RCV000036324 | p.Met1Ter | frameshift | - | NC_000015.10:g.63042831del | ClinVar |
rs1060501865 | p.Asp2His | missense variant | - | NC_000015.10:g.63042833G>C | - |
RCV000457778 | p.Asp2His | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63042833G>C | ClinVar |
rs730881148 | p.Ile4Val | missense variant | - | NC_000015.10:g.63042839A>G | - |
RCV000159393 | p.Ile4Val | missense variant | - | NC_000015.10:g.63042839A>G | ClinVar |
NCI-TCGA novel | p.Lys5Arg | missense variant | - | NC_000015.10:g.63042843A>G | NCI-TCGA |
rs397516364 | p.Met8Arg | missense variant | - | NC_000015.10:g.63042852T>G | - |
RCV000036318 | p.Met8Arg | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63042852T>G | ClinVar |
RCV000521387 | p.Gln9Leu | missense variant | - | NC_000015.10:g.63042855A>T | ClinVar |
RCV000619514 | p.Gln9Lys | missense variant | - | NC_000015.10:g.63042854C>A | ClinVar |
rs1555402931 | p.Gln9Leu | missense variant | - | NC_000015.10:g.63042855A>T | - |
RCV000159394 | p.Gln9Lys | missense variant | - | NC_000015.10:g.63042854C>A | ClinVar |
rs730881149 | p.Gln9Lys | missense variant | - | NC_000015.10:g.63042854C>A | - |
NCI-TCGA novel | p.Leu13Phe | missense variant | - | NC_000015.10:g.63042866C>T | NCI-TCGA |
rs876661210 | p.Asp14Tyr | missense variant | - | NC_000015.10:g.63042869G>T | - |
RCV000213187 | p.Asp14Tyr | missense variant | - | NC_000015.10:g.63042869G>T | ClinVar |
rs199476301 | p.Lys15Asn | missense variant | - | NC_000015.10:g.63042874G>T | ExAC,gnomAD |
rs869025539 | p.Lys15Arg | missense variant | - | NC_000015.10:g.63042873A>G | - |
RCV000024588 | p.Lys15Asn | missense variant | - | NC_000015.10:g.63042874G>T | ClinVar |
RCV000208520 | p.Lys15Arg | missense variant | Left ventricular noncompaction cardiomyopathy | NC_000015.10:g.63042873A>G | ClinVar |
RCV000159395 | p.Glu16Gln | missense variant | - | NC_000015.10:g.63042875G>C | ClinVar |
rs727504290 | p.Glu16Gln | missense variant | - | NC_000015.10:g.63042875G>C | - |
RCV000154303 | p.Glu16Gln | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63042875G>C | ClinVar |
rs878854150 | p.Asn17Lys | missense variant | - | NC_000015.10:g.63042880C>G | TOPMed,gnomAD |
rs878854150 | p.Asn17Lys | missense variant | - | NC_000015.10:g.63042880C>A | TOPMed,gnomAD |
RCV000227176 | p.Asn17Lys | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63042880C>G | ClinVar |
rs727504391 | p.Asp20Asn | missense variant | - | NC_000015.10:g.63042887G>A | - |
RCV000766942 | p.Asp20Asn | missense variant | - | NC_000015.10:g.63042887G>A | ClinVar |
RCV000154553 | p.Asp20Asn | missense variant | - | NC_000015.10:g.63042887G>A | ClinVar |
rs730881151 | p.Arg21Leu | missense variant | - | NC_000015.10:g.63042891G>T | ExAC,TOPMed,gnomAD |
RCV000201492 | p.Arg21Leu | missense variant | Familial hypertrophic cardiomyopathy 3 (CMH3) | NC_000015.10:g.63042891G>T | ClinVar |
RCV000036351 | p.Ala22Thr | missense variant | - | NC_000015.10:g.63042893G>A | ClinVar |
rs397516382 | p.Ala22Thr | missense variant | - | NC_000015.10:g.63042893G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
RCV000618601 | p.Ala22Thr | missense variant | - | NC_000015.10:g.63042893G>A | ClinVar |
RCV000223842 | p.Ala22Thr | missense variant | - | NC_000015.10:g.63042893G>A | ClinVar |
rs876661396 | p.Glu23Asp | missense variant | - | NC_000015.10:g.63042898G>C | - |
rs199476302 | p.Glu23Gln | missense variant | - | NC_000015.10:g.63042896G>C | - |
RCV000223855 | p.Glu23Asp | missense variant | - | NC_000015.10:g.63042898G>C | ClinVar |
RCV000024589 | p.Glu23Gln | missense variant | - | NC_000015.10:g.63042896G>C | ClinVar |
RCV000157543 | p.Glu26Gly | missense variant | Primary familial hypertrophic cardiomyopathy (HCM) | NC_000015.10:g.63042906A>G | ClinVar |
rs730880234 | p.Glu26Gly | missense variant | - | NC_000015.10:g.63042906A>G | - |
rs1346512134 | p.Ala27Val | missense variant | - | NC_000015.10:g.63042909C>T | gnomAD |
rs397516391 | p.Asp28Asn | missense variant | - | NC_000015.10:g.63042911G>A | TOPMed,gnomAD |
RCV000766945 | p.Asp28His | missense variant | - | NC_000015.10:g.63042911G>C | ClinVar |
RCV000621745 | p.Asp28Asn | missense variant | - | NC_000015.10:g.63042911G>A | ClinVar |
RCV000036363 | p.Asp28Asn | missense variant | - | NC_000015.10:g.63042911G>A | ClinVar |
rs397516391 | p.Asp28His | missense variant | - | NC_000015.10:g.63042911G>C | TOPMed,gnomAD |
rs397516391 | p.Asp28Tyr | missense variant | - | NC_000015.10:g.63042911G>T | TOPMed,gnomAD |
RCV000769476 | p.Asp28Asn | missense variant | Cardiomyopathy (CMYO) | NC_000015.10:g.63042911G>A | ClinVar |
RCV000766946 | p.Asp28Asn | missense variant | - | NC_000015.10:g.63042911G>A | ClinVar |
RCV000768533 | p.Asp28Asn | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63042911G>A | ClinVar |
rs1255071660 | p.Lys29Glu | missense variant | - | NC_000015.10:g.63042914A>G | gnomAD |
rs1447267149 | p.Lys30Arg | missense variant | - | NC_000015.10:g.63042918A>G | gnomAD |
rs1555402999 | p.Lys30Ala | missense variant | - | NC_000015.10:g.63042917_63042918delinsGC | - |
RCV000531857 | p.Lys30Ala | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63042917_63042918delinsGC | ClinVar |
RCV000036370 | p.Ala31Thr | missense variant | - | NC_000015.10:g.63042920G>A | ClinVar |
rs749500508 | p.Ala31Glu | missense variant | - | NC_000015.10:g.63042921C>A | ExAC,gnomAD |
rs397516396 | p.Ala31Thr | missense variant | - | NC_000015.10:g.63042920G>A | - |
RCV000543459 | p.Glu33Ala | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63042927A>C | ClinVar |
RCV000036371 | p.Glu33Lys | missense variant | - | NC_000015.10:g.63042926G>A | ClinVar |
rs397516397 | p.Glu33Lys | missense variant | - | NC_000015.10:g.63042926G>A | - |
COSM4937699 | p.Glu33Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63042927A>G | NCI-TCGA Cosmic |
rs1448738061 | p.Arg35Ser | missense variant | - | NC_000015.10:g.63042934G>C | gnomAD |
rs730881152 | p.Arg35Lys | missense variant | - | NC_000015.10:g.63042933G>A | TOPMed |
RCV000776457 | p.Arg35Lys | missense variant | Cardiomyopathy (CMYO) | NC_000015.10:g.63042933G>A | ClinVar |
rs730881152 | p.Arg35Thr | missense variant | - | NC_000015.10:g.63042933G>C | TOPMed |
RCV000159402 | p.Arg35Thr | missense variant | - | NC_000015.10:g.63042933G>C | ClinVar |
RCV000769477 | p.Ser36Gly | missense variant | Cardiomyopathy (CMYO) | NC_000015.10:g.63042935A>G | ClinVar |
rs1174194983 | p.Ser36Asn | missense variant | - | NC_000015.10:g.63042936G>A | gnomAD |
RCV000024593 | p.Lys37Glu | missense variant | - | NC_000015.10:g.63042938A>G | ClinVar |
rs199476303 | p.Lys37Glu | missense variant | - | NC_000015.10:g.63042938A>G | - |
RCV000462958 | p.Gln38Glu | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63042941C>G | ClinVar |
rs1060501863 | p.Gln38Glu | missense variant | - | NC_000015.10:g.63042941C>G | - |
rs104894501 | p.Glu40Gln | missense variant | - | NC_000015.10:g.63044030G>C | TOPMed,gnomAD |
RCV000766947 | p.Glu40Ter | nonsense | - | NC_000015.10:g.63044030G>T | ClinVar |
RCV000700155 | p.Glu40Ter | nonsense | Hypertrophic cardiomyopathy | NC_000015.10:g.63044030G>T | ClinVar |
rs104894501 | p.Glu40Lys | missense variant | - | NC_000015.10:g.63044030G>A | TOPMed,gnomAD |
rs104894501 | p.Glu40Ter | stop gained | - | NC_000015.10:g.63044030G>T | TOPMed,gnomAD |
rs104894501 | p.Glu40Lys | missense variant | Cardiomyopathy, dilated 1Y (CMD1Y) | NC_000015.10:g.63044030G>A | UniProt,dbSNP |
VAR_043986 | p.Glu40Lys | missense variant | Cardiomyopathy, dilated 1Y (CMD1Y) | NC_000015.10:g.63044030G>A | UniProt |
RCV000036315 | p.Glu40Ter | nonsense | - | NC_000015.10:g.63044030G>T | ClinVar |
RCV000013275 | p.Glu40Lys | missense variant | Dilated cardiomyopathy 1Y (CMD1Y) | NC_000015.10:g.63044030G>A | ClinVar |
RCV000621859 | p.Glu40Ter | nonsense | - | NC_000015.10:g.63044030G>T | ClinVar |
RCV000488962 | p.Glu40Gln | missense variant | - | NC_000015.10:g.63044030G>C | ClinVar |
rs1406954948 | p.Val44Leu | missense variant | - | NC_000015.10:g.63044042G>T | gnomAD |
NCI-TCGA novel | p.Ser45Leu | missense variant | - | NC_000015.10:g.63044046C>T | NCI-TCGA |
rs1060501864 | p.Gln47Arg | missense variant | - | NC_000015.10:g.63044052A>G | - |
RCV000469579 | p.Gln47Arg | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63044052A>G | ClinVar |
NCI-TCGA novel | p.Lys48Glu | missense variant | - | NC_000015.10:g.63044054A>G | NCI-TCGA |
rs1060501866 | p.Leu50Phe | missense variant | - | NC_000015.10:g.63044060C>T | - |
rs1060501866 | p.Leu50Ile | missense variant | - | NC_000015.10:g.63044060C>A | - |
RCV000530381 | p.Leu50Phe | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63044060C>T | ClinVar |
RCV000464388 | p.Leu50Ile | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63044060C>A | ClinVar |
RCV000701909 | p.Lys51Arg | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63044064A>G | ClinVar |
rs757460987 | p.Gly52Val | missense variant | - | NC_000015.10:g.63044067G>T | ExAC,gnomAD |
rs730881127 | p.Gly52Ser | missense variant | - | NC_000015.10:g.63044066G>A | - |
RCV000159348 | p.Gly52Ser | missense variant | - | NC_000015.10:g.63044066G>A | ClinVar |
rs104894505 | p.Glu54Lys | missense variant | Cardiomyopathy, dilated 1Y (CMD1Y) | NC_000015.10:g.63044072G>A | UniProt,dbSNP |
VAR_043987 | p.Glu54Lys | missense variant | Cardiomyopathy, dilated 1Y (CMD1Y) | NC_000015.10:g.63044072G>A | UniProt |
rs104894505 | p.Glu54Lys | missense variant | - | NC_000015.10:g.63044072G>A | - |
RCV000159370 | p.Glu54Lys | missense variant | - | NC_000015.10:g.63044072G>A | ClinVar |
RCV000706303 | p.Asp55Gly | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63044076A>G | ClinVar |
NCI-TCGA novel | p.Asp55Glu | missense variant | - | NC_000015.10:g.63044077T>G | NCI-TCGA |
rs397516363 | p.Asp55Asn | missense variant | - | NC_000015.10:g.63044075G>A | - |
RCV000036316 | p.Asp55Asn | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63044075G>A | ClinVar |
RCV000456653 | p.Asp58His | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63044084G>C | ClinVar |
COSM4923198 | p.Tyr60Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63044091A>G | NCI-TCGA Cosmic |
COSM1478249 | p.Ser61LeuPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000015.10:g.63044092C>- | NCI-TCGA Cosmic |
RCV000768494 | p.Glu62Gln | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63044096G>C | ClinVar |
rs1064796782 | p.Ala63Thr | missense variant | - | NC_000015.10:g.63044099G>A | - |
rs199476306 | p.Ala63Val | missense variant | Cardiomyopathy, familial hypertrophic 3 (CMH3) | NC_000015.10:g.63044100C>T | UniProt,dbSNP |
VAR_013135 | p.Ala63Val | missense variant | Cardiomyopathy, familial hypertrophic 3 (CMH3) | NC_000015.10:g.63044100C>T | UniProt |
RCV000619544 | p.Ala63Val | missense variant | - | NC_000015.10:g.63044100C>T | ClinVar |
RCV000478328 | p.Ala63Thr | missense variant | - | NC_000015.10:g.63044099G>A | ClinVar |
NCI-TCGA novel | p.Asp66His | missense variant | - | NC_000015.10:g.63044108G>C | NCI-TCGA |
COSM1587957 | p.Ala67Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63044112C>T | NCI-TCGA Cosmic |
rs199476307 | p.Lys70Thr | missense variant | - | NC_000015.10:g.63044121A>C | - |
RCV000024574 | p.Lys70Thr | missense variant | - | NC_000015.10:g.63044121A>C | ClinVar |
RCV000159376 | p.Leu71Val | missense variant | - | NC_000015.10:g.63044123C>G | ClinVar |
rs730881143 | p.Leu71Val | missense variant | - | NC_000015.10:g.63044123C>G | - |
RCV000769479 | p.Glu72Lys | missense variant | Cardiomyopathy (CMYO) | NC_000015.10:g.63044126G>A | ClinVar |
NCI-TCGA novel | p.Glu72Ter | stop gained | - | NC_000015.10:g.63044126G>T | NCI-TCGA |
rs1358909905 | p.Glu72Gly | missense variant | - | NC_000015.10:g.63044127A>G | gnomAD |
rs1555403432 | p.Lys76Glu | missense variant | - | NC_000015.10:g.63044138A>G | - |
RCV000560089 | p.Lys76Glu | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63044138A>G | ClinVar |
NCI-TCGA novel | p.Asp80Asn | missense variant | - | NC_000015.10:g.63044150G>A | NCI-TCGA |
rs730881130 | p.Ala83Asp | missense variant | - | NC_000015.10:g.63056992C>A | - |
RCV000159355 | p.Ala83Asp | missense variant | - | NC_000015.10:g.63056992C>A | ClinVar |
RCV000036320 | p.Asp84Glu | missense variant | - | NC_000015.10:g.63056996C>G | ClinVar |
rs754664923 | p.Asp84Asn | missense variant | - | NC_000015.10:g.63056994G>A | ExAC,gnomAD |
rs369617788 | p.Asp84Glu | missense variant | - | NC_000015.10:g.63056996C>G | ESP,ExAC,TOPMed,gnomAD |
RCV000242724 | p.Asp84Asn | missense variant | - | NC_000015.10:g.63056994G>A | ClinVar |
rs730881156 | p.Val85Leu | missense variant | - | NC_000015.10:g.63056997G>T | ExAC,gnomAD |
RCV000786233 | p.Val85Leu | missense variant | - | NC_000015.10:g.63056997G>T | ClinVar |
RCV000544344 | p.Val85Leu | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63056997G>T | ClinVar |
RCV000534139 | p.Val85Ile | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63056997G>A | ClinVar |
rs730881156 | p.Val85Ile | missense variant | - | NC_000015.10:g.63056997G>A | ExAC,gnomAD |
rs757577112 | p.Ala86Gly | missense variant | - | NC_000015.10:g.63057001C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ala86Asp | missense variant | - | NC_000015.10:g.63057001C>A | NCI-TCGA |
RCV000208058 | p.Ala86Gly | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63057001C>G | ClinVar |
NCI-TCGA novel | p.Ser87His | insertion | - | NC_000015.10:g.63057004_63057005insTCA | NCI-TCGA |
NCI-TCGA novel | p.Ser87PhePheSerTerUnkUnk | frameshift | - | NC_000015.10:g.63057003_63057004insTTATTAAAATTAGGTTGGTTTTA | NCI-TCGA |
RCV000560434 | p.Leu88Val | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63057006C>G | ClinVar |
rs1555407795 | p.Leu88Val | missense variant | - | NC_000015.10:g.63057006C>G | - |
RCV000489107 | p.Asn89Lys | missense variant | - | NC_000015.10:g.63057011C>G | ClinVar |
rs1085307487 | p.Asn89Lys | missense variant | - | NC_000015.10:g.63057011C>G | - |
rs1266444831 | p.Arg91Cys | missense variant | - | NC_000015.10:g.63057015C>T | gnomAD |
rs1477561695 | p.Arg91His | missense variant | - | NC_000015.10:g.63057016G>A | TOPMed,gnomAD |
rs730881157 | p.Ile92Met | missense variant | - | NC_000015.10:g.63057020C>G | - |
RCV000159408 | p.Ile92Met | missense variant | - | NC_000015.10:g.63057020C>G | ClinVar |
RCV000024587 | p.Ile92Thr | missense variant | - | NC_000015.10:g.63057019T>C | ClinVar |
rs746394586 | p.Gln93Arg | missense variant | - | NC_000015.10:g.63057022A>G | ExAC,gnomAD |
COSM3502945 | p.Val95Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63057028T>G | NCI-TCGA Cosmic |
RCV000619092 | p.Val95Ala | missense variant | - | NC_000015.10:g.63057028T>C | ClinVar |
rs1064793284 | p.Glu97Gln | missense variant | - | NC_000015.10:g.63057033G>C | - |
RCV000482070 | p.Glu97Gln | missense variant | - | NC_000015.10:g.63057033G>C | ClinVar |
rs747907799 | p.Arg101His | missense variant | - | NC_000015.10:g.63057046G>A | ExAC,gnomAD |
rs769069020 | p.Arg101Gly | missense variant | - | NC_000015.10:g.63057045C>G | ExAC,gnomAD |
rs769069020 | p.Arg101Cys | missense variant | - | NC_000015.10:g.63057045C>T | ExAC,gnomAD |
rs397516367 | p.Ala102Asp | missense variant | - | NC_000015.10:g.63057049C>A | - |
RCV000036325 | p.Ala102Asp | missense variant | - | NC_000015.10:g.63057049C>A | ClinVar |
RCV000773445 | p.Arg105His | missense variant | Cardiomyopathy (CMYO) | NC_000015.10:g.63057058G>A | ClinVar |
rs773149185 | p.Arg105His | missense variant | - | NC_000015.10:g.63057058G>A | ExAC,TOPMed,gnomAD |
rs762922595 | p.Thr108Ile | missense variant | - | NC_000015.10:g.63057067C>T | ExAC,gnomAD |
RCV000736014 | p.Leu113Val | missense variant | Left ventricular noncompaction 9 (LVNC9) | NC_000015.10:g.63057081C>G | ClinVar |
rs397516370 | p.Glu114Gly | missense variant | - | NC_000015.10:g.63057085A>G | - |
RCV000036328 | p.Glu114Gly | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63057085A>G | ClinVar |
rs727504313 | p.Glu115Lys | missense variant | - | NC_000015.10:g.63057087G>A | - |
RCV000766948 | p.Glu115Lys | missense variant | - | NC_000015.10:g.63057087G>A | ClinVar |
RCV000154378 | p.Glu115Lys | missense variant | - | NC_000015.10:g.63057087G>A | ClinVar |
rs773916751 | p.Lys118Asn | missense variant | - | NC_000015.10:g.63057098G>T | ExAC,gnomAD |
COSM3502955 | p.Lys118Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000015.10:g.63057096A>T | NCI-TCGA Cosmic |
rs759173967 | p.Ala119Thr | missense variant | - | NC_000015.10:g.63057099G>A | ExAC,gnomAD |
rs876658031 | p.Glu122Lys | missense variant | - | NC_000015.10:g.63057108G>A | - |
RCV000217804 | p.Glu122Lys | missense variant | - | NC_000015.10:g.63057108G>A | ClinVar |
RCV000701011 | p.Gly126Val | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63059565G>T | ClinVar |
rs201211957 | p.Met127Ile | missense variant | - | NC_000015.10:g.63059569G>A | - |
RCV000172140 | p.Met127Ile | missense variant | - | NC_000015.10:g.63059569G>A | ClinVar |
RCV000491526 | p.Ile130Val | missense variant | Pulmonary atresia with intact ventricular septum | NC_000015.10:g.63059576A>G | ClinVar |
RCV000786231 | p.Ile130Thr | missense variant | - | NC_000015.10:g.63059577T>C | ClinVar |
RCV000619274 | p.Ile130Thr | missense variant | - | NC_000015.10:g.63059577T>C | ClinVar |
RCV000152117 | p.Ile130Thr | missense variant | - | NC_000015.10:g.63059577T>C | ClinVar |
RCV000549273 | p.Ile130Thr | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63059577T>C | ClinVar |
rs1114167355 | p.Ile130Val | missense variant | - | NC_000015.10:g.63059576A>G | - |
rs727503517 | p.Ile130Thr | missense variant | - | NC_000015.10:g.63059577T>C | - |
rs1005672618 | p.Arg133Ter | stop gained | - | NC_000015.10:g.63059585C>T | gnomAD |
rs11558749 | p.Gln135Ter | stop gained | - | NC_000015.10:g.63059591C>T | gnomAD |
rs11558749 | p.Gln135Lys | missense variant | - | NC_000015.10:g.63059591C>A | gnomAD |
RCV000024582 | p.Gln135Lys | missense variant | - | NC_000015.10:g.63059591C>A | ClinVar |
rs730881134 | p.Asp137Gly | missense variant | - | NC_000015.10:g.63059598A>G | ExAC,TOPMed,gnomAD |
rs730881134 | p.Asp137Val | missense variant | - | NC_000015.10:g.63059598A>T | ExAC,TOPMed,gnomAD |
rs1555408631 | p.Asp137Glu | missense variant | - | NC_000015.10:g.63059599T>A | - |
RCV000521302 | p.Asp137Glu | missense variant | - | NC_000015.10:g.63059599T>A | ClinVar |
RCV000159360 | p.Asp137Val | missense variant | - | NC_000015.10:g.63059598A>T | ClinVar |
rs879253758 | p.Glu138Lys | missense variant | - | NC_000015.10:g.63059600G>A | - |
RCV000234880 | p.Glu138Lys | missense variant | - | NC_000015.10:g.63059600G>A | ClinVar |
rs727504389 | p.Glu139Val | missense variant | - | NC_000015.10:g.63059604A>T | - |
RCV000154548 | p.Glu139Val | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63059604A>T | ClinVar |
RCV000159361 | p.Lys140Gln | missense variant | - | NC_000015.10:g.63059606A>C | ClinVar |
rs730881135 | p.Lys140Gln | missense variant | - | NC_000015.10:g.63059606A>C | - |
rs397516371 | p.Met141Ile | missense variant | - | NC_000015.10:g.63059611G>C | - |
RCV000036330 | p.Met141Ile | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63059611G>C | ClinVar |
rs1555408649 | p.Glu142Lys | missense variant | - | NC_000015.10:g.63059612G>A | - |
RCV000610234 | p.Glu142Lys | missense variant | - | NC_000015.10:g.63059612G>A | ClinVar |
rs730881136 | p.Ile143Ser | missense variant | - | NC_000015.10:g.63059616T>G | - |
RCV000159362 | p.Ile143Ser | missense variant | - | NC_000015.10:g.63059616T>G | ClinVar |
rs1206044252 | p.Gln144Ter | stop gained | - | NC_000015.10:g.63059618C>T | TOPMed |
RCV000769480 | p.Gln144Arg | missense variant | Cardiomyopathy (CMYO) | NC_000015.10:g.63059619A>G | ClinVar |
rs397516372 | p.His153Tyr | missense variant | - | NC_000015.10:g.63059645C>T | gnomAD |
RCV000156470 | p.His153Arg | missense variant | - | NC_000015.10:g.63059646A>G | ClinVar |
rs727505043 | p.His153Arg | missense variant | - | NC_000015.10:g.63059646A>G | - |
rs771515165 | p.His153Gln | missense variant | - | NC_000015.10:g.63059647C>A | ExAC,gnomAD |
rs397516372 | p.His153Asp | missense variant | - | NC_000015.10:g.63059645C>G | gnomAD |
RCV000527568 | p.His153Asp | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63059645C>G | ClinVar |
RCV000612144 | p.Ile154Val | missense variant | - | NC_000015.10:g.63059648A>G | ClinVar |
COSM1478250 | p.Ala155Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63059651G>C | NCI-TCGA Cosmic |
RCV000736013 | p.Asp159Asn | missense variant | Left ventricular noncompaction 9 (LVNC9) | NC_000015.10:g.63059663G>A | ClinVar |
RCV000694039 | p.Asp159Asn | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63059663G>A | ClinVar |
RCV000036336 | p.Arg160His | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63059667G>A | ClinVar |
rs199476311 | p.Arg160His | missense variant | - | NC_000015.10:g.63059667G>A | gnomAD |
COSM1373913 | p.Arg160Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63059666C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Val165Leu | missense variant | - | NC_000015.10:g.63060869G>T | NCI-TCGA |
RCV000221536 | p.Ala166Thr | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63060872G>A | ClinVar |
rs876657662 | p.Ala166Thr | missense variant | - | NC_000015.10:g.63060872G>A | - |
COSM1478252 | p.Arg167Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63060875C>G | NCI-TCGA Cosmic |
rs1555409095 | p.Val170Ile | missense variant | - | NC_000015.10:g.63060884G>A | - |
RCV000505992 | p.Val170Ile | missense variant | - | NC_000015.10:g.63060884G>A | ClinVar |
rs730881137 | p.Ile171Met | missense variant | - | NC_000015.10:g.63060889C>G | gnomAD |
rs774903903 | p.Ile171Leu | missense variant | - | NC_000015.10:g.63060887A>C | ExAC,TOPMed,gnomAD |
rs774903903 | p.Ile171Val | missense variant | - | NC_000015.10:g.63060887A>G | ExAC,TOPMed,gnomAD |
RCV000203900 | p.Ile171Leu | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63060887A>C | ClinVar |
RCV000159363 | p.Ile171Met | missense variant | - | NC_000015.10:g.63060889C>G | ClinVar |
rs760374266 | p.Ile172Leu | missense variant | - | NC_000015.10:g.63060890A>C | ExAC,gnomAD |
RCV000489447 | p.Ile172Leu | missense variant | - | NC_000015.10:g.63060890A>C | ClinVar |
RCV000159365 | p.Ile172Met | missense variant | - | NC_000015.10:g.63060892T>G | ClinVar |
RCV000620267 | p.Ile172Phe | missense variant | - | NC_000015.10:g.63060890A>T | ClinVar |
RCV000148916 | p.Ile172Thr | missense variant | Primary familial hypertrophic cardiomyopathy (HCM) | NC_000015.10:g.63060891T>C | ClinVar |
rs199476312 | p.Ile172Thr | missense variant | - | NC_000015.10:g.63060891T>C | ESP,ExAC |
rs760374266 | p.Ile172Phe | missense variant | - | NC_000015.10:g.63060890A>T | ExAC,gnomAD |
rs730881138 | p.Ile172Met | missense variant | - | NC_000015.10:g.63060892T>G | - |
rs886037905 | p.Glu173Asp | missense variant | - | NC_000015.10:g.63060895G>C | gnomAD |
RCV000240649 | p.Glu173Asp | missense variant | Dilated cardiomyopathy 1Y (CMD1Y) | NC_000015.10:g.63060895G>C | ClinVar |
RCV000036340 | p.Asp175Asn | missense variant | Primary familial hypertrophic cardiomyopathy (HCM) | NC_000015.10:g.63060899G>A | ClinVar |
RCV000474684 | p.Asp175Asn | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63060899G>A | ClinVar |
RCV000013272 | p.Asp175Asn | missense variant | Familial hypertrophic cardiomyopathy 3 (CMH3) | NC_000015.10:g.63060899G>A | ClinVar |
RCV000622165 | p.Asp175Asn | missense variant | - | NC_000015.10:g.63060899G>A | ClinVar |
RCV000243279 | p.Asp175Gly | missense variant | - | NC_000015.10:g.63060900A>G | ClinVar |
rs104894503 | p.Asp175Asn | missense variant | - | NC_000015.10:g.63060899G>A | TOPMed,gnomAD |
rs104894503 | p.Asp175Asn | missense variant | Cardiomyopathy, familial hypertrophic 3 (CMH3) | NC_000015.10:g.63060899G>A | UniProt,dbSNP |
VAR_007601 | p.Asp175Asn | missense variant | Cardiomyopathy, familial hypertrophic 3 (CMH3) | NC_000015.10:g.63060899G>A | UniProt |
rs886039024 | p.Asp175Gly | missense variant | - | NC_000015.10:g.63060900A>G | - |
RCV000159366 | p.Asp175Asn | missense variant | - | NC_000015.10:g.63060899G>A | ClinVar |
rs397516375 | p.Arg178His | missense variant | - | NC_000015.10:g.63060909G>A | - |
rs367606352 | p.Arg178Cys | missense variant | - | NC_000015.10:g.63060908C>T | ESP,ExAC |
RCV000036341 | p.Arg178His | missense variant | - | NC_000015.10:g.63060909G>A | ClinVar |
RCV000024576 | p.Glu180Val | missense variant | - | NC_000015.10:g.63060915A>T | ClinVar |
RCV000013271 | p.Glu180Gly | missense variant | Familial hypertrophic cardiomyopathy 3 (CMH3) | NC_000015.10:g.63060915A>G | ClinVar |
rs104894502 | p.Glu180Gly | missense variant | Cardiomyopathy, familial hypertrophic 3 (CMH3) | NC_000015.10:g.63060915A>G | UniProt,dbSNP |
VAR_007602 | p.Glu180Gly | missense variant | Cardiomyopathy, familial hypertrophic 3 (CMH3) | NC_000015.10:g.63060915A>G | UniProt |
rs104894502 | p.Glu180Val | missense variant | Cardiomyopathy, familial hypertrophic 3 (CMH3) | NC_000015.10:g.63060915A>T | UniProt,dbSNP |
VAR_029452 | p.Glu180Val | missense variant | Cardiomyopathy, familial hypertrophic 3 (CMH3) | NC_000015.10:g.63060915A>T | UniProt |
rs1555409132 | p.Glu180Gln | missense variant | - | NC_000015.10:g.63060914G>C | - |
RCV000628948 | p.Glu180Gln | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63060914G>C | ClinVar |
RCV000159367 | p.Glu180Gly | missense variant | - | NC_000015.10:g.63060915A>G | ClinVar |
NCI-TCGA novel | p.Arg182Trp | missense variant | - | NC_000015.10:g.63060920C>T | NCI-TCGA |
RCV000853436 | p.Ala183Val | missense variant | Bicuspid aortic valve | NC_000015.10:g.63060924C>T | ClinVar |
rs397516376 | p.Ala183Val | missense variant | - | NC_000015.10:g.63060924C>T | TOPMed,gnomAD |
RCV000159403 | p.Glu184Ter | frameshift | - | NC_000015.10:g.63060927del | ClinVar |
rs199476314 | p.Leu185Arg | missense variant | - | NC_000015.10:g.63060930T>G | - |
RCV000024577 | p.Leu185Arg | missense variant | - | NC_000015.10:g.63060930T>G | ClinVar |
rs727504264 | p.Glu187Gln | missense variant | - | NC_000015.10:g.63060935G>C | - |
rs786204411 | p.Glu187Val | missense variant | - | NC_000015.10:g.63060936A>T | - |
RCV000154247 | p.Glu187Gln | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63060935G>C | ClinVar |
RCV000253438 | p.Glu187Val | missense variant | - | NC_000015.10:g.63060936A>T | ClinVar |
rs730881139 | p.Cys190Gly | missense variant | - | NC_000015.10:g.63061717T>G | TOPMed,gnomAD |
rs730881139 | p.Cys190Arg | missense variant | - | NC_000015.10:g.63061717T>C | TOPMed,gnomAD |
RCV000628953 | p.Ala191Val | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63061721_63061722delinsTT | ClinVar |
rs772303740 | p.Ala191Val | missense variant | - | NC_000015.10:g.63061721C>T | ExAC,gnomAD |
rs730881154 | p.Ala191Val | missense variant | - | NC_000015.10:g.63061721_63061722delinsTT | - |
RCV000159404 | p.Ala191Val | missense variant | - | NC_000015.10:g.63061721_63061722delinsTT | ClinVar |
rs199476315 | p.Glu192Lys | missense variant | - | NC_000015.10:g.63061723G>A | - |
rs199476315 | p.Glu192Lys | missense variant | Left ventricular non-compaction 9 (LVNC9) | NC_000015.10:g.63061723G>A | UniProt,dbSNP |
VAR_070121 | p.Glu192Lys | missense variant | Left ventricular non-compaction 9 (LVNC9) | NC_000015.10:g.63061723G>A | UniProt |
RCV000526765 | p.Glu192Lys | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63061723G>A | ClinVar |
rs1555409508 | p.Glu195Lys | missense variant | - | NC_000015.10:g.63061732G>A | - |
RCV000618099 | p.Glu195Lys | missense variant | - | NC_000015.10:g.63061732G>A | ClinVar |
COSM4056092 | p.Glu196Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000015.10:g.63061735G>T | NCI-TCGA Cosmic |
rs730881140 | p.Lys198Glu | missense variant | - | NC_000015.10:g.63061741A>G | - |
RCV000159373 | p.Lys198Glu | missense variant | - | NC_000015.10:g.63061741A>G | ClinVar |
COSM700771 | p.Lys198Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63061742A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Val200GluPheSerTerUnk | frameshift | - | NC_000015.10:g.63061747_63061748insAGTCC | NCI-TCGA |
NCI-TCGA novel | p.Val200GluPheSerTerUnk | frameshift | - | NC_000015.10:g.63061746_63061747insGA | NCI-TCGA |
RCV000159374 | p.Thr201Met | missense variant | - | NC_000015.10:g.63061751C>T | ClinVar |
rs730881141 | p.Thr201Met | missense variant | - | NC_000015.10:g.63061751C>T | - |
RCV000687999 | p.Thr201Met | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63061751C>T | ClinVar |
rs397516486 | p.Asn203Lys | missense variant | - | NC_000015.10:g.63061758C>G | - |
RCV000036629 | p.Asn203Lys | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63061758C>G | ClinVar |
rs1555409523 | p.Asn203Asp | missense variant | - | NC_000015.10:g.63061756A>G | - |
RCV000629029 | p.Asn203Asp | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63061756A>G | ClinVar |
RCV000144846 | p.Leu207Ter | frameshift | Cardiomyopathy (CMYO) | NC_000015.10:g.63061769del | ClinVar |
rs730881159 | p.Ala209Thr | missense variant | - | NC_000015.10:g.63061774G>A | - |
RCV000159411 | p.Ala209Thr | missense variant | - | NC_000015.10:g.63061774G>A | ClinVar |
COSM4056095 | p.Gln210Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63061778A>G | NCI-TCGA Cosmic |
rs777139450 | p.Gln210Pro | missense variant | - | NC_000015.10:g.63061778A>C | ExAC,gnomAD |
rs397516487 | p.Ala211Gly | missense variant | - | NC_000015.10:g.63061781C>G | - |
RCV000036630 | p.Ala211Gly | missense variant | - | NC_000015.10:g.63061781C>G | ClinVar |
rs769951937 | p.Glu212Val | missense variant | - | NC_000015.10:g.63061784A>T | ExAC,gnomAD |
RCV000584812 | p.Glu212Val | missense variant | Familial hypertrophic cardiomyopathy 1 (CMH1) | NC_000015.10:g.63061784A>T | ClinVar |
RCV000786232 | p.Lys213Gln | missense variant | - | NC_000015.10:g.63061786A>C | ClinVar |
rs1382149754 | p.Tyr214Cys | missense variant | - | NC_000015.10:g.63062216A>G | gnomAD |
rs199476316 | p.Ser215Leu | missense variant | - | NC_000015.10:g.63062219C>T | ExAC,gnomAD |
RCV000168063 | p.Ser215Leu | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63062219C>T | ClinVar |
rs1265700466 | p.Gln216Glu | missense variant | - | NC_000015.10:g.63062221C>G | TOPMed |
rs727503518 | p.Asp219Asn | missense variant | - | NC_000015.10:g.63062230G>A | - |
RCV000152120 | p.Asp219Asn | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63062230G>A | ClinVar |
rs763069444 | p.Arg220Lys | missense variant | - | NC_000015.10:g.63062234G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Glu222Gln | missense variant | - | NC_000015.10:g.63062239G>C | NCI-TCGA |
COSM3794291 | p.Glu224Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63062245G>C | NCI-TCGA Cosmic |
RCV000159379 | p.Ile225Val | missense variant | - | NC_000015.10:g.63062248A>G | ClinVar |
NCI-TCGA novel | p.Ile225Asn | missense variant | - | NC_000015.10:g.63062249T>A | NCI-TCGA |
rs193922410 | p.Ile225Val | missense variant | - | NC_000015.10:g.63062248A>G | gnomAD |
RCV000030569 | p.Ile225Val | missense variant | - | NC_000015.10:g.63062248A>G | ClinVar |
rs730881144 | p.Lys226Arg | missense variant | - | NC_000015.10:g.63062252A>G | - |
RCV000036352 | p.Lys226Gln | missense variant | - | NC_000015.10:g.63062251A>C | ClinVar |
rs397516383 | p.Lys226Gln | missense variant | - | NC_000015.10:g.63062251A>C | - |
RCV000159380 | p.Lys226Arg | missense variant | - | NC_000015.10:g.63062252A>G | ClinVar |
rs1368991319 | p.Val227Ile | missense variant | - | NC_000015.10:g.63062254G>A | TOPMed |
rs1114167356 | p.Ser229Phe | missense variant | - | NC_000015.10:g.63062261C>T | - |
RCV000491210 | p.Ser229Phe | missense variant | Atrial septal defect 1 (ASD1) | NC_000015.10:g.63062261C>T | ClinVar |
RCV000695968 | p.Asp230Asn | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63062263G>A | ClinVar |
RCV000036354 | p.Asp230Asn | missense variant | Primary dilated cardiomyopathy (DCM) | NC_000015.10:g.63062263G>A | ClinVar |
rs199476317 | p.Asp230Asn | missense variant | - | NC_000015.10:g.63062263G>A | - |
RCV000024580 | p.Asp230Asn | missense variant | - | NC_000015.10:g.63062263G>A | ClinVar |
RCV000850515 | p.Asp230Asn | missense variant | Familial hypertrophic cardiomyopathy 3 (CMH3) | NC_000015.10:g.63062263G>A | ClinVar |
rs397516385 | p.Lys231Arg | missense variant | - | NC_000015.10:g.63062267A>G | - |
RCV000036355 | p.Lys231Arg | missense variant | - | NC_000015.10:g.63062267A>G | ClinVar |
rs1307911763 | p.Glu234Asp | missense variant | - | NC_000015.10:g.63062277G>C | gnomAD |
COSM3816492 | p.Glu236Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000015.10:g.63062581G>C | NCI-TCGA Cosmic |
RCV000159384 | p.Arg238Trp | missense variant | Cardiomyopathy (CMYO) | NC_000015.10:g.63062585C>T | ClinVar |
rs397516386 | p.Arg238Trp | missense variant | - | NC_000015.10:g.63062585C>T | - |
RCV000024591 | p.Ala239Thr | missense variant | - | NC_000015.10:g.63062588G>A | ClinVar |
RCV000471524 | p.Ala239Thr | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63062588G>A | ClinVar |
rs199476318 | p.Ala239Thr | missense variant | - | NC_000015.10:g.63062588G>A | - |
RCV000036357 | p.Ala242Val | missense variant | - | NC_000015.10:g.63062598C>T | ClinVar |
rs397516387 | p.Ala242Val | missense variant | - | NC_000015.10:g.63062598C>T | gnomAD |
RCV000770516 | p.Arg244Lys | missense variant | Cardiomyopathy (CMYO) | NC_000015.10:g.63062604G>A | ClinVar |
RCV000036359 | p.Ser245Leu | missense variant | - | NC_000015.10:g.63062607C>T | ClinVar |
rs397516388 | p.Ser245Leu | missense variant | - | NC_000015.10:g.63062607C>T | - |
rs760516389 | p.Thr247Asn | missense variant | - | NC_000015.10:g.63062613C>A | ExAC |
RCV000159412 | p.Lys248Thr | missense variant | - | NC_000015.10:g.63062616A>C | ClinVar |
rs730881160 | p.Lys248Thr | missense variant | - | NC_000015.10:g.63062616A>C | - |
rs199476319 | p.Lys248Glu | missense variant | Left ventricular non-compaction 9 (LVNC9) | NC_000015.10:g.63062615A>G | UniProt,dbSNP |
VAR_070122 | p.Lys248Glu | missense variant | Left ventricular non-compaction 9 (LVNC9) | NC_000015.10:g.63062615A>G | UniProt |
RCV000054794 | p.Lys248Glu | missense variant | Left ventricular noncompaction 9 (LVNC9) | NC_000015.10:g.63062615A>G | ClinVar |
rs786204412 | p.Leu249Trp | missense variant | - | NC_000015.10:g.63062619T>G | - |
NCI-TCGA novel | p.Leu249Met | missense variant | - | NC_000015.10:g.63062618T>A | NCI-TCGA |
RCV000208366 | p.Leu249Trp | missense variant | Primary familial hypertrophic cardiomyopathy (HCM) | NC_000015.10:g.63062619T>G | ClinVar |
rs1288856499 | p.Lys251Thr | missense variant | - | NC_000015.10:g.63062625A>C | TOPMed |
rs1375629623 | p.Ser252Ile | missense variant | - | NC_000015.10:g.63062628G>T | TOPMed,gnomAD |
RCV000766951 | p.Asp254Glu | missense variant | - | NC_000015.10:g.63062635T>G | ClinVar |
rs727504354 | p.Asp254Glu | missense variant | - | NC_000015.10:g.63062635T>G | - |
rs727504354 | p.Asp254Glu | missense variant | - | NC_000015.10:g.63062635T>A | - |
RCV000223807 | p.Asp254Glu | missense variant | - | NC_000015.10:g.63062635T>A | ClinVar |
RCV000505777 | p.Asp254Glu | missense variant | - | NC_000015.10:g.63062635T>G | ClinVar |
RCV000036360 | p.Glu259Lys | missense variant | - | NC_000015.10:g.63064066G>A | ClinVar |
rs397516389 | p.Glu259Gln | missense variant | - | NC_000015.10:g.63064066G>C | ExAC,gnomAD |
RCV000159351 | p.Glu259Gln | missense variant | - | NC_000015.10:g.63064066G>C | ClinVar |
rs397516389 | p.Glu259Lys | missense variant | - | NC_000015.10:g.63064066G>A | ExAC,gnomAD |
rs758506771 | p.Ala262Ser | missense variant | - | NC_000015.10:g.63064075G>T | ExAC,TOPMed,gnomAD |
RCV000532880 | p.Ala262Thr | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064075G>A | ClinVar |
rs758506771 | p.Ala262Thr | missense variant | - | NC_000015.10:g.63064075G>A | ExAC,TOPMed,gnomAD |
RCV000768534 | p.Gln263Glu | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064078C>G | ClinVar |
rs730881147 | p.Gln263Glu | missense variant | - | NC_000015.10:g.63064078C>G | - |
RCV000159386 | p.Gln263Glu | missense variant | - | NC_000015.10:g.63064078C>G | ClinVar |
rs397516390 | p.Lys264Glu | missense variant | - | NC_000015.10:g.63064081A>G | - |
RCV000036361 | p.Lys264Glu | missense variant | - | NC_000015.10:g.63064081A>G | ClinVar |
RCV000822102 | p.Lys264Glu | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064081A>G | ClinVar |
rs371934474 | p.Lys266Arg | missense variant | - | NC_000015.10:g.63064088A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000154863 | p.Lys266Arg | missense variant | - | NC_000015.10:g.63064088A>G | ClinVar |
RCV000475992 | p.Lys266Arg | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064088A>G | ClinVar |
RCV000624321 | p.Lys266Arg | missense variant | Left ventricular noncompaction | NC_000015.10:g.63064088A>G | ClinVar |
rs1235668647 | p.Tyr267Cys | missense variant | - | NC_000015.10:g.63064091A>G | TOPMed |
RCV000612828 | p.Lys268Glu | missense variant | - | NC_000015.10:g.63064093A>G | ClinVar |
rs1555410433 | p.Lys268Glu | missense variant | - | NC_000015.10:g.63064093A>G | - |
rs1395706088 | p.Lys268Arg | missense variant | - | NC_000015.10:g.63064094A>G | gnomAD |
rs1342749492 | p.Ala269Gly | missense variant | - | NC_000015.10:g.63064097C>G | gnomAD |
rs1555410445 | p.Ile270Val | missense variant | - | NC_000015.10:g.63064099A>G | - |
RCV000538492 | p.Ile270Val | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064099A>G | ClinVar |
rs1278119163 | p.Ser271Asn | missense variant | - | NC_000015.10:g.63064103G>A | gnomAD |
rs755226348 | p.Glu272Lys | missense variant | - | NC_000015.10:g.63064105G>A | ExAC,TOPMed,gnomAD |
rs727503519 | p.Glu272Gly | missense variant | - | NC_000015.10:g.63064106A>G | - |
RCV000152123 | p.Glu272Ala | missense variant | - | NC_000015.10:g.63064106A>C | ClinVar |
rs727503519 | p.Glu272Ala | missense variant | - | NC_000015.10:g.63064106A>C | - |
RCV000505744 | p.Glu272Gly | missense variant | - | NC_000015.10:g.63064106A>G | ClinVar |
rs199476320 | p.Ala277Gly | missense variant | - | NC_000015.10:g.63064121C>G | TOPMed |
RCV000036365 | p.Ala277Gly | missense variant | - | NC_000015.10:g.63064121C>G | ClinVar |
RCV000024592 | p.Ala277Val | missense variant | - | NC_000015.10:g.63064121C>T | ClinVar |
rs149659674 | p.Ala277Thr | missense variant | - | NC_000015.10:g.63064120G>A | ESP,ExAC,TOPMed,gnomAD |
rs199476320 | p.Ala277Val | missense variant | - | NC_000015.10:g.63064121C>T | TOPMed |
RCV000766952 | p.Ala277Gly | missense variant | - | NC_000015.10:g.63064121C>G | ClinVar |
RCV000036362 | p.Ala277Thr | missense variant | - | NC_000015.10:g.63064120G>A | ClinVar |
rs730881161 | p.Leu278Val | missense variant | - | NC_000015.10:g.63064123C>G | gnomAD |
rs730881161 | p.Leu278Phe | missense variant | - | NC_000015.10:g.63064123C>T | gnomAD |
rs397516392 | p.Asn279His | missense variant | - | NC_000015.10:g.63064126A>C | - |
RCV000036366 | p.Asn279His | missense variant | - | NC_000015.10:g.63064126A>C | ClinVar |
RCV000788149 | p.Asn279His | missense variant | - | NC_000015.10:g.63064126A>C | ClinVar |
rs777635889 | p.Asp280Asn | missense variant | - | NC_000015.10:g.63064129G>A | ExAC,gnomAD |
RCV000036368 | p.Met281Val | missense variant | - | NC_000015.10:g.63064132A>G | ClinVar |
RCV000766955 | p.Met281Val | missense variant | - | NC_000015.10:g.63064132A>G | ClinVar |
RCV000553548 | p.Met281Val | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064132A>G | ClinVar |
rs199476321 | p.Met281Thr | missense variant | - | NC_000015.10:g.63064133T>C | TOPMed,gnomAD |
rs397516394 | p.Met281Val | missense variant | - | NC_000015.10:g.63064132A>G | ExAC,gnomAD |
RCV000154219 | p.Met281Thr | missense variant | - | NC_000015.10:g.63064133T>C | ClinVar |
rs397516395 | p.Thr282Ser | missense variant | - | NC_000015.10:g.63064136C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
RCV000310785 | p.Thr282Ser | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064136C>G | ClinVar |
rs745520822 | p.Ile284Thr | missense variant | - | NC_000015.10:g.63064142T>C | ExAC,gnomAD |
RCV000699606 | p.Ile284Val | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064141A>G | ClinVar |
RCV000498754 | p.Ile284Thr | missense variant | Hypertrophic cardiomyopathy | NC_000015.10:g.63064142T>C | ClinVar |
rs199476322 | p.Ile284Val | missense variant | - | NC_000015.10:g.63064141A>G | - |
rs759481997 | p.Ile284Met | missense variant | - | NC_000015.10:g.63065896A>G | ExAC,gnomAD |
RCV000152124 | p.Ile284Val | missense variant | - | NC_000015.10:g.63064141A>G | ClinVar |
RCV000024594 | p.Ile284Val | missense variant | - | NC_000015.10:g.63064141A>G | ClinVar |