Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.96145081A= | CA1804261738 | GDF6 | c.850T= (p.Ser284=) c.788T= (p.Ile263=) c.451T= (p.Ser151=) | |
8 | g.96145081A>C | CA371751672 | GDF6 | c.850T>G (p.Ser284Ala) c.788T>G (p.Ile263Ser) c.451T>G (p.Ser151Ala) | |
8 | g.96145081A>G | CA371751673 | GDF6 | c.850T>C (p.Ser284Pro) c.788T>C (p.Ile263Thr) c.451T>C (p.Ser151Pro) | dbSNP gnomAD v4 |
8 | g.96145081A>T | CA371751674 | GDF6 | c.850T>A (p.Ser284Thr) c.788T>A (p.Ile263Asn) c.451T>A (p.Ser151Thr) | |
8 | g.96145082T>A | CA371751677 | GDF6 | c.849A>T (p.Arg283Ser) c.787A>T (p.Ile263Phe) c.450A>T (p.Arg150Ser) | gnomAD v4 |
8 | g.96145082T>C | CA371751675 | GDF6 | c.849A>G (p.Arg283=) c.787A>G (p.Ile263Val) c.450A>G (p.Arg150=) | gnomAD v4 |
8 | g.96145082T>G | CA371751676 | GDF6 | c.849A>C (p.Arg283Ser) c.787A>C (p.Ile263Leu) c.450A>C (p.Arg150Ser) | |
8 | g.96145083C>A | CA371751678 | GDF6 | c.848G>T (p.Arg283Ile) c.786G>T (p.Gln262His) c.449G>T (p.Arg150Ile) | gnomAD v4 |
8 | g.96145083C= | CA1804261743 | GDF6 | c.848G= (p.Arg283=) c.786G= (p.Gln262=) c.449G= (p.Arg150=) | |
8 | g.96145083C>G | CA371751679 | GDF6 | c.848G>C (p.Arg283Thr) c.786G>C (p.Gln262His) c.449G>C (p.Arg150Thr) | gnomAD v4 |
8 | g.96145083C>T | CA371751680 | GDF6 | c.848G>A (p.Arg283Lys) c.786G>A (p.Gln262=) c.449G>A (p.Arg150Lys) | dbSNP gnomAD v4 |
8 | g.96145084T>A | CA371751681 | GDF6 | c.847A>T (p.Arg283Ter) c.785A>T (p.Gln262Leu) c.448A>T (p.Arg150Ter) | gnomAD v4 |
8 | g.96145084T>C | CA371751682 | GDF6 | c.847A>G (p.Arg283Gly) c.785A>G (p.Gln262Arg) c.448A>G (p.Arg150Gly) | gnomAD v4 |
8 | g.96145084T>G | CA371751683 | GDF6 | c.847A>C (p.Arg283=) c.785A>C (p.Gln262Pro) c.448A>C (p.Arg150=) | |
8 | g.96145085G>A | CA371751684 | GDF6 | c.846C>T (p.Thr282=) c.784C>T (p.Gln262Ter) c.447C>T (p.Thr149=) | gnomAD v4 |
8 | g.96145085G>C | CA371751685 | GDF6 | c.846C>G (p.Thr282=) c.784C>G (p.Gln262Glu) c.447C>G (p.Thr149=) | |
8 | g.96145085G>T | CA371751686 | GDF6 | c.846C>A (p.Thr282=) c.784C>A (p.Gln262Lys) c.447C>A (p.Thr149=) | gnomAD v4 |
8 | g.96145086del | CA2687993714 | GDF6 | c.846del (p.Arg283AspfsTer?) c.784del (p.Gln262ArgfsTer23) c.447del (p.Arg150AspfsTer?) | gnomAD v4 |
8 | g.96145086G>A | CA371751687 | GDF6 | c.845C>T (p.Thr282Ile) c.783C>T (p.His261=) c.446C>T (p.Thr149Ile) | gnomAD v4 |
8 | g.96145086G>C | CA371751688 | GDF6 | c.845C>G (p.Thr282Ser) c.783C>G (p.His261Gln) c.446C>G (p.Thr149Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145086G= | CA1804261748 | GDF6 | c.845C= (p.Thr282=) c.783C= (p.His261=) c.446C= (p.Thr149=) | |
8 | g.96145086G>T | CA371751689 | GDF6 | c.845C>A (p.Thr282Asn) c.783C>A (p.His261Gln) c.446C>A (p.Thr149Asn) | gnomAD v4 |
8 | g.96145087T>A | CA371751692 | GDF6 | c.844A>T (p.Thr282Ser) c.782A>T (p.His261Leu) c.445A>T (p.Thr149Ser) | gnomAD v4 |
8 | g.96145087T>C | CA371751691 | GDF6 | c.844A>G (p.Thr282Ala) c.782A>G (p.His261Arg) c.445A>G (p.Thr149Ala) | gnomAD v4 |
8 | g.96145087T>G | CA371751690 | GDF6 | c.844A>C (p.Thr282Pro) c.782A>C (p.His261Pro) c.445A>C (p.Thr149Pro) | gnomAD v4 |
8 | g.96145088G>A | CA371751694 | GDF6 | c.843C>T (p.Phe281=) c.781C>T (p.His261Tyr) c.444C>T (p.Phe148=) | gnomAD v4 |
8 | g.96145088G>C | CA371751693 | GDF6 | c.843C>G (p.Phe281Leu) c.781C>G (p.His261Asp) c.444C>G (p.Phe148Leu) | dbSNP |
8 | g.96145088G= | CA1804261754 | GDF6 | c.843C= (p.Phe281=) c.781C= (p.His261=) c.444C= (p.Phe148=) | |
8 | g.96145088G>T | CA371751695 | GDF6 | c.843C>A (p.Phe281Leu) c.781C>A (p.His261Asn) c.444C>A (p.Phe148Leu) | gnomAD v4 |
8 | g.96145089A>C | CA371751696 | GDF6 | c.842T>G (p.Phe281Cys) c.780T>G (p.Ile260Met) c.443T>G (p.Phe148Cys) | |
8 | g.96145089A>G | CA371751697 | GDF6 | c.842T>C (p.Phe281Ser) c.780T>C (p.Ile260=) c.443T>C (p.Phe148Ser) | dbSNP gnomAD v4 |
8 | g.96145089A>T | CA371751698 | GDF6 | c.842T>A (p.Phe281Tyr) c.780T>A (p.Ile260=) c.443T>A (p.Phe148Tyr) | |
8 | g.96145090A>C | CA371751699 | GDF6 | c.841T>G (p.Phe281Val) c.779T>G (p.Ile260Ser) c.442T>G (p.Phe148Val) | |
8 | g.96145090A>G | CA371751700 | GDF6 | c.841T>C (p.Phe281Leu) c.779T>C (p.Ile260Thr) c.442T>C (p.Phe148Leu) | gnomAD v4 |
8 | g.96145090A>T | CA371751701 | GDF6 | c.841T>A (p.Phe281Ile) c.779T>A (p.Ile260Asn) c.442T>A (p.Phe148Ile) | gnomAD v4 |
8 | g.96145091T>A | CA371751702 | GDF6 | c.840A>T (p.Val280=) c.778A>T (p.Ile260Phe) c.441A>T (p.Val147=) | gnomAD v4 |
8 | g.96145091T>C | CA371751703 | GDF6 | c.840A>G (p.Val280=) c.778A>G (p.Ile260Val) c.441A>G (p.Val147=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145091T>G | CA371751704 | GDF6 | c.840A>C (p.Val280=) c.778A>C (p.Ile260Leu) c.441A>C (p.Val147=) | |
8 | g.96145091T= | CA1804261761 | GDF6 | c.840A= (p.Val280=) c.778A= (p.Ile260=) c.441A= (p.Val147=) | |
8 | g.96145092A>C | CA371751705 | GDF6 | c.839T>G (p.Val280Gly) c.777T>G (p.Gly259=) c.440T>G (p.Val147Gly) | |
8 | g.96145092A>G | CA371751706 | GDF6 | c.839T>C (p.Val280Ala) c.777T>C (p.Gly259=) c.440T>C (p.Val147Ala) | gnomAD v4 |
8 | g.96145092A>T | CA371751707 | GDF6 | c.839T>A (p.Val280Glu) c.777T>A (p.Gly259=) c.440T>A (p.Val147Glu) | |
8 | g.96145096_96145098del | CA2687993743 | GDF6 | c.837_839del (p.Val280del) c.775_777del (p.Gly259del) c.438_440del (p.Val147del) | gnomAD v4 |
8 | g.96145093C>A | CA371751710 | GDF6 | c.838G>T (p.Val280Leu) c.776G>T (p.Gly259Val) c.439G>T (p.Val147Leu) | gnomAD v4 |
8 | g.96145093C>G | CA371751708 | GDF6 | c.838G>C (p.Val280Leu) c.776G>C (p.Gly259Ala) c.439G>C (p.Val147Leu) | gnomAD v4 |
8 | g.96145093C>T | CA371751709 | GDF6 | c.838G>A (p.Val280Ile) c.776G>A (p.Gly259Asp) c.439G>A (p.Val147Ile) | gnomAD v4 |
8 | g.96145094del | CA2687993749 | GDF6 | c.838del (p.Val280TyrfsTer?) c.776del (p.Gly259ValfsTer26) c.439del (p.Val147TyrfsTer?) | gnomAD v4 |
8 | g.96145094C>A | CA371751711 | GDF6 | c.837G>T (p.Val279=) c.775G>T (p.Gly259Cys) c.438G>T (p.Val146=) | gnomAD v4 |
8 | g.96145094C= | CA1804261769 | GDF6 | c.837G= (p.Val279=) c.775G= (p.Gly259=) c.438G= (p.Val146=) | |
8 | g.96145094C>G | CA371751712 | GDF6 | c.837G>C (p.Val279=) c.775G>C (p.Gly259Arg) c.438G>C (p.Val146=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145094C>T | CA371751713 | GDF6 | c.837G>A (p.Val279=) c.775G>A (p.Gly259Ser) c.438G>A (p.Val146=) | dbSNP gnomAD v4 |
8 | g.96145095A>C | CA371751714 | GDF6 | c.836T>G (p.Val279Gly) c.774T>G (p.Gly258=) c.437T>G (p.Val146Gly) | |
8 | g.96145095A>G | CA371751715 | GDF6 | c.836T>C (p.Val279Ala) c.774T>C (p.Gly258=) c.437T>C (p.Val146Ala) | gnomAD v4 |
8 | g.96145095A>T | CA371751716 | GDF6 | c.836T>A (p.Val279Glu) c.774T>A (p.Gly258=) c.437T>A (p.Val146Glu) | |
8 | g.96145096C>A | CA371751717 | GDF6 | c.835G>T (p.Val279Leu) c.773G>T (p.Gly258Val) c.436G>T (p.Val146Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145096C= | CA1804261779 | GDF6 | c.835G= (p.Val279=) c.773G= (p.Gly258=) c.436G= (p.Val146=) | |
8 | g.96145096C>G | CA371751718 | GDF6 | c.835G>C (p.Val279Leu) c.773G>C (p.Gly258Ala) c.436G>C (p.Val146Leu) | gnomAD v4 |
8 | g.96145096C>T | CA371751719 | GDF6 | c.835G>A (p.Val279Met) c.773G>A (p.Gly258Asp) c.436G>A (p.Val146Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145097del | CA2687993762 | GDF6 | c.835del (p.Val279TrpfsTer?) c.773del (p.Gly258ValfsTer27) c.436del (p.Val146TrpfsTer?) | gnomAD v4 |
8 | g.96145097C>A | CA371751720 | GDF6 | c.834G>T (p.Leu278=) c.772G>T (p.Gly258Cys) c.435G>T (p.Leu145=) | gnomAD v4 |
8 | g.96145097C>G | CA371751721 | GDF6 | c.834G>C (p.Leu278=) c.772G>C (p.Gly258Arg) c.435G>C (p.Leu145=) | gnomAD v4 |
8 | g.96145097C>T | CA371751722 | GDF6 | c.834G>A (p.Leu278=) c.772G>A (p.Gly258Ser) c.435G>A (p.Leu145=) | gnomAD v4 |
8 | g.96145098A>C | CA371751725 | GDF6 | c.833T>G (p.Leu278Arg) c.771T>G (p.Ala257=) c.434T>G (p.Leu145Arg) | |
8 | g.96145098A>G | CA371751724 | GDF6 | c.833T>C (p.Leu278Pro) c.771T>C (p.Ala257=) c.434T>C (p.Leu145Pro) | gnomAD v4 |
8 | g.96145098A>T | CA371751723 | GDF6 | c.833T>A (p.Leu278Gln) c.771T>A (p.Ala257=) c.434T>A (p.Leu145Gln) | |
8 | g.96145099G>A | CA371751728 | GDF6 | c.832C>T (p.Leu278=) c.770C>T (p.Ala257Val) c.433C>T (p.Leu145=) | ClinVar dbSNP gnomAD v4 |
8 | g.96145099G>C | CA371751726 | GDF6 | c.832C>G (p.Leu278Val) c.770C>G (p.Ala257Gly) c.433C>G (p.Leu145Val) | gnomAD v4 |
8 | g.96145099G>T | CA371751727 | GDF6 | c.832C>A (p.Leu278Met) c.770C>A (p.Ala257Asp) c.433C>A (p.Leu145Met) | gnomAD v4 |
8 | g.96145100del | CA2687993781 | GDF6 | c.831del (p.Leu278TrpfsTer?) c.769del (p.Ala257LeufsTer28) c.432del (p.Leu145TrpfsTer?) | gnomAD v4 |
8 | g.96145100C>A | CA371751729 | GDF6 | c.831G>T (p.Leu277=) c.769G>T (p.Ala257Ser) c.432G>T (p.Leu144=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145100C= | CA1804261785 | GDF6 | c.831G= (p.Leu277=) c.769G= (p.Ala257=) c.432G= (p.Leu144=) | |
8 | g.96145100C>G | CA371751730 | GDF6 | c.831G>C (p.Leu277=) c.769G>C (p.Ala257Pro) c.432G>C (p.Leu144=) | |
8 | g.96145100C>T | CA371751731 | GDF6 | c.831G>A (p.Leu277=) c.769G>A (p.Ala257Thr) c.432G>A (p.Leu144=) | gnomAD v4 |
8 | g.96145101A= | CA1804261791 | GDF6 | c.830T= (p.Leu277=) c.768T= (p.Pro256=) c.431T= (p.Leu144=) | |
8 | g.96145101A>C | CA371751733 | GDF6 | c.830T>G (p.Leu277Arg) c.768T>G (p.Pro256=) c.431T>G (p.Leu144Arg) | |
8 | g.96145101A>G | CA371751732 | GDF6 | c.830T>C (p.Leu277Pro) c.768T>C (p.Pro256=) c.431T>C (p.Leu144Pro) | gnomAD v4 |
8 | g.96145101A>T | CA4815402 | GDF6 | c.830T>A (p.Leu277Gln) c.768T>A (p.Pro256=) c.431T>A (p.Leu144Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145102G>A | CA181485032 | GDF6 | c.829C>T (p.Leu277=) c.767C>T (p.Pro256Leu) c.430C>T (p.Leu144=) | dbSNP gnomAD v4 |
8 | g.96145102G>C | CA371751734 | GDF6 | c.829C>G (p.Leu277Val) c.767C>G (p.Pro256Arg) c.430C>G (p.Leu144Val) | |
8 | g.96145102G= | CA1804261794 | GDF6 | c.829C= (p.Leu277=) c.767C= (p.Pro256=) c.430C= (p.Leu144=) | |
8 | g.96145102G>T | CA371751735 | GDF6 | c.829C>A (p.Leu277Met) c.767C>A (p.Pro256His) c.430C>A (p.Leu144Met) | gnomAD v4 |
8 | g.96145104del | CA2840294833 | GDF6 | c.829del (p.Leu277CysfsTer?) c.767del (p.Pro256LeufsTer29) c.430del (p.Leu144CysfsTer?) | |
8 | g.96145103G>A | CA371751736 | GDF6 | c.828C>T (p.Ala276=) c.766C>T (p.Pro256Ser) c.429C>T (p.Ala143=) | gnomAD v4 |
8 | g.96145103G>C | CA371751737 | GDF6 | c.828C>G (p.Ala276=) c.766C>G (p.Pro256Ala) c.429C>G (p.Ala143=) | dbSNP |
8 | g.96145103G= | CA1804261801 | GDF6 | c.828C= (p.Ala276=) c.766C= (p.Pro256=) c.429C= (p.Ala143=) | |
8 | g.96145103G>T | CA371751738 | GDF6 | c.828C>A (p.Ala276=) c.766C>A (p.Pro256Thr) c.429C>A (p.Ala143=) | gnomAD v4 |
8 | g.96145104G>A | CA371751739 | GDF6 | c.827C>T (p.Ala276Val) c.765C>T (p.Gly255=) c.428C>T (p.Ala143Val) | gnomAD v4 COSMIC |
8 | g.96145104G>C | CA181485033 | GDF6 | c.827C>G (p.Ala276Gly) c.765C>G (p.Gly255=) c.428C>G (p.Ala143Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145104G= | CA1804261807 | GDF6 | c.827C= (p.Ala276=) c.765C= (p.Gly255=) c.428C= (p.Ala143=) | |
8 | g.96145104G>T | CA371751740 | GDF6 | c.827C>A (p.Ala276Asp) c.765C>A (p.Gly255=) c.428C>A (p.Ala143Asp) | gnomAD v4 |
8 | g.96145105C>A | CA371751741 | GDF6 | c.826G>T (p.Ala276Ser) c.764G>T (p.Gly255Val) c.427G>T (p.Ala143Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145105C= | CA1804261816 | GDF6 | c.826G= (p.Ala276=) c.764G= (p.Gly255=) c.427G= (p.Ala143=) | |
8 | g.96145105C>G | CA371751742 | GDF6 | c.826G>C (p.Ala276Pro) c.764G>C (p.Gly255Ala) c.427G>C (p.Ala143Pro) | |
8 | g.96145105C>T | CA371751743 | GDF6 | c.826G>A (p.Ala276Thr) c.764G>A (p.Gly255Asp) c.427G>A (p.Ala143Thr) | gnomAD v4 |
8 | g.96145107dup | CA583845611 | GDF6 | c.826dup (p.Ala276GlyfsTer?) c.764dup (p.Ala257CysfsTer?) c.427dup (p.Ala143GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145107del | CA2687993794 | GDF6 | c.826del (p.Ala276ProfsTer?) c.764del (p.Gly255AlafsTer30) c.427del (p.Ala143ProfsTer?) | gnomAD v4 |
8 | g.96145106C>A | CA371751744 | GDF6 | c.825G>T (p.Arg275=) c.763G>T (p.Gly255Cys) c.426G>T (p.Arg142=) | gnomAD v4 |
8 | g.96145106C>G | CA371751745 | GDF6 | c.825G>C (p.Arg275=) c.763G>C (p.Gly255Arg) c.426G>C (p.Arg142=) | gnomAD v4 |
8 | g.96145106C>T | CA371751746 | GDF6 | c.825G>A (p.Arg275=) c.763G>A (p.Gly255Ser) c.426G>A (p.Arg142=) | gnomAD v4 |
8 | g.96145107C>A | CA371751747 | GDF6 | c.824G>T (p.Arg275Leu) c.762G>T (p.Ala254=) c.425G>T (p.Arg142Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145107C= | CA1804261821 | GDF6 | c.824G= (p.Arg275=) c.762G= (p.Ala254=) c.425G= (p.Arg142=) | |
8 | g.96145107C>G | CA371751748 | GDF6 | c.824G>C (p.Arg275Pro) c.762G>C (p.Ala254=) c.425G>C (p.Arg142Pro) | gnomAD v4 |
8 | g.96145107C>T | CA371751749 | GDF6 | c.824G>A (p.Arg275Gln) c.762G>A (p.Ala254=) c.425G>A (p.Arg142Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145108G>A | CA371751750 | GDF6 | c.823C>T (p.Arg275Trp) c.761C>T (p.Ala254Val) c.424C>T (p.Arg142Trp) | gnomAD v4 |
8 | g.96145108G>C | CA371751751 | GDF6 | c.823C>G (p.Arg275Gly) c.761C>G (p.Ala254Gly) c.424C>G (p.Arg142Gly) | gnomAD v4 |
8 | g.96145108G= | CA1804261823 | GDF6 | c.823C= (p.Arg275=) c.761C= (p.Ala254=) c.424C= (p.Arg142=) | |
8 | g.96145108G>T | CA371751752 | GDF6 | c.823C>A (p.Arg275=) c.761C>A (p.Ala254Glu) c.424C>A (p.Arg142=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145109C>A | CA371751754 | GDF6 | c.822G>T (p.Glu274Asp) c.760G>T (p.Ala254Ser) c.423G>T (p.Glu141Asp) | gnomAD v4 |
8 | g.96145109C>G | CA371751755 | GDF6 | c.822G>C (p.Glu274Asp) c.760G>C (p.Ala254Pro) c.423G>C (p.Glu141Asp) | |
8 | g.96145109C>T | CA371751753 | GDF6 | c.822G>A (p.Glu274=) c.760G>A (p.Ala254Thr) c.423G>A (p.Glu141=) | gnomAD v4 |
8 | g.96145110T>A | CA371751756 | GDF6 | c.821A>T (p.Glu274Val) c.759A>T (p.Gly253=) c.422A>T (p.Glu141Val) | |
8 | g.96145110T>C | CA4815403 | GDF6 | c.821A>G (p.Glu274Gly) c.759A>G (p.Gly253=) c.422A>G (p.Glu141Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145110T>G | CA371751757 | GDF6 | c.821A>C (p.Glu274Ala) c.759A>C (p.Gly253=) c.422A>C (p.Glu141Ala) | |
8 | g.96145110T= | CA1804261828 | GDF6 | c.821A= (p.Glu274=) c.759A= (p.Gly253=) c.422A= (p.Glu141=) | |
8 | g.96145111C>A | CA371751758 | GDF6 | c.820G>T (p.Glu274Ter) c.758G>T (p.Gly253Val) c.421G>T (p.Glu141Ter) | gnomAD v4 |
8 | g.96145111C>G | CA371751759 | GDF6 | c.820G>C (p.Glu274Gln) c.758G>C (p.Gly253Ala) c.421G>C (p.Glu141Gln) | |
8 | g.96145111C>T | CA371751760 | GDF6 | c.820G>A (p.Glu274Lys) c.758G>A (p.Gly253Glu) c.421G>A (p.Glu141Lys) | gnomAD v4 |
8 | g.96145112C>A | CA371751763 | GDF6 | c.819G>T (p.Gln273His) c.757G>T (p.Gly253Ter) c.420G>T (p.Gln140His) | dbSNP gnomAD v4 |
8 | g.96145112C= | CA1804261836 | GDF6 | c.819G= (p.Gln273=) c.757G= (p.Gly253=) c.420G= (p.Gln140=) | |
8 | g.96145112C>G | CA371751762 | GDF6 | c.819G>C (p.Gln273His) c.757G>C (p.Gly253Arg) c.420G>C (p.Gln140His) | |
8 | g.96145112C>T | CA371751761 | GDF6 | c.819G>A (p.Gln273=) c.757G>A (p.Gly253Arg) c.420G>A (p.Gln140=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145113T>A | CA371751764 | GDF6 | c.818A>T (p.Gln273Leu) c.756A>T (p.Pro252=) c.419A>T (p.Gln140Leu) | gnomAD v4 |
8 | g.96145113T>C | CA371751765 | GDF6 | c.818A>G (p.Gln273Arg) c.756A>G (p.Pro252=) c.419A>G (p.Gln140Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145113T>G | CA371751766 | GDF6 | c.818A>C (p.Gln273Pro) c.756A>C (p.Pro252=) c.419A>C (p.Gln140Pro) | |
8 | g.96145113T= | CA1804261843 | GDF6 | c.818A= (p.Gln273=) c.756A= (p.Pro252=) c.419A= (p.Gln140=) | |
8 | g.96145113_96145114delinsTG | CA1804261842 | GDF6 | c.817_818delinsCA (p.Gln273=) c.755_756delinsCA (p.Pro252=) c.418_419delinsCA (p.Gln140=) | |
8 | g.96145114G>A | CA371751767 | GDF6 | c.817C>T (p.Gln273Ter) c.755C>T (p.Pro252Leu) c.418C>T (p.Gln140Ter) | gnomAD v4 |
8 | g.96145114G>C | CA371751768 | GDF6 | c.817C>G (p.Gln273Glu) c.755C>G (p.Pro252Arg) c.418C>G (p.Gln140Glu) | gnomAD v4 |
8 | g.96145114G= | CA1804261851 | GDF6 | c.817C= (p.Gln273=) c.755C= (p.Pro252=) c.418C= (p.Gln140=) | |
8 | g.96145114G>T | CA4815404 | GDF6 | c.817C>A (p.Gln273Lys) c.755C>A (p.Pro252Gln) c.418C>A (p.Gln140Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145117del | CA583845612 | GDF6 | c.817del (p.Gln273ArgfsTer?) c.755del (p.Pro252GlnfsTer?) c.418del (p.Gln140ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145115G>A | CA371751769 | GDF6 | c.816C>T (p.Pro272=) c.754C>T (p.Pro252Ser) c.417C>T (p.Pro139=) | gnomAD v4 |
8 | g.96145115G>C | CA371751771 | GDF6 | c.816C>G (p.Pro272=) c.754C>G (p.Pro252Ala) c.417C>G (p.Pro139=) | gnomAD v4 |
8 | g.96145115G>T | CA371751770 | GDF6 | c.816C>A (p.Pro272=) c.754C>A (p.Pro252Thr) c.417C>A (p.Pro139=) | gnomAD v4 |
8 | g.96145116G>A | CA4815405 | GDF6 | c.815C>T (p.Pro272Leu) c.753C>T (p.Ser251=) c.416C>T (p.Pro139Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145116G>C | CA371751772 | GDF6 | c.815C>G (p.Pro272Arg) c.753C>G (p.Ser251=) c.416C>G (p.Pro139Arg) | |
8 | g.96145116G= | CA1804261863 | GDF6 | c.815C= (p.Pro272=) c.753C= (p.Ser251=) c.416C= (p.Pro139=) | |
8 | g.96145116G>T | CA371751773 | GDF6 | c.815C>A (p.Pro272His) c.753C>A (p.Ser251=) c.416C>A (p.Pro139His) | gnomAD v4 |
8 | g.96145117G>A | CA4815406 | GDF6 | c.814C>T (p.Pro272Ser) c.752C>T (p.Ser251Phe) c.415C>T (p.Pro139Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145117G>C | CA371751774 | GDF6 | c.814C>G (p.Pro272Ala) c.752C>G (p.Ser251Cys) c.415C>G (p.Pro139Ala) | gnomAD v4 |
8 | g.96145117G= | CA1804261877 | GDF6 | c.814C= (p.Pro272=) c.752C= (p.Ser251=) c.415C= (p.Pro139=) | |
8 | g.96145117G>T | CA371751775 | GDF6 | c.814C>A (p.Pro272Thr) c.752C>A (p.Ser251Tyr) c.415C>A (p.Pro139Thr) | gnomAD v4 |
8 | g.96145118A>C | CA371751776 | GDF6 | c.813T>G (p.Pro271=) c.751T>G (p.Ser251Ala) c.414T>G (p.Pro138=) | |
8 | g.96145118A>G | CA371751777 | GDF6 | c.813T>C (p.Pro271=) c.751T>C (p.Ser251Pro) c.414T>C (p.Pro138=) | gnomAD v4 |
8 | g.96145118A>T | CA371751778 | GDF6 | c.813T>A (p.Pro271=) c.751T>A (p.Ser251Thr) c.414T>A (p.Pro138=) | |
8 | g.96145119G>A | CA371751779 | GDF6 | c.812C>T (p.Pro271Leu) c.750C>T (p.Ala250=) c.413C>T (p.Pro138Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.96145119G>C | CA371751780 | GDF6 | c.812C>G (p.Pro271Arg) c.750C>G (p.Ala250=) c.413C>G (p.Pro138Arg) | |
8 | g.96145119G>T | CA371751781 | GDF6 | c.812C>A (p.Pro271His) c.750C>A (p.Ala250=) c.413C>A (p.Pro138His) | gnomAD v4 |
8 | g.96145120G>A | CA371751782 | GDF6 | c.811C>T (p.Pro271Ser) c.749C>T (p.Ala250Val) c.412C>T (p.Pro138Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145120G>C | CA371751784 | GDF6 | c.811C>G (p.Pro271Ala) c.749C>G (p.Ala250Gly) c.412C>G (p.Pro138Ala) | |
8 | g.96145120G= | CA1804261886 | GDF6 | c.811C= (p.Pro271=) c.749C= (p.Ala250=) c.412C= (p.Pro138=) | |
8 | g.96145120G>T | CA371751783 | GDF6 | c.811C>A (p.Pro271Thr) c.749C>A (p.Ala250Asp) c.412C>A (p.Pro138Thr) | gnomAD v4 COSMIC |
8 | g.96145121C>A | CA371751785 | GDF6 | c.810G>T (p.Arg270=) c.748G>T (p.Ala250Ser) c.411G>T (p.Arg137=) | gnomAD v4 |
8 | g.96145121C= | CA1804261890 | GDF6 | c.810G= (p.Arg270=) c.748G= (p.Ala250=) c.411G= (p.Arg137=) | |
8 | g.96145121C>G | CA371751786 | GDF6 | c.810G>C (p.Arg270=) c.748G>C (p.Ala250Pro) c.411G>C (p.Arg137=) | |
8 | g.96145121C>T | CA371751787 | GDF6 | c.810G>A (p.Arg270=) c.748G>A (p.Ala250Thr) c.411G>A (p.Arg137=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145122del | CA2687993827 | GDF6 | c.810del (p.Pro271LeufsTer?) c.748del (p.Ala250ProfsTer?) c.411del (p.Pro138LeufsTer?) | gnomAD v4 |
8 | g.96145122C>A | CA371751788 | GDF6 | c.809G>T (p.Arg270Leu) c.747G>T (p.Ala249=) c.410G>T (p.Arg137Leu) | gnomAD v4 |
8 | g.96145122C= | CA1804261899 | GDF6 | c.809G= (p.Arg270=) c.747G= (p.Ala249=) c.410G= (p.Arg137=) | |
8 | g.96145122C>G | CA371751789 | GDF6 | c.809G>C (p.Arg270Pro) c.747G>C (p.Ala249=) c.410G>C (p.Arg137Pro) | |
8 | g.96145122C>T | CA4815407 | GDF6 | c.809G>A (p.Arg270Gln) c.747G>A (p.Ala249=) c.410G>A (p.Arg137Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145123G>A | CA181485034 | GDF6 | c.808C>T (p.Arg270Trp) c.746C>T (p.Ala249Val) c.409C>T (p.Arg137Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145123G>C | CA371751790 | GDF6 | c.808C>G (p.Arg270Gly) c.746C>G (p.Ala249Gly) c.409C>G (p.Arg137Gly) | gnomAD v4 |
8 | g.96145123G= | CA1804261901 | GDF6 | c.808C= (p.Arg270=) c.746C= (p.Ala249=) c.409C= (p.Arg137=) | |
8 | g.96145123G>T | CA371751791 | GDF6 | c.808C>A (p.Arg270=) c.746C>A (p.Ala249Glu) c.409C>A (p.Arg137=) | gnomAD v4 |
8 | g.96145124C>A | CA371751792 | GDF6 | c.807G>T (p.Val269=) c.745G>T (p.Ala249Ser) c.408G>T (p.Val136=) | dbSNP gnomAD v4 |
8 | g.96145124C>G | CA371751793 | GDF6 | c.807G>C (p.Val269=) c.745G>C (p.Ala249Pro) c.408G>C (p.Val136=) | gnomAD v4 |
8 | g.96145124C>T | CA371751794 | GDF6 | c.807G>A (p.Val269=) c.745G>A (p.Ala249Thr) c.408G>A (p.Val136=) | gnomAD v4 |
8 | g.96145125_96145126del | CA2687993831 | GDF6 | c.806_807del (p.Val269AlafsTer?) c.744_745del (p.Ala249GlyfsTer?) c.407_408del (p.Val136AlafsTer?) | gnomAD v4 |
8 | g.96145125A= | CA1804261904 | GDF6 | c.806T= (p.Val269=) c.744T= (p.Gly248=) c.407T= (p.Val136=) | |
8 | g.96145125A>C | CA371751797 | GDF6 | c.806T>G (p.Val269Gly) c.744T>G (p.Gly248=) c.407T>G (p.Val136Gly) | dbSNP gnomAD v4 |
8 | g.96145125A>G | CA371751795 | GDF6 | c.806T>C (p.Val269Ala) c.744T>C (p.Gly248=) c.407T>C (p.Val136Ala) | gnomAD v4 |
8 | g.96145125A>T | CA371751796 | GDF6 | c.806T>A (p.Val269Glu) c.744T>A (p.Gly248=) c.407T>A (p.Val136Glu) | |
8 | g.96145126C>A | CA371751798 | GDF6 | c.805G>T (p.Val269Leu) c.743G>T (p.Gly248Val) c.406G>T (p.Val136Leu) | gnomAD v4 |
8 | g.96145126C>G | CA371751799 | GDF6 | c.805G>C (p.Val269Leu) c.743G>C (p.Gly248Ala) c.406G>C (p.Val136Leu) | gnomAD v4 |
8 | g.96145126C>T | CA371751800 | GDF6 | c.805G>A (p.Val269Met) c.743G>A (p.Gly248Asp) c.406G>A (p.Val136Met) | gnomAD v4 |
8 | g.96145128del | CA2717941194 | GDF6 | c.805del (p.Val269CysfsTer?) c.743del (p.Gly248ValfsTer?) c.406del (p.Val136CysfsTer?) | dbSNP |
8 | g.96145127C>A | CA371751801 | GDF6 | c.804G>T (p.Arg268Ser) c.742G>T (p.Gly248Cys) c.405G>T (p.Arg135Ser) | gnomAD v4 |
8 | g.96145127C>G | CA371751802 | GDF6 | c.804G>C (p.Arg268Ser) c.742G>C (p.Gly248Arg) c.405G>C (p.Arg135Ser) | |
8 | g.96145127C>T | CA371751803 | GDF6 | c.804G>A (p.Arg268=) c.742G>A (p.Gly248Ser) c.405G>A (p.Arg135=) | gnomAD v4 COSMIC |
8 | g.96145128C>A | CA181485035 | GDF6 | c.803G>T (p.Arg268Met) c.741G>T (p.Glu247Asp) c.404G>T (p.Arg135Met) | dbSNP gnomAD v4 |
8 | g.96145128C= | CA1804261907 | GDF6 | c.803G= (p.Arg268=) c.741G= (p.Glu247=) c.404G= (p.Arg135=) | |
8 | g.96145128C>G | CA371751804 | GDF6 | c.803G>C (p.Arg268Thr) c.741G>C (p.Glu247Asp) c.404G>C (p.Arg135Thr) | |
8 | g.96145128C>T | CA371751805 | GDF6 | c.803G>A (p.Arg268Lys) c.741G>A (p.Glu247=) c.404G>A (p.Arg135Lys) | gnomAD v4 |
8 | g.96145129T>A | CA371751806 | GDF6 | c.802A>T (p.Arg268Trp) c.740A>T (p.Glu247Val) c.403A>T (p.Arg135Trp) | gnomAD v4 |
8 | g.96145129T>C | CA371751807 | GDF6 | c.802A>G (p.Arg268Gly) c.740A>G (p.Glu247Gly) c.403A>G (p.Arg135Gly) | gnomAD v4 |
8 | g.96145129T>G | CA371751808 | GDF6 | c.802A>C (p.Arg268=) c.740A>C (p.Glu247Ala) c.403A>C (p.Arg135=) | gnomAD v4 |
8 | g.96145130C>A | CA371751810 | GDF6 | c.801G>T (p.Arg267=) c.739G>T (p.Glu247Ter) c.402G>T (p.Arg134=) | gnomAD v4 |
8 | g.96145130C>G | CA371751811 | GDF6 | c.801G>C (p.Arg267=) c.739G>C (p.Glu247Gln) c.402G>C (p.Arg134=) | gnomAD v4 COSMIC |
8 | g.96145130C>T | CA371751809 | GDF6 | c.801G>A (p.Arg267=) c.739G>A (p.Glu247Lys) c.402G>A (p.Arg134=) | gnomAD v4 |
8 | g.96145131C>A | CA181485036 | GDF6 | c.800G>T (p.Arg267Leu) c.738G>T (p.Pro246=) c.401G>T (p.Arg134Leu) | dbSNP gnomAD v4 |
8 | g.96145131C= | CA1804261912 | GDF6 | c.800G= (p.Arg267=) c.738G= (p.Pro246=) c.401G= (p.Arg134=) | |
8 | g.96145131C>G | CA371751813 | GDF6 | c.800G>C (p.Arg267Pro) c.738G>C (p.Pro246=) c.401G>C (p.Arg134Pro) | |
8 | g.96145131C>T | CA371751812 | GDF6 | c.800G>A (p.Arg267Gln) c.738G>A (p.Pro246=) c.401G>A (p.Arg134Gln) | dbSNP gnomAD v4 COSMIC |
8 | g.96145132G>A | CA371751814 | GDF6 | c.799C>T (p.Arg267Trp) c.737C>T (p.Pro246Leu) c.400C>T (p.Arg134Trp) | gnomAD v4 |
8 | g.96145132G>C | CA371751816 | GDF6 | c.799C>G (p.Arg267Gly) c.737C>G (p.Pro246Arg) c.400C>G (p.Arg134Gly) | |
8 | g.96145132G>T | CA371751815 | GDF6 | c.799C>A (p.Arg267=) c.737C>A (p.Pro246Gln) c.400C>A (p.Arg134=) | gnomAD v4 |
8 | g.96145133del | CA2687993833 | GDF6 | c.799del (p.Arg267GlyfsTer?) c.737del (p.Pro246ArgfsTer?) c.400del (p.Arg134GlyfsTer?) | gnomAD v4 |
8 | g.96145133G>A | CA371751817 | GDF6 | c.798C>T (p.Gly266=) c.736C>T (p.Pro246Ser) c.399C>T (p.Gly133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145133G>C | CA371751819 | GDF6 | c.798C>G (p.Gly266=) c.736C>G (p.Pro246Ala) c.399C>G (p.Gly133=) | |
8 | g.96145133G= | CA1804261916 | GDF6 | c.798C= (p.Gly266=) c.736C= (p.Pro246=) c.399C= (p.Gly133=) | |
8 | g.96145133G>T | CA371751818 | GDF6 | c.798C>A (p.Gly266=) c.736C>A (p.Pro246Thr) c.399C>A (p.Gly133=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145134C>A | CA371751820 | GDF6 | c.797G>T (p.Gly266Val) c.735G>T (p.Arg245=) c.398G>T (p.Gly133Val) | gnomAD v4 |
8 | g.96145134C= | CA1804261928 | GDF6 | c.797G= (p.Gly266=) c.735G= (p.Arg245=) c.398G= (p.Gly133=) | |
8 | g.96145134C>G | CA371751821 | GDF6 | c.797G>C (p.Gly266Ala) c.735G>C (p.Arg245=) c.398G>C (p.Gly133Ala) | dbSNP |
8 | g.96145134C>T | CA371751822 | GDF6 | c.797G>A (p.Gly266Asp) c.735G>A (p.Arg245=) c.398G>A (p.Gly133Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145135C>A | CA371751823 | GDF6 | c.796G>T (p.Gly266Cys) c.734G>T (p.Arg245Leu) c.397G>T (p.Gly133Cys) | gnomAD v4 |
8 | g.96145135C= | CA1804261931 | GDF6 | c.796G= (p.Gly266=) c.734G= (p.Arg245=) c.397G= (p.Gly133=) | |
8 | g.96145135C>G | CA371751824 | GDF6 | c.796G>C (p.Gly266Arg) c.734G>C (p.Arg245Pro) c.397G>C (p.Gly133Arg) | |
8 | g.96145135C>T | CA371751825 | GDF6 | c.796G>A (p.Gly266Ser) c.734G>A (p.Arg245Gln) c.397G>A (p.Gly133Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145136G>A | CA371751826 | GDF6 | c.795C>T (p.Phe265=) c.733C>T (p.Arg245Trp) c.396C>T (p.Phe132=) | gnomAD v4 |
8 | g.96145136G>C | CA371751827 | GDF6 | c.795C>G (p.Phe265Leu) c.733C>G (p.Arg245Gly) c.396C>G (p.Phe132Leu) | |
8 | g.96145136G>T | CA371751828 | GDF6 | c.795C>A (p.Phe265Leu) c.733C>A (p.Arg245=) c.396C>A (p.Phe132Leu) | gnomAD v4 |
8 | g.96145137A>C | CA371751829 | GDF6 | c.794T>G (p.Phe265Cys) c.732T>G (p.Leu244=) c.395T>G (p.Phe132Cys) | |
8 | g.96145137A>G | CA371751830 | GDF6 | c.794T>C (p.Phe265Ser) c.732T>C (p.Leu244=) c.395T>C (p.Phe132Ser) | gnomAD v4 |
8 | g.96145137A>T | CA371751831 | GDF6 | c.794T>A (p.Phe265Tyr) c.732T>A (p.Leu244=) c.395T>A (p.Phe132Tyr) | |
8 | g.96145138A>C | CA371751832 | GDF6 | c.793T>G (p.Phe265Val) c.731T>G (p.Leu244Arg) c.394T>G (p.Phe132Val) | |
8 | g.96145138A>G | CA371751834 | GDF6 | c.793T>C (p.Phe265Leu) c.731T>C (p.Leu244Pro) c.394T>C (p.Phe132Leu) | gnomAD v4 |
8 | g.96145138A>T | CA371751833 | GDF6 | c.793T>A (p.Phe265Ile) c.731T>A (p.Leu244His) c.394T>A (p.Phe132Ile) | gnomAD v4 |
8 | g.96145139G>A | CA371751835 | GDF6 | c.792C>T (p.Gly264=) c.730C>T (p.Leu244Phe) c.393C>T (p.Gly131=) | gnomAD v4 |
8 | g.96145139G>C | CA371751836 | GDF6 | c.792C>G (p.Gly264=) c.730C>G (p.Leu244Val) c.393C>G (p.Gly131=) | |
8 | g.96145139G>T | CA371751837 | GDF6 | c.792C>A (p.Gly264=) c.730C>A (p.Leu244Ile) c.393C>A (p.Gly131=) | gnomAD v4 |
8 | g.96145140C>A | CA371751838 | GDF6 | c.791G>T (p.Gly264Val) c.729G>T (p.Gly243=) c.392G>T (p.Gly131Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145140C= | CA1804261937 | GDF6 | c.791G= (p.Gly264=) c.729G= (p.Gly243=) c.392G= (p.Gly131=) | |
8 | g.96145140C>G | CA371751839 | GDF6 | c.791G>C (p.Gly264Ala) c.729G>C (p.Gly243=) c.392G>C (p.Gly131Ala) | |
8 | g.96145140C>T | CA371751840 | GDF6 | c.791G>A (p.Gly264Asp) c.729G>A (p.Gly243=) c.392G>A (p.Gly131Asp) | gnomAD v4 |
8 | g.96145142del | CA2687993834 | GDF6 | c.791del (p.Gly264AlafsTer?) c.729del (p.Leu244PhefsTer?) c.392del (p.Gly131AlafsTer?) | gnomAD v4 |
8 | g.96145141C>A | CA371751841 | GDF6 | c.790G>T (p.Gly264Cys) c.728G>T (p.Gly243Val) c.391G>T (p.Gly131Cys) | gnomAD v4 COSMIC |
8 | g.96145141C= | CA1804261942 | GDF6 | c.790G= (p.Gly264=) c.728G= (p.Gly243=) c.391G= (p.Gly131=) | |
8 | g.96145141C>G | CA371751842 | GDF6 | c.790G>C (p.Gly264Arg) c.728G>C (p.Gly243Ala) c.391G>C (p.Gly131Arg) | |
8 | g.96145141C>T | CA371751843 | GDF6 | c.790G>A (p.Gly264Ser) c.728G>A (p.Gly243Glu) c.391G>A (p.Gly131Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145142C>A | CA371751845 | GDF6 | c.789G>T (p.Leu263=) c.727G>T (p.Gly243Trp) c.390G>T (p.Leu130=) | gnomAD v4 |
8 | g.96145142C>G | CA371751846 | GDF6 | c.789G>C (p.Leu263=) c.727G>C (p.Gly243Arg) c.390G>C (p.Leu130=) | |
8 | g.96145142C>T | CA371751844 | GDF6 | c.789G>A (p.Leu263=) c.727G>A (p.Gly243Arg) c.390G>A (p.Leu130=) | gnomAD v4 |
8 | g.96145143A>C | CA371751847 | GDF6 | c.788T>G (p.Leu263Arg) c.726T>G (p.Ser242=) c.389T>G (p.Leu130Arg) | |
8 | g.96145143A>G | CA371751848 | GDF6 | c.788T>C (p.Leu263Pro) c.726T>C (p.Ser242=) c.389T>C (p.Leu130Pro) | dbSNP gnomAD v4 |
8 | g.96145143A>T | CA371751849 | GDF6 | c.788T>A (p.Leu263Gln) c.726T>A (p.Ser242=) c.389T>A (p.Leu130Gln) | gnomAD v4 |
8 | g.96145144G>A | CA371751850 | GDF6 | c.787C>T (p.Leu263=) c.725C>T (p.Ser242Phe) c.388C>T (p.Leu130=) | dbSNP gnomAD v4 |
8 | g.96145144G>C | CA371751851 | GDF6 | c.787C>G (p.Leu263Val) c.725C>G (p.Ser242Cys) c.388C>G (p.Leu130Val) | gnomAD v4 |
8 | g.96145144G>T | CA371751852 | GDF6 | c.787C>A (p.Leu263Met) c.725C>A (p.Ser242Tyr) c.388C>A (p.Leu130Met) | gnomAD v4 |
8 | g.96145145A>C | CA371751853 | GDF6 | c.786T>G (p.Ser262Arg) c.724T>G (p.Ser242Ala) c.387T>G (p.Ser129Arg) | |
8 | g.96145145A>G | CA371751854 | GDF6 | c.786T>C (p.Ser262=) c.724T>C (p.Ser242Pro) c.387T>C (p.Ser129=) | gnomAD v4 |
8 | g.96145145A>T | CA371751855 | GDF6 | c.786T>A (p.Ser262Arg) c.724T>A (p.Ser242Thr) c.387T>A (p.Ser129Arg) | |
8 | g.96145146C>A | CA371751856 | GDF6 | c.785G>T (p.Ser262Ile) c.723G>T (p.Glu241Asp) c.386G>T (p.Ser129Ile) | gnomAD v4 |
8 | g.96145146C= | CA1804261948 | GDF6 | c.785G= (p.Ser262=) c.723G= (p.Glu241=) c.386G= (p.Ser129=) | |
8 | g.96145146C>G | CA371751857 | GDF6 | c.785G>C (p.Ser262Thr) c.723G>C (p.Glu241Asp) c.386G>C (p.Ser129Thr) | dbSNP gnomAD v2 |
8 | g.96145146C>T | CA4815408 | GDF6 | c.785G>A (p.Ser262Asn) c.723G>A (p.Glu241=) c.386G>A (p.Ser129Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145147T>A | CA371751860 | GDF6 | c.784A>T (p.Ser262Cys) c.722A>T (p.Glu241Val) c.385A>T (p.Ser129Cys) | gnomAD v4 |
8 | g.96145147T>C | CA371751858 | GDF6 | c.784A>G (p.Ser262Gly) c.722A>G (p.Glu241Gly) c.385A>G (p.Ser129Gly) | gnomAD v4 |
8 | g.96145147T>G | CA371751859 | GDF6 | c.784A>C (p.Ser262Arg) c.722A>C (p.Glu241Ala) c.385A>C (p.Ser129Arg) | |
8 | g.96145148C>A | CA371751861 | GDF6 | c.783G>T (p.Arg261=) c.721G>T (p.Glu241Ter) c.384G>T (p.Arg128=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145148C= | CA1804261959 | GDF6 | c.783G= (p.Arg261=) c.721G= (p.Glu241=) c.384G= (p.Arg128=) | |
8 | g.96145148C>G | CA371751862 | GDF6 | c.783G>C (p.Arg261=) c.721G>C (p.Glu241Gln) c.384G>C (p.Arg128=) | dbSNP gnomAD v4 |
8 | g.96145148C>T | CA371751863 | GDF6 | c.783G>A (p.Arg261=) c.721G>A (p.Glu241Lys) c.384G>A (p.Arg128=) | gnomAD v4 |
8 | g.96145149C>A | CA371751864 | GDF6 | c.782G>T (p.Arg261Leu) c.720G>T (p.Ala240=) c.383G>T (p.Arg128Leu) | gnomAD v4 |
8 | g.96145149C>G | CA371751865 | GDF6 | c.782G>C (p.Arg261Pro) c.720G>C (p.Ala240=) c.383G>C (p.Arg128Pro) | |
8 | g.96145149C>T | CA371751866 | GDF6 | c.782G>A (p.Arg261Gln) c.720G>A (p.Ala240=) c.383G>A (p.Arg128Gln) | gnomAD v4 COSMIC |
8 | g.96145150G>A | CA371751867 | GDF6 | c.781C>T (p.Arg261Trp) c.719C>T (p.Ala240Val) c.382C>T (p.Arg128Trp) | gnomAD v4 |
8 | g.96145150G>C | CA371751868 | GDF6 | c.781C>G (p.Arg261Gly) c.719C>G (p.Ala240Gly) c.382C>G (p.Arg128Gly) | |
8 | g.96145150G>T | CA371751869 | GDF6 | c.781C>A (p.Arg261=) c.719C>A (p.Ala240Glu) c.382C>A (p.Arg128=) | gnomAD v4 COSMIC |
8 | g.96145151C>A | CA371751870 | GDF6 | c.780G>T (p.Leu260=) c.718G>T (p.Ala240Ser) c.381G>T (p.Leu127=) | gnomAD v4 |
8 | g.96145151C>G | CA371751871 | GDF6 | c.780G>C (p.Leu260=) c.718G>C (p.Ala240Pro) c.381G>C (p.Leu127=) | |
8 | g.96145151C>T | CA371751872 | GDF6 | c.780G>A (p.Leu260=) c.718G>A (p.Ala240Thr) c.381G>A (p.Leu127=) | gnomAD v4 |
8 | g.96145152A= | CA1804261967 | GDF6 | c.779T= (p.Leu260=) c.717T= (p.Pro239=) c.380T= (p.Leu127=) | |
8 | g.96145152A>C | CA371751875 | GDF6 | c.779T>G (p.Leu260Arg) c.717T>G (p.Pro239=) c.380T>G (p.Leu127Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145152A>G | CA371751874 | GDF6 | c.779T>C (p.Leu260Pro) c.717T>C (p.Pro239=) c.380T>C (p.Leu127Pro) | gnomAD v4 |
8 | g.96145152A>T | CA371751873 | GDF6 | c.779T>A (p.Leu260Gln) c.717T>A (p.Pro239=) c.380T>A (p.Leu127Gln) | gnomAD v4 |
8 | g.96145153G>A | CA371751876 | GDF6 | c.778C>T (p.Leu260=) c.716C>T (p.Pro239Leu) c.379C>T (p.Leu127=) | gnomAD v4 |
8 | g.96145153G>C | CA371751877 | GDF6 | c.778C>G (p.Leu260Val) c.716C>G (p.Pro239Arg) c.379C>G (p.Leu127Val) | |
8 | g.96145153G>T | CA371751878 | GDF6 | c.778C>A (p.Leu260Met) c.716C>A (p.Pro239His) c.379C>A (p.Leu127Met) | gnomAD v4 |
8 | g.96145154G>A | CA371751879 | GDF6 | c.777C>T (p.Asp259=) c.715C>T (p.Pro239Ser) c.378C>T (p.Asp126=) | gnomAD v4 |
8 | g.96145154G>C | CA371751880 | GDF6 | c.777C>G (p.Asp259Glu) c.715C>G (p.Pro239Ala) c.378C>G (p.Asp126Glu) | |
8 | g.96145154G>T | CA371751881 | GDF6 | c.777C>A (p.Asp259Glu) c.715C>A (p.Pro239Thr) c.378C>A (p.Asp126Glu) | gnomAD v4 |
8 | g.96145155T>A | CA371751884 | GDF6 | c.776A>T (p.Asp259Val) c.714A>T (p.Gly238=) c.377A>T (p.Asp126Val) | |
8 | g.96145155T>C | CA371751883 | GDF6 | c.776A>G (p.Asp259Gly) c.714A>G (p.Gly238=) c.377A>G (p.Asp126Gly) | gnomAD v4 |
8 | g.96145155T>G | CA371751882 | GDF6 | c.776A>C (p.Asp259Ala) c.714A>C (p.Gly238=) c.377A>C (p.Asp126Ala) | |
8 | g.96145156C>A | CA371751885 | GDF6 | c.775G>T (p.Asp259Tyr) c.713G>T (p.Gly238Val) c.376G>T (p.Asp126Tyr) | gnomAD v4 |
8 | g.96145156C>G | CA371751886 | GDF6 | c.775G>C (p.Asp259His) c.713G>C (p.Gly238Ala) c.376G>C (p.Asp126His) | |
8 | g.96145156C>T | CA371751887 | GDF6 | c.775G>A (p.Asp259Asn) c.713G>A (p.Gly238Glu) c.376G>A (p.Asp126Asn) | gnomAD v4 |
8 | g.96145157C>A | CA4815409 | GDF6 | c.774G>T (p.Pro258=) c.712G>T (p.Gly238Ter) c.375G>T (p.Pro125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145157C= | CA1804261973 | GDF6 | c.774G= (p.Pro258=) c.712G= (p.Gly238=) c.375G= (p.Pro125=) | |
8 | g.96145157C>G | CA371751888 | GDF6 | c.774G>C (p.Pro258=) c.712G>C (p.Gly238Arg) c.375G>C (p.Pro125=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145157C>T | CA371751889 | GDF6 | c.774G>A (p.Pro258=) c.712G>A (p.Gly238Arg) c.375G>A (p.Pro125=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145158G>A | CA371751890 | GDF6 | c.773C>T (p.Pro258Leu) c.711C>T (p.Pro237=) c.374C>T (p.Pro125Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145158G>C | CA371751892 | GDF6 | c.773C>G (p.Pro258Arg) c.711C>G (p.Pro237=) c.374C>G (p.Pro125Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145158G= | CA1804261977 | GDF6 | c.773C= (p.Pro258=) c.711C= (p.Pro237=) c.374C= (p.Pro125=) | |
8 | g.96145158G>T | CA371751891 | GDF6 | c.773C>A (p.Pro258Gln) c.711C>A (p.Pro237=) c.374C>A (p.Pro125Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145162dup | CA2687993835 | GDF6 | c.773dup (p.Asp259GlyfsTer?) c.711dup (p.Gly238ArgfsTer?) c.374dup (p.Asp126GlyfsTer?) | gnomAD v4 |
8 | g.96145162del | CA583845613 | GDF6 | c.773del (p.Pro258ArgfsTer?) c.711del (p.Gly238AspfsTer?) c.374del (p.Pro125ArgfsTer?) | gnomAD v2 gnomAD v4 |
8 | g.96145159G>A | CA371751893 | GDF6 | c.772C>T (p.Pro258Ser) c.710C>T (p.Pro237Leu) c.373C>T (p.Pro125Ser) | gnomAD v4 |
8 | g.96145159G>C | CA371751894 | GDF6 | c.772C>G (p.Pro258Ala) c.710C>G (p.Pro237Arg) c.373C>G (p.Pro125Ala) | |
8 | g.96145159G>T | CA371751895 | GDF6 | c.772C>A (p.Pro258Thr) c.710C>A (p.Pro237His) c.373C>A (p.Pro125Thr) | gnomAD v4 COSMIC |
8 | g.96145160G>A | CA371751896 | GDF6 | c.771C>T (p.Pro257=) c.709C>T (p.Pro237Ser) c.372C>T (p.Pro124=) | gnomAD v4 |
8 | g.96145160G>C | CA371751897 | GDF6 | c.771C>G (p.Pro257=) c.709C>G (p.Pro237Ala) c.372C>G (p.Pro124=) | gnomAD v4 |
8 | g.96145160G>T | CA371751898 | GDF6 | c.771C>A (p.Pro257=) c.709C>A (p.Pro237Thr) c.372C>A (p.Pro124=) | gnomAD v4 |
8 | g.96145161G>A | CA10631741 | GDF6 | c.770C>T (p.Pro257Leu) c.708C>T (p.Ala236=) c.371C>T (p.Pro124Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145161G>C | CA371751899 | GDF6 | c.770C>G (p.Pro257Arg) c.708C>G (p.Ala236=) c.371C>G (p.Pro124Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145161G= | CA1804261990 | GDF6 | c.770C= (p.Pro257=) c.708C= (p.Ala236=) c.371C= (p.Pro124=) | |
8 | g.96145161G>T | CA371751900 | GDF6 | c.770C>A (p.Pro257His) c.708C>A (p.Ala236=) c.371C>A (p.Pro124His) | gnomAD v4 |
8 | g.96145162G>A | CA4815410 | GDF6 | c.769C>T (p.Pro257Ser) c.707C>T (p.Ala236Val) c.370C>T (p.Pro124Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145162G>C | CA371751901 | GDF6 | c.769C>G (p.Pro257Ala) c.707C>G (p.Ala236Gly) c.370C>G (p.Pro124Ala) | gnomAD v4 |
8 | g.96145162G= | CA1804262005 | GDF6 | c.769C= (p.Pro257=) c.707C= (p.Ala236=) c.370C= (p.Pro124=) | |
8 | g.96145162G>T | CA371751902 | GDF6 | c.769C>A (p.Pro257Thr) c.707C>A (p.Ala236Asp) c.370C>A (p.Pro124Thr) | gnomAD v4 |
8 | g.96145163C>A | CA371751903 | GDF6 | c.768G>T (p.Pro256=) c.707-1G>T (n.707-1G>T) c.369G>T (p.Pro123=) | gnomAD v4 |
8 | g.96145163C= | CA1804262014 | GDF6 | c.768G= (p.Pro256=) c.707-1G= (n.707-1G=) c.369G= (p.Pro123=) | |
8 | g.96145163C>G | CA371751905 | GDF6 | c.768G>C (p.Pro256=) c.707-1G>C (n.707-1G>C) c.369G>C (p.Pro123=) | dbSNP gnomAD v4 |
8 | g.96145163C>T | CA371751904 | GDF6 | c.768G>A (p.Pro256=) c.707-1G>A (n.707-1G>A) c.369G>A (p.Pro123=) | gnomAD v4 |
8 | g.96145164G>A | CA371751906 | GDF6 | c.767C>T (p.Pro256Leu) c.707-2C>T (n.707-2C>T) c.368C>T (p.Pro123Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.96145164G>C | CA371751907 | GDF6 | c.767C>G (p.Pro256Arg) c.707-2C>G (n.707-2C>G) c.368C>G (p.Pro123Arg) | gnomAD v4 |
8 | g.96145164G= | CA1804262016 | GDF6 | c.767C= (p.Pro256=) c.707-2C= (n.707-2C=) c.368C= (p.Pro123=) | |
8 | g.96145164G>T | CA371751908 | GDF6 | c.767C>A (p.Pro256Gln) c.707-2C>A (n.707-2C>A) c.368C>A (p.Pro123Gln) | gnomAD v4 |
8 | g.96145165G>A | CA371751909 | GDF6 | c.766C>T (p.Pro256Ser) c.707-3C>T (n.707-3C>T) c.367C>T (p.Pro123Ser) | gnomAD v4 |
8 | g.96145165G>C | CA371751910 | GDF6 | c.766C>G (p.Pro256Ala) c.707-3C>G (n.707-3C>G) c.367C>G (p.Pro123Ala) | dbSNP gnomAD v4 |
8 | g.96145165G= | CA1804262019 | GDF6 | c.766C= (p.Pro256=) c.707-3C= (n.707-3C=) c.367C= (p.Pro123=) | |
8 | g.96145165G>T | CA371751911 | GDF6 | c.766C>A (p.Pro256Thr) c.707-3C>A (n.707-3C>A) c.367C>A (p.Pro123Thr) | gnomAD v4 |
8 | g.96145166C>A | CA181485037 | GDF6 | c.765G>T (p.Pro255=) c.707-4G>T (n.707-4G>T) c.366G>T (p.Pro122=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145166C= | CA1804262020 | GDF6 | c.765G= (p.Pro255=) c.707-4G= (n.707-4G=) c.366G= (p.Pro122=) | |
8 | g.96145166C>G | CA462454570 | GDF6 | c.765G>C (p.Pro255=) c.707-4G>C (n.707-4G>C) c.366G>C (p.Pro122=) | |
8 | g.96145166C>T | CA462454572 | GDF6 | c.765G>A (p.Pro255=) c.707-4G>A (n.707-4G>A) c.366G>A (p.Pro122=) | gnomAD v4 |
8 | g.96145167G>A | CA4815411 | GDF6 | c.764C>T (p.Pro255Leu) c.707-5C>T (n.707-5C>T) c.365C>T (p.Pro122Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.96145167G>C | CA371751912 | GDF6 | c.764C>G (p.Pro255Arg) c.707-5C>G (n.707-5C>G) c.365C>G (p.Pro122Arg) | |
8 | g.96145167G= | CA1804262025 | GDF6 | c.764C= (p.Pro255=) c.707-5C= (n.707-5C=) c.365C= (p.Pro122=) | |
8 | g.96145167G>T | CA371751913 | GDF6 | c.764C>A (p.Pro255Gln) c.707-5C>A (n.707-5C>A) c.365C>A (p.Pro122Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145168G>A | CA371751914 | GDF6 | c.763C>T (p.Pro255Ser) c.707-6C>T (n.707-6C>T) c.364C>T (p.Pro122Ser) | gnomAD v4 |
8 | g.96145168G>C | CA371751915 | GDF6 | c.763C>G (p.Pro255Ala) c.707-6C>G (n.707-6C>G) c.364C>G (p.Pro122Ala) | |
8 | g.96145168G>T | CA371751916 | GDF6 | c.763C>A (p.Pro255Thr) c.707-6C>A (n.707-6C>A) c.364C>A (p.Pro122Thr) | gnomAD v4 |
8 | g.96145169T>A | CA371751918 | GDF6 | c.762A>T (p.Gln254His) c.707-7A>T (n.707-7A>T) c.363A>T (p.Gln121His) | |
8 | g.96145169T>C | CA462454573 | GDF6 | c.762A>G (p.Gln254=) c.707-7A>G (n.707-7A>G) c.363A>G (p.Gln121=) | |
8 | g.96145169T>G | CA371751917 | GDF6 | c.762A>C (p.Gln254His) c.707-7A>C (n.707-7A>C) c.363A>C (p.Gln121His) | dbSNP |
8 | g.96145170T>A | CA371751919 | GDF6 | c.761A>T (p.Gln254Leu) c.707-8A>T (n.707-8A>T) c.362A>T (p.Gln121Leu) | |
8 | g.96145170T>C | CA371751920 | GDF6 | c.761A>G (p.Gln254Arg) c.707-8A>G (n.707-8A>G) c.362A>G (p.Gln121Arg) | gnomAD v4 |
8 | g.96145170T>G | CA371751921 | GDF6 | c.761A>C (p.Gln254Pro) c.707-8A>C (n.707-8A>C) c.362A>C (p.Gln121Pro) | |
8 | g.96145171G>A | CA371751922 | GDF6 | c.760C>T (p.Gln254Ter) c.707-9C>T (n.707-9C>T) c.361C>T (p.Gln121Ter) | gnomAD v4 |
8 | g.96145171G>C | CA371751923 | GDF6 | c.760C>G (p.Gln254Glu) c.707-9C>G (n.707-9C>G) c.361C>G (p.Gln121Glu) | |
8 | g.96145171G>T | CA371751924 | GDF6 | c.760C>A (p.Gln254Lys) c.707-9C>A (n.707-9C>A) c.361C>A (p.Gln121Lys) | gnomAD v4 |
8 | g.96145172C>A | CA371751925 | GDF6 | c.759G>T (p.Gln253His) c.707-10G>T (n.707-10G>T) c.360G>T (p.Gln120His) | gnomAD v4 |
8 | g.96145172C= | CA1804262034 | GDF6 | c.759G= (p.Gln253=) c.707-10G= (n.707-10G=) c.360G= (p.Gln120=) | |
8 | g.96145172C>G | CA371751926 | GDF6 | c.759G>C (p.Gln253His) c.707-10G>C (n.707-10G>C) c.360G>C (p.Gln120His) | |
8 | g.96145172C>T | CA4815412 | GDF6 | c.759G>A (p.Gln253=) c.707-10G>A (n.707-10G>A) c.360G>A (p.Gln120=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145173T>A | CA119559 | GDF6 | c.758A>T (p.Gln253Leu) c.707-11A>T (n.707-11A>T) c.359A>T (p.Gln120Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145173T>C | CA371751927 | GDF6 | c.758A>G (p.Gln253Arg) c.707-11A>G (n.707-11A>G) c.359A>G (p.Gln120Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145173T>G | CA371751928 | GDF6 | c.758A>C (p.Gln253Pro) c.707-11A>C (n.707-11A>C) c.359A>C (p.Gln120Pro) | gnomAD v4 |
8 | g.96145173T= | CA1804262041 | GDF6 | c.758A= (p.Gln253=) c.707-11A= (n.707-11A=) c.359A= (p.Gln120=) | |
8 | g.96145174G>A | CA371751931 | GDF6 | c.757C>T (p.Gln253Ter) c.707-12C>T (n.707-12C>T) c.358C>T (p.Gln120Ter) | gnomAD v4 |
8 | g.96145174G>C | CA371751930 | GDF6 | c.757C>G (p.Gln253Glu) c.707-12C>G (n.707-12C>G) c.358C>G (p.Gln120Glu) | |
8 | g.96145174G>T | CA371751929 | GDF6 | c.757C>A (p.Gln253Lys) c.707-12C>A (n.707-12C>A) c.358C>A (p.Gln120Lys) | gnomAD v4 |
8 | g.96145177dup | CA2840294837 | GDF6 | c.757dup (p.Gln253ProfsTer?) c.707-12dup (n.707-12dup) c.358dup (p.Gln120ProfsTer?) | |
8 | g.96145177del | CA2687993836 | GDF6 | c.757del (p.Gln253SerfsTer?) c.707-12del (n.707-12del) c.358del (p.Gln120SerfsTer?) | gnomAD v4 |
8 | g.96145175G>A | CA4815413 | GDF6 | c.756C>T (p.Pro252=) c.707-13C>T (n.707-13C>T) c.357C>T (p.Pro119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145175G>C | CA462454582 | GDF6 | c.756C>G (p.Pro252=) c.707-13C>G (n.707-13C>G) c.357C>G (p.Pro119=) | |
8 | g.96145175G= | CA1804262052 | GDF6 | c.756C= (p.Pro252=) c.707-13C= (n.707-13C=) c.357C= (p.Pro119=) | |
8 | g.96145175G>T | CA462454583 | GDF6 | c.756C>A (p.Pro252=) c.707-13C>A (n.707-13C>A) c.357C>A (p.Pro119=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145176G>A | CA371751933 | GDF6 | c.755C>T (p.Pro252Leu) c.707-14C>T (n.707-14C>T) c.356C>T (p.Pro119Leu) | gnomAD v4 |
8 | g.96145176G>C | CA371751932 | GDF6 | c.755C>G (p.Pro252Arg) c.707-14C>G (n.707-14C>G) c.356C>G (p.Pro119Arg) | ClinVar |
8 | g.96145176G>T | CA371751934 | GDF6 | c.755C>A (p.Pro252His) c.707-14C>A (n.707-14C>A) c.356C>A (p.Pro119His) | gnomAD v4 |
8 | g.96145177G>A | CA371751935 | GDF6 | c.754C>T (p.Pro252Ser) c.707-15C>T (n.707-15C>T) c.355C>T (p.Pro119Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145177G>C | CA371751936 | GDF6 | c.754C>G (p.Pro252Ala) c.707-15C>G (n.707-15C>G) c.355C>G (p.Pro119Ala) | |
8 | g.96145177G= | CA1804262061 | GDF6 | c.754C= (p.Pro252=) c.707-15C= (n.707-15C=) c.355C= (p.Pro119=) | |
8 | g.96145177G>T | CA371751937 | GDF6 | c.754C>A (p.Pro252Thr) c.707-15C>A (n.707-15C>A) c.355C>A (p.Pro119Thr) | gnomAD v4 |
8 | g.96145178T>A | CA462454584 | GDF6 | c.753A>T (p.Gly251=) c.707-16A>T (n.707-16A>T) c.354A>T (p.Gly118=) | gnomAD v4 |
8 | g.96145178T>C | CA462454585 | GDF6 | c.753A>G (p.Gly251=) c.707-16A>G (n.707-16A>G) c.354A>G (p.Gly118=) | |
8 | g.96145178T>G | CA462454586 | GDF6 | c.753A>C (p.Gly251=) c.707-16A>C (n.707-16A>C) c.354A>C (p.Gly118=) | gnomAD v4 |
8 | g.96145179C>A | CA371751938 | GDF6 | c.752G>T (p.Gly251Val) c.707-17G>T (n.707-17G>T) c.353G>T (p.Gly118Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145179C= | CA1804262068 | GDF6 | c.752G= (p.Gly251=) c.707-17G= (n.707-17G=) c.353G= (p.Gly118=) | |
8 | g.96145179C>G | CA371751939 | GDF6 | c.752G>C (p.Gly251Ala) c.707-17G>C (n.707-17G>C) c.353G>C (p.Gly118Ala) | |
8 | g.96145179C>T | CA371751940 | GDF6 | c.752G>A (p.Gly251Glu) c.707-17G>A (n.707-17G>A) c.353G>A (p.Gly118Glu) | |
8 | g.96145182del | CA2687993837 | GDF6 | c.752del (p.Gly251AspfsTer?) c.707-17del (n.707-17del) c.353del (p.Gly118AspfsTer?) | gnomAD v4 |
8 | g.96145180C>A | CA371751941 | GDF6 | c.751G>T (p.Gly251Ter) c.707-18G>T (n.707-18G>T) c.352G>T (p.Gly118Ter) | gnomAD v4 |
8 | g.96145180C= | CA1804262076 | GDF6 | c.751G= (p.Gly251=) c.707-18G= (n.707-18G=) c.352G= (p.Gly118=) | |
8 | g.96145180C>G | CA371751942 | GDF6 | c.751G>C (p.Gly251Arg) c.707-18G>C (n.707-18G>C) c.352G>C (p.Gly118Arg) | |
8 | g.96145180C>T | CA371751943 | GDF6 | c.751G>A (p.Gly251Arg) c.707-18G>A (n.707-18G>A) c.352G>A (p.Gly118Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145181C>A | CA462454591 | GDF6 | c.750G>T (p.Arg250=) c.707-19G>T (n.707-19G>T) c.351G>T (p.Arg117=) | gnomAD v4 |
8 | g.96145181C>G | CA462454593 | GDF6 | c.750G>C (p.Arg250=) c.707-19G>C (n.707-19G>C) c.351G>C (p.Arg117=) | |
8 | g.96145181C>T | CA462454590 | GDF6 | c.750G>A (p.Arg250=) c.707-19G>A (n.707-19G>A) c.351G>A (p.Arg117=) | gnomAD v4 |
8 | g.96145181_96145183delinsCCG | CA1804262083 | GDF6 | c.748_750delinsCGG (p.Arg250=) c.707-21_707-19delinsCGG (n.707-21_707-19delinsCGG) c.349_351delinsCGG (p.Arg117=) |