14 | g.23419453G>C | CA2624230187 | MYH7 | c.3853+30C>G (n.3853+30C>G)
| gnomAD v4 |
14 | g.23419454G>C | CA2575504257 | MYH7 | c.3853+29C>G (n.3853+29C>G)
| |
14 | g.23419454G>T | CA2624230190 | MYH7 | c.3853+29C>A (n.3853+29C>A)
| gnomAD v4 |
14 | g.23419455_23419456insG | CA2800863552 | MYH7 | c.3853+27_3853+28insC (n.3853+27_3853+28insC)
| |
14 | g.23419456A= | CA2123444995 | MYH7 | c.3853+27T= (n.3853+27T=)
| |
14 | g.23419456A>C | CA2580603066 | MYH7 | c.3853+27T>G (n.3853+27T>G)
| |
14 | g.23419456A>G | CA2123444996 | MYH7 | c.3853+27T>C (n.3853+27T>C)
| dbSNP gnomAD v4 |
14 | g.23419456A>T | CA039157 | MYH7 | c.3853+27T>A (n.3853+27T>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419457C>T | CA2624230198 | MYH7 | c.3853+26G>A (n.3853+26G>A)
| gnomAD v4 |
14 | g.23419458C= | CA2123445003 | MYH7 | c.3853+25G= (n.3853+25G=)
| |
14 | g.23419458C>G | CA613318043 | MYH7 | c.3853+25G>C (n.3853+25G>C)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.23419458C>T | CA2123445004 | MYH7 | c.3853+25G>A (n.3853+25G>A)
| dbSNP |
14 | g.23419459A>C | CA2624230207 | MYH7 | c.3853+24T>G (n.3853+24T>G)
| gnomAD v4 |
14 | g.23419459A>G | CA2624230210 | MYH7 | c.3853+24T>C (n.3853+24T>C)
| gnomAD v4 |
14 | g.23419460T>C | CA257814886 | MYH7 | c.3853+23A>G (n.3853+23A>G)
| dbSNP gnomAD v4 |
14 | g.23419460T= | CA2123445006 | MYH7 | c.3853+23A= (n.3853+23A=)
| |
14 | g.23419460_23419461del | CA2800863554 | MYH7 | c.3853+22_3853+23del (n.3853+22_3853+23del)
| |
14 | g.23419462G>A | CA014154 | MYH7 | c.3853+21C>T (n.3853+21C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419462G>C | CA704287456 | MYH7 | c.3853+21C>G (n.3853+21C>G)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.23419462G= | CA2123445008 | MYH7 | c.3853+21C= (n.3853+21C=)
| |
14 | g.23419463A= | CA2123445011 | MYH7 | c.3853+20T= (n.3853+20T=)
| |
14 | g.23419463A>G | CA257814890 | MYH7 | c.3853+20T>C (n.3853+20T>C)
| dbSNP gnomAD v4 |
14 | g.23419463A>T | CA2800863556 | MYH7 | c.3853+20T>A (n.3853+20T>A)
| |
14 | g.23419464G>A | CA2739277786 | MYH7 | c.3853+19C>T (n.3853+19C>T)
| ClinVar |
14 | g.23419464G= | CA2123445014 | MYH7 | c.3853+19C= (n.3853+19C=)
| |
14 | g.23419464G>T | CA613318044 | MYH7 | c.3853+19C>A (n.3853+19C>A)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.23419465C>A | CA257814892 | MYH7 | c.3853+18G>T (n.3853+18G>T)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.23419465C= | CA2123445016 | MYH7 | c.3853+18G= (n.3853+18G=)
| |
14 | g.23419466C>A | CA039134 | MYH7 | c.3853+17G>T (n.3853+17G>T)
| dbSNP ExAC gnomAD v4 |
14 | g.23419466C= | CA2123445022 | MYH7 | c.3853+17G= (n.3853+17G=)
| |
14 | g.23419466C>T | CA613318045 | MYH7 | c.3853+17G>A (n.3853+17G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23419466_23419467insT | CA2800863558 | MYH7 | c.3853+16_3853+17insA (n.3853+16_3853+17insA)
| |
14 | g.23419467C>A | CA039123 | MYH7 | c.3853+16G>T (n.3853+16G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23419467C= | CA2123445028 | MYH7 | c.3853+16G= (n.3853+16G=)
| |
14 | g.23419467C>T | CA039118 | MYH7 | c.3853+16G>A (n.3853+16G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419469T>A | CA039109 | MYH7 | c.3853+14A>T (n.3853+14A>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419469T>G | CA2739277787 | MYH7 | c.3853+14A>C (n.3853+14A>C)
| ClinVar |
14 | g.23419469T= | CA2123445032 | MYH7 | c.3853+14A= (n.3853+14A=)
| |
14 | g.23419470G>A | CA2624230278 | MYH7 | c.3853+13C>T (n.3853+13C>T)
| gnomAD v4 |
14 | g.23419470G>T | CA2800863562 | MYH7 | c.3853+13C>A (n.3853+13C>A)
| |
14 | g.23419471C>T | CA2573149835 | MYH7 | c.3853+12G>A (n.3853+12G>A)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419472T>C | CA613318046 | MYH7 | c.3853+11A>G (n.3853+11A>G)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.23419472T>G | CA039093 | MYH7 | c.3853+11A>C (n.3853+11A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23419472T= | CA2123445038 | MYH7 | c.3853+11A= (n.3853+11A=)
| |
14 | g.23419473C= | CA2123445043 | MYH7 | c.3853+10G= (n.3853+10G=)
| |
14 | g.23419473C>G | CA039084 | MYH7 | c.3853+10G>C (n.3853+10G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419473C>T | CA2580088026 | MYH7 | c.3853+10G>A (n.3853+10G>A)
| ClinVar gnomAD v4 |
14 | g.23419473_23419474insA | CA2800863563 | MYH7 | c.3853+9_3853+10insT (n.3853+9_3853+10insT)
| |
14 | g.23419474T>C | CA039258 | MYH7 | c.3853+9A>G (n.3853+9A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419474T>G | CA2624230296 | MYH7 | c.3853+9A>C (n.3853+9A>C)
| gnomAD v4 |
14 | g.23419474T= | CA2123445048 | MYH7 | c.3853+9A= (n.3853+9A=)
| |
14 | g.23419474_23419475insCC | CA2800863564 | MYH7 | c.3853+8_3853+9insGG (n.3853+8_3853+9insGG)
| |
14 | g.23419475A= | CA2123445049 | MYH7 | c.3853+8T= (n.3853+8T=)
| |
14 | g.23419475A>G | CA2123445050 | MYH7 | c.3853+8T>C (n.3853+8T>C)
| dbSNP |
14 | g.23419476G>A | CA014162 | MYH7 | c.3853+7C>T (n.3853+7C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419476G= | CA2123445051 | MYH7 | c.3853+7C= (n.3853+7C=)
| |
14 | g.23419476_23419477insCTGCCGGGACA | CA2800863566 | MYH7 | c.3853+6_3853+7insTGTCCCGGCAG (n.3853+6_3853+7insTGTCCCGGCAG)
| |
14 | g.23419477G= | CA2123445054 | MYH7 | c.3853+6C= (n.3853+6C=)
| |
14 | g.23419477G>T | CA039239 | MYH7 | c.3853+6C>A (n.3853+6C>A)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
14 | g.23419480C= | CA2123445057 | MYH7 | c.3853+3G= (n.3853+3G=)
| |
14 | g.23419480C>T | CA039209 | MYH7 | c.3853+3G>A (n.3853+3G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23419481A>C | CA389041850 | MYH7 | c.3853+2T>G (n.3853+2T>G)
| |
14 | g.23419481A>G | CA389041847 | MYH7 | c.3853+2T>C (n.3853+2T>C)
| |
14 | g.23419481A>T | CA389041849 | MYH7 | c.3853+2T>A (n.3853+2T>A)
| |
14 | g.23419482C>A | CA389041852 | MYH7 | c.3853+1G>T (n.3853+1G>T)
| COSMIC |
14 | g.23419482C= | CA2123445063 | MYH7 | c.3853+1G= (n.3853+1G=)
| |
14 | g.23419482C>G | CA389041853 | MYH7 | c.3853+1G>C (n.3853+1G>C)
| gnomAD v4 |
14 | g.23419482C>T | CA039140 | MYH7 | c.3853+1G>A (n.3853+1G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419483C>A | CA389041859 | MYH7 | c.3853G>T (p.Gly1285Cys)
| |
14 | g.23419483C>G | CA389041857 | MYH7 | c.3853G>C (p.Gly1285Arg)
| |
14 | g.23419483C>T | CA389041856 | MYH7 | c.3853G>A (p.Gly1285Ser)
| gnomAD v4 |
14 | g.23419484A= | CA2123445067 | MYH7 | c.3852T= (p.Asn1284=)
| |
14 | g.23419484A>C | CA389041861 | MYH7 | c.3852T>G (p.Asn1284Lys)
| |
14 | g.23419484A>G | CA039080 | MYH7 | c.3852T>C (p.Asn1284=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419484A>T | CA389041862 | MYH7 | c.3852T>A (p.Asn1284Lys)
| |
14 | g.23419485T>A | CA389041864 | MYH7 | c.3851A>T (p.Asn1284Ile)
| |
14 | g.23419485T>C | CA389041865 | MYH7 | c.3851A>G (p.Asn1284Ser)
| |
14 | g.23419485T>G | CA389041867 | MYH7 | c.3851A>C (p.Asn1284Thr)
| |
14 | g.23419486T>A | CA389041869 | MYH7 | c.3850A>T (p.Asn1284Tyr)
| |
14 | g.23419486T>C | CA389041871 | MYH7 | c.3850A>G (p.Asn1284Asp)
| gnomAD v4 |
14 | g.23419486T>G | CA389041870 | MYH7 | c.3850A>C (p.Asn1284His)
| |
14 | g.23419487C>A | CA389041873 | MYH7 | c.3849G>T (p.Glu1283Asp)
| |
14 | g.23419487C>G | CA389041874 | MYH7 | c.3849G>C (p.Glu1283Asp)
| |
14 | g.23419487C>T | CA485620323 | MYH7 | c.3849G>A (p.Glu1283=)
| gnomAD v4 |
14 | g.23419488T>A | CA389041876 | MYH7 | c.3848A>T (p.Glu1283Val)
| |
14 | g.23419488T>C | CA389041878 | MYH7 | c.3848A>G (p.Glu1283Gly)
| |
14 | g.23419488T>G | CA389041879 | MYH7 | c.3848A>C (p.Glu1283Ala)
| |
14 | g.23419489C>A | CA389041880 | MYH7 | c.3847G>T (p.Glu1283Ter)
| |
14 | g.23419489C= | CA2123445074 | MYH7 | c.3847G= (p.Glu1283=)
| |
14 | g.23419489C>G | CA389041882 | MYH7 | c.3847G>C (p.Glu1283Gln)
| ClinVar |
14 | g.23419489C>T | CA389041884 | MYH7 | c.3847G>A (p.Glu1283Lys)
| ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23419490G>A | CA485620332 | MYH7 | c.3846C>T (p.Thr1282=)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419490G>C | CA257814940 | MYH7 | c.3846C>G (p.Thr1282=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23419490G= | CA2123445081 | MYH7 | c.3846C= (p.Thr1282=)
| |
14 | g.23419490G>T | CA485620334 | MYH7 | c.3846C>A (p.Thr1282=)
| ClinVar dbSNP |
14 | g.23419490_23419498del | CA2800863570 | MYH7 | c.3838_3846del (p.Leu1280_Thr1282del)
| |
14 | g.23419491G>A | CA389041886 | MYH7 | c.3845C>T (p.Thr1282Ile)
| gnomAD v4 |
14 | g.23419491G>C | CA389041887 | MYH7 | c.3845C>G (p.Thr1282Ser)
| |
14 | g.23419491G>T | CA389041889 | MYH7 | c.3845C>A (p.Thr1282Asn)
| |
14 | g.23419492T>A | CA389041892 | MYH7 | c.3844A>T (p.Thr1282Ser)
| |
14 | g.23419492T>C | CA389041894 | MYH7 | c.3844A>G (p.Thr1282Ala)
| gnomAD v4 |
14 | g.23419492T>G | CA389041891 | MYH7 | c.3844A>C (p.Thr1282Pro)
| |
14 | g.23419492T= | CA2123445088 | MYH7 | c.3844A= (p.Thr1282=)
| |
14 | g.23419493T>A | CA389041897 | MYH7 | c.3843A>T (p.Gln1281His)
| ClinVar gnomAD v4 |
14 | g.23419493T>C | CA485620346 | MYH7 | c.3843A>G (p.Gln1281=)
| dbSNP |
14 | g.23419493T>G | CA389041895 | MYH7 | c.3843A>C (p.Gln1281His)
| gnomAD v4 |
14 | g.23419493T= | CA2123445092 | MYH7 | c.3843A= (p.Gln1281=)
| |
14 | g.23419494T>A | CA389041901 | MYH7 | c.3842A>T (p.Gln1281Leu)
| |
14 | g.23419494T>C | CA389041899 | MYH7 | c.3842A>G (p.Gln1281Arg)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419494T>G | CA389041900 | MYH7 | c.3842A>C (p.Gln1281Pro)
| |
14 | g.23419495G>A | CA389041904 | MYH7 | c.3841C>T (p.Gln1281Ter)
| |
14 | g.23419495G>C | CA389041906 | MYH7 | c.3841C>G (p.Gln1281Glu)
| |
14 | g.23419495G>T | CA389041907 | MYH7 | c.3841C>A (p.Gln1281Lys)
| |
14 | g.23419496C>A | CA389041908 | MYH7 | c.3840G>T (p.Leu1280Phe)
| |
14 | g.23419496C>G | CA389041910 | MYH7 | c.3840G>C (p.Leu1280Phe)
| |
14 | g.23419496C>T | CA485620360 | MYH7 | c.3840G>A (p.Leu1280=)
| |
14 | g.23419497A>C | CA389041912 | MYH7 | c.3839T>G (p.Leu1280Trp)
| |
14 | g.23419497A>G | CA389041918 | MYH7 | c.3839T>C (p.Leu1280Ser)
| |
14 | g.23419497A>T | CA389041916 | MYH7 | c.3839T>A (p.Leu1280Ter)
| |
14 | g.23419498A= | CA2123445094 | MYH7 | c.3838T= (p.Leu1280=)
| |
14 | g.23419498A>C | CA389041920 | MYH7 | c.3838T>G (p.Leu1280Val)
| |
14 | g.23419498A>G | CA485620366 | MYH7 | c.3838T>C (p.Leu1280=)
| dbSNP |
14 | g.23419498A>T | CA389041921 | MYH7 | c.3838T>A (p.Leu1280Met)
| |
14 | g.23419499C>A | CA389041923 | MYH7 | c.3837G>T (p.Lys1279Asn)
| |
14 | g.23419499C>G | CA389041925 | MYH7 | c.3837G>C (p.Lys1279Asn)
| ClinVar dbSNP |
14 | g.23419499C>T | CA485620369 | MYH7 | c.3837G>A (p.Lys1279=)
| |
14 | g.23419500T>A | CA389041926 | MYH7 | c.3836A>T (p.Lys1279Met)
| |
14 | g.23419500T>C | CA389041929 | MYH7 | c.3836A>G (p.Lys1279Arg)
| dbSNP gnomAD v2 |
14 | g.23419500T>G | CA389041927 | MYH7 | c.3836A>C (p.Lys1279Thr)
| |
14 | g.23419500T= | CA2123445098 | MYH7 | c.3836A= (p.Lys1279=)
| |
14 | g.23419501T>A | CA389041931 | MYH7 | c.3835A>T (p.Lys1279Ter)
| |
14 | g.23419501T>C | CA389041932 | MYH7 | c.3835A>G (p.Lys1279Glu)
| |
14 | g.23419501T>G | CA389041934 | MYH7 | c.3835A>C (p.Lys1279Gln)
| |
14 | g.23419502G>A | CA485620378 | MYH7 | c.3834C>T (p.Ala1278=)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419502G>C | CA485620379 | MYH7 | c.3834C>G (p.Ala1278=)
| |
14 | g.23419502G= | CA2123445106 | MYH7 | c.3834C= (p.Ala1278=)
| |
14 | g.23419502G>T | CA485620381 | MYH7 | c.3834C>A (p.Ala1278=)
| |
14 | g.23419502_23419506delinsGGCCC | CA2123445102 | MYH7 | c.3830_3834delinsGGGCC (p.Arg1277=)
| |
14 | g.23419503G>A | CA389041936 | MYH7 | c.3833C>T (p.Ala1278Val)
| |
14 | g.23419503G>C | CA389041938 | MYH7 | c.3833C>G (p.Ala1278Gly)
| |
14 | g.23419503G= | CA2123445112 | MYH7 | c.3833C= (p.Ala1278=)
| |
14 | g.23419503G>T | CA389041939 | MYH7 | c.3833C>A (p.Ala1278Asp)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419505_23419508del | CA039054 | MYH7 | c.3830_3833del (p.Arg1277ProfsTer20)
| dbSNP ExAC gnomAD v4 |
14 | g.23419504C>A | CA389041941 | MYH7 | c.3832G>T (p.Ala1278Ser)
| dbSNP |
14 | g.23419504C= | CA2123445115 | MYH7 | c.3832G= (p.Ala1278=)
| |
14 | g.23419504C>G | CA389041943 | MYH7 | c.3832G>C (p.Ala1278Pro)
| |
14 | g.23419504C>T | CA389041944 | MYH7 | c.3832G>A (p.Ala1278Thr)
| gnomAD v4 |
14 | g.23419505C>A | CA485620391 | MYH7 | c.3831G>T (p.Arg1277=)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419505C= | CA2123445116 | MYH7 | c.3831G= (p.Arg1277=)
| |
14 | g.23419505C>G | CA485620393 | MYH7 | c.3831G>C (p.Arg1277=)
| |
14 | g.23419505C>T | CA485620400 | MYH7 | c.3831G>A (p.Arg1277=)
| |
14 | g.23419506C>A | CA389041946 | MYH7 | c.3830G>T (p.Arg1277Leu)
| dbSNP |
14 | g.23419506C= | CA2123445123 | MYH7 | c.3830G= (p.Arg1277=)
| |
14 | g.23419506C>G | CA070665 | MYH7 | c.3830G>C (p.Arg1277Pro)
| ClinVar dbSNP |
14 | g.23419506C>T | CA014144 | MYH7 | c.3830G>A (p.Arg1277Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23419507G>A | CA039045 | MYH7 | c.3829C>T (p.Arg1277Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23419507G>C | CA389041949 | MYH7 | c.3829C>G (p.Arg1277Gly)
| |
14 | g.23419507G= | CA2123445133 | MYH7 | c.3829C= (p.Arg1277=)
| |
14 | g.23419507G>T | CA014138 | MYH7 | c.3829C>A (p.Arg1277=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419508C>A | CA389041951 | MYH7 | c.3828G>T (p.Gln1276His)
| |
14 | g.23419508C= | CA2123445164 | MYH7 | c.3828G= (p.Gln1276=)
| |
14 | g.23419508C>G | CA389041953 | MYH7 | c.3828G>C (p.Gln1276His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23419508C>T | CA485620409 | MYH7 | c.3828G>A (p.Gln1276=)
| |
14 | g.23419509T>A | CA389041955 | MYH7 | c.3827A>T (p.Gln1276Leu)
| |
14 | g.23419509T>C | CA389041956 | MYH7 | c.3827A>G (p.Gln1276Arg)
| |
14 | g.23419509T>G | CA389041958 | MYH7 | c.3827A>C (p.Gln1276Pro)
| |
14 | g.23419510G>A | CA389041959 | MYH7 | c.3826C>T (p.Gln1276Ter)
| |
14 | g.23419510G>C | CA389041960 | MYH7 | c.3826C>G (p.Gln1276Glu)
| |
14 | g.23419510G>T | CA389041961 | MYH7 | c.3826C>A (p.Gln1276Lys)
| |
14 | g.23419511G>A | CA485620420 | MYH7 | c.3825C>T (p.Ser1275=)
| |
14 | g.23419511G>C | CA389041963 | MYH7 | c.3825C>G (p.Ser1275Arg)
| ClinVar gnomAD v4 |
14 | g.23419511G>T | CA389041965 | MYH7 | c.3825C>A (p.Ser1275Arg)
| |
14 | g.23419512C>A | CA389041968 | MYH7 | c.3824G>T (p.Ser1275Ile)
| |
14 | g.23419512C= | CA2123445170 | MYH7 | c.3824G= (p.Ser1275=)
| |
14 | g.23419512C>G | CA389041966 | MYH7 | c.3824G>C (p.Ser1275Thr)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.23419512C>T | CA389041967 | MYH7 | c.3824G>A (p.Ser1275Asn)
| |
14 | g.23419512_23419524delinsCTGGTGAGGTCGT | CA2123445174 | MYH7 | c.3812_3824delinsACGACCTCACCAG (p.Asn1271=)
| |
14 | g.23419513T>A | CA389041969 | MYH7 | c.3823A>T (p.Ser1275Cys)
| COSMIC |
14 | g.23419513T>C | CA389041970 | MYH7 | c.3823A>G (p.Ser1275Gly)
| |
14 | g.23419513T>G | CA014129 | MYH7 | c.3823A>C (p.Ser1275Arg)
| ClinVar dbSNP |
14 | g.23419513T= | CA2123445185 | MYH7 | c.3823A= (p.Ser1275=)
| |
14 | g.23419515_23419526del | CA658798189 | MYH7 | c.3812_3823del (p.Asn1271_Thr1274del)
| ClinVar dbSNP |
14 | g.23419514G>A | CA485620431 | MYH7 | c.3822C>T (p.Thr1274=)
| |
14 | g.23419514G>C | CA485620433 | MYH7 | c.3822C>G (p.Thr1274=)
| |
14 | g.23419514G>T | CA485620435 | MYH7 | c.3822C>A (p.Thr1274=)
| |
14 | g.23419515G>A | CA389041972 | MYH7 | c.3821C>T (p.Thr1274Ile)
| gnomAD v4 |
14 | g.23419515G>C | CA389041974 | MYH7 | c.3821C>G (p.Thr1274Ser)
| |
14 | g.23419515G= | CA2123445189 | MYH7 | c.3821C= (p.Thr1274=)
| |
14 | g.23419515G>T | CA389041976 | MYH7 | c.3821C>A (p.Thr1274Asn)
| dbSNP |
14 | g.23419516T>A | CA389041977 | MYH7 | c.3820A>T (p.Thr1274Ser)
| |
14 | g.23419516T>C | CA389041978 | MYH7 | c.3820A>G (p.Thr1274Ala)
| |
14 | g.23419516T>G | CA389041980 | MYH7 | c.3820A>C (p.Thr1274Pro)
| dbSNP gnomAD v2 |
14 | g.23419516T= | CA2123445193 | MYH7 | c.3820A= (p.Thr1274=)
| |
14 | g.23419517G>A | CA485620444 | MYH7 | c.3819C>T (p.Leu1273=)
| ClinVar dbSNP |
14 | g.23419517G>C | CA485620448 | MYH7 | c.3819C>G (p.Leu1273=)
| |
14 | g.23419517G>T | CA485620446 | MYH7 | c.3819C>A (p.Leu1273=)
| gnomAD v4 |
14 | g.23419518A>C | CA389041982 | MYH7 | c.3818T>G (p.Leu1273Arg)
| |
14 | g.23419518A>G | CA389041984 | MYH7 | c.3818T>C (p.Leu1273Pro)
| |
14 | g.23419518A>T | CA389041985 | MYH7 | c.3818T>A (p.Leu1273His)
| |
14 | g.23419519G>A | CA389041990 | MYH7 | c.3817C>T (p.Leu1273Phe)
| dbSNP gnomAD v4 |
14 | g.23419519G>C | CA389041988 | MYH7 | c.3817C>G (p.Leu1273Val)
| |
14 | g.23419519G>T | CA389041986 | MYH7 | c.3817C>A (p.Leu1273Ile)
| |
14 | g.23419520G>A | CA485620454 | MYH7 | c.3816C>T (p.Asp1272=)
| |
14 | g.23419520G>C | CA389041993 | MYH7 | c.3816C>G (p.Asp1272Glu)
| |
14 | g.23419520G>T | CA389041991 | MYH7 | c.3816C>A (p.Asp1272Glu)
| |
14 | g.23419522_23419524del | CA2739277789 | MYH7 | c.3814_3816del (p.Asp1272del)
| ClinVar |
14 | g.23419521T>A | CA389041996 | MYH7 | c.3815A>T (p.Asp1272Val)
| |
14 | g.23419521T>C | CA389041994 | MYH7 | c.3815A>G (p.Asp1272Gly)
| |
14 | g.23419521T>G | CA389041995 | MYH7 | c.3815A>C (p.Asp1272Ala)
| dbSNP |
14 | g.23419521T= | CA2123445198 | MYH7 | c.3815A= (p.Asp1272=)
| |
14 | g.23419522C>A | CA389041997 | MYH7 | c.3814G>T (p.Asp1272Tyr)
| |
14 | g.23419522C= | CA2123445203 | MYH7 | c.3814G= (p.Asp1272=)
| |
14 | g.23419522C>G | CA389041999 | MYH7 | c.3814G>C (p.Asp1272His)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419522C>T | CA014120 | MYH7 | c.3814G>A (p.Asp1272Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23419523G>A | CA039023 | MYH7 | c.3813C>T (p.Asn1271=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23419523G>C | CA389042001 | MYH7 | c.3813C>G (p.Asn1271Lys)
| |
14 | g.23419523G= | CA2123445209 | MYH7 | c.3813C= (p.Asn1271=)
| |
14 | g.23419523G>T | CA389042003 | MYH7 | c.3813C>A (p.Asn1271Lys)
| |
14 | g.23419524T>A | CA389042005 | MYH7 | c.3812A>T (p.Asn1271Ile)
| |
14 | g.23419524T>C | CA014115 | MYH7 | c.3812A>G (p.Asn1271Ser)
| ClinVar dbSNP |
14 | g.23419524T>G | CA389042007 | MYH7 | c.3812A>C (p.Asn1271Thr)
| COSMIC |
14 | g.23419524T= | CA2123445213 | MYH7 | c.3812A= (p.Asn1271=)
| |
14 | g.23419525T>A | CA389042012 | MYH7 | c.3811A>T (p.Asn1271Tyr)
| gnomAD v4 |
14 | g.23419525T>C | CA389042010 | MYH7 | c.3811A>G (p.Asn1271Asp)
| |
14 | g.23419525T>G | CA389042009 | MYH7 | c.3811A>C (p.Asn1271His)
| |
14 | g.23419526G>A | CA485620477 | MYH7 | c.3810C>T (p.Val1270=)
| dbSNP |
14 | g.23419526G>C | CA485620479 | MYH7 | c.3810C>G (p.Val1270=)
| |
14 | g.23419526G= | CA2123445220 | MYH7 | c.3810C= (p.Val1270=)
| |
14 | g.23419526G>T | CA485620480 | MYH7 | c.3810C>A (p.Val1270=)
| ClinVar gnomAD v4 |
14 | g.23419527A= | CA2123445222 | MYH7 | c.3809T= (p.Val1270=)
| |
14 | g.23419527A>C | CA389042013 | MYH7 | c.3809T>G (p.Val1270Gly)
| |
14 | g.23419527A>G | CA039008 | MYH7 | c.3809T>C (p.Val1270Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419527A>T | CA389042014 | MYH7 | c.3809T>A (p.Val1270Asp)
| |
14 | g.23419528C>A | CA389042017 | MYH7 | c.3808G>T (p.Val1270Phe)
| gnomAD v4 |
14 | g.23419528C>G | CA389042018 | MYH7 | c.3808G>C (p.Val1270Leu)
| ClinVar |
14 | g.23419528C>T | CA389042020 | MYH7 | c.3808G>A (p.Val1270Ile)
| |
14 | g.23419529A= | CA2123445231 | MYH7 | c.3807T= (p.Ser1269=)
| |
14 | g.23419529A>C | CA485620490 | MYH7 | c.3807T>G (p.Ser1269=)
| |
14 | g.23419529A>G | CA485620491 | MYH7 | c.3807T>C (p.Ser1269=)
| ClinVar dbSNP |
14 | g.23419529A>T | CA485620494 | MYH7 | c.3807T>A (p.Ser1269=)
| |
14 | g.23419530G>A | CA389042021 | MYH7 | c.3806C>T (p.Ser1269Phe)
| |
14 | g.23419530G>C | CA389042022 | MYH7 | c.3806C>G (p.Ser1269Cys)
| |
14 | g.23419530G>T | CA389042023 | MYH7 | c.3806C>A (p.Ser1269Tyr)
| |
14 | g.23419531A>C | CA389042025 | MYH7 | c.3805T>G (p.Ser1269Ala)
| |
14 | g.23419531A>G | CA389042027 | MYH7 | c.3805T>C (p.Ser1269Pro)
| |
14 | g.23419531A>T | CA389042028 | MYH7 | c.3805T>A (p.Ser1269Thr)
| |
14 | g.23419532A= | CA2123445240 | MYH7 | c.3804T= (p.Arg1268=)
| |
14 | g.23419532A>C | CA485620507 | MYH7 | c.3804T>G (p.Arg1268=)
| |
14 | g.23419532A>G | CA485620503 | MYH7 | c.3804T>C (p.Arg1268=)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419532A>T | CA485620505 | MYH7 | c.3804T>A (p.Arg1268=)
| |
14 | g.23419533C>A | CA389042030 | MYH7 | c.3803G>T (p.Arg1268Leu)
| |
14 | g.23419533C= | CA2123445249 | MYH7 | c.3803G= (p.Arg1268=)
| |
14 | g.23419533C>G | CA014107 | MYH7 | c.3803G>C (p.Arg1268Pro)
| ClinVar dbSNP |
14 | g.23419533C>T | CA014102 | MYH7 | c.3803G>A (p.Arg1268His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419534G>A | CA389042033 | MYH7 | c.3802C>T (p.Arg1268Cys)
| ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23419534G>C | CA389042034 | MYH7 | c.3802C>G (p.Arg1268Gly)
| |
14 | g.23419534G= | CA2123445265 | MYH7 | c.3802C= (p.Arg1268=)
| |
14 | g.23419534G>T | CA389042035 | MYH7 | c.3802C>A (p.Arg1268Ser)
| gnomAD v4 |
14 | g.23419535C>A | CA389042037 | MYH7 | c.3801G>T (p.Gln1267His)
| |
14 | g.23419535C= | CA2123445278 | MYH7 | c.3801G= (p.Gln1267=)
| |
14 | g.23419535C>G | CA038976 | MYH7 | c.3801G>C (p.Gln1267His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419535C>T | CA16606534 | MYH7 | c.3801G>A (p.Gln1267=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23419536T>A | CA389042042 | MYH7 | c.3800A>T (p.Gln1267Leu)
| |
14 | g.23419536T>C | CA389042041 | MYH7 | c.3800A>G (p.Gln1267Arg)
| |
14 | g.23419536T>G | CA389042040 | MYH7 | c.3800A>C (p.Gln1267Pro)
| |
14 | g.23419537G>A | CA389042043 | MYH7 | c.3799C>T (p.Gln1267Ter)
| ClinVar dbSNP |
14 | g.23419537G>C | CA389042045 | MYH7 | c.3799C>G (p.Gln1267Glu)
| |
14 | g.23419537G>T | CA389042047 | MYH7 | c.3799C>A (p.Gln1267Lys)
| |
14 | g.23419538G>A | CA485620523 | MYH7 | c.3798C>T (p.Thr1266=)
| gnomAD v4 |
14 | g.23419538G>C | CA485620524 | MYH7 | c.3798C>G (p.Thr1266=)
| ClinVar |
14 | g.23419538G= | CA2123445282 | MYH7 | c.3798C= (p.Thr1266=)
| |
14 | g.23419538G>T | CA485620526 | MYH7 | c.3798C>A (p.Thr1266=)
| dbSNP |
14 | g.23419539G>A | CA389042049 | MYH7 | c.3797C>T (p.Thr1266Ile)
| ClinVar |
14 | g.23419539G>C | CA389042050 | MYH7 | c.3797C>G (p.Thr1266Ser)
| ClinVar dbSNP gnomAD v4 |
14 | g.23419539G= | CA2123445288 | MYH7 | c.3797C= (p.Thr1266=)
| |
14 | g.23419539G>T | CA038945 | MYH7 | c.3797C>A (p.Thr1266Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23419540T>A | CA389042051 | MYH7 | c.3796A>T (p.Thr1266Ser)
| |
14 | g.23419540T>C | CA389042054 | MYH7 | c.3796A>G (p.Thr1266Ala)
| gnomAD v4 |
14 | g.23419540T>G | CA389042053 | MYH7 | c.3796A>C (p.Thr1266Pro)
| dbSNP |
14 | g.23419540T= | CA2123445294 | MYH7 | c.3796A= (p.Thr1266=)
| |
14 | g.23419541C>A | CA389042056 | MYH7 | c.3795G>T (p.Glu1265Asp)
| |
14 | g.23419541C>G | CA389042057 | MYH7 | c.3795G>C (p.Glu1265Asp)
| |
14 | g.23419541C>T | CA485620532 | MYH7 | c.3795G>A (p.Glu1265=)
| ClinVar dbSNP |
14 | g.23419542T>A | CA389042058 | MYH7 | c.3794A>T (p.Glu1265Val)
| |
14 | g.23419542T>C | CA389042060 | MYH7 | c.3794A>G (p.Glu1265Gly)
| |
14 | g.23419542T>G | CA389042062 | MYH7 | c.3794A>C (p.Glu1265Ala)
| |
14 | g.23419543C>A | CA389042064 | MYH7 | c.3793G>T (p.Glu1265Ter)
| |
14 | g.23419543C>G | CA389042065 | MYH7 | c.3793G>C (p.Glu1265Gln)
| |
14 | g.23419543C>T | CA389042066 | MYH7 | c.3793G>A (p.Glu1265Lys)
| COSMIC |
14 | g.23419544C>A | CA389042068 | MYH7 | c.3792G>T (p.Glu1264Asp)
| |
14 | g.23419544C>G | CA389042070 | MYH7 | c.3792G>C (p.Glu1264Asp)
| |
14 | g.23419544C>T | CA485620538 | MYH7 | c.3792G>A (p.Glu1264=)
| |
14 | g.23419545T>A | CA389042072 | MYH7 | c.3791A>T (p.Glu1264Val)
| |
14 | g.23419545T>C | CA389042073 | MYH7 | c.3791A>G (p.Glu1264Gly)
| |
14 | g.23419545T>G | CA389042074 | MYH7 | c.3791A>C (p.Glu1264Ala)
| |
14 | g.23419546C>A | CA389042078 | MYH7 | c.3790G>T (p.Glu1264Ter)
| |
14 | g.23419546C>G | CA389042080 | MYH7 | c.3790G>C (p.Glu1264Gln)
| |
14 | g.23419546C>T | CA389042076 | MYH7 | c.3790G>A (p.Glu1264Lys)
| |
14 | g.23419547del | CA2573149837 | MYH7 | c.3790del (p.Glu1264ArgfsTer?)
| ClinVar dbSNP |
14 | g.23419547C>A | CA038913 | MYH7 | c.3789G>T (p.Ala1263=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419547C= | CA2123445304 | MYH7 | c.3789G= (p.Ala1263=)
| |
14 | g.23419547C>G | CA038905 | MYH7 | c.3789G>C (p.Ala1263=)
| dbSNP ExAC gnomAD v2 |
14 | g.23419547C>T | CA038883 | MYH7 | c.3789G>A (p.Ala1263=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23419548G>A | CA389042619 | MYH7 | c.3788C>T (p.Ala1263Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23419548G>C | CA389042621 | MYH7 | c.3788C>G (p.Ala1263Gly)
| |
14 | g.23419548G= | CA2123445325 | MYH7 | c.3788C= (p.Ala1263=)
| |
14 | g.23419548G>T | CA038858 | MYH7 | c.3788C>A (p.Ala1263Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23419549C>A | CA389042626 | MYH7 | c.3787G>T (p.Ala1263Ser)
| |
14 | g.23419549C= | CA2123445331 | MYH7 | c.3787G= (p.Ala1263=)
| |
14 | g.23419549C>G | CA389042624 | MYH7 | c.3787G>C (p.Ala1263Pro)
| |
14 | g.23419549C>T | CA389042623 | MYH7 | c.3787G>A (p.Ala1263Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23419550C>A | CA389042628 | MYH7 | c.3786G>T (p.Lys1262Asn)
| |
14 | g.23419550C= | CA2123445339 | MYH7 | c.3786G= (p.Lys1262=)
| |
14 | g.23419550C>G | CA389042630 | MYH7 | c.3786G>C (p.Lys1262Asn)
| |
14 | g.23419550C>T | CA257815010 | MYH7 | c.3786G>A (p.Lys1262=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23419551T>A | CA389042631 | MYH7 | c.3785A>T (p.Lys1262Met)
| |
14 | g.23419551T>C | CA389042633 | MYH7 | c.3785A>G (p.Lys1262Arg)
| |
14 | g.23419551T>G | CA389042635 | MYH7 | c.3785A>C (p.Lys1262Thr)
| |
14 | g.23419552T>A | CA389042639 | MYH7 | c.3784A>T (p.Lys1262Ter)
| |
14 | g.23419552T>C | CA389042636 | MYH7 | c.3784A>G (p.Lys1262Glu)
| gnomAD v4 |
14 | g.23419552T>G | CA389042637 | MYH7 | c.3784A>C (p.Lys1262Gln)
| |
14 | g.23419553G>A | CA485766377 | MYH7 | c.3783C>T (p.Ser1261=)
| gnomAD v4 |
14 | g.23419553G>C | CA389042641 | MYH7 | c.3783C>G (p.Ser1261Arg)
| ClinVar dbSNP |
14 | g.23419553G= | CA2123445347 | MYH7 | c.3783C= (p.Ser1261=)
| |
14 | g.23419553G>T | CA389042643 | MYH7 | c.3783C>A (p.Ser1261Arg)
| |