Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.96144670C>A | CA371749619 | GDF6 | c.1261G>T (p.Val421Leu) c.801G>T (p.Ala267=) c.1010G>T (p.Arg337Leu) c.862G>T (p.Val288Leu) | |
8 | g.96144670C= | CA1804260705 | GDF6 | c.1261G= (p.Val421=) c.801G= (p.Ala267=) c.1010G= (p.Arg337=) c.862G= (p.Val288=) | |
8 | g.96144670C>G | CA371749620 | GDF6 | c.1261G>C (p.Val421Leu) c.801G>C (p.Ala267=) c.1010G>C (p.Arg337Pro) c.862G>C (p.Val288Leu) | |
8 | g.96144670C>T | CA371749621 | GDF6 | c.1261G>A (p.Val421Met) c.801G>A (p.Ala267=) c.1010G>A (p.Arg337His) c.862G>A (p.Val288Met) | dbSNP gnomAD v2 COSMIC |
8 | g.96144671G>A | CA4815348 | GDF6 | c.1260C>T (p.Cys420=) c.800C>T (p.Ala267Val) c.1009C>T (p.Arg337Cys) c.861C>T (p.Cys287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144671G>C | CA371749622 | GDF6 | c.1260C>G (p.Cys420Trp) c.800C>G (p.Ala267Gly) c.1009C>G (p.Arg337Gly) c.861C>G (p.Cys287Trp) | |
8 | g.96144671G= | CA1804260712 | GDF6 | c.1260C= (p.Cys420=) c.800C= (p.Ala267=) c.1009C= (p.Arg337=) c.861C= (p.Cys287=) | |
8 | g.96144671G>T | CA371749623 | GDF6 | c.1260C>A (p.Cys420Ter) c.800C>A (p.Ala267Glu) c.1009C>A (p.Arg337Ser) c.861C>A (p.Cys287Ter) | |
8 | g.96144672C>A | CA371749624 | GDF6 | c.1259G>T (p.Cys420Phe) c.799G>T (p.Ala267Ser) c.1008G>T (p.Leu336=) c.860G>T (p.Cys287Phe) | |
8 | g.96144672C>G | CA371749626 | GDF6 | c.1259G>C (p.Cys420Ser) c.799G>C (p.Ala267Pro) c.1008G>C (p.Leu336=) c.860G>C (p.Cys287Ser) | |
8 | g.96144672C>T | CA371749625 | GDF6 | c.1259G>A (p.Cys420Tyr) c.799G>A (p.Ala267Thr) c.1008G>A (p.Leu336=) c.860G>A (p.Cys287Tyr) | |
8 | g.96144673A>C | CA371749627 | GDF6 | c.1258T>G (p.Cys420Gly) c.798T>G (p.Ala266=) c.1007T>G (p.Leu336Arg) c.859T>G (p.Cys287Gly) | |
8 | g.96144673A>G | CA371749628 | GDF6 | c.1258T>C (p.Cys420Arg) c.798T>C (p.Ala266=) c.1007T>C (p.Leu336Pro) c.859T>C (p.Cys287Arg) | |
8 | g.96144673A>T | CA371749629 | GDF6 | c.1258T>A (p.Cys420Ser) c.798T>A (p.Ala266=) c.1007T>A (p.Leu336Gln) c.859T>A (p.Cys287Ser) | |
8 | g.96144674G>A | CA371749630 | GDF6 | c.1257C>T (p.Cys419=) c.797C>T (p.Ala266Val) c.1006C>T (p.Leu336=) c.858C>T (p.Cys286=) | |
8 | g.96144674G>C | CA371749631 | GDF6 | c.1257C>G (p.Cys419Trp) c.797C>G (p.Ala266Gly) c.1006C>G (p.Leu336Val) c.858C>G (p.Cys286Trp) | |
8 | g.96144674G>T | CA371749632 | GDF6 | c.1257C>A (p.Cys419Ter) c.797C>A (p.Ala266Asp) c.1006C>A (p.Leu336Met) c.858C>A (p.Cys286Ter) | |
8 | g.96144675C>A | CA371749633 | GDF6 | c.1256G>T (p.Cys419Phe) c.796G>T (p.Ala266Ser) c.1005G>T (p.Leu335=) c.857G>T (p.Cys286Phe) | |
8 | g.96144675C>G | CA371749634 | GDF6 | c.1256G>C (p.Cys419Ser) c.796G>C (p.Ala266Pro) c.1005G>C (p.Leu335=) c.857G>C (p.Cys286Ser) | |
8 | g.96144675C>T | CA371749635 | GDF6 | c.1256G>A (p.Cys419Tyr) c.796G>A (p.Ala266Thr) c.1005G>A (p.Leu335=) c.857G>A (p.Cys286Tyr) | COSMIC |
8 | g.96144676A>C | CA371749636 | GDF6 | c.1255T>G (p.Cys419Gly) c.795T>G (p.Ala265=) c.1004T>G (p.Leu335Arg) c.856T>G (p.Cys286Gly) | |
8 | g.96144676A>G | CA371749637 | GDF6 | c.1255T>C (p.Cys419Arg) c.795T>C (p.Ala265=) c.1004T>C (p.Leu335Pro) c.856T>C (p.Cys286Arg) | |
8 | g.96144676A>T | CA371749638 | GDF6 | c.1255T>A (p.Cys419Ser) c.795T>A (p.Ala265=) c.1004T>A (p.Leu335Gln) c.856T>A (p.Cys286Ser) | |
8 | g.96144677G>A | CA371749641 | GDF6 | c.1254C>T (p.Ser418=) c.794C>T (p.Ala265Val) c.1003C>T (p.Leu335=) c.855C>T (p.Ser285=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144677G>C | CA371749640 | GDF6 | c.1254C>G (p.Ser418Arg) c.794C>G (p.Ala265Gly) c.1003C>G (p.Leu335Val) c.855C>G (p.Ser285Arg) | |
8 | g.96144677G= | CA1804260714 | GDF6 | c.1254C= (p.Ser418=) c.794C= (p.Ala265=) c.1003C= (p.Leu335=) c.855C= (p.Ser285=) | |
8 | g.96144677G>T | CA371749639 | GDF6 | c.1254C>A (p.Ser418Arg) c.794C>A (p.Ala265Asp) c.1003C>A (p.Leu335Met) c.855C>A (p.Ser285Arg) | COSMIC |
8 | g.96144678C>A | CA371749642 | GDF6 | c.1253G>T (p.Ser418Ile) c.794-1G>T (n.794-1G>T) c.1002G>T (p.Gln334His) c.854G>T (p.Ser285Ile) | |
8 | g.96144678C= | CA1804260718 | GDF6 | c.1253G= (p.Ser418=) c.794-1G= (n.794-1G=) c.1002G= (p.Gln334=) c.854G= (p.Ser285=) | |
8 | g.96144678C>G | CA371749643 | GDF6 | c.1253G>C (p.Ser418Thr) c.794-1G>C (n.794-1G>C) c.1002G>C (p.Gln334His) c.854G>C (p.Ser285Thr) | |
8 | g.96144678C>T | CA371749644 | GDF6 | c.1253G>A (p.Ser418Asn) c.794-1G>A (n.794-1G>A) c.1002G>A (p.Gln334=) c.854G>A (p.Ser285Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.96144679T>A | CA371749645 | GDF6 | c.1252A>T (p.Ser418Cys) c.794-2A>T (n.794-2A>T) c.1001A>T (p.Gln334Leu) c.853A>T (p.Ser285Cys) | |
8 | g.96144679T>C | CA371749646 | GDF6 | c.1252A>G (p.Ser418Gly) c.794-2A>G (n.794-2A>G) c.1001A>G (p.Gln334Arg) c.853A>G (p.Ser285Gly) | dbSNP |
8 | g.96144679T>G | CA371749648 | GDF6 | c.1252A>C (p.Ser418Arg) c.794-2A>C (n.794-2A>C) c.1001A>C (p.Gln334Pro) c.853A>C (p.Ser285Arg) | |
8 | g.96144679T= | CA1804260722 | GDF6 | c.1252A= (p.Ser418=) c.794-2A= (n.794-2A=) c.1001A= (p.Gln334=) c.853A= (p.Ser285=) | |
8 | g.96144680G>A | CA4815349 | GDF6 | c.1251C>T (p.Pro417=) c.794-3C>T (n.794-3C>T) c.1000C>T (p.Gln334Ter) c.852C>T (p.Pro284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144680G>C | CA371749651 | GDF6 | c.1251C>G (p.Pro417=) c.794-3C>G (n.794-3C>G) c.1000C>G (p.Gln334Glu) c.852C>G (p.Pro284=) | |
8 | g.96144680G= | CA1804260727 | GDF6 | c.1251C= (p.Pro417=) c.794-3C= (n.794-3C=) c.1000C= (p.Gln334=) c.852C= (p.Pro284=) | |
8 | g.96144680G>T | CA371749652 | GDF6 | c.1251C>A (p.Pro417=) c.794-3C>A (n.794-3C>A) c.1000C>A (p.Gln334Lys) c.852C>A (p.Pro284=) | |
8 | g.96144681G>A | CA371749656 | GDF6 | c.1250C>T (p.Pro417Leu) c.794-4C>T (n.794-4C>T) c.999C>T (p.Ala333=) c.851C>T (p.Pro284Leu) | |
8 | g.96144681G>C | CA371749657 | GDF6 | c.1250C>G (p.Pro417Arg) c.794-4C>G (n.794-4C>G) c.999C>G (p.Ala333=) c.851C>G (p.Pro284Arg) | |
8 | g.96144681G>T | CA371749659 | GDF6 | c.1250C>A (p.Pro417His) c.794-4C>A (n.794-4C>A) c.999C>A (p.Ala333=) c.851C>A (p.Pro284His) | |
8 | g.96144682G>A | CA371749668 | GDF6 | c.1249C>T (p.Pro417Ser) c.794-5C>T (n.794-5C>T) c.998C>T (p.Ala333Val) c.850C>T (p.Pro284Ser) | gnomAD v4 |
8 | g.96144682G>C | CA371749664 | GDF6 | c.1249C>G (p.Pro417Ala) c.794-5C>G (n.794-5C>G) c.998C>G (p.Ala333Gly) c.850C>G (p.Pro284Ala) | |
8 | g.96144682G>T | CA371749666 | GDF6 | c.1249C>A (p.Pro417Thr) c.794-5C>A (n.794-5C>A) c.998C>A (p.Ala333Asp) c.850C>A (p.Pro284Thr) | |
8 | g.96144683C>A | CA371749671 | GDF6 | c.1248G>T (p.Pro416=) c.794-6G>T (n.794-6G>T) c.997G>T (p.Ala333Ser) c.849G>T (p.Pro283=) | ClinVar gnomAD v4 |
8 | g.96144683C= | CA1804260740 | GDF6 | c.1248G= (p.Pro416=) c.794-6G= (n.794-6G=) c.997G= (p.Ala333=) c.849G= (p.Pro283=) | |
8 | g.96144683C>G | CA371749673 | GDF6 | c.1248G>C (p.Pro416=) c.794-6G>C (n.794-6G>C) c.997G>C (p.Ala333Pro) c.849G>C (p.Pro283=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96144683C>T | CA371749674 | GDF6 | c.1248G>A (p.Pro416=) c.794-6G>A (n.794-6G>A) c.997G>A (p.Ala333Thr) c.849G>A (p.Pro283=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96144684G>A | CA4815350 | GDF6 | c.1247C>T (p.Pro416Leu) c.794-7C>T (n.794-7C>T) c.996C>T (p.Pro332=) c.848C>T (p.Pro283Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96144684G>C | CA371749678 | GDF6 | c.1247C>G (p.Pro416Arg) c.794-7C>G (n.794-7C>G) c.996C>G (p.Pro332=) c.848C>G (p.Pro283Arg) | |
8 | g.96144684G= | CA1804260747 | GDF6 | c.1247C= (p.Pro416=) c.794-7C= (n.794-7C=) c.996C= (p.Pro332=) c.848C= (p.Pro283=) | |
8 | g.96144684G>T | CA371749681 | GDF6 | c.1247C>A (p.Pro416Gln) c.794-7C>A (n.794-7C>A) c.996C>A (p.Pro332=) c.848C>A (p.Pro283Gln) | |
8 | g.96144685G>A | CA371749687 | GDF6 | c.1246C>T (p.Pro416Ser) c.794-8C>T (n.794-8C>T) c.995C>T (p.Pro332Leu) c.847C>T (p.Pro283Ser) | |
8 | g.96144685G>C | CA371749685 | GDF6 | c.1246C>G (p.Pro416Ala) c.794-8C>G (n.794-8C>G) c.995C>G (p.Pro332Arg) c.847C>G (p.Pro283Ala) | |
8 | g.96144685G>T | CA371749683 | GDF6 | c.1246C>A (p.Pro416Thr) c.794-8C>A (n.794-8C>A) c.995C>A (p.Pro332His) c.847C>A (p.Pro283Thr) | |
8 | g.96144686G>A | CA371749690 | GDF6 | c.1245C>T (p.Thr415=) c.794-9C>T (n.794-9C>T) c.994C>T (p.Pro332Ser) c.846C>T (p.Thr282=) | |
8 | g.96144686G>C | CA371749692 | GDF6 | c.1245C>G (p.Thr415=) c.794-9C>G (n.794-9C>G) c.994C>G (p.Pro332Ala) c.846C>G (p.Thr282=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144686G= | CA1804260755 | GDF6 | c.1245C= (p.Thr415=) c.794-9C= (n.794-9C=) c.994C= (p.Pro332=) c.846C= (p.Thr282=) | |
8 | g.96144686G>T | CA371749694 | GDF6 | c.1245C>A (p.Thr415=) c.794-9C>A (n.794-9C>A) c.994C>A (p.Pro332Thr) c.846C>A (p.Thr282=) | |
8 | g.96144687G>A | CA371749697 | GDF6 | c.1244C>T (p.Thr415Ile) c.794-10C>T (n.794-10C>T) c.993C>T (p.His331=) c.845C>T (p.Thr282Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144687G>C | CA371749698 | GDF6 | c.1244C>G (p.Thr415Ser) c.794-10C>G (n.794-10C>G) c.993C>G (p.His331Gln) c.845C>G (p.Thr282Ser) | |
8 | g.96144687G= | CA1804260760 | GDF6 | c.1244C= (p.Thr415=) c.794-10C= (n.794-10C=) c.993C= (p.His331=) c.845C= (p.Thr282=) | |
8 | g.96144687G>T | CA371749700 | GDF6 | c.1244C>A (p.Thr415Asn) c.794-10C>A (n.794-10C>A) c.993C>A (p.His331Gln) c.845C>A (p.Thr282Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96144688T>A | CA371749703 | GDF6 | c.1243A>T (p.Thr415Ser) c.794-11A>T (n.794-11A>T) c.992A>T (p.His331Leu) c.844A>T (p.Thr282Ser) | |
8 | g.96144688T>C | CA181485019 | GDF6 | c.1243A>G (p.Thr415Ala) c.794-11A>G (n.794-11A>G) c.992A>G (p.His331Arg) c.844A>G (p.Thr282Ala) | dbSNP gnomAD v2 |
8 | g.96144688T>G | CA371749705 | GDF6 | c.1243A>C (p.Thr415Pro) c.794-11A>C (n.794-11A>C) c.992A>C (p.His331Pro) c.844A>C (p.Thr282Pro) | dbSNP |
8 | g.96144688T= | CA1804260765 | GDF6 | c.1243A= (p.Thr415=) c.794-11A= (n.794-11A=) c.992A= (p.His331=) c.844A= (p.Thr282=) | |
8 | g.96144689G>A | CA371749707 | GDF6 | c.1242C>T (p.Ser414=) c.794-12C>T (n.794-12C>T) c.991C>T (p.His331Tyr) c.843C>T (p.Ser281=) | ClinVar dbSNP |
8 | g.96144689G>C | CA371749709 | GDF6 | c.1242C>G (p.Ser414=) c.794-12C>G (n.794-12C>G) c.991C>G (p.His331Asp) c.843C>G (p.Ser281=) | |
8 | g.96144689G= | CA1804260769 | GDF6 | c.1242C= (p.Ser414=) c.794-12C= (n.794-12C=) c.991C= (p.His331=) c.843C= (p.Ser281=) | |
8 | g.96144689G>T | CA371749710 | GDF6 | c.1242C>A (p.Ser414=) c.794-12C>A (n.794-12C>A) c.991C>A (p.His331Asn) c.843C>A (p.Ser281=) | |
8 | g.96144690G>A | CA371749713 | GDF6 | c.1241C>T (p.Ser414Phe) c.794-13C>T (n.794-13C>T) c.990C>T (p.Leu330=) c.842C>T (p.Ser281Phe) | |
8 | g.96144690G>C | CA371749714 | GDF6 | c.1241C>G (p.Ser414Cys) c.794-13C>G (n.794-13C>G) c.990C>G (p.Leu330=) c.842C>G (p.Ser281Cys) | |
8 | g.96144690G>T | CA371749717 | GDF6 | c.1241C>A (p.Ser414Tyr) c.794-13C>A (n.794-13C>A) c.990C>A (p.Leu330=) c.842C>A (p.Ser281Tyr) | |
8 | g.96144691A>C | CA371749719 | GDF6 | c.1240T>G (p.Ser414Ala) c.794-14T>G (n.794-14T>G) c.989T>G (p.Leu330Arg) c.841T>G (p.Ser281Ala) | |
8 | g.96144691A>G | CA371749720 | GDF6 | c.1240T>C (p.Ser414Pro) c.794-14T>C (n.794-14T>C) c.989T>C (p.Leu330Pro) c.841T>C (p.Ser281Pro) | |
8 | g.96144691A>T | CA371749721 | GDF6 | c.1240T>A (p.Ser414Thr) c.794-14T>A (n.794-14T>A) c.989T>A (p.Leu330His) c.841T>A (p.Ser281Thr) | |
8 | g.96144692G>A | CA371749723 | GDF6 | c.1239C>T (p.Gly413=) c.794-15C>T (n.794-15C>T) c.988C>T (p.Leu330Phe) c.840C>T (p.Gly280=) | |
8 | g.96144692G>C | CA371749724 | GDF6 | c.1239C>G (p.Gly413=) c.794-15C>G (n.794-15C>G) c.988C>G (p.Leu330Val) c.840C>G (p.Gly280=) | |
8 | g.96144692G>T | CA371749726 | GDF6 | c.1239C>A (p.Gly413=) c.794-15C>A (n.794-15C>A) c.988C>A (p.Leu330Ile) c.840C>A (p.Gly280=) | |
8 | g.96144693C>A | CA371749731 | GDF6 | c.1238G>T (p.Gly413Val) c.794-16G>T (n.794-16G>T) c.987G>T (p.Arg329=) c.839G>T (p.Gly280Val) | |
8 | g.96144693C>G | CA371749728 | GDF6 | c.1238G>C (p.Gly413Ala) c.794-16G>C (n.794-16G>C) c.987G>C (p.Arg329=) c.839G>C (p.Gly280Ala) | |
8 | g.96144693C>T | CA371749729 | GDF6 | c.1238G>A (p.Gly413Asp) c.794-16G>A (n.794-16G>A) c.987G>A (p.Arg329=) c.839G>A (p.Gly280Asp) | gnomAD v4 |
8 | g.96144694C>A | CA371749732 | GDF6 | c.1237G>T (p.Gly413Cys) c.794-17G>T (n.794-17G>T) c.986G>T (p.Arg329Leu) c.838G>T (p.Gly280Cys) | |
8 | g.96144694C= | CA1804260774 | GDF6 | c.1237G= (p.Gly413=) c.794-17G= (n.794-17G=) c.986G= (p.Arg329=) c.838G= (p.Gly280=) | |
8 | g.96144694C>G | CA371749734 | GDF6 | c.1237G>C (p.Gly413Arg) c.794-17G>C (n.794-17G>C) c.986G>C (p.Arg329Pro) c.838G>C (p.Gly280Arg) | |
8 | g.96144694C>T | CA181485020 | GDF6 | c.1237G>A (p.Gly413Ser) c.794-17G>A (n.794-17G>A) c.986G>A (p.Arg329Gln) c.838G>A (p.Gly280Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.96144695G>A | CA371749736 | GDF6 | c.1236C>T (p.Pro412=) c.794-18C>T (n.794-18C>T) c.985C>T (p.Arg329Trp) c.837C>T (p.Pro279=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.96144695G>C | CA371749738 | GDF6 | c.1236C>G (p.Pro412=) c.794-18C>G (n.794-18C>G) c.985C>G (p.Arg329Gly) c.837C>G (p.Pro279=) | |
8 | g.96144695G= | CA1804260781 | GDF6 | c.1236C= (p.Pro412=) c.794-18C= (n.794-18C=) c.985C= (p.Arg329=) c.837C= (p.Pro279=) | |
8 | g.96144695G>T | CA462455048 | GDF6 | c.1236C>A (p.Pro412=) c.794-18C>A (n.794-18C>A) c.985C>A (p.Arg329=) c.837C>A (p.Pro279=) | dbSNP gnomAD v2 |
8 | g.96144696G>A | CA371749743 | GDF6 | c.1235C>T (p.Pro412Leu) c.794-19C>T (n.794-19C>T) c.984C>T (p.Pro328=) c.836C>T (p.Pro279Leu) | |
8 | g.96144696G>C | CA371749742 | GDF6 | c.1235C>G (p.Pro412Arg) c.794-19C>G (n.794-19C>G) c.984C>G (p.Pro328=) c.836C>G (p.Pro279Arg) | |
8 | g.96144696G>T | CA371749740 | GDF6 | c.1235C>A (p.Pro412His) c.794-19C>A (n.794-19C>A) c.984C>A (p.Pro328=) c.836C>A (p.Pro279His) | |
8 | g.96144697G>A | CA371749745 | GDF6 | c.1234C>T (p.Pro412Ser) c.794-20C>T (n.794-20C>T) c.983C>T (p.Pro328Leu) c.835C>T (p.Pro279Ser) | COSMIC |
8 | g.96144697G>C | CA371749747 | GDF6 | c.1234C>G (p.Pro412Ala) c.794-20C>G (n.794-20C>G) c.983C>G (p.Pro328Arg) c.835C>G (p.Pro279Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144697G= | CA1804260788 | GDF6 | c.1234C= (p.Pro412=) c.794-20C= (n.794-20C=) c.983C= (p.Pro328=) c.835C= (p.Pro279=) | |
8 | g.96144697G>T | CA371749749 | GDF6 | c.1234C>A (p.Pro412Thr) c.794-20C>A (n.794-20C>A) c.983C>A (p.Pro328His) c.835C>A (p.Pro279Thr) | |
8 | g.96144698G>A | CA4815351 | GDF6 | c.1233C>T (p.Asp411=) c.794-21C>T (n.794-21C>T) c.982C>T (p.Pro328Ser) c.834C>T (p.Asp278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144698G>C | CA371749751 | GDF6 | c.1233C>G (p.Asp411Glu) c.794-21C>G (n.794-21C>G) c.982C>G (p.Pro328Ala) c.834C>G (p.Asp278Glu) | |
8 | g.96144698G= | CA1804260795 | GDF6 | c.1233C= (p.Asp411=) c.794-21C= (n.794-21C=) c.982C= (p.Pro328=) c.834C= (p.Asp278=) | |
8 | g.96144698G>T | CA371749753 | GDF6 | c.1233C>A (p.Asp411Glu) c.794-21C>A (n.794-21C>A) c.982C>A (p.Pro328Thr) c.834C>A (p.Asp278Glu) | dbSNP |
8 | g.96144699T>A | CA371749759 | GDF6 | c.1232A>T (p.Asp411Val) c.794-22A>T (n.794-22A>T) c.981A>T (p.Gly327=) c.833A>T (p.Asp278Val) | |
8 | g.96144699T>C | CA371749755 | GDF6 | c.1232A>G (p.Asp411Gly) c.794-22A>G (n.794-22A>G) c.981A>G (p.Gly327=) c.833A>G (p.Asp278Gly) | gnomAD v4 |
8 | g.96144699T>G | CA371749757 | GDF6 | c.1232A>C (p.Asp411Ala) c.794-22A>C (n.794-22A>C) c.981A>C (p.Gly327=) c.833A>C (p.Asp278Ala) | |
8 | g.96144700C>A | CA371749762 | GDF6 | c.1231G>T (p.Asp411Tyr) c.794-23G>T (n.794-23G>T) c.980G>T (p.Gly327Val) c.832G>T (p.Asp278Tyr) | |
8 | g.96144700C= | CA1804260799 | GDF6 | c.1231G= (p.Asp411=) c.794-23G= (n.794-23G=) c.980G= (p.Gly327=) c.832G= (p.Asp278=) | |
8 | g.96144700C>G | CA371749764 | GDF6 | c.1231G>C (p.Asp411His) c.794-23G>C (n.794-23G>C) c.980G>C (p.Gly327Ala) c.832G>C (p.Asp278His) | |
8 | g.96144700C>T | CA371749766 | GDF6 | c.1231G>A (p.Asp411Asn) c.794-23G>A (n.794-23G>A) c.980G>A (p.Gly327Glu) c.832G>A (p.Asp278Asn) | dbSNP |
8 | g.96144701C>A | CA371749768 | GDF6 | c.1230G>T (p.Met410Ile) c.794-24G>T (n.794-24G>T) c.979G>T (p.Gly327Ter) c.831G>T (p.Met277Ile) | |
8 | g.96144701C= | CA1804260804 | GDF6 | c.1230G= (p.Met410=) c.794-24G= (n.794-24G=) c.979G= (p.Gly327=) c.831G= (p.Met277=) | |
8 | g.96144701C>G | CA4815352 | GDF6 | c.1230G>C (p.Met410Ile) c.794-24G>C (n.794-24G>C) c.979G>C (p.Gly327Arg) c.831G>C (p.Met277Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96144701C>T | CA371749771 | GDF6 | c.1230G>A (p.Met410Ile) c.794-24G>A (n.794-24G>A) c.979G>A (p.Gly327Arg) c.831G>A (p.Met277Ile) | gnomAD v4 |
8 | g.96144702A= | CA1804260812 | GDF6 | c.1229T= (p.Met410=) c.794-25T= (n.794-25T=) c.978T= (p.His326=) c.830T= (p.Met277=) | |
8 | g.96144702A>C | CA371749773 | GDF6 | c.1229T>G (p.Met410Arg) c.794-25T>G (n.794-25T>G) c.978T>G (p.His326Gln) c.830T>G (p.Met277Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.96144702A>G | CA371749775 | GDF6 | c.1229T>C (p.Met410Thr) c.794-25T>C (n.794-25T>C) c.978T>C (p.His326=) c.830T>C (p.Met277Thr) | |
8 | g.96144702A>T | CA371749777 | GDF6 | c.1229T>A (p.Met410Lys) c.794-25T>A (n.794-25T>A) c.978T>A (p.His326Gln) c.830T>A (p.Met277Lys) | dbSNP |
8 | g.96144703T>A | CA371749779 | GDF6 | c.1228A>T (p.Met410Leu) c.794-26A>T (n.794-26A>T) c.977A>T (p.His326Leu) c.829A>T (p.Met277Leu) | |
8 | g.96144703T>C | CA371749781 | GDF6 | c.1228A>G (p.Met410Val) c.794-26A>G (n.794-26A>G) c.977A>G (p.His326Arg) c.829A>G (p.Met277Val) | gnomAD v4 |
8 | g.96144703T>G | CA371749783 | GDF6 | c.1228A>C (p.Met410Leu) c.794-26A>C (n.794-26A>C) c.977A>C (p.His326Pro) c.829A>C (p.Met277Leu) | |
8 | g.96144704G>A | CA371749790 | GDF6 | c.1227C>T (p.Ser409=) c.794-27C>T (n.794-27C>T) c.976C>T (p.His326Tyr) c.828C>T (p.Ser276=) | COSMIC |
8 | g.96144704G>C | CA371749786 | GDF6 | c.1227C>G (p.Ser409=) c.794-27C>G (n.794-27C>G) c.976C>G (p.His326Asp) c.828C>G (p.Ser276=) | |
8 | g.96144704G>T | CA371749788 | GDF6 | c.1227C>A (p.Ser409=) c.794-27C>A (n.794-27C>A) c.976C>A (p.His326Asn) c.828C>A (p.Ser276=) | |
8 | g.96144705G>A | CA371749792 | GDF6 | c.1226C>T (p.Ser409Phe) c.794-28C>T (n.794-28C>T) c.975C>T (p.Leu325=) c.827C>T (p.Ser276Phe) | |
8 | g.96144705G>C | CA371749795 | GDF6 | c.1226C>G (p.Ser409Cys) c.794-28C>G (n.794-28C>G) c.975C>G (p.Leu325=) c.827C>G (p.Ser276Cys) | |
8 | g.96144705G>T | CA371749797 | GDF6 | c.1226C>A (p.Ser409Tyr) c.794-28C>A (n.794-28C>A) c.975C>A (p.Leu325=) c.827C>A (p.Ser276Tyr) | |
8 | g.96144706A>C | CA371749799 | GDF6 | c.1225T>G (p.Ser409Ala) c.794-29T>G (n.794-29T>G) c.974T>G (p.Leu325Arg) c.826T>G (p.Ser276Ala) | |
8 | g.96144706A>G | CA371749801 | GDF6 | c.1225T>C (p.Ser409Pro) c.794-29T>C (n.794-29T>C) c.974T>C (p.Leu325Pro) c.826T>C (p.Ser276Pro) | |
8 | g.96144706A>T | CA371749803 | GDF6 | c.1225T>A (p.Ser409Thr) c.794-29T>A (n.794-29T>A) c.974T>A (p.Leu325His) c.826T>A (p.Ser276Thr) | |
8 | g.96144707G>A | CA371749808 | GDF6 | c.1224C>T (p.Asn408=) c.794-30C>T (n.794-30C>T) c.973C>T (p.Leu325Phe) c.825C>T (p.Asn275=) | |
8 | g.96144707G>C | CA371749807 | GDF6 | c.1224C>G (p.Asn408Lys) c.794-30C>G (n.794-30C>G) c.973C>G (p.Leu325Val) c.825C>G (p.Asn275Lys) | |
8 | g.96144707G>T | CA371749805 | GDF6 | c.1224C>A (p.Asn408Lys) c.794-30C>A (n.794-30C>A) c.973C>A (p.Leu325Ile) c.825C>A (p.Asn275Lys) | |
8 | g.96144708T>A | CA371749811 | GDF6 | c.1223A>T (p.Asn408Ile) c.794-31A>T (n.794-31A>T) c.972A>T (p.Glu324Asp) c.824A>T (p.Asn275Ile) | |
8 | g.96144708T>C | CA371749812 | GDF6 | c.1223A>G (p.Asn408Ser) c.794-31A>G (n.794-31A>G) c.972A>G (p.Glu324=) c.824A>G (p.Asn275Ser) | |
8 | g.96144708T>G | CA371749813 | GDF6 | c.1223A>C (p.Asn408Thr) c.794-31A>C (n.794-31A>C) c.972A>C (p.Glu324Asp) c.824A>C (p.Asn275Thr) | |
8 | g.96144709T>A | CA371749815 | GDF6 | c.1222A>T (p.Asn408Tyr) c.794-32A>T (n.794-32A>T) c.971A>T (p.Glu324Val) c.823A>T (p.Asn275Tyr) | gnomAD v4 |
8 | g.96144709T>C | CA371749817 | GDF6 | c.1222A>G (p.Asn408Asp) c.794-32A>G (n.794-32A>G) c.971A>G (p.Glu324Gly) c.823A>G (p.Asn275Asp) | |
8 | g.96144709T>G | CA371749819 | GDF6 | c.1222A>C (p.Asn408His) c.794-32A>C (n.794-32A>C) c.971A>C (p.Glu324Ala) c.823A>C (p.Asn275His) | |
8 | g.96144710C>A | CA371749821 | GDF6 | c.1221G>T (p.Met407Ile) c.794-33G>T (n.794-33G>T) c.970G>T (p.Glu324Ter) c.822G>T (p.Met274Ile) | gnomAD v4 COSMIC |
8 | g.96144710C>G | CA371749824 | GDF6 | c.1221G>C (p.Met407Ile) c.794-33G>C (n.794-33G>C) c.970G>C (p.Glu324Gln) c.822G>C (p.Met274Ile) | |
8 | g.96144710C>T | CA371749823 | GDF6 | c.1221G>A (p.Met407Ile) c.794-33G>A (n.794-33G>A) c.970G>A (p.Glu324Lys) c.822G>A (p.Met274Ile) | COSMIC |
8 | g.96144711A>C | CA371749826 | GDF6 | c.1220T>G (p.Met407Arg) c.794-34T>G (n.794-34T>G) c.969T>G (p.Asp323Glu) c.821T>G (p.Met274Arg) | |
8 | g.96144711A>G | CA371749828 | GDF6 | c.1220T>C (p.Met407Thr) c.794-34T>C (n.794-34T>C) c.969T>C (p.Asp323=) c.821T>C (p.Met274Thr) | |
8 | g.96144711A>T | CA371749830 | GDF6 | c.1220T>A (p.Met407Lys) c.794-34T>A (n.794-34T>A) c.969T>A (p.Asp323Glu) c.821T>A (p.Met274Lys) | |
8 | g.96144712T>A | CA371749833 | GDF6 | c.1219A>T (p.Met407Leu) c.794-35A>T (n.794-35A>T) c.968A>T (p.Asp323Val) c.820A>T (p.Met274Leu) | |
8 | g.96144712T>C | CA371749834 | GDF6 | c.1219A>G (p.Met407Val) c.794-35A>G (n.794-35A>G) c.968A>G (p.Asp323Gly) c.820A>G (p.Met274Val) | |
8 | g.96144712T>G | CA371749836 | GDF6 | c.1219A>C (p.Met407Leu) c.794-35A>C (n.794-35A>C) c.968A>C (p.Asp323Ala) c.820A>C (p.Met274Leu) | |
8 | g.96144713C>A | CA371749837 | GDF6 | c.1218G>T (p.Leu406=) c.794-36G>T (n.794-36G>T) c.967G>T (p.Asp323Tyr) c.819G>T (p.Leu273=) | |
8 | g.96144713C>G | CA371749838 | GDF6 | c.1218G>C (p.Leu406=) c.794-36G>C (n.794-36G>C) c.967G>C (p.Asp323His) c.819G>C (p.Leu273=) | gnomAD v4 |
8 | g.96144713C>T | CA371749839 | GDF6 | c.1218G>A (p.Leu406=) c.794-36G>A (n.794-36G>A) c.967G>A (p.Asp323Asn) c.819G>A (p.Leu273=) | COSMIC |
8 | g.96144714A>C | CA371749840 | GDF6 | c.1217T>G (p.Leu406Arg) c.794-37T>G (n.794-37T>G) c.966T>G (p.Ala322=) c.818T>G (p.Leu273Arg) | |
8 | g.96144714A>G | CA371749841 | GDF6 | c.1217T>C (p.Leu406Pro) c.794-37T>C (n.794-37T>C) c.966T>C (p.Ala322=) c.818T>C (p.Leu273Pro) | |
8 | g.96144714A>T | CA371749842 | GDF6 | c.1217T>A (p.Leu406Gln) c.794-37T>A (n.794-37T>A) c.966T>A (p.Ala322=) c.818T>A (p.Leu273Gln) | |
8 | g.96144715G>A | CA371749845 | GDF6 | c.1216C>T (p.Leu406=) c.794-38C>T (n.794-38C>T) c.965C>T (p.Ala322Val) c.817C>T (p.Leu273=) | |
8 | g.96144715G>C | CA371749848 | GDF6 | c.1216C>G (p.Leu406Val) c.794-38C>G (n.794-38C>G) c.965C>G (p.Ala322Gly) c.817C>G (p.Leu273Val) | dbSNP |
8 | g.96144715G>T | CA371749846 | GDF6 | c.1216C>A (p.Leu406Met) c.794-38C>A (n.794-38C>A) c.965C>A (p.Ala322Asp) c.817C>A (p.Leu273Met) | |
8 | g.96144716C>A | CA371749851 | GDF6 | c.1215G>T (p.Thr405=) c.794-39G>T (n.794-39G>T) c.964G>T (p.Ala322Ser) c.816G>T (p.Thr272=) | |
8 | g.96144716C>G | CA371749853 | GDF6 | c.1215G>C (p.Thr405=) c.794-39G>C (n.794-39G>C) c.964G>C (p.Ala322Pro) c.816G>C (p.Thr272=) | gnomAD v4 |
8 | g.96144716C>T | CA371749855 | GDF6 | c.1215G>A (p.Thr405=) c.794-39G>A (n.794-39G>A) c.964G>A (p.Ala322Thr) c.816G>A (p.Thr272=) | COSMIC |
8 | g.96144717G>A | CA371749856 | GDF6 | c.1214C>T (p.Thr405Met) c.794-40C>T (n.794-40C>T) c.963C>T (p.Asp321=) c.815C>T (p.Thr272Met) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.96144717G>C | CA371749857 | GDF6 | c.1214C>G (p.Thr405Arg) c.794-40C>G (n.794-40C>G) c.963C>G (p.Asp321Glu) c.815C>G (p.Thr272Arg) | |
8 | g.96144717G= | CA1804260817 | GDF6 | c.1214C= (p.Thr405=) c.794-40C= (n.794-40C=) c.963C= (p.Asp321=) c.815C= (p.Thr272=) | |
8 | g.96144717G>T | CA371749858 | GDF6 | c.1214C>A (p.Thr405Lys) c.794-40C>A (n.794-40C>A) c.963C>A (p.Asp321Glu) c.815C>A (p.Thr272Lys) | |
8 | g.96144718T>A | CA371749859 | GDF6 | c.1213A>T (p.Thr405Ser) c.794-41A>T (n.794-41A>T) c.962A>T (p.Asp321Val) c.814A>T (p.Thr272Ser) | |
8 | g.96144718T>C | CA371749860 | GDF6 | c.1213A>G (p.Thr405Ala) c.794-41A>G (n.794-41A>G) c.962A>G (p.Asp321Gly) c.814A>G (p.Thr272Ala) | |
8 | g.96144718T>G | CA371749862 | GDF6 | c.1213A>C (p.Thr405Pro) c.794-41A>C (n.794-41A>C) c.962A>C (p.Asp321Ala) c.814A>C (p.Thr272Pro) | |
8 | g.96144719C>A | CA371749864 | GDF6 | c.1212G>T (p.Gln404His) c.794-42G>T (n.794-42G>T) c.961G>T (p.Asp321Tyr) c.813G>T (p.Gln271His) | |
8 | g.96144719C= | CA1804260828 | GDF6 | c.1212G= (p.Gln404=) c.794-42G= (n.794-42G=) c.961G= (p.Asp321=) c.813G= (p.Gln271=) | |
8 | g.96144719C>G | CA371749866 | GDF6 | c.1212G>C (p.Gln404His) c.794-42G>C (n.794-42G>C) c.961G>C (p.Asp321His) c.813G>C (p.Gln271His) | |
8 | g.96144719C>T | CA371749867 | GDF6 | c.1212G>A (p.Gln404=) c.794-42G>A (n.794-42G>A) c.961G>A (p.Asp321Asn) c.813G>A (p.Gln271=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144720T>A | CA371749873 | GDF6 | c.1211A>T (p.Gln404Leu) c.794-43A>T (n.794-43A>T) c.960A>T (p.Pro320=) c.812A>T (p.Gln271Leu) | |
8 | g.96144720T>C | CA371749871 | GDF6 | c.1211A>G (p.Gln404Arg) c.794-43A>G (n.794-43A>G) c.960A>G (p.Pro320=) c.812A>G (p.Gln271Arg) | |
8 | g.96144720T>G | CA371749869 | GDF6 | c.1211A>C (p.Gln404Pro) c.794-43A>C (n.794-43A>C) c.960A>C (p.Pro320=) c.812A>C (p.Gln271Pro) | |
8 | g.96144721G>A | CA371749876 | GDF6 | c.1210C>T (p.Gln404Ter) c.794-44C>T (n.794-44C>T) c.959C>T (p.Pro320Leu) c.811C>T (p.Gln271Ter) | |
8 | g.96144721G>C | CA371749877 | GDF6 | c.1210C>G (p.Gln404Glu) c.794-44C>G (n.794-44C>G) c.959C>G (p.Pro320Arg) c.811C>G (p.Gln271Glu) | |
8 | g.96144721G>T | CA371749880 | GDF6 | c.1210C>A (p.Gln404Lys) c.794-44C>A (n.794-44C>A) c.959C>A (p.Pro320Gln) c.811C>A (p.Gln271Lys) | |
8 | g.96144722G>A | CA371749882 | GDF6 | c.1209C>T (p.Ile403=) c.794-45C>T (n.794-45C>T) c.958C>T (p.Pro320Ser) c.810C>T (p.Ile270=) | |
8 | g.96144722G>C | CA371749884 | GDF6 | c.1209C>G (p.Ile403Met) c.794-45C>G (n.794-45C>G) c.958C>G (p.Pro320Ala) c.810C>G (p.Ile270Met) | gnomAD v4 |
8 | g.96144722G>T | CA371749886 | GDF6 | c.1209C>A (p.Ile403=) c.794-45C>A (n.794-45C>A) c.958C>A (p.Pro320Thr) c.810C>A (p.Ile270=) | |
8 | g.96144723A>C | CA371749888 | GDF6 | c.1208T>G (p.Ile403Ser) c.794-46T>G (n.794-46T>G) c.957T>G (p.His319Gln) c.809T>G (p.Ile270Ser) | |
8 | g.96144723A>G | CA371749890 | GDF6 | c.1208T>C (p.Ile403Thr) c.794-46T>C (n.794-46T>C) c.957T>C (p.His319=) c.809T>C (p.Ile270Thr) | gnomAD v4 |
8 | g.96144723A>T | CA371749892 | GDF6 | c.1208T>A (p.Ile403Asn) c.794-46T>A (n.794-46T>A) c.957T>A (p.His319Gln) c.809T>A (p.Ile270Asn) | |
8 | g.96144724T>A | CA371749893 | GDF6 | c.1207A>T (p.Ile403Phe) c.794-47A>T (n.794-47A>T) c.956A>T (p.His319Leu) c.808A>T (p.Ile270Phe) | |
8 | g.96144724T>C | CA371749895 | GDF6 | c.1207A>G (p.Ile403Val) c.794-47A>G (n.794-47A>G) c.956A>G (p.His319Arg) c.808A>G (p.Ile270Val) | |
8 | g.96144724T>G | CA371749897 | GDF6 | c.1207A>C (p.Ile403Leu) c.794-47A>C (n.794-47A>C) c.956A>C (p.His319Pro) c.808A>C (p.Ile270Leu) | |
8 | g.96144725G>A | CA371749898 | GDF6 | c.1206C>T (p.Ile402=) c.794-48C>T (n.794-48C>T) c.955C>T (p.His319Tyr) c.807C>T (p.Ile269=) | |
8 | g.96144725G>C | CA371749900 | GDF6 | c.1206C>G (p.Ile402Met) c.794-48C>G (n.794-48C>G) c.955C>G (p.His319Asp) c.807C>G (p.Ile269Met) | |
8 | g.96144725G>T | CA371749899 | GDF6 | c.1206C>A (p.Ile402=) c.794-48C>A (n.794-48C>A) c.955C>A (p.His319Asn) c.807C>A (p.Ile269=) | |
8 | g.96144726A>C | CA371749903 | GDF6 | c.1205T>G (p.Ile402Ser) c.794-49T>G (n.794-49T>G) c.954T>G (p.His318Gln) c.806T>G (p.Ile269Ser) | |
8 | g.96144726A>G | CA371749906 | GDF6 | c.1205T>C (p.Ile402Thr) c.794-49T>C (n.794-49T>C) c.954T>C (p.His318=) c.806T>C (p.Ile269Thr) | gnomAD v4 |
8 | g.96144726A>T | CA371749904 | GDF6 | c.1205T>A (p.Ile402Asn) c.794-49T>A (n.794-49T>A) c.954T>A (p.His318Gln) c.806T>A (p.Ile269Asn) | |
8 | g.96144727T>A | CA371749908 | GDF6 | c.1204A>T (p.Ile402Phe) c.794-50A>T (n.794-50A>T) c.953A>T (p.His318Leu) c.805A>T (p.Ile269Phe) | |
8 | g.96144727T>C | CA371749910 | GDF6 | c.1204A>G (p.Ile402Val) c.794-50A>G (n.794-50A>G) c.953A>G (p.His318Arg) c.805A>G (p.Ile269Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144727T>G | CA371749912 | GDF6 | c.1204A>C (p.Ile402Leu) c.794-50A>C (n.794-50A>C) c.953A>C (p.His318Pro) c.805A>C (p.Ile269Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.96144727T= | CA1804260832 | GDF6 | c.1204A= (p.Ile402=) c.794-50A= (n.794-50A=) c.953A= (p.His318=) c.805A= (p.Ile269=) | |
8 | g.96144728G>A | CA371749914 | GDF6 | c.1203C>T (p.Ala401=) c.794-51C>T (n.794-51C>T) c.952C>T (p.His318Tyr) c.804C>T (p.Ala268=) | |
8 | g.96144728G>C | CA371749916 | GDF6 | c.1203C>G (p.Ala401=) c.794-51C>G (n.794-51C>G) c.952C>G (p.His318Asp) c.804C>G (p.Ala268=) | |
8 | g.96144728G>T | CA371749918 | GDF6 | c.1203C>A (p.Ala401=) c.794-51C>A (n.794-51C>A) c.952C>A (p.His318Asn) c.804C>A (p.Ala268=) | |
8 | g.96144729G>A | CA371749920 | GDF6 | c.1202C>T (p.Ala401Val) c.794-52C>T (n.794-52C>T) c.951C>T (p.Arg317=) c.803C>T (p.Ala268Val) | |
8 | g.96144729G>C | CA371749922 | GDF6 | c.1202C>G (p.Ala401Gly) c.794-52C>G (n.794-52C>G) c.951C>G (p.Arg317=) c.803C>G (p.Ala268Gly) | |
8 | g.96144729G>T | CA371749924 | GDF6 | c.1202C>A (p.Ala401Asp) c.794-52C>A (n.794-52C>A) c.951C>A (p.Arg317=) c.803C>A (p.Ala268Asp) | |
8 | g.96144730C>A | CA371749927 | GDF6 | c.1201G>T (p.Ala401Ser) c.794-53G>T (n.794-53G>T) c.950G>T (p.Arg317Leu) c.802G>T (p.Ala268Ser) | |
8 | g.96144730C>G | CA371749929 | GDF6 | c.1201G>C (p.Ala401Pro) c.794-53G>C (n.794-53G>C) c.950G>C (p.Arg317Pro) c.802G>C (p.Ala268Pro) | |
8 | g.96144730C>T | CA371749930 | GDF6 | c.1201G>A (p.Ala401Thr) c.794-53G>A (n.794-53G>A) c.950G>A (p.Arg317His) c.802G>A (p.Ala268Thr) | |
8 | g.96144731G>A | CA371749935 | GDF6 | c.1200C>T (p.His400=) c.794-54C>T (n.794-54C>T) c.949C>T (p.Arg317Cys) c.801C>T (p.His267=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.96144731G>C | CA371749932 | GDF6 | c.1200C>G (p.His400Gln) c.794-54C>G (n.794-54C>G) c.949C>G (p.Arg317Gly) c.801C>G (p.His267Gln) | |
8 | g.96144731G= | CA1804260835 | GDF6 | c.1200C= (p.His400=) c.794-54C= (n.794-54C=) c.949C= (p.Arg317=) c.801C= (p.His267=) | |
8 | g.96144731G>T | CA371749933 | GDF6 | c.1200C>A (p.His400Gln) c.794-54C>A (n.794-54C>A) c.949C>A (p.Arg317Ser) c.801C>A (p.His267Gln) | |
8 | g.96144732T>A | CA371749937 | GDF6 | c.1199A>T (p.His400Leu) c.794-55A>T (n.794-55A>T) c.948A>T (p.Pro316=) c.800A>T (p.His267Leu) | |
8 | g.96144732T>C | CA371749939 | GDF6 | c.1199A>G (p.His400Arg) c.794-55A>G (n.794-55A>G) c.948A>G (p.Pro316=) c.800A>G (p.His267Arg) | |
8 | g.96144732T>G | CA371749941 | GDF6 | c.1199A>C (p.His400Pro) c.794-55A>C (n.794-55A>C) c.948A>C (p.Pro316=) c.800A>C (p.His267Pro) | |
8 | g.96144733G>A | CA371749943 | GDF6 | c.1198C>T (p.His400Tyr) c.794-56C>T (n.794-56C>T) c.947C>T (p.Pro316Leu) c.799C>T (p.His267Tyr) | |
8 | g.96144733G>C | CA371749945 | GDF6 | c.1198C>G (p.His400Asp) c.794-56C>G (n.794-56C>G) c.947C>G (p.Pro316Arg) c.799C>G (p.His267Asp) | |
8 | g.96144733G>T | CA371749947 | GDF6 | c.1198C>A (p.His400Asn) c.794-56C>A (n.794-56C>A) c.947C>A (p.Pro316Gln) c.799C>A (p.His267Asn) | |
8 | g.96144734G>A | CA371749950 | GDF6 | c.1197C>T (p.Asn399=) c.794-57C>T (n.794-57C>T) c.946C>T (p.Pro316Ser) c.798C>T (p.Asn266=) | gnomAD v4 |
8 | g.96144734G>C | CA371749951 | GDF6 | c.1197C>G (p.Asn399Lys) c.794-57C>G (n.794-57C>G) c.946C>G (p.Pro316Ala) c.798C>G (p.Asn266Lys) | |
8 | g.96144734G>T | CA371749953 | GDF6 | c.1197C>A (p.Asn399Lys) c.794-57C>A (n.794-57C>A) c.946C>A (p.Pro316Thr) c.798C>A (p.Asn266Lys) | |
8 | g.96144735T>A | CA371749955 | GDF6 | c.1196A>T (p.Asn399Ile) c.794-58A>T (n.794-58A>T) c.945A>T (p.Gln315His) c.797A>T (p.Asn266Ile) | |
8 | g.96144735T>C | CA371749957 | GDF6 | c.1196A>G (p.Asn399Ser) c.794-58A>G (n.794-58A>G) c.945A>G (p.Gln315=) c.797A>G (p.Asn266Ser) | gnomAD v4 |
8 | g.96144735T>G | CA371749959 | GDF6 | c.1196A>C (p.Asn399Thr) c.794-58A>C (n.794-58A>C) c.945A>C (p.Gln315His) c.797A>C (p.Asn266Thr) | |
8 | g.96144736T>A | CA371749964 | GDF6 | c.1195A>T (p.Asn399Tyr) c.794-59A>T (n.794-59A>T) c.944A>T (p.Gln315Leu) c.796A>T (p.Asn266Tyr) | |
8 | g.96144736T>C | CA371749962 | GDF6 | c.1195A>G (p.Asn399Asp) c.794-59A>G (n.794-59A>G) c.944A>G (p.Gln315Arg) c.796A>G (p.Asn266Asp) | |
8 | g.96144736T>G | CA371749960 | GDF6 | c.1195A>C (p.Asn399His) c.794-59A>C (n.794-59A>C) c.944A>C (p.Gln315Pro) c.796A>C (p.Asn266His) | |
8 | g.96144737G>A | CA371749974 | GDF6 | c.1194C>T (p.Thr398=) c.794-60C>T (n.794-60C>T) c.943C>T (p.Gln315Ter) c.795C>T (p.Thr265=) | |
8 | g.96144737G>C | CA371749966 | GDF6 | c.1194C>G (p.Thr398=) c.794-60C>G (n.794-60C>G) c.943C>G (p.Gln315Glu) c.795C>G (p.Thr265=) | |
8 | g.96144737G= | CA1804260840 | GDF6 | c.1194C= (p.Thr398=) c.794-60C= (n.794-60C=) c.943C= (p.Gln315=) c.795C= (p.Thr265=) | |
8 | g.96144737G>T | CA4815353 | GDF6 | c.1194C>A (p.Thr398=) c.794-60C>A (n.794-60C>A) c.943C>A (p.Gln315Lys) c.795C>A (p.Thr265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96144738G>A | CA371749975 | GDF6 | c.1193C>T (p.Thr398Ile) c.794-61C>T (n.794-61C>T) c.942C>T (p.His314=) c.794C>T (p.Thr265Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96144738G>C | CA371749976 | GDF6 | c.1193C>G (p.Thr398Ser) c.794-61C>G (n.794-61C>G) c.942C>G (p.His314Gln) c.794C>G (p.Thr265Ser) | |
8 | g.96144738G= | CA1804260845 | GDF6 | c.1193C= (p.Thr398=) c.794-61C= (n.794-61C=) c.942C= (p.His314=) c.794C= (p.Thr265=) | |
8 | g.96144738G>T | CA371749978 | GDF6 | c.1193C>A (p.Thr398Asn) c.794-61C>A (n.794-61C>A) c.942C>A (p.His314Gln) c.794C>A (p.Thr265Asn) | |
8 | g.96144739T>A | CA371749983 | GDF6 | c.1192A>T (p.Thr398Ser) c.794-62A>T (n.794-62A>T) c.941A>T (p.His314Leu) c.793A>T (p.Thr265Ser) | |
8 | g.96144739T>C | CA371749982 | GDF6 | c.1192A>G (p.Thr398Ala) c.794-62A>G (n.794-62A>G) c.941A>G (p.His314Arg) c.793A>G (p.Thr265Ala) | |
8 | g.96144739T>G | CA371749981 | GDF6 | c.1192A>C (p.Thr398Pro) c.794-62A>C (n.794-62A>C) c.941A>C (p.His314Pro) c.793A>C (p.Thr265Pro) | |
8 | g.96144740G>A | CA4815354 | GDF6 | c.1191C>T (p.Pro397=) c.794-63C>T (n.794-63C>T) c.940C>T (p.His314Tyr) c.792C>T (p.Pro264=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96144740G>C | CA371749987 | GDF6 | c.1191C>G (p.Pro397=) c.794-63C>G (n.794-63C>G) c.940C>G (p.His314Asp) c.792C>G (p.Pro264=) | |
8 | g.96144740G= | CA1804260852 | GDF6 | c.1191C= (p.Pro397=) c.794-63C= (n.794-63C=) c.940C= (p.His314=) c.792C= (p.Pro264=) | |
8 | g.96144740G>T | CA371749988 | GDF6 | c.1191C>A (p.Pro397=) c.794-63C>A (n.794-63C>A) c.940C>A (p.His314Asn) c.792C>A (p.Pro264=) | |
8 | g.96144741G>A | CA371749991 | GDF6 | c.1190C>T (p.Pro397Leu) c.794-64C>T (n.794-64C>T) c.939C>T (p.Ala313=) c.791C>T (p.Pro264Leu) | |
8 | g.96144741G>C | CA371749993 | GDF6 | c.1190C>G (p.Pro397Arg) c.794-64C>G (n.794-64C>G) c.939C>G (p.Ala313=) c.791C>G (p.Pro264Arg) | gnomAD v4 |
8 | g.96144741G>T | CA371749994 | GDF6 | c.1190C>A (p.Pro397His) c.794-64C>A (n.794-64C>A) c.939C>A (p.Ala313=) c.791C>A (p.Pro264His) | |
8 | g.96144742G>A | CA371749996 | GDF6 | c.1189C>T (p.Pro397Ser) c.794-65C>T (n.794-65C>T) c.938C>T (p.Ala313Val) c.790C>T (p.Pro264Ser) | |
8 | g.96144742G>C | CA371749998 | GDF6 | c.1189C>G (p.Pro397Ala) c.794-65C>G (n.794-65C>G) c.938C>G (p.Ala313Gly) c.790C>G (p.Pro264Ala) | |
8 | g.96144742G>T | CA371749997 | GDF6 | c.1189C>A (p.Pro397Thr) c.794-65C>A (n.794-65C>A) c.938C>A (p.Ala313Asp) c.790C>A (p.Pro264Thr) | |
8 | g.96144743C>A | CA371750000 | GDF6 | c.1188G>T (p.Glu396Asp) c.794-66G>T (n.794-66G>T) c.937G>T (p.Ala313Ser) c.789G>T (p.Glu263Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144743C= | CA1804260859 | GDF6 | c.1188G= (p.Glu396=) c.794-66G= (n.794-66G=) c.937G= (p.Ala313=) c.789G= (p.Glu263=) | |
8 | g.96144743C>G | CA371750002 | GDF6 | c.1188G>C (p.Glu396Asp) c.794-66G>C (n.794-66G>C) c.937G>C (p.Ala313Pro) c.789G>C (p.Glu263Asp) | |
8 | g.96144743C>T | CA371750003 | GDF6 | c.1188G>A (p.Glu396=) c.794-66G>A (n.794-66G>A) c.937G>A (p.Ala313Thr) c.789G>A (p.Glu263=) | |
8 | g.96144744T>A | CA371750004 | GDF6 | c.1187A>T (p.Glu396Val) c.794-67A>T (n.794-67A>T) c.936A>T (p.Gly312=) c.788A>T (p.Glu263Val) | |
8 | g.96144744T>C | CA371750005 | GDF6 | c.1187A>G (p.Glu396Gly) c.794-67A>G (n.794-67A>G) c.936A>G (p.Gly312=) c.788A>G (p.Glu263Gly) | |
8 | g.96144744T>G | CA371750006 | GDF6 | c.1187A>C (p.Glu396Ala) c.794-67A>C (n.794-67A>C) c.936A>C (p.Gly312=) c.788A>C (p.Glu263Ala) | |
8 | g.96144745C>A | CA371750007 | GDF6 | c.1186G>T (p.Glu396Ter) c.794-68G>T (n.794-68G>T) c.935G>T (p.Gly312Val) c.787G>T (p.Glu263Ter) | |
8 | g.96144745C= | CA1804260865 | GDF6 | c.1186G= (p.Glu396=) c.794-68G= (n.794-68G=) c.935G= (p.Gly312=) c.787G= (p.Glu263=) | |
8 | g.96144745C>G | CA371750008 | GDF6 | c.1186G>C (p.Glu396Gln) c.794-68G>C (n.794-68G>C) c.935G>C (p.Gly312Ala) c.787G>C (p.Glu263Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144745C>T | CA371750009 | GDF6 | c.1186G>A (p.Glu396Lys) c.794-68G>A (n.794-68G>A) c.935G>A (p.Gly312Glu) c.787G>A (p.Glu263Lys) | |
8 | g.96144746C>A | CA371750010 | GDF6 | c.1185G>T (p.Leu395=) c.794-69G>T (n.794-69G>T) c.934G>T (p.Gly312Ter) c.786G>T (p.Leu262=) | |
8 | g.96144746C>G | CA371750011 | GDF6 | c.1185G>C (p.Leu395=) c.794-69G>C (n.794-69G>C) c.934G>C (p.Gly312Arg) c.786G>C (p.Leu262=) | |
8 | g.96144746C>T | CA371750012 | GDF6 | c.1185G>A (p.Leu395=) c.794-69G>A (n.794-69G>A) c.934G>A (p.Gly312Arg) c.786G>A (p.Leu262=) | gnomAD v4 |
8 | g.96144747A>C | CA371750014 | GDF6 | c.1184T>G (p.Leu395Arg) c.794-70T>G (n.794-70T>G) c.933T>G (p.Pro311=) c.785T>G (p.Leu262Arg) | |
8 | g.96144747A>G | CA371750015 | GDF6 | c.1184T>C (p.Leu395Pro) c.794-70T>C (n.794-70T>C) c.933T>C (p.Pro311=) c.785T>C (p.Leu262Pro) | |
8 | g.96144747A>T | CA371750013 | GDF6 | c.1184T>A (p.Leu395Gln) c.794-70T>A (n.794-70T>A) c.933T>A (p.Pro311=) c.785T>A (p.Leu262Gln) | |
8 | g.96144748G>A | CA371750016 | GDF6 | c.1183C>T (p.Leu395=) c.794-71C>T (n.794-71C>T) c.932C>T (p.Pro311Leu) c.784C>T (p.Leu262=) | |
8 | g.96144748G>C | CA371750017 | GDF6 | c.1183C>G (p.Leu395Val) c.794-71C>G (n.794-71C>G) c.932C>G (p.Pro311Arg) c.784C>G (p.Leu262Val) | |
8 | g.96144748G>T | CA371750018 | GDF6 | c.1183C>A (p.Leu395Met) c.794-71C>A (n.794-71C>A) c.932C>A (p.Pro311His) c.784C>A (p.Leu262Met) | |
8 | g.96144749G>A | CA371750019 | GDF6 | c.1182C>T (p.His394=) c.794-72C>T (n.794-72C>T) c.931C>T (p.Pro311Ser) c.783C>T (p.His261=) | |
8 | g.96144749G>C | CA371750020 | GDF6 | c.1182C>G (p.His394Gln) c.794-72C>G (n.794-72C>G) c.931C>G (p.Pro311Ala) c.783C>G (p.His261Gln) | |
8 | g.96144749G>T | CA371750021 | GDF6 | c.1182C>A (p.His394Gln) c.794-72C>A (n.794-72C>A) c.931C>A (p.Pro311Thr) c.783C>A (p.His261Gln) | |
8 | g.96144750T>A | CA371750024 | GDF6 | c.1181A>T (p.His394Leu) c.794-73A>T (n.794-73A>T) c.930A>T (p.Ala310=) c.782A>T (p.His261Leu) | |
8 | g.96144750T>C | CA371750023 | GDF6 | c.1181A>G (p.His394Arg) c.794-73A>G (n.794-73A>G) c.930A>G (p.Ala310=) c.782A>G (p.His261Arg) | |
8 | g.96144750T>G | CA371750022 | GDF6 | c.1181A>C (p.His394Pro) c.794-73A>C (n.794-73A>C) c.930A>C (p.Ala310=) c.782A>C (p.His261Pro) | dbSNP |
8 | g.96144750T= | CA1804260871 | GDF6 | c.1181A= (p.His394=) c.794-73A= (n.794-73A=) c.930A= (p.Ala310=) c.782A= (p.His261=) | |
8 | g.96144751G>A | CA371750026 | GDF6 | c.1180C>T (p.His394Tyr) c.794-74C>T (n.794-74C>T) c.929C>T (p.Ala310Val) c.781C>T (p.His261Tyr) | |
8 | g.96144751G>C | CA371750027 | GDF6 | c.1180C>G (p.His394Asp) c.794-74C>G (n.794-74C>G) c.929C>G (p.Ala310Gly) c.781C>G (p.His261Asp) | |
8 | g.96144751G>T | CA371750028 | GDF6 | c.1180C>A (p.His394Asn) c.794-74C>A (n.794-74C>A) c.929C>A (p.Ala310Glu) c.781C>A (p.His261Asn) | |
8 | g.96144752C>A | CA4815355 | GDF6 | c.1179G>T (p.Ser393=) c.794-75G>T (n.794-75G>T) c.928G>T (p.Ala310Ser) c.780G>T (p.Ser260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96144752C= | CA1804260874 | GDF6 | c.1179G= (p.Ser393=) c.794-75G= (n.794-75G=) c.928G= (p.Ala310=) c.780G= (p.Ser260=) | |
8 | g.96144752C>G | CA371750030 | GDF6 | c.1179G>C (p.Ser393=) c.794-75G>C (n.794-75G>C) c.928G>C (p.Ala310Pro) c.780G>C (p.Ser260=) | gnomAD v4 |
8 | g.96144752C>T | CA371750032 | GDF6 | c.1179G>A (p.Ser393=) c.794-75G>A (n.794-75G>A) c.928G>A (p.Ala310Thr) c.780G>A (p.Ser260=) | gnomAD v4 |
8 | g.96144753G>A | CA181485021 | GDF6 | c.1178C>T (p.Ser393Leu) c.794-76C>T (n.794-76C>T) c.927C>T (p.Leu309=) c.779C>T (p.Ser260Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144753G>C | CA371750036 | GDF6 | c.1178C>G (p.Ser393Trp) c.794-76C>G (n.794-76C>G) c.927C>G (p.Leu309=) c.779C>G (p.Ser260Trp) | |
8 | g.96144753G= | CA1804260879 | GDF6 | c.1178C= (p.Ser393=) c.794-76C= (n.794-76C=) c.927C= (p.Leu309=) c.779C= (p.Ser260=) | |
8 | g.96144753G>T | CA371750034 | GDF6 | c.1178C>A (p.Ser393Ter) c.794-76C>A (n.794-76C>A) c.927C>A (p.Leu309=) c.779C>A (p.Ser260Ter) | |
8 | g.96144754A>C | CA371750038 | GDF6 | c.1177T>G (p.Ser393Ala) c.794-77T>G (n.794-77T>G) c.926T>G (p.Leu309Arg) c.778T>G (p.Ser260Ala) | |
8 | g.96144754A>G | CA371750040 | GDF6 | c.1177T>C (p.Ser393Pro) c.794-77T>C (n.794-77T>C) c.926T>C (p.Leu309Pro) c.778T>C (p.Ser260Pro) | |
8 | g.96144754A>T | CA371750042 | GDF6 | c.1177T>A (p.Ser393Thr) c.794-77T>A (n.794-77T>A) c.926T>A (p.Leu309His) c.778T>A (p.Ser260Thr) | |
8 | g.96144755G>A | CA371750043 | GDF6 | c.1176C>T (p.Arg392=) c.794-78C>T (n.794-78C>T) c.925C>T (p.Leu309Phe) c.777C>T (p.Arg259=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144755G>C | CA371750045 | GDF6 | c.1176C>G (p.Arg392=) c.794-78C>G (n.794-78C>G) c.925C>G (p.Leu309Val) c.777C>G (p.Arg259=) | |
8 | g.96144755G= | CA1804260885 | GDF6 | c.1176C= (p.Arg392=) c.794-78C= (n.794-78C=) c.925C= (p.Leu309=) c.777C= (p.Arg259=) | |
8 | g.96144755G>T | CA371750047 | GDF6 | c.1176C>A (p.Arg392=) c.794-78C>A (n.794-78C>A) c.925C>A (p.Leu309Ile) c.777C>A (p.Arg259=) | |
8 | g.96144756C>A | CA371750049 | GDF6 | c.1175G>T (p.Arg392Leu) c.794-79G>T (n.794-79G>T) c.924G>T (p.Ala308=) c.776G>T (p.Arg259Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144756C= | CA1804260890 | GDF6 | c.1175G= (p.Arg392=) c.794-79G= (n.794-79G=) c.924G= (p.Ala308=) c.776G= (p.Arg259=) | |
8 | g.96144756C>G | CA371750051 | GDF6 | c.1175G>C (p.Arg392Pro) c.794-79G>C (n.794-79G>C) c.924G>C (p.Ala308=) c.776G>C (p.Arg259Pro) | |
8 | g.96144756C>T | CA371750053 | GDF6 | c.1175G>A (p.Arg392His) c.794-79G>A (n.794-79G>A) c.924G>A (p.Ala308=) c.776G>A (p.Arg259His) | gnomAD v4 |
8 | g.96144757G>A | CA371750055 | GDF6 | c.1174C>T (p.Arg392Cys) c.794-80C>T (n.794-80C>T) c.923C>T (p.Ala308Val) c.775C>T (p.Arg259Cys) | COSMIC |
8 | g.96144757G>C | CA371750056 | GDF6 | c.1174C>G (p.Arg392Gly) c.794-80C>G (n.794-80C>G) c.923C>G (p.Ala308Gly) c.775C>G (p.Arg259Gly) | COSMIC |
8 | g.96144757G>T | CA371750058 | GDF6 | c.1174C>A (p.Arg392Ser) c.794-80C>A (n.794-80C>A) c.923C>A (p.Ala308Glu) c.775C>A (p.Arg259Ser) | |
8 | g.96144758C>A | CA371750059 | GDF6 | c.1173G>T (p.Leu391=) c.794-81G>T (n.794-81G>T) c.922G>T (p.Ala308Ser) c.774G>T (p.Leu258=) | |
8 | g.96144758C= | CA1804260891 | GDF6 | c.1173G= (p.Leu391=) c.794-81G= (n.794-81G=) c.922G= (p.Ala308=) c.774G= (p.Leu258=) | |
8 | g.96144758C>G | CA371750062 | GDF6 | c.1173G>C (p.Leu391=) c.794-81G>C (n.794-81G>C) c.922G>C (p.Ala308Pro) c.774G>C (p.Leu258=) | |
8 | g.96144758C>T | CA371750061 | GDF6 | c.1173G>A (p.Leu391=) c.794-81G>A (n.794-81G>A) c.922G>A (p.Ala308Thr) c.774G>A (p.Leu258=) | ClinVar dbSNP gnomAD v4 |
8 | g.96144759A>C | CA371750063 | GDF6 | c.1172T>G (p.Leu391Arg) c.794-82T>G (n.794-82T>G) c.921T>G (p.Ala307=) c.773T>G (p.Leu258Arg) | |
8 | g.96144759A>G | CA371750064 | GDF6 | c.1172T>C (p.Leu391Pro) c.794-82T>C (n.794-82T>C) c.921T>C (p.Ala307=) c.773T>C (p.Leu258Pro) | |
8 | g.96144759A>T | CA371750065 | GDF6 | c.1172T>A (p.Leu391Gln) c.794-82T>A (n.794-82T>A) c.921T>A (p.Ala307=) c.773T>A (p.Leu258Gln) | |
8 | g.96144760G>A | CA371750066 | GDF6 | c.1171C>T (p.Leu391=) c.794-83C>T (n.794-83C>T) c.920C>T (p.Ala307Val) c.772C>T (p.Leu258=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96144760G>C | CA371750067 | GDF6 | c.1171C>G (p.Leu391Val) c.794-83C>G (n.794-83C>G) c.920C>G (p.Ala307Gly) c.772C>G (p.Leu258Val) | |
8 | g.96144760G= | CA1804260892 | GDF6 | c.1171C= (p.Leu391=) c.794-83C= (n.794-83C=) c.920C= (p.Ala307=) c.772C= (p.Leu258=) | |
8 | g.96144760G>T | CA371750068 | GDF6 | c.1171C>A (p.Leu391Met) c.794-83C>A (n.794-83C>A) c.920C>A (p.Ala307Asp) c.772C>A (p.Leu258Met) | |
8 | g.96144761C>A | CA371750069 | GDF6 | c.1170G>T (p.Pro390=) c.794-84G>T (n.794-84G>T) c.919G>T (p.Ala307Ser) c.771G>T (p.Pro257=) | |
8 | g.96144761C= | CA1804260899 | GDF6 | c.1170G= (p.Pro390=) c.794-84G= (n.794-84G=) c.919G= (p.Ala307=) c.771G= (p.Pro257=) | |
8 | g.96144761C>G | CA371750070 | GDF6 | c.1170G>C (p.Pro390=) c.794-84G>C (n.794-84G>C) c.919G>C (p.Ala307Pro) c.771G>C (p.Pro257=) | dbSNP gnomAD v4 |
8 | g.96144761C>T | CA371750072 | GDF6 | c.1170G>A (p.Pro390=) c.794-84G>A (n.794-84G>A) c.919G>A (p.Ala307Thr) c.771G>A (p.Pro257=) | COSMIC |
8 | g.96144762G>A | CA371750074 | GDF6 | c.1169C>T (p.Pro390Leu) c.794-85C>T (n.794-85C>T) c.918C>T (p.Pro306=) c.770C>T (p.Pro257Leu) | |
8 | g.96144762G>C | CA371750075 | GDF6 | c.1169C>G (p.Pro390Arg) c.794-85C>G (n.794-85C>G) c.918C>G (p.Pro306=) c.770C>G (p.Pro257Arg) | |
8 | g.96144762G>T | CA371750077 | GDF6 | c.1169C>A (p.Pro390Gln) c.794-85C>A (n.794-85C>A) c.918C>A (p.Pro306=) c.770C>A (p.Pro257Gln) | |
8 | g.96144763G>A | CA371750083 | GDF6 | c.1168C>T (p.Pro390Ser) c.794-86C>T (n.794-86C>T) c.917C>T (p.Pro306Leu) c.769C>T (p.Pro257Ser) | |
8 | g.96144763G>C | CA371750081 | GDF6 | c.1168C>G (p.Pro390Ala) c.794-86C>G (n.794-86C>G) c.917C>G (p.Pro306Arg) c.769C>G (p.Pro257Ala) | |
8 | g.96144763G>T | CA371750080 | GDF6 | c.1168C>A (p.Pro390Thr) c.794-86C>A (n.794-86C>A) c.917C>A (p.Pro306His) c.769C>A (p.Pro257Thr) | |
8 | g.96144764G>A | CA371750086 | GDF6 | c.1167C>T (p.Phe389=) c.794-87C>T (n.794-87C>T) c.916C>T (p.Pro306Ser) c.768C>T (p.Phe256=) | gnomAD v4 COSMIC |
8 | g.96144764G>C | CA371750088 | GDF6 | c.1167C>G (p.Phe389Leu) c.794-87C>G (n.794-87C>G) c.916C>G (p.Pro306Ala) c.768C>G (p.Phe256Leu) | |
8 | g.96144764G>T | CA371750089 | GDF6 | c.1167C>A (p.Phe389Leu) c.794-87C>A (n.794-87C>A) c.916C>A (p.Pro306Thr) c.768C>A (p.Phe256Leu) | |
8 | g.96144765A>C | CA371750092 | GDF6 | c.1166T>G (p.Phe389Cys) c.794-88T>G (n.794-88T>G) c.915T>G (p.Leu305=) c.767T>G (p.Phe256Cys) | |
8 | g.96144765A>G | CA371750094 | GDF6 | c.1166T>C (p.Phe389Ser) c.794-88T>C (n.794-88T>C) c.915T>C (p.Leu305=) c.767T>C (p.Phe256Ser) | |
8 | g.96144765A>T | CA371750095 | GDF6 | c.1166T>A (p.Phe389Tyr) c.794-88T>A (n.794-88T>A) c.915T>A (p.Leu305=) c.767T>A (p.Phe256Tyr) | |
8 | g.96144766A>C | CA371750097 | GDF6 | c.1165T>G (p.Phe389Val) c.794-89T>G (n.794-89T>G) c.914T>G (p.Leu305Arg) c.766T>G (p.Phe256Val) | |
8 | g.96144766A>G | CA371750099 | GDF6 | c.1165T>C (p.Phe389Leu) c.794-89T>C (n.794-89T>C) c.914T>C (p.Leu305Pro) c.766T>C (p.Phe256Leu) | |
8 | g.96144766A>T | CA371750101 | GDF6 | c.1165T>A (p.Phe389Ile) c.794-89T>A (n.794-89T>A) c.914T>A (p.Leu305His) c.766T>A (p.Phe256Ile) | |
8 | g.96144767G>A | CA371750103 | GDF6 | c.1164C>T (p.Asp388=) c.794-90C>T (n.794-90C>T) c.913C>T (p.Leu305Phe) c.765C>T (p.Asp255=) | |
8 | g.96144767G>C | CA371750105 | GDF6 | c.1164C>G (p.Asp388Glu) c.794-90C>G (n.794-90C>G) c.913C>G (p.Leu305Val) c.765C>G (p.Asp255Glu) | |
8 | g.96144767G>T | CA371750109 | GDF6 | c.1164C>A (p.Asp388Glu) c.794-90C>A (n.794-90C>A) c.913C>A (p.Leu305Ile) c.765C>A (p.Asp255Glu) | |
8 | g.96144768T>A | CA371750112 | GDF6 | c.1163A>T (p.Asp388Val) c.794-91A>T (n.794-91A>T) c.912A>T (p.Arg304=) c.764A>T (p.Asp255Val) | |
8 | g.96144768T>C | CA371750116 | GDF6 | c.1163A>G (p.Asp388Gly) c.794-91A>G (n.794-91A>G) c.912A>G (p.Arg304=) c.764A>G (p.Asp255Gly) | |
8 | g.96144768T>G | CA371750114 | GDF6 | c.1163A>C (p.Asp388Ala) c.794-91A>C (n.794-91A>C) c.912A>C (p.Arg304=) c.764A>C (p.Asp255Ala) | |
8 | g.96144769C>A | CA371750118 | GDF6 | c.1162G>T (p.Asp388Tyr) c.794-92G>T (n.794-92G>T) c.911G>T (p.Arg304Leu) c.763G>T (p.Asp255Tyr) | |
8 | g.96144769C>G | CA371750122 | GDF6 | c.1162G>C (p.Asp388His) c.794-92G>C (n.794-92G>C) c.911G>C (p.Arg304Pro) c.763G>C (p.Asp255His) | |
8 | g.96144769C>T | CA371750120 | GDF6 | c.1162G>A (p.Asp388Asn) c.794-92G>A (n.794-92G>A) c.911G>A (p.Arg304Gln) c.763G>A (p.Asp255Asn) | gnomAD v4 COSMIC |
8 | g.96144770G>A | CA4815356 | GDF6 | c.1161C>T (p.Cys387=) c.794-93C>T (n.794-93C>T) c.910C>T (p.Arg304Ter) c.762C>T (p.Cys254=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96144770G>C | CA371750125 | GDF6 | c.1161C>G (p.Cys387Trp) c.794-93C>G (n.794-93C>G) c.910C>G (p.Arg304Gly) c.762C>G (p.Cys254Trp) | |
8 | g.96144770G= | CA1804260902 | GDF6 | c.1161C= (p.Cys387=) c.794-93C= (n.794-93C=) c.910C= (p.Arg304=) c.762C= (p.Cys254=) | |
8 | g.96144770G>T | CA371750124 | GDF6 | c.1161C>A (p.Cys387Ter) c.794-93C>A (n.794-93C>A) c.910C>A (p.Arg304=) c.762C>A (p.Cys254Ter) |