Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.96144944_96144993del | CA2781376649 | GDF6 | c.946_995del (p.Pro316AlafsTer?) c.793+91_793+140del (n.793+91_793+140del) c.874+72_874+121del (n.874+72_874+121del) c.547_596del (p.Pro183AlafsTer?) | |
8 | g.96144982_96145011del | CA2687993690 | GDF6 | c.928_957del (p.Glu310_Ala319del) c.793+73_793+102del (n.793+73_793+102del) c.874+54_874+83del (n.874+54_874+83del) c.529_558del (p.Glu177_Ala186del) | gnomAD v4 |
8 | g.96144982_96145017del | CA2687993691 | GDF6 | c.921_956del (p.Gly308_Ala319del) c.793+66_793+101del (n.793+66_793+101del) c.874+47_874+82del (n.874+47_874+82del) c.522_557del (p.Gly175_Ala186del) | gnomAD v4 |
8 | g.96144983C>A | CA462454629 | GDF6 | c.948G>T (p.Pro316=) c.793+93G>T (n.793+93G>T) c.874+74G>T (n.874+74G>T) c.549G>T (p.Pro183=) | gnomAD v4 |
8 | g.96144983C= | CA1804261460 | GDF6 | c.948G= (p.Pro316=) c.793+93G= (n.793+93G=) c.874+74G= (n.874+74G=) c.549G= (p.Pro183=) | |
8 | g.96144983C>G | CA462454630 | GDF6 | c.948G>C (p.Pro316=) c.793+93G>C (n.793+93G>C) c.874+74G>C (n.874+74G>C) c.549G>C (p.Pro183=) | dbSNP gnomAD v4 |
8 | g.96144983C>T | CA4815386 | GDF6 | c.948G>A (p.Pro316=) c.793+93G>A (n.793+93G>A) c.874+74G>A (n.874+74G>A) c.549G>A (p.Pro183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144983_96144984insA | CA2781376664 | GDF6 | c.947_948insT (p.Ser317ValfsTer?) c.793+92_793+93insT (n.793+92_793+93insT) c.874+73_874+74insT (n.874+73_874+74insT) c.548_549insT (p.Ser184ValfsTer?) | |
8 | g.96144983_96144984insACA | CA2781376665 | GDF6 | c.947_948insTGT (p.Pro316_Ser317insVal) c.793+92_793+93insTGT (n.793+92_793+93insTGT) c.874+73_874+74insTGT (n.874+73_874+74insTGT) c.548_549insTGT (p.Pro183_Ser184insVal) | |
8 | g.96144984G>A | CA371751463 | GDF6 | c.947C>T (p.Pro316Leu) c.793+92C>T (n.793+92C>T) c.874+73C>T (n.874+73C>T) c.548C>T (p.Pro183Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144984G>C | CA371751464 | GDF6 | c.947C>G (p.Pro316Arg) c.793+92C>G (n.793+92C>G) c.874+73C>G (n.874+73C>G) c.548C>G (p.Pro183Arg) | gnomAD v4 |
8 | g.96144984G= | CA1804261467 | GDF6 | c.947C= (p.Pro316=) c.793+92C= (n.793+92C=) c.874+73C= (n.874+73C=) c.548C= (p.Pro183=) | |
8 | g.96144984G>T | CA371751465 | GDF6 | c.947C>A (p.Pro316Gln) c.793+92C>A (n.793+92C>A) c.874+73C>A (n.874+73C>A) c.548C>A (p.Pro183Gln) | |
8 | g.96144985G>A | CA371751466 | GDF6 | c.946C>T (p.Pro316Ser) c.793+91C>T (n.793+91C>T) c.874+72C>T (n.874+72C>T) c.547C>T (p.Pro183Ser) | gnomAD v4 |
8 | g.96144985G>C | CA371751467 | GDF6 | c.946C>G (p.Pro316Ala) c.793+91C>G (n.793+91C>G) c.874+72C>G (n.874+72C>G) c.547C>G (p.Pro183Ala) | |
8 | g.96144985G= | CA1804261477 | GDF6 | c.946C= (p.Pro316=) c.793+91C= (n.793+91C=) c.874+72C= (n.874+72C=) c.547C= (p.Pro183=) | |
8 | g.96144985G>T | CA4815387 | GDF6 | c.946C>A (p.Pro316Thr) c.793+91C>A (n.793+91C>A) c.874+72C>A (n.874+72C>A) c.547C>A (p.Pro183Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144986C>A | CA462454638 | GDF6 | c.945G>T (p.Pro315=) c.793+90G>T (n.793+90G>T) c.874+71G>T (n.874+71G>T) c.546G>T (p.Pro182=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144986C= | CA1804261480 | GDF6 | c.945G= (p.Pro315=) c.793+90G= (n.793+90G=) c.874+71G= (n.874+71G=) c.546G= (p.Pro182=) | |
8 | g.96144986C>G | CA462454640 | GDF6 | c.945G>C (p.Pro315=) c.793+90G>C (n.793+90G>C) c.874+71G>C (n.874+71G>C) c.546G>C (p.Pro182=) | |
8 | g.96144986C>T | CA462454641 | GDF6 | c.945G>A (p.Pro315=) c.793+90G>A (n.793+90G>A) c.874+71G>A (n.874+71G>A) c.546G>A (p.Pro182=) | gnomAD v4 |
8 | g.96144987G>A | CA371751468 | GDF6 | c.944C>T (p.Pro315Leu) c.793+89C>T (n.793+89C>T) c.874+70C>T (n.874+70C>T) c.545C>T (p.Pro182Leu) | gnomAD v4 |
8 | g.96144987G>C | CA371751469 | GDF6 | c.944C>G (p.Pro315Arg) c.793+89C>G (n.793+89C>G) c.874+70C>G (n.874+70C>G) c.545C>G (p.Pro182Arg) | |
8 | g.96144987G>T | CA371751470 | GDF6 | c.944C>A (p.Pro315Gln) c.793+89C>A (n.793+89C>A) c.874+70C>A (n.874+70C>A) c.545C>A (p.Pro182Gln) | gnomAD v4 |
8 | g.96144988G>A | CA371751471 | GDF6 | c.943C>T (p.Pro315Ser) c.793+88C>T (n.793+88C>T) c.874+69C>T (n.874+69C>T) c.544C>T (p.Pro182Ser) | gnomAD v4 |
8 | g.96144988G>C | CA371751472 | GDF6 | c.943C>G (p.Pro315Ala) c.793+88C>G (n.793+88C>G) c.874+69C>G (n.874+69C>G) c.544C>G (p.Pro182Ala) | |
8 | g.96144988G>T | CA371751473 | GDF6 | c.943C>A (p.Pro315Thr) c.793+88C>A (n.793+88C>A) c.874+69C>A (n.874+69C>A) c.544C>A (p.Pro182Thr) | gnomAD v4 |
8 | g.96144989C>A | CA462454642 | GDF6 | c.942G>T (p.Pro314=) c.793+87G>T (n.793+87G>T) c.874+68G>T (n.874+68G>T) c.543G>T (p.Pro181=) | gnomAD v4 |
8 | g.96144989C>G | CA462454643 | GDF6 | c.942G>C (p.Pro314=) c.793+87G>C (n.793+87G>C) c.874+68G>C (n.874+68G>C) c.543G>C (p.Pro181=) | |
8 | g.96144989C>T | CA462454644 | GDF6 | c.942G>A (p.Pro314=) c.793+87G>A (n.793+87G>A) c.874+68G>A (n.874+68G>A) c.543G>A (p.Pro181=) | ClinVar dbSNP gnomAD v4 |
8 | g.96144990G>A | CA181485029 | GDF6 | c.941C>T (p.Pro314Leu) c.793+86C>T (n.793+86C>T) c.874+67C>T (n.874+67C>T) c.542C>T (p.Pro181Leu) | dbSNP gnomAD v4 COSMIC |
8 | g.96144990G>C | CA371751474 | GDF6 | c.941C>G (p.Pro314Arg) c.793+86C>G (n.793+86C>G) c.874+67C>G (n.874+67C>G) c.542C>G (p.Pro181Arg) | |
8 | g.96144990G= | CA1804261481 | GDF6 | c.941C= (p.Pro314=) c.793+86C= (n.793+86C=) c.874+67C= (n.874+67C=) c.542C= (p.Pro181=) | |
8 | g.96144990G>T | CA371751475 | GDF6 | c.941C>A (p.Pro314Gln) c.793+86C>A (n.793+86C>A) c.874+67C>A (n.874+67C>A) c.542C>A (p.Pro181Gln) | |
8 | g.96144991G>A | CA371751476 | GDF6 | c.940C>T (p.Pro314Ser) c.793+85C>T (n.793+85C>T) c.874+66C>T (n.874+66C>T) c.541C>T (p.Pro181Ser) | gnomAD v4 |
8 | g.96144991G>C | CA371751477 | GDF6 | c.940C>G (p.Pro314Ala) c.793+85C>G (n.793+85C>G) c.874+66C>G (n.874+66C>G) c.541C>G (p.Pro181Ala) | gnomAD v4 |
8 | g.96144991G>T | CA371751478 | GDF6 | c.940C>A (p.Pro314Thr) c.793+85C>A (n.793+85C>A) c.874+66C>A (n.874+66C>A) c.541C>A (p.Pro181Thr) | gnomAD v4 |
8 | g.96144992C>A | CA371751479 | GDF6 | c.939G>T (p.Trp313Cys) c.793+84G>T (n.793+84G>T) c.874+65G>T (n.874+65G>T) c.540G>T (p.Trp180Cys) | gnomAD v4 |
8 | g.96144992C= | CA1804261483 | GDF6 | c.939G= (p.Trp313=) c.793+84G= (n.793+84G=) c.874+65G= (n.874+65G=) c.540G= (p.Trp180=) | |
8 | g.96144992C>G | CA371751480 | GDF6 | c.939G>C (p.Trp313Cys) c.793+84G>C (n.793+84G>C) c.874+65G>C (n.874+65G>C) c.540G>C (p.Trp180Cys) | |
8 | g.96144992C>T | CA371751481 | GDF6 | c.939G>A (p.Trp313Ter) c.793+84G>A (n.793+84G>A) c.874+65G>A (n.874+65G>A) c.540G>A (p.Trp180Ter) | dbSNP gnomAD v4 |
8 | g.96144993C>A | CA371751482 | GDF6 | c.938G>T (p.Trp313Leu) c.793+83G>T (n.793+83G>T) c.874+64G>T (n.874+64G>T) c.539G>T (p.Trp180Leu) | gnomAD v4 |
8 | g.96144993C>G | CA371751483 | GDF6 | c.938G>C (p.Trp313Ser) c.793+83G>C (n.793+83G>C) c.874+64G>C (n.874+64G>C) c.539G>C (p.Trp180Ser) | |
8 | g.96144993C>T | CA371751484 | GDF6 | c.938G>A (p.Trp313Ter) c.793+83G>A (n.793+83G>A) c.874+64G>A (n.874+64G>A) c.539G>A (p.Trp180Ter) | gnomAD v4 |
8 | g.96144994A>C | CA371751485 | GDF6 | c.937T>G (p.Trp313Gly) c.793+82T>G (n.793+82T>G) c.874+63T>G (n.874+63T>G) c.538T>G (p.Trp180Gly) | |
8 | g.96144994A>G | CA371751486 | GDF6 | c.937T>C (p.Trp313Arg) c.793+82T>C (n.793+82T>C) c.874+63T>C (n.874+63T>C) c.538T>C (p.Trp180Arg) | |
8 | g.96144994A>T | CA371751487 | GDF6 | c.937T>A (p.Trp313Arg) c.793+82T>A (n.793+82T>A) c.874+63T>A (n.874+63T>A) c.538T>A (p.Trp180Arg) | |
8 | g.96144995C>A | CA462454661 | GDF6 | c.936G>T (p.Ser312=) c.793+81G>T (n.793+81G>T) c.874+62G>T (n.874+62G>T) c.537G>T (p.Ser179=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96144995C= | CA1804261489 | GDF6 | c.936G= (p.Ser312=) c.793+81G= (n.793+81G=) c.874+62G= (n.874+62G=) c.537G= (p.Ser179=) | |
8 | g.96144995C>G | CA4815388 | GDF6 | c.936G>C (p.Ser312=) c.793+81G>C (n.793+81G>C) c.874+62G>C (n.874+62G>C) c.537G>C (p.Ser179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96144995C>T | CA462454660 | GDF6 | c.936G>A (p.Ser312=) c.793+81G>A (n.793+81G>A) c.874+62G>A (n.874+62G>A) c.537G>A (p.Ser179=) | gnomAD v4 |
8 | g.96144996del | CA2781376666 | GDF6 | c.935del (p.Ser312CysfsTer?) c.793+80del (n.793+80del) c.874+61del (n.874+61del) c.536del (p.Ser179CysfsTer?) | |
8 | g.96144996G>A | CA371751490 | GDF6 | c.935C>T (p.Ser312Leu) c.793+80C>T (n.793+80C>T) c.874+61C>T (n.874+61C>T) c.536C>T (p.Ser179Leu) | gnomAD v4 |
8 | g.96144996G>C | CA371751488 | GDF6 | c.935C>G (p.Ser312Trp) c.793+80C>G (n.793+80C>G) c.874+61C>G (n.874+61C>G) c.536C>G (p.Ser179Trp) | |
8 | g.96144996G>T | CA371751489 | GDF6 | c.935C>A (p.Ser312Ter) c.793+80C>A (n.793+80C>A) c.874+61C>A (n.874+61C>A) c.536C>A (p.Ser179Ter) | gnomAD v4 |
8 | g.96144997A>C | CA371751491 | GDF6 | c.934T>G (p.Ser312Ala) c.793+79T>G (n.793+79T>G) c.874+60T>G (n.874+60T>G) c.535T>G (p.Ser179Ala) | |
8 | g.96144997A>G | CA371751492 | GDF6 | c.934T>C (p.Ser312Pro) c.793+79T>C (n.793+79T>C) c.874+60T>C (n.874+60T>C) c.535T>C (p.Ser179Pro) | gnomAD v4 |
8 | g.96144997A>T | CA371751493 | GDF6 | c.934T>A (p.Ser312Thr) c.793+79T>A (n.793+79T>A) c.874+60T>A (n.874+60T>A) c.535T>A (p.Ser179Thr) | |
8 | g.96144998C>A | CA462454667 | GDF6 | c.933G>T (p.Gly311=) c.793+78G>T (n.793+78G>T) c.874+59G>T (n.874+59G>T) c.534G>T (p.Gly178=) | gnomAD v4 |
8 | g.96144998C>G | CA462454668 | GDF6 | c.933G>C (p.Gly311=) c.793+78G>C (n.793+78G>C) c.874+59G>C (n.874+59G>C) c.534G>C (p.Gly178=) | |
8 | g.96144998C>T | CA462454669 | GDF6 | c.933G>A (p.Gly311=) c.793+78G>A (n.793+78G>A) c.874+59G>A (n.874+59G>A) c.534G>A (p.Gly178=) | gnomAD v4 |
8 | g.96145001del | CA2687993693 | GDF6 | c.933del (p.Ser312ArgfsTer?) c.793+78del (n.793+78del) c.874+59del (n.874+59del) c.534del (p.Ser179ArgfsTer?) | gnomAD v4 |
8 | g.96144998_96144999insAGA | CA2781376667 | GDF6 | c.932_933insTCT (p.Gly311_Ser312insLeu) c.793+77_793+78insTCT (n.793+77_793+78insTCT) c.874+58_874+59insTCT (n.874+58_874+59insTCT) c.533_534insTCT (p.Gly178_Ser179insLeu) | |
8 | g.96144998_96144999insGATGAGCGCGAACTCGGAGTAGGCCGTCATGGCCAGA | CA2781376668 | GDF6 | c.932_933insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC (p.Ser312LeufsTer?) c.793+77_793+78insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC (n.793+77_793+78insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC) c.874+58_874+59insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC (n.874+58_874+59insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC) c.533_534insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC (p.Ser179LeufsTer?) | |
8 | g.96144999C>A | CA371751494 | GDF6 | c.932G>T (p.Gly311Val) c.793+77G>T (n.793+77G>T) c.874+58G>T (n.874+58G>T) c.533G>T (p.Gly178Val) | gnomAD v4 |
8 | g.96144999C= | CA1804261492 | GDF6 | c.932G= (p.Gly311=) c.793+77G= (n.793+77G=) c.874+58G= (n.874+58G=) c.533G= (p.Gly178=) | |
8 | g.96144999C>G | CA371751495 | GDF6 | c.932G>C (p.Gly311Ala) c.793+77G>C (n.793+77G>C) c.874+58G>C (n.874+58G>C) c.533G>C (p.Gly178Ala) | |
8 | g.96144999C>T | CA371751496 | GDF6 | c.932G>A (p.Gly311Glu) c.793+77G>A (n.793+77G>A) c.874+58G>A (n.874+58G>A) c.533G>A (p.Gly178Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145000C>A | CA371751497 | GDF6 | c.931G>T (p.Gly311Trp) c.793+76G>T (n.793+76G>T) c.874+57G>T (n.874+57G>T) c.532G>T (p.Gly178Trp) | dbSNP gnomAD v4 |
8 | g.96145000C= | CA1804261497 | GDF6 | c.931G= (p.Gly311=) c.793+76G= (n.793+76G=) c.874+57G= (n.874+57G=) c.532G= (p.Gly178=) | |
8 | g.96145000C>G | CA371751498 | GDF6 | c.931G>C (p.Gly311Arg) c.793+76G>C (n.793+76G>C) c.874+57G>C (n.874+57G>C) c.532G>C (p.Gly178Arg) | |
8 | g.96145000C>T | CA371751499 | GDF6 | c.931G>A (p.Gly311Arg) c.793+76G>A (n.793+76G>A) c.874+57G>A (n.874+57G>A) c.532G>A (p.Gly178Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.96145001C>A | CA371751500 | GDF6 | c.930G>T (p.Glu310Asp) c.793+75G>T (n.793+75G>T) c.874+56G>T (n.874+56G>T) c.531G>T (p.Glu177Asp) | gnomAD v4 |
8 | g.96145001C>G | CA371751501 | GDF6 | c.930G>C (p.Glu310Asp) c.793+75G>C (n.793+75G>C) c.874+56G>C (n.874+56G>C) c.531G>C (p.Glu177Asp) | |
8 | g.96145001C>T | CA462454675 | GDF6 | c.930G>A (p.Glu310=) c.793+75G>A (n.793+75G>A) c.874+56G>A (n.874+56G>A) c.531G>A (p.Glu177=) | gnomAD v4 |
8 | g.96145002T>A | CA371751504 | GDF6 | c.929A>T (p.Glu310Val) c.793+74A>T (n.793+74A>T) c.874+55A>T (n.874+55A>T) c.530A>T (p.Glu177Val) | gnomAD v4 |
8 | g.96145002T>C | CA371751502 | GDF6 | c.929A>G (p.Glu310Gly) c.793+74A>G (n.793+74A>G) c.874+55A>G (n.874+55A>G) c.530A>G (p.Glu177Gly) | gnomAD v4 |
8 | g.96145002T>G | CA371751503 | GDF6 | c.929A>C (p.Glu310Ala) c.793+74A>C (n.793+74A>C) c.874+55A>C (n.874+55A>C) c.530A>C (p.Glu177Ala) | |
8 | g.96145002T= | CA1804261506 | GDF6 | c.929A= (p.Glu310=) c.793+74A= (n.793+74A=) c.874+55A= (n.874+55A=) c.530A= (p.Glu177=) | |
8 | g.96145003C>A | CA371751505 | GDF6 | c.928G>T (p.Glu310Ter) c.793+73G>T (n.793+73G>T) c.874+54G>T (n.874+54G>T) c.529G>T (p.Glu177Ter) | gnomAD v4 |
8 | g.96145003C= | CA1804261512 | GDF6 | c.928G= (p.Glu310=) c.793+73G= (n.793+73G=) c.874+54G= (n.874+54G=) c.529G= (p.Glu177=) | |
8 | g.96145003C>G | CA371751506 | GDF6 | c.928G>C (p.Glu310Gln) c.793+73G>C (n.793+73G>C) c.874+54G>C (n.874+54G>C) c.529G>C (p.Glu177Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145003C>T | CA371751507 | GDF6 | c.928G>A (p.Glu310Lys) c.793+73G>A (n.793+73G>A) c.874+54G>A (n.874+54G>A) c.529G>A (p.Glu177Lys) | ClinVar gnomAD v4 |
8 | g.96145004_96145009dup | CA583845608 | GDF6 | c.923_928dup (p.Ala309_Glu310insGlyAla) c.793+68_793+73dup (n.793+68_793+73dup) c.874+49_874+54dup (n.874+49_874+54dup) c.524_529dup (p.Ala176_Glu177insGlyAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145004G>A | CA462454682 | GDF6 | c.927C>T (p.Ala309=) c.793+72C>T (n.793+72C>T) c.874+53C>T (n.874+53C>T) c.528C>T (p.Ala176=) | gnomAD v4 |
8 | g.96145004G>C | CA462454683 | GDF6 | c.927C>G (p.Ala309=) c.793+72C>G (n.793+72C>G) c.874+53C>G (n.874+53C>G) c.528C>G (p.Ala176=) | |
8 | g.96145004G>T | CA462454685 | GDF6 | c.927C>A (p.Ala309=) c.793+72C>A (n.793+72C>A) c.874+53C>A (n.874+53C>A) c.528C>A (p.Ala176=) | gnomAD v4 |
8 | g.96145005G>A | CA371751508 | GDF6 | c.926C>T (p.Ala309Val) c.793+71C>T (n.793+71C>T) c.874+52C>T (n.874+52C>T) c.527C>T (p.Ala176Val) | gnomAD v4 |
8 | g.96145005G>C | CA371751509 | GDF6 | c.926C>G (p.Ala309Gly) c.793+71C>G (n.793+71C>G) c.874+52C>G (n.874+52C>G) c.527C>G (p.Ala176Gly) | |
8 | g.96145005G>T | CA371751510 | GDF6 | c.926C>A (p.Ala309Asp) c.793+71C>A (n.793+71C>A) c.874+52C>A (n.874+52C>A) c.527C>A (p.Ala176Asp) | gnomAD v4 |
8 | g.96145012_96145017dup | CA2687993695 | GDF6 | c.921_926dup (p.Ala309_Glu310insGlyAla) c.793+66_793+71dup (n.793+66_793+71dup) c.874+47_874+52dup (n.874+47_874+52dup) c.522_527dup (p.Ala176_Glu177insGlyAla) | gnomAD v4 |
8 | g.96145006_96145017dup | CA2687993694 | GDF6 | c.915_926dup (p.Ala309_Glu310insGlyAlaGlyAla) c.793+60_793+71dup (n.793+60_793+71dup) c.874+41_874+52dup (n.874+41_874+52dup) c.516_527dup (p.Ala176_Glu177insGlyAlaGlyAla) | gnomAD v4 |
8 | g.96145012_96145017del | CA2567509463 | GDF6 | c.921_926del (p.Gly308_Ala309del) c.793+66_793+71del (n.793+66_793+71del) c.874+47_874+52del (n.874+47_874+52del) c.522_527del (p.Gly175_Ala176del) | |
8 | g.96145005_96145047delinsGCGCCCGCGCCCGGGCCCGCAGCCTCGGCCGAGCCCAGCTGCT | CA1804261514 | GDF6 | c.884_926delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC (p.Glu295=) c.793+29_793+71delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC (n.793+29_793+71delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC) c.874+10_874+52delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC (n.874+10_874+52delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC) c.485_527delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC (p.Glu162=) | |
8 | g.96145006C>A | CA371751511 | GDF6 | c.925G>T (p.Ala309Ser) c.793+70G>T (n.793+70G>T) c.874+51G>T (n.874+51G>T) c.526G>T (p.Ala176Ser) | gnomAD v4 |
8 | g.96145006C>G | CA371751512 | GDF6 | c.925G>C (p.Ala309Pro) c.793+70G>C (n.793+70G>C) c.874+51G>C (n.874+51G>C) c.526G>C (p.Ala176Pro) | |
8 | g.96145006C>T | CA371751513 | GDF6 | c.925G>A (p.Ala309Thr) c.793+70G>A (n.793+70G>A) c.874+51G>A (n.874+51G>A) c.526G>A (p.Ala176Thr) | gnomAD v4 |
8 | g.96145006_96145044delinsCGCCCGCGCCCGGGCCCGCAGCCTCGGCCGAGCCCAGCT | CA1804261519 | GDF6 | c.887_925delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG (p.Gln296=) c.793+32_793+70delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG (n.793+32_793+70delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG) c.874+13_874+51delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG (n.874+13_874+51delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG) c.488_526delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG (p.Gln163=) | |
8 | g.96145009_96145050del | CA1116878395 | GDF6 | c.884_925del (p.Glu295_Gly308del) c.793+29_793+70del (n.793+29_793+70del) c.874+10_874+51del (n.874+10_874+51del) c.485_526del (p.Glu162_Gly175del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145007G>A | CA462454692 | GDF6 | c.924C>T (p.Gly308=) c.793+69C>T (n.793+69C>T) c.874+50C>T (n.874+50C>T) c.525C>T (p.Gly175=) | dbSNP gnomAD v4 |
8 | g.96145007G>C | CA462454694 | GDF6 | c.924C>G (p.Gly308=) c.793+69C>G (n.793+69C>G) c.874+50C>G (n.874+50C>G) c.525C>G (p.Gly175=) | |
8 | g.96145007G= | CA1804261525 | GDF6 | c.924C= (p.Gly308=) c.793+69C= (n.793+69C=) c.874+50C= (n.874+50C=) c.525C= (p.Gly175=) | |
8 | g.96145007G>T | CA462454696 | GDF6 | c.924C>A (p.Gly308=) c.793+69C>A (n.793+69C>A) c.874+50C>A (n.874+50C>A) c.525C>A (p.Gly175=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145009_96145046del | CA583845609 | GDF6 | c.887_924del (p.Gln296ArgfsTer?) c.793+32_793+69del (n.793+32_793+69del) c.874+13_874+50del (n.874+13_874+50del) c.488_525del (p.Gln163ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145008C>A | CA371751514 | GDF6 | c.923G>T (p.Gly308Val) c.793+68G>T (n.793+68G>T) c.874+49G>T (n.874+49G>T) c.524G>T (p.Gly175Val) | gnomAD v4 |
8 | g.96145008C>G | CA371751515 | GDF6 | c.923G>C (p.Gly308Ala) c.793+68G>C (n.793+68G>C) c.874+49G>C (n.874+49G>C) c.524G>C (p.Gly175Ala) | |
8 | g.96145008C>T | CA371751516 | GDF6 | c.923G>A (p.Gly308Asp) c.793+68G>A (n.793+68G>A) c.874+49G>A (n.874+49G>A) c.524G>A (p.Gly175Asp) | gnomAD v4 |
8 | g.96145010del | CA2687993696 | GDF6 | c.923del (p.Gly308AlafsTer?) c.793+68del (n.793+68del) c.874+49del (n.874+49del) c.524del (p.Gly175AlafsTer?) | gnomAD v4 |
8 | g.96145009C>A | CA371751517 | GDF6 | c.922G>T (p.Gly308Cys) c.793+67G>T (n.793+67G>T) c.874+48G>T (n.874+48G>T) c.523G>T (p.Gly175Cys) | gnomAD v4 |
8 | g.96145009C>G | CA371751519 | GDF6 | c.922G>C (p.Gly308Arg) c.793+67G>C (n.793+67G>C) c.874+48G>C (n.874+48G>C) c.523G>C (p.Gly175Arg) | gnomAD v4 |
8 | g.96145009C>T | CA371751518 | GDF6 | c.922G>A (p.Gly308Ser) c.793+67G>A (n.793+67G>A) c.874+48G>A (n.874+48G>A) c.523G>A (p.Gly175Ser) | gnomAD v4 |
8 | g.96145010C>A | CA462454706 | GDF6 | c.921G>T (p.Ala307=) c.793+66G>T (n.793+66G>T) c.874+47G>T (n.874+47G>T) c.522G>T (p.Ala174=) | gnomAD v4 |
8 | g.96145010C= | CA1804261534 | GDF6 | c.921G= (p.Ala307=) c.793+66G= (n.793+66G=) c.874+47G= (n.874+47G=) c.522G= (p.Ala174=) | |
8 | g.96145010C>G | CA4815389 | GDF6 | c.921G>C (p.Ala307=) c.793+66G>C (n.793+66G>C) c.874+47G>C (n.874+47G>C) c.522G>C (p.Ala174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145010C>T | CA462454707 | GDF6 | c.921G>A (p.Ala307=) c.793+66G>A (n.793+66G>A) c.874+47G>A (n.874+47G>A) c.522G>A (p.Ala174=) | gnomAD v4 |
8 | g.96145011G>A | CA371751522 | GDF6 | c.920C>T (p.Ala307Val) c.793+65C>T (n.793+65C>T) c.874+46C>T (n.874+46C>T) c.521C>T (p.Ala174Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145011G>C | CA371751520 | GDF6 | c.920C>G (p.Ala307Gly) c.793+65C>G (n.793+65C>G) c.874+46C>G (n.874+46C>G) c.521C>G (p.Ala174Gly) | gnomAD v4 |
8 | g.96145011G= | CA1804261539 | GDF6 | c.920C= (p.Ala307=) c.793+65C= (n.793+65C=) c.874+46C= (n.874+46C=) c.521C= (p.Ala174=) | |
8 | g.96145011G>T | CA371751521 | GDF6 | c.920C>A (p.Ala307Glu) c.793+65C>A (n.793+65C>A) c.874+46C>A (n.874+46C>A) c.521C>A (p.Ala174Glu) | gnomAD v4 |
8 | g.96145012C>A | CA371751523 | GDF6 | c.919G>T (p.Ala307Ser) c.793+64G>T (n.793+64G>T) c.874+45G>T (n.874+45G>T) c.520G>T (p.Ala174Ser) | gnomAD v4 |
8 | g.96145012C= | CA1804261549 | GDF6 | c.919G= (p.Ala307=) c.793+64G= (n.793+64G=) c.874+45G= (n.874+45G=) c.520G= (p.Ala174=) | |
8 | g.96145012C>G | CA371751524 | GDF6 | c.919G>C (p.Ala307Pro) c.793+64G>C (n.793+64G>C) c.874+45G>C (n.874+45G>C) c.520G>C (p.Ala174Pro) | |
8 | g.96145012C>T | CA371751525 | GDF6 | c.919G>A (p.Ala307Thr) c.793+64G>A (n.793+64G>A) c.874+45G>A (n.874+45G>A) c.520G>A (p.Ala174Thr) | gnomAD v4 |
8 | g.96145013G>A | CA462454712 | GDF6 | c.918C>T (p.Gly306=) c.793+63C>T (n.793+63C>T) c.874+44C>T (n.874+44C>T) c.519C>T (p.Gly173=) | gnomAD v4 |
8 | g.96145013G>C | CA462454714 | GDF6 | c.918C>G (p.Gly306=) c.793+63C>G (n.793+63C>G) c.874+44C>G (n.874+44C>G) c.519C>G (p.Gly173=) | |
8 | g.96145013G>T | CA462454717 | GDF6 | c.918C>A (p.Gly306=) c.793+63C>A (n.793+63C>A) c.874+44C>A (n.874+44C>A) c.519C>A (p.Gly173=) | gnomAD v4 |
8 | g.96145018_96145023dup | CA1116878406 | GDF6 | c.913_918dup (p.Gly306_Ala307insProGly) c.793+58_793+63dup (n.793+58_793+63dup) c.874+39_874+44dup (n.874+39_874+44dup) c.514_519dup (p.Gly173_Ala174insProGly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145014C>A | CA371751526 | GDF6 | c.917G>T (p.Gly306Val) c.793+62G>T (n.793+62G>T) c.874+43G>T (n.874+43G>T) c.518G>T (p.Gly173Val) | gnomAD v4 |
8 | g.96145014C>G | CA371751527 | GDF6 | c.917G>C (p.Gly306Ala) c.793+62G>C (n.793+62G>C) c.874+43G>C (n.874+43G>C) c.518G>C (p.Gly173Ala) | |
8 | g.96145014C>T | CA371751528 | GDF6 | c.917G>A (p.Gly306Asp) c.793+62G>A (n.793+62G>A) c.874+43G>A (n.874+43G>A) c.518G>A (p.Gly173Asp) | gnomAD v4 |
8 | g.96145016del | CA2579211110 | GDF6 | c.917del (p.Gly306AlafsTer?) c.793+62del (n.793+62del) c.874+43del (n.874+43del) c.518del (p.Gly173AlafsTer?) | gnomAD v4 |
8 | g.96145015C>A | CA371751529 | GDF6 | c.916G>T (p.Gly306Cys) c.793+61G>T (n.793+61G>T) c.874+42G>T (n.874+42G>T) c.517G>T (p.Gly173Cys) | gnomAD v4 |
8 | g.96145015C>G | CA371751530 | GDF6 | c.916G>C (p.Gly306Arg) c.793+61G>C (n.793+61G>C) c.874+42G>C (n.874+42G>C) c.517G>C (p.Gly173Arg) | |
8 | g.96145015C>T | CA371751531 | GDF6 | c.916G>A (p.Gly306Ser) c.793+61G>A (n.793+61G>A) c.874+42G>A (n.874+42G>A) c.517G>A (p.Gly173Ser) | gnomAD v4 |
8 | g.96145016C>A | CA462454726 | GDF6 | c.915G>T (p.Pro305=) c.793+60G>T (n.793+60G>T) c.874+41G>T (n.874+41G>T) c.516G>T (p.Pro172=) | gnomAD v4 |
8 | g.96145016C= | CA1804261556 | GDF6 | c.915G= (p.Pro305=) c.793+60G= (n.793+60G=) c.874+41G= (n.874+41G=) c.516G= (p.Pro172=) | |
8 | g.96145016C>G | CA462454727 | GDF6 | c.915G>C (p.Pro305=) c.793+60G>C (n.793+60G>C) c.874+41G>C (n.874+41G>C) c.516G>C (p.Pro172=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145016C>T | CA462454723 | GDF6 | c.915G>A (p.Pro305=) c.793+60G>A (n.793+60G>A) c.874+41G>A (n.874+41G>A) c.516G>A (p.Pro172=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145017G>A | CA371751534 | GDF6 | c.914C>T (p.Pro305Leu) c.793+59C>T (n.793+59C>T) c.874+40C>T (n.874+40C>T) c.515C>T (p.Pro172Leu) | gnomAD v4 |
8 | g.96145017G>C | CA371751533 | GDF6 | c.914C>G (p.Pro305Arg) c.793+59C>G (n.793+59C>G) c.874+40C>G (n.874+40C>G) c.515C>G (p.Pro172Arg) | gnomAD v4 |
8 | g.96145017G>T | CA371751532 | GDF6 | c.914C>A (p.Pro305Gln) c.793+59C>A (n.793+59C>A) c.874+40C>A (n.874+40C>A) c.515C>A (p.Pro172Gln) | ClinVar gnomAD v4 |
8 | g.96145019del | CA2687993697 | GDF6 | c.914del (p.Pro305ArgfsTer?) c.793+59del (n.793+59del) c.874+40del (n.874+40del) c.515del (p.Pro172ArgfsTer?) | gnomAD v4 |
8 | g.96145018G>A | CA371751535 | GDF6 | c.913C>T (p.Pro305Ser) c.793+58C>T (n.793+58C>T) c.874+39C>T (n.874+39C>T) c.514C>T (p.Pro172Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145018G>C | CA371751536 | GDF6 | c.913C>G (p.Pro305Ala) c.793+58C>G (n.793+58C>G) c.874+39C>G (n.874+39C>G) c.514C>G (p.Pro172Ala) | |
8 | g.96145018G= | CA1804261558 | GDF6 | c.913C= (p.Pro305=) c.793+58C= (n.793+58C=) c.874+39C= (n.874+39C=) c.514C= (p.Pro172=) | |
8 | g.96145018G>T | CA371751537 | GDF6 | c.913C>A (p.Pro305Thr) c.793+58C>A (n.793+58C>A) c.874+39C>A (n.874+39C>A) c.514C>A (p.Pro172Thr) | gnomAD v4 |
8 | g.96145019G>A | CA462454739 | GDF6 | c.912C>T (p.Gly304=) c.793+57C>T (n.793+57C>T) c.874+38C>T (n.874+38C>T) c.513C>T (p.Gly171=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145019G>C | CA462454737 | GDF6 | c.912C>G (p.Gly304=) c.793+57C>G (n.793+57C>G) c.874+38C>G (n.874+38C>G) c.513C>G (p.Gly171=) | gnomAD v4 |
8 | g.96145019G= | CA1804261563 | GDF6 | c.912C= (p.Gly304=) c.793+57C= (n.793+57C=) c.874+38C= (n.874+38C=) c.513C= (p.Gly171=) | |
8 | g.96145019G>T | CA462454738 | GDF6 | c.912C>A (p.Gly304=) c.793+57C>A (n.793+57C>A) c.874+38C>A (n.874+38C>A) c.513C>A (p.Gly171=) | gnomAD v4 |
8 | g.96145020C>A | CA371751538 | GDF6 | c.911G>T (p.Gly304Val) c.793+56G>T (n.793+56G>T) c.874+37G>T (n.874+37G>T) c.512G>T (p.Gly171Val) | gnomAD v4 |
8 | g.96145020C>G | CA371751539 | GDF6 | c.911G>C (p.Gly304Ala) c.793+56G>C (n.793+56G>C) c.874+37G>C (n.874+37G>C) c.512G>C (p.Gly171Ala) | |
8 | g.96145020C>T | CA371751540 | GDF6 | c.911G>A (p.Gly304Asp) c.793+56G>A (n.793+56G>A) c.874+37G>A (n.874+37G>A) c.512G>A (p.Gly171Asp) | gnomAD v4 |
8 | g.96145021C>A | CA371751541 | GDF6 | c.910G>T (p.Gly304Cys) c.793+55G>T (n.793+55G>T) c.874+36G>T (n.874+36G>T) c.511G>T (p.Gly171Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145021C= | CA1804261566 | GDF6 | c.910G= (p.Gly304=) c.793+55G= (n.793+55G=) c.874+36G= (n.874+36G=) c.511G= (p.Gly171=) | |
8 | g.96145021C>G | CA371751542 | GDF6 | c.910G>C (p.Gly304Arg) c.793+55G>C (n.793+55G>C) c.874+36G>C (n.874+36G>C) c.511G>C (p.Gly171Arg) | |
8 | g.96145021C>T | CA371751543 | GDF6 | c.910G>A (p.Gly304Ser) c.793+55G>A (n.793+55G>A) c.874+36G>A (n.874+36G>A) c.511G>A (p.Gly171Ser) | gnomAD v4 |
8 | g.96145022C>A | CA462454746 | GDF6 | c.909G>T (p.Ala303=) c.793+54G>T (n.793+54G>T) c.874+35G>T (n.874+35G>T) c.510G>T (p.Ala170=) | gnomAD v4 |
8 | g.96145022C= | CA1804261573 | GDF6 | c.909G= (p.Ala303=) c.793+54G= (n.793+54G=) c.874+35G= (n.874+35G=) c.510G= (p.Ala170=) | |
8 | g.96145022C>G | CA462454750 | GDF6 | c.909G>C (p.Ala303=) c.793+54G>C (n.793+54G>C) c.874+35G>C (n.874+35G>C) c.510G>C (p.Ala170=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145022C>T | CA462454747 | GDF6 | c.909G>A (p.Ala303=) c.793+54G>A (n.793+54G>A) c.874+35G>A (n.874+35G>A) c.510G>A (p.Ala170=) | gnomAD v4 |
8 | g.96145023G>A | CA371751544 | GDF6 | c.908C>T (p.Ala303Val) c.793+53C>T (n.793+53C>T) c.874+34C>T (n.874+34C>T) c.509C>T (p.Ala170Val) | gnomAD v4 |
8 | g.96145023G>C | CA371751545 | GDF6 | c.908C>G (p.Ala303Gly) c.793+53C>G (n.793+53C>G) c.874+34C>G (n.874+34C>G) c.509C>G (p.Ala170Gly) | gnomAD v4 |
8 | g.96145023G>T | CA371751546 | GDF6 | c.908C>A (p.Ala303Glu) c.793+53C>A (n.793+53C>A) c.874+34C>A (n.874+34C>A) c.509C>A (p.Ala170Glu) | gnomAD v4 |
8 | g.96145024del | CA2687993698 | GDF6 | c.907del (p.Ala303ArgfsTer?) c.793+52del (n.793+52del) c.874+33del (n.874+33del) c.508del (p.Ala170ArgfsTer?) | gnomAD v4 |
8 | g.96145024C>A | CA371751549 | GDF6 | c.907G>T (p.Ala303Ser) c.793+52G>T (n.793+52G>T) c.874+33G>T (n.874+33G>T) c.508G>T (p.Ala170Ser) | gnomAD v4 |
8 | g.96145024C>G | CA371751548 | GDF6 | c.907G>C (p.Ala303Pro) c.793+52G>C (n.793+52G>C) c.874+33G>C (n.874+33G>C) c.508G>C (p.Ala170Pro) | |
8 | g.96145024C>T | CA371751547 | GDF6 | c.907G>A (p.Ala303Thr) c.793+52G>A (n.793+52G>A) c.874+33G>A (n.874+33G>A) c.508G>A (p.Ala170Thr) | gnomAD v4 |
8 | g.96145025A= | CA1804261579 | GDF6 | c.906T= (p.Ala302=) c.793+51T= (n.793+51T=) c.874+32T= (n.874+32T=) c.507T= (p.Ala169=) | |
8 | g.96145025A>C | CA181485030 | GDF6 | c.906T>G (p.Ala302=) c.793+51T>G (n.793+51T>G) c.874+32T>G (n.874+32T>G) c.507T>G (p.Ala169=) | dbSNP gnomAD v4 |
8 | g.96145025A>G | CA462454773 | GDF6 | c.906T>C (p.Ala302=) c.793+51T>C (n.793+51T>C) c.874+32T>C (n.874+32T>C) c.507T>C (p.Ala169=) | gnomAD v4 |
8 | g.96145025A>T | CA462454776 | GDF6 | c.906T>A (p.Ala302=) c.793+51T>A (n.793+51T>A) c.874+32T>A (n.874+32T>A) c.507T>A (p.Ala169=) | gnomAD v4 |
8 | g.96145026G>A | CA371751550 | GDF6 | c.905C>T (p.Ala302Val) c.793+50C>T (n.793+50C>T) c.874+31C>T (n.874+31C>T) c.506C>T (p.Ala169Val) | gnomAD v4 |
8 | g.96145026G>C | CA371751551 | GDF6 | c.905C>G (p.Ala302Gly) c.793+50C>G (n.793+50C>G) c.874+31C>G (n.874+31C>G) c.506C>G (p.Ala169Gly) | gnomAD v4 |
8 | g.96145026G>T | CA371751552 | GDF6 | c.905C>A (p.Ala302Asp) c.793+50C>A (n.793+50C>A) c.874+31C>A (n.874+31C>A) c.506C>A (p.Ala169Asp) | gnomAD v4 |
8 | g.96145027C>A | CA371751553 | GDF6 | c.904G>T (p.Ala302Ser) c.793+49G>T (n.793+49G>T) c.874+30G>T (n.874+30G>T) c.505G>T (p.Ala169Ser) | gnomAD v4 |
8 | g.96145027C>G | CA371751554 | GDF6 | c.904G>C (p.Ala302Pro) c.793+49G>C (n.793+49G>C) c.874+30G>C (n.874+30G>C) c.505G>C (p.Ala169Pro) | |
8 | g.96145027C>T | CA371751555 | GDF6 | c.904G>A (p.Ala302Thr) c.793+49G>A (n.793+49G>A) c.874+30G>A (n.874+30G>A) c.505G>A (p.Ala169Thr) | gnomAD v4 |
8 | g.96145028del | CA2687993699 | GDF6 | c.904del (p.Ala302LeufsTer?) c.793+49del (n.793+49del) c.874+30del (n.874+30del) c.505del (p.Ala169LeufsTer?) | gnomAD v4 |
8 | g.96145028C>A | CA371751556 | GDF6 | c.903G>T (p.Glu301Asp) c.793+48G>T (n.793+48G>T) c.874+29G>T (n.874+29G>T) c.504G>T (p.Glu168Asp) | gnomAD v4 |
8 | g.96145028C>G | CA371751557 | GDF6 | c.903G>C (p.Glu301Asp) c.793+48G>C (n.793+48G>C) c.874+29G>C (n.874+29G>C) c.504G>C (p.Glu168Asp) | |
8 | g.96145028C>T | CA462454787 | GDF6 | c.903G>A (p.Glu301=) c.793+48G>A (n.793+48G>A) c.874+29G>A (n.874+29G>A) c.504G>A (p.Glu168=) | ClinVar dbSNP gnomAD v4 |
8 | g.96145029T>A | CA371751558 | GDF6 | c.902A>T (p.Glu301Val) c.793+47A>T (n.793+47A>T) c.874+28A>T (n.874+28A>T) c.503A>T (p.Glu168Val) | |
8 | g.96145029T>C | CA4815390 | GDF6 | c.902A>G (p.Glu301Gly) c.793+47A>G (n.793+47A>G) c.874+28A>G (n.874+28A>G) c.503A>G (p.Glu168Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145029T>G | CA371751559 | GDF6 | c.902A>C (p.Glu301Ala) c.793+47A>C (n.793+47A>C) c.874+28A>C (n.874+28A>C) c.503A>C (p.Glu168Ala) | |
8 | g.96145029T= | CA1804261585 | GDF6 | c.902A= (p.Glu301=) c.793+47A= (n.793+47A=) c.874+28A= (n.874+28A=) c.503A= (p.Glu168=) | |
8 | g.96145030del | CA2687993700 | GDF6 | c.901del (p.Glu301ArgfsTer?) c.793+46del (n.793+46del) c.874+27del (n.874+27del) c.502del (p.Glu168ArgfsTer?) | gnomAD v4 |
8 | g.96145030C>A | CA371751562 | GDF6 | c.901G>T (p.Glu301Ter) c.793+46G>T (n.793+46G>T) c.874+27G>T (n.874+27G>T) c.502G>T (p.Glu168Ter) | gnomAD v4 |
8 | g.96145030C= | CA1804261596 | GDF6 | c.901G= (p.Glu301=) c.793+46G= (n.793+46G=) c.874+27G= (n.874+27G=) c.502G= (p.Glu168=) | |
8 | g.96145030C>G | CA371751561 | GDF6 | c.901G>C (p.Glu301Gln) c.793+46G>C (n.793+46G>C) c.874+27G>C (n.874+27G>C) c.502G>C (p.Glu168Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145030C>T | CA371751560 | GDF6 | c.901G>A (p.Glu301Lys) c.793+46G>A (n.793+46G>A) c.874+27G>A (n.874+27G>A) c.502G>A (p.Glu168Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145030_96145031del | CA2687993701 | GDF6 | c.900_901del (p.Glu301GlyfsTer?) c.793+45_793+46del (n.793+45_793+46del) c.874+26_874+27del (n.874+26_874+27del) c.501_502del (p.Glu168GlyfsTer?) | gnomAD v4 |
8 | g.96145030_96145031insACA | CA2781376669 | GDF6 | c.900_901insTGT (p.Ala300_Glu301insCys) c.793+45_793+46insTGT (n.793+45_793+46insTGT) c.874+26_874+27insTGT (n.874+26_874+27insTGT) c.501_502insTGT (p.Ala167_Glu168insCys) | |
8 | g.96145031G>A | CA462454789 | GDF6 | c.900C>T (p.Ala300=) c.793+45C>T (n.793+45C>T) c.874+26C>T (n.874+26C>T) c.501C>T (p.Ala167=) | gnomAD v4 |
8 | g.96145031G>C | CA462454790 | GDF6 | c.900C>G (p.Ala300=) c.793+45C>G (n.793+45C>G) c.874+26C>G (n.874+26C>G) c.501C>G (p.Ala167=) | dbSNP gnomAD v4 |
8 | g.96145031G= | CA1804261599 | GDF6 | c.900C= (p.Ala300=) c.793+45C= (n.793+45C=) c.874+26C= (n.874+26C=) c.501C= (p.Ala167=) | |
8 | g.96145031G>T | CA462454791 | GDF6 | c.900C>A (p.Ala300=) c.793+45C>A (n.793+45C>A) c.874+26C>A (n.874+26C>A) c.501C>A (p.Ala167=) | gnomAD v4 |
8 | g.96145032G>A | CA371751563 | GDF6 | c.899C>T (p.Ala300Val) c.793+44C>T (n.793+44C>T) c.874+25C>T (n.874+25C>T) c.500C>T (p.Ala167Val) | gnomAD v4 |
8 | g.96145032G>C | CA371751564 | GDF6 | c.899C>G (p.Ala300Gly) c.793+44C>G (n.793+44C>G) c.874+25C>G (n.874+25C>G) c.500C>G (p.Ala167Gly) | |
8 | g.96145032G>T | CA371751565 | GDF6 | c.899C>A (p.Ala300Asp) c.793+44C>A (n.793+44C>A) c.874+25C>A (n.874+25C>A) c.500C>A (p.Ala167Asp) | gnomAD v4 |
8 | g.96145033C>A | CA371751566 | GDF6 | c.898G>T (p.Ala300Ser) c.793+43G>T (n.793+43G>T) c.874+24G>T (n.874+24G>T) c.499G>T (p.Ala167Ser) | gnomAD v4 |
8 | g.96145033C>G | CA371751567 | GDF6 | c.898G>C (p.Ala300Pro) c.793+43G>C (n.793+43G>C) c.874+24G>C (n.874+24G>C) c.499G>C (p.Ala167Pro) | |
8 | g.96145033C>T | CA371751568 | GDF6 | c.898G>A (p.Ala300Thr) c.793+43G>A (n.793+43G>A) c.874+24G>A (n.874+24G>A) c.499G>A (p.Ala167Thr) | gnomAD v4 |
8 | g.96145034dup | CA2839231274 | GDF6 | c.898dup (p.Ala300GlyfsTer?) c.793+43dup (n.793+43dup) c.874+24dup (n.874+24dup) c.499dup (p.Ala167GlyfsTer?) | |
8 | g.96145034C>A | CA462454798 | GDF6 | c.897G>T (p.Ser299=) c.793+42G>T (n.793+42G>T) c.874+23G>T (n.874+23G>T) c.498G>T (p.Ser166=) | gnomAD v4 |
8 | g.96145034C= | CA1804261601 | GDF6 | c.897G= (p.Ser299=) c.793+42G= (n.793+42G=) c.874+23G= (n.874+23G=) c.498G= (p.Ser166=) | |
8 | g.96145034C>G | CA462454799 | GDF6 | c.897G>C (p.Ser299=) c.793+42G>C (n.793+42G>C) c.874+23G>C (n.874+23G>C) c.498G>C (p.Ser166=) | ClinVar gnomAD v4 |
8 | g.96145034C>T | CA4815391 | GDF6 | c.897G>A (p.Ser299=) c.793+42G>A (n.793+42G>A) c.874+23G>A (n.874+23G>A) c.498G>A (p.Ser166=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.96145035del | CA2781376670 | GDF6 | c.896del (p.Ser299TrpfsTer?) c.793+41del (n.793+41del) c.874+22del (n.874+22del) c.497del (p.Ser166TrpfsTer?) | |
8 | g.96145035G>A | CA4815392 | GDF6 | c.896C>T (p.Ser299Leu) c.793+41C>T (n.793+41C>T) c.874+22C>T (n.874+22C>T) c.497C>T (p.Ser166Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145035G>C | CA371751569 | GDF6 | c.896C>G (p.Ser299Trp) c.793+41C>G (n.793+41C>G) c.874+22C>G (n.874+22C>G) c.497C>G (p.Ser166Trp) | gnomAD v4 |
8 | g.96145035G= | CA1804261608 | GDF6 | c.896C= (p.Ser299=) c.793+41C= (n.793+41C=) c.874+22C= (n.874+22C=) c.497C= (p.Ser166=) | |
8 | g.96145035G>T | CA371751570 | GDF6 | c.896C>A (p.Ser299Ter) c.793+41C>A (n.793+41C>A) c.874+22C>A (n.874+22C>A) c.497C>A (p.Ser166Ter) | gnomAD v4 |
8 | g.96145036_96145037del | CA2840294831 | GDF6 | c.895_896del (p.Ser299GlyfsTer?) c.793+40_793+41del (n.793+40_793+41del) c.874+21_874+22del (n.874+21_874+22del) c.496_497del (p.Ser166GlyfsTer?) | |
8 | g.96145036A>C | CA371751571 | GDF6 | c.895T>G (p.Ser299Ala) c.793+40T>G (n.793+40T>G) c.874+21T>G (n.874+21T>G) c.496T>G (p.Ser166Ala) | |
8 | g.96145036A>G | CA371751572 | GDF6 | c.895T>C (p.Ser299Pro) c.793+40T>C (n.793+40T>C) c.874+21T>C (n.874+21T>C) c.496T>C (p.Ser166Pro) | gnomAD v4 |
8 | g.96145036A>T | CA371751573 | GDF6 | c.895T>A (p.Ser299Thr) c.793+40T>A (n.793+40T>A) c.874+21T>A (n.874+21T>A) c.496T>A (p.Ser166Thr) | |
8 | g.96145037G>A | CA462454818 | GDF6 | c.894C>T (p.Gly298=) c.793+39C>T (n.793+39C>T) c.874+20C>T (n.874+20C>T) c.495C>T (p.Gly165=) | gnomAD v4 COSMIC |
8 | g.96145037G>C | CA462454816 | GDF6 | c.894C>G (p.Gly298=) c.793+39C>G (n.793+39C>G) c.874+20C>G (n.874+20C>G) c.495C>G (p.Gly165=) | |
8 | g.96145037G>T | CA462454815 | GDF6 | c.894C>A (p.Gly298=) c.793+39C>A (n.793+39C>A) c.874+20C>A (n.874+20C>A) c.495C>A (p.Gly165=) | gnomAD v4 |
8 | g.96145038C>A | CA371751575 | GDF6 | c.893G>T (p.Gly298Val) c.793+38G>T (n.793+38G>T) c.874+19G>T (n.874+19G>T) c.494G>T (p.Gly165Val) | gnomAD v4 |
8 | g.96145038C= | CA1804261613 | GDF6 | c.893G= (p.Gly298=) c.793+38G= (n.793+38G=) c.874+19G= (n.874+19G=) c.494G= (p.Gly165=) | |
8 | g.96145038C>G | CA371751576 | GDF6 | c.893G>C (p.Gly298Ala) c.793+38G>C (n.793+38G>C) c.874+19G>C (n.874+19G>C) c.494G>C (p.Gly165Ala) | |
8 | g.96145038C>T | CA371751574 | GDF6 | c.893G>A (p.Gly298Asp) c.793+38G>A (n.793+38G>A) c.874+19G>A (n.874+19G>A) c.494G>A (p.Gly165Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145040del | CA2687993702 | GDF6 | c.893del (p.Gly298AlafsTer?) c.793+38del (n.793+38del) c.874+19del (n.874+19del) c.494del (p.Gly165AlafsTer?) | gnomAD v4 |
8 | g.96145038_96145043del | CA2687993703 | GDF6 | c.888_893del (p.Gln296_Gly298delinsHis) c.793+33_793+38del (n.793+33_793+38del) c.874+14_874+19del (n.874+14_874+19del) c.489_494del (p.Gln163_Gly165delinsHis) | gnomAD v4 |
8 | g.96145039C>A | CA371751578 | GDF6 | c.892G>T (p.Gly298Cys) c.793+37G>T (n.793+37G>T) c.874+18G>T (n.874+18G>T) c.493G>T (p.Gly165Cys) | gnomAD v4 |
8 | g.96145039C= | CA1804261616 | GDF6 | c.892G= (p.Gly298=) c.793+37G= (n.793+37G=) c.874+18G= (n.874+18G=) c.493G= (p.Gly165=) | |
8 | g.96145039C>G | CA371751577 | GDF6 | c.892G>C (p.Gly298Arg) c.793+37G>C (n.793+37G>C) c.874+18G>C (n.874+18G>C) c.493G>C (p.Gly165Arg) | gnomAD v4 |
8 | g.96145039C>T | CA371751579 | GDF6 | c.892G>A (p.Gly298Ser) c.793+37G>A (n.793+37G>A) c.874+18G>A (n.874+18G>A) c.493G>A (p.Gly165Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145040C>A | CA462454827 | GDF6 | c.891G>T (p.Leu297=) c.793+36G>T (n.793+36G>T) c.874+17G>T (n.874+17G>T) c.492G>T (p.Leu164=) | gnomAD v4 |
8 | g.96145040C>G | CA462454830 | GDF6 | c.891G>C (p.Leu297=) c.793+36G>C (n.793+36G>C) c.874+17G>C (n.874+17G>C) c.492G>C (p.Leu164=) | |
8 | g.96145040C>T | CA462454829 | GDF6 | c.891G>A (p.Leu297=) c.793+36G>A (n.793+36G>A) c.874+17G>A (n.874+17G>A) c.492G>A (p.Leu164=) | gnomAD v4 |
8 | g.96145041A>C | CA371751580 | GDF6 | c.890T>G (p.Leu297Arg) c.793+35T>G (n.793+35T>G) c.874+16T>G (n.874+16T>G) c.491T>G (p.Leu164Arg) | |
8 | g.96145041A>G | CA371751582 | GDF6 | c.890T>C (p.Leu297Pro) c.793+35T>C (n.793+35T>C) c.874+16T>C (n.874+16T>C) c.491T>C (p.Leu164Pro) | gnomAD v4 |
8 | g.96145041A>T | CA371751581 | GDF6 | c.890T>A (p.Leu297Gln) c.793+35T>A (n.793+35T>A) c.874+16T>A (n.874+16T>A) c.491T>A (p.Leu164Gln) | gnomAD v4 |
8 | g.96145041_96145042del | CA2840294832 | GDF6 | c.889_890del (p.Leu297GlyfsTer?) c.793+34_793+35del (n.793+34_793+35del) c.874+15_874+16del (n.874+15_874+16del) c.490_491del (p.Leu164GlyfsTer?) | |
8 | g.96145042G>A | CA462454833 | GDF6 | c.889C>T (p.Leu297=) c.793+34C>T (n.793+34C>T) c.874+15C>T (n.874+15C>T) c.490C>T (p.Leu164=) | gnomAD v4 |
8 | g.96145042G>C | CA371751583 | GDF6 | c.889C>G (p.Leu297Val) c.793+34C>G (n.793+34C>G) c.874+15C>G (n.874+15C>G) c.490C>G (p.Leu164Val) | gnomAD v4 |
8 | g.96145042G>T | CA371751584 | GDF6 | c.889C>A (p.Leu297Met) c.793+34C>A (n.793+34C>A) c.874+15C>A (n.874+15C>A) c.490C>A (p.Leu164Met) | gnomAD v4 |
8 | g.96145043C>A | CA181485031 | GDF6 | c.888G>T (p.Gln296His) c.793+33G>T (n.793+33G>T) c.874+14G>T (n.874+14G>T) c.489G>T (p.Gln163His) | dbSNP gnomAD v4 |
8 | g.96145043C= | CA1804261619 | GDF6 | c.888G= (p.Gln296=) c.793+33G= (n.793+33G=) c.874+14G= (n.874+14G=) c.489G= (p.Gln163=) | |
8 | g.96145043C>G | CA371751585 | GDF6 | c.888G>C (p.Gln296His) c.793+33G>C (n.793+33G>C) c.874+14G>C (n.874+14G>C) c.489G>C (p.Gln163His) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145043C>T | CA462454834 | GDF6 | c.888G>A (p.Gln296=) c.793+33G>A (n.793+33G>A) c.874+14G>A (n.874+14G>A) c.489G>A (p.Gln163=) | gnomAD v4 |
8 | g.96145044T>A | CA371751586 | GDF6 | c.887A>T (p.Gln296Leu) c.793+32A>T (n.793+32A>T) c.874+13A>T (n.874+13A>T) c.488A>T (p.Gln163Leu) | |
8 | g.96145044T>C | CA371751587 | GDF6 | c.887A>G (p.Gln296Arg) c.793+32A>G (n.793+32A>G) c.874+13A>G (n.874+13A>G) c.488A>G (p.Gln163Arg) | dbSNP gnomAD v4 |
8 | g.96145044T>G | CA371751588 | GDF6 | c.887A>C (p.Gln296Pro) c.793+32A>C (n.793+32A>C) c.874+13A>C (n.874+13A>C) c.488A>C (p.Gln163Pro) | gnomAD v4 |
8 | g.96145044T= | CA1804261621 | GDF6 | c.887A= (p.Gln296=) c.793+32A= (n.793+32A=) c.874+13A= (n.874+13A=) c.488A= (p.Gln163=) | |
8 | g.96145045G>A | CA371751589 | GDF6 | c.886C>T (p.Gln296Ter) c.793+31C>T (n.793+31C>T) c.874+12C>T (n.874+12C>T) c.487C>T (p.Gln163Ter) | gnomAD v4 |
8 | g.96145045G>C | CA371751590 | GDF6 | c.886C>G (p.Gln296Glu) c.793+31C>G (n.793+31C>G) c.874+12C>G (n.874+12C>G) c.487C>G (p.Gln163Glu) | gnomAD v4 |
8 | g.96145045G>T | CA371751591 | GDF6 | c.886C>A (p.Gln296Lys) c.793+31C>A (n.793+31C>A) c.874+12C>A (n.874+12C>A) c.487C>A (p.Gln163Lys) | gnomAD v4 |
8 | g.96145045_96145046del | CA2687993704 | GDF6 | c.885_886del (p.Gln296AlafsTer?) c.793+30_793+31del (n.793+30_793+31del) c.874+11_874+12del (n.874+11_874+12del) c.486_487del (p.Gln163AlafsTer?) | gnomAD v4 |
8 | g.96145046C>A | CA371751592 | GDF6 | c.885G>T (p.Glu295Asp) c.793+30G>T (n.793+30G>T) c.874+11G>T (n.874+11G>T) c.486G>T (p.Glu162Asp) | gnomAD v4 |
8 | g.96145046C= | CA1804261624 | GDF6 | c.885G= (p.Glu295=) c.793+30G= (n.793+30G=) c.874+11G= (n.874+11G=) c.486G= (p.Glu162=) | |
8 | g.96145046C>G | CA371751593 | GDF6 | c.885G>C (p.Glu295Asp) c.793+30G>C (n.793+30G>C) c.874+11G>C (n.874+11G>C) c.486G>C (p.Glu162Asp) | |
8 | g.96145046C>T | CA4815393 | GDF6 | c.885G>A (p.Glu295=) c.793+30G>A (n.793+30G>A) c.874+11G>A (n.874+11G>A) c.486G>A (p.Glu162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145047T>A | CA371751594 | GDF6 | c.884A>T (p.Glu295Val) c.793+29A>T (n.793+29A>T) c.874+10A>T (n.874+10A>T) c.485A>T (p.Glu162Val) | gnomAD v4 COSMIC |
8 | g.96145047T>C | CA371751596 | GDF6 | c.884A>G (p.Glu295Gly) c.793+29A>G (n.793+29A>G) c.874+10A>G (n.874+10A>G) c.485A>G (p.Glu162Gly) | gnomAD v4 |
8 | g.96145047T>G | CA371751595 | GDF6 | c.884A>C (p.Glu295Ala) c.793+29A>C (n.793+29A>C) c.874+10A>C (n.874+10A>C) c.485A>C (p.Glu162Ala) | |
8 | g.96145048C>A | CA371751597 | GDF6 | c.883G>T (p.Glu295Ter) c.793+28G>T (n.793+28G>T) c.874+9G>T (n.874+9G>T) c.484G>T (p.Glu162Ter) | gnomAD v4 |
8 | g.96145048C= | CA1804261629 | GDF6 | c.883G= (p.Glu295=) c.793+28G= (n.793+28G=) c.874+9G= (n.874+9G=) c.484G= (p.Glu162=) | |
8 | g.96145048C>G | CA371751598 | GDF6 | c.883G>C (p.Glu295Gln) c.793+28G>C (n.793+28G>C) c.874+9G>C (n.874+9G>C) c.484G>C (p.Glu162Gln) | gnomAD v4 |
8 | g.96145048C>T | CA371751599 | GDF6 | c.883G>A (p.Glu295Lys) c.793+28G>A (n.793+28G>A) c.874+9G>A (n.874+9G>A) c.484G>A (p.Glu162Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145051_96145052del | CA2687993705 | GDF6 | c.882_883del (p.Glu295AlafsTer?) c.793+27_793+28del (n.793+27_793+28del) c.874+8_874+9del (n.874+8_874+9del) c.483_484del (p.Glu162AlafsTer?) | gnomAD v4 |
8 | g.96145049G>A | CA462454867 | GDF6 | c.882C>T (p.Arg294=) c.793+27C>T (n.793+27C>T) c.874+8C>T (n.874+8C>T) c.483C>T (p.Arg161=) | gnomAD v4 |
8 | g.96145049G>C | CA462454868 | GDF6 | c.882C>G (p.Arg294=) c.793+27C>G (n.793+27C>G) c.874+8C>G (n.874+8C>G) c.483C>G (p.Arg161=) | gnomAD v4 |
8 | g.96145049G>T | CA462454869 | GDF6 | c.882C>A (p.Arg294=) c.793+27C>A (n.793+27C>A) c.874+8C>A (n.874+8C>A) c.483C>A (p.Arg161=) | gnomAD v4 |
8 | g.96145050C>A | CA371751600 | GDF6 | c.881G>T (p.Arg294Leu) c.793+26G>T (n.793+26G>T) c.874+7G>T (n.874+7G>T) c.482G>T (p.Arg161Leu) | gnomAD v4 |
8 | g.96145050C>G | CA371751601 | GDF6 | c.881G>C (p.Arg294Pro) c.793+26G>C (n.793+26G>C) c.874+7G>C (n.874+7G>C) c.482G>C (p.Arg161Pro) | |
8 | g.96145050C>T | CA371751602 | GDF6 | c.881G>A (p.Arg294His) c.793+26G>A (n.793+26G>A) c.874+7G>A (n.874+7G>A) c.482G>A (p.Arg161His) | ClinVar dbSNP gnomAD v4 |
8 | g.96145051G>A | CA371751603 | GDF6 | c.880C>T (p.Arg294Cys) c.793+25C>T (n.793+25C>T) c.874+6C>T (n.874+6C>T) c.481C>T (p.Arg161Cys) | gnomAD v4 |
8 | g.96145051G>C | CA4815394 | GDF6 | c.880C>G (p.Arg294Gly) c.793+25C>G (n.793+25C>G) c.874+6C>G (n.874+6C>G) c.481C>G (p.Arg161Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145051G= | CA1804261634 | GDF6 | c.880C= (p.Arg294=) c.793+25C= (n.793+25C=) c.874+6C= (n.874+6C=) c.481C= (p.Arg161=) | |
8 | g.96145051G>T | CA371751604 | GDF6 | c.880C>A (p.Arg294Ser) c.793+25C>A (n.793+25C>A) c.874+6C>A (n.874+6C>A) c.481C>A (p.Arg161Ser) | gnomAD v4 |
8 | g.96145052C>A | CA371751607 | GDF6 | c.879G>T (p.Met293Ile) c.793+24G>T (n.793+24G>T) c.874+5G>T (n.874+5G>T) c.480G>T (p.Met160Ile) | gnomAD v4 |
8 | g.96145052C= | CA1804261639 | GDF6 | c.879G= (p.Met293=) c.793+24G= (n.793+24G=) c.874+5G= (n.874+5G=) c.480G= (p.Met160=) | |
8 | g.96145052C>G | CA371751606 | GDF6 | c.879G>C (p.Met293Ile) c.793+24G>C (n.793+24G>C) c.874+5G>C (n.874+5G>C) c.480G>C (p.Met160Ile) | dbSNP |
8 | g.96145052C>T | CA371751605 | GDF6 | c.879G>A (p.Met293Ile) c.793+24G>A (n.793+24G>A) c.874+5G>A (n.874+5G>A) c.480G>A (p.Met160Ile) | gnomAD v4 |
8 | g.96145053A= | CA1804261642 | GDF6 | c.878T= (p.Met293=) c.793+23T= (n.793+23T=) c.874+4T= (n.874+4T=) c.479T= (p.Met160=) | |
8 | g.96145053A>C | CA371751608 | GDF6 | c.878T>G (p.Met293Arg) c.793+23T>G (n.793+23T>G) c.874+4T>G (n.874+4T>G) c.479T>G (p.Met160Arg) | |
8 | g.96145053A>G | CA4815395 | GDF6 | c.878T>C (p.Met293Thr) c.793+23T>C (n.793+23T>C) c.874+4T>C (n.874+4T>C) c.479T>C (p.Met160Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145053A>T | CA371751609 | GDF6 | c.878T>A (p.Met293Lys) c.793+23T>A (n.793+23T>A) c.874+4T>A (n.874+4T>A) c.479T>A (p.Met160Lys) | |
8 | g.96145054T>A | CA371751610 | GDF6 | c.877A>T (p.Met293Leu) c.793+22A>T (n.793+22A>T) c.874+3A>T (n.874+3A>T) c.478A>T (p.Met160Leu) | gnomAD v4 |
8 | g.96145054T>C | CA371751611 | GDF6 | c.877A>G (p.Met293Val) c.793+22A>G (n.793+22A>G) c.874+3A>G (n.874+3A>G) c.478A>G (p.Met160Val) | gnomAD v4 |
8 | g.96145054T>G | CA371751612 | GDF6 | c.877A>C (p.Met293Leu) c.793+22A>C (n.793+22A>C) c.874+3A>C (n.874+3A>C) c.478A>C (p.Met160Leu) | gnomAD v4 |
8 | g.96145057_96145058del | CA2781376671 | GDF6 | c.876_877del (p.Glu292AspfsTer?) c.793+21_793+22del (n.793+21_793+22del) c.874+2_874+3del c.477_478del (p.Glu159AspfsTer?) | |
8 | g.96145055C>A | CA371751613 | GDF6 | c.876G>T (p.Glu292Asp) c.793+21G>T (n.793+21G>T) c.874+2G>T (n.874+2G>T) c.477G>T (p.Glu159Asp) | gnomAD v4 |
8 | g.96145055C= | CA1804261647 | GDF6 | c.876G= (p.Glu292=) c.793+21G= (n.793+21G=) c.874+2G= (n.874+2G=) c.477G= (p.Glu159=) | |
8 | g.96145055C>G | CA371751614 | GDF6 | c.876G>C (p.Glu292Asp) c.793+21G>C (n.793+21G>C) c.874+2G>C (n.874+2G>C) c.477G>C (p.Glu159Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145055C>T | CA371751615 | GDF6 | c.876G>A (p.Glu292=) c.793+21G>A (n.793+21G>A) c.874+2G>A (n.874+2G>A) c.477G>A (p.Glu159=) | gnomAD v4 |
8 | g.96145055_96145056insCAGGCCCGACGCTCCCACTGCTGATTGGTGGCCAGGACCGTGGTGTAACCCGCCTCGCGCAGGTCCCTCACCAGCTGCCAGGCCACGGGG | CA913142007 | GDF6 | c.875_876insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG (p.Glu292delinsAspProValAlaTrpGlnLeuValArgAspLeuArgGluAlaGlyTyrThrThrValLeuAlaThrAsnGlnGlnTrpGluArgArgAlaTrp) c.793+20_793+21insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG (n.793+20_793+21insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG) c.874+1_874+2insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG (n.874+1_874+2insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG) c.476_477insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG (p.Glu159delinsAspProValAlaTrpGlnLeuValArgAspLeuArgGluAlaGlyTyrThrThrValLeuAlaThrAsnGlnGlnTrpGluArgArgAlaTrp) | |
8 | g.96145056T>A | CA371751616 | GDF6 | c.875A>T (p.Glu292Val) c.793+20A>T (n.793+20A>T) c.874+1A>T (n.874+1A>T) c.476A>T (p.Glu159Val) | gnomAD v4 |
8 | g.96145056T>C | CA371751617 | GDF6 | c.875A>G (p.Glu292Gly) c.793+20A>G (n.793+20A>G) c.874+1A>G (n.874+1A>G) c.476A>G (p.Glu159Gly) | gnomAD v4 |
8 | g.96145056T>G | CA371751618 | GDF6 | c.875A>C (p.Glu292Ala) c.793+20A>C (n.793+20A>C) c.874+1A>C (n.874+1A>C) c.476A>C (p.Glu159Ala) | |
8 | g.96145057C>A | CA371751621 | GDF6 | c.874G>T (p.Glu292Ter) c.793+19G>T (n.793+19G>T) c.874G>T (p.Ala292Ser) c.475G>T (p.Glu159Ter) | gnomAD v4 |
8 | g.96145057C>G | CA371751620 | GDF6 | c.874G>C (p.Glu292Gln) c.793+19G>C (n.793+19G>C) c.874G>C (p.Ala292Pro) c.475G>C (p.Glu159Gln) | gnomAD v4 |
8 | g.96145057C>T | CA371751619 | GDF6 | c.874G>A (p.Glu292Lys) c.793+19G>A (n.793+19G>A) c.874G>A (p.Ala292Thr) c.475G>A (p.Glu159Lys) | gnomAD v4 |
8 | g.96145058T>A | CA462454887 | GDF6 | c.873A>T (p.Ala291=) c.793+18A>T (n.793+18A>T) c.474A>T (p.Ala158=) | gnomAD v4 |
8 | g.96145058T>C | CA462454894 | GDF6 | c.873A>G (p.Ala291=) c.793+18A>G (n.793+18A>G) c.474A>G (p.Ala158=) | gnomAD v4 |
8 | g.96145058T>G | CA462454900 | GDF6 | c.873A>C (p.Ala291=) c.793+18A>C (n.793+18A>C) c.474A>C (p.Ala158=) | |
8 | g.96145059G>A | CA371751622 | GDF6 | c.872C>T (p.Ala291Val) c.793+17C>T (n.793+17C>T) c.473C>T (p.Ala158Val) | gnomAD v4 |
8 | g.96145059G>C | CA371751623 | GDF6 | c.872C>G (p.Ala291Gly) c.793+17C>G (n.793+17C>G) c.473C>G (p.Ala158Gly) | |
8 | g.96145059G= | CA1804261651 | GDF6 | c.872C= (p.Ala291=) c.793+17C= (n.793+17C=) c.473C= (p.Ala158=) | |
8 | g.96145059G>T | CA371751624 | GDF6 | c.872C>A (p.Ala291Glu) c.793+17C>A (n.793+17C>A) c.473C>A (p.Ala158Glu) | dbSNP gnomAD v4 |
8 | g.96145060C>A | CA371751625 | GDF6 | c.871G>T (p.Ala291Ser) c.793+16G>T (n.793+16G>T) c.472G>T (p.Ala158Ser) | gnomAD v4 |
8 | g.96145060C>G | CA371751626 | GDF6 | c.871G>C (p.Ala291Pro) c.793+16G>C (n.793+16G>C) c.472G>C (p.Ala158Pro) | gnomAD v4 |
8 | g.96145060C>T | CA371751627 | GDF6 | c.871G>A (p.Ala291Thr) c.793+16G>A (n.793+16G>A) c.472G>A (p.Ala158Thr) | gnomAD v4 |
8 | g.96145061del | CA2687993706 | GDF6 | c.870del (p.Phe290LeufsTer?) c.793+15del (n.793+15del) c.471del (p.Phe157LeufsTer?) | gnomAD v4 |
8 | g.96145061G>A | CA4815396 | GDF6 | c.870C>T (p.Phe290=) c.793+15C>T (n.793+15C>T) c.471C>T (p.Phe157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.96145061G>C | CA4815397 | GDF6 | c.870C>G (p.Phe290Leu) c.793+15C>G (n.793+15C>G) c.471C>G (p.Phe157Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145061G= | CA1804261665 | GDF6 | c.870C= (p.Phe290=) c.793+15C= (n.793+15C=) c.471C= (p.Phe157=) | |
8 | g.96145061G>T | CA371751628 | GDF6 | c.870C>A (p.Phe290Leu) c.793+15C>A (n.793+15C>A) c.471C>A (p.Phe157Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.96145062A>C | CA371751629 | GDF6 | c.869T>G (p.Phe290Cys) c.793+14T>G (n.793+14T>G) c.470T>G (p.Phe157Cys) | |
8 | g.96145062A>G | CA371751630 | GDF6 | c.869T>C (p.Phe290Ser) c.793+14T>C (n.793+14T>C) c.470T>C (p.Phe157Ser) | gnomAD v4 |
8 | g.96145062A>T | CA371751631 | GDF6 | c.869T>A (p.Phe290Tyr) c.793+14T>A (n.793+14T>A) c.470T>A (p.Phe157Tyr) | gnomAD v4 |
8 | g.96145063A>C | CA371751634 | GDF6 | c.868T>G (p.Phe290Val) c.793+13T>G (n.793+13T>G) c.469T>G (p.Phe157Val) | |
8 | g.96145063A>G | CA371751633 | GDF6 | c.868T>C (p.Phe290Leu) c.793+13T>C (n.793+13T>C) c.469T>C (p.Phe157Leu) | gnomAD v4 |
8 | g.96145063A>T | CA371751632 | GDF6 | c.868T>A (p.Phe290Ile) c.793+13T>A (n.793+13T>A) c.469T>A (p.Phe157Ile) | gnomAD v4 |
8 | g.96145064C>A | CA462454928 | GDF6 | c.867G>T (p.Leu289=) c.793+12G>T (n.793+12G>T) c.468G>T (p.Leu156=) | gnomAD v4 |
8 | g.96145064C>G | CA462454937 | GDF6 | c.867G>C (p.Leu289=) c.793+12G>C (n.793+12G>C) c.468G>C (p.Leu156=) | |
8 | g.96145064C>T | CA462454942 | GDF6 | c.867G>A (p.Leu289=) c.793+12G>A (n.793+12G>A) c.468G>A (p.Leu156=) | gnomAD v4 |
8 | g.96145065A= | CA1804261686 | GDF6 | c.866T= (p.Leu289=) c.793+11T= (n.793+11T=) c.467T= (p.Leu156=) | |
8 | g.96145065A>C | CA371751635 | GDF6 | c.866T>G (p.Leu289Arg) c.793+11T>G (n.793+11T>G) c.467T>G (p.Leu156Arg) | gnomAD v4 |
8 | g.96145065A>G | CA119556 | GDF6 | c.866T>C (p.Leu289Pro) c.793+11T>C (n.793+11T>C) c.467T>C (p.Leu156Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145065A>T | CA371751636 | GDF6 | c.866T>A (p.Leu289Gln) c.793+11T>A (n.793+11T>A) c.467T>A (p.Leu156Gln) | |
8 | g.96145066G>A | CA462454944 | GDF6 | c.865C>T (p.Leu289=) c.793+10C>T (n.793+10C>T) c.466C>T (p.Leu156=) | gnomAD v4 |
8 | g.96145066G>C | CA371751637 | GDF6 | c.865C>G (p.Leu289Val) c.793+10C>G (n.793+10C>G) c.466C>G (p.Leu156Val) | |
8 | g.96145066G>T | CA371751638 | GDF6 | c.865C>A (p.Leu289Met) c.793+10C>A (n.793+10C>A) c.466C>A (p.Leu156Met) | gnomAD v4 |
8 | g.96145067G>A | CA462454945 | GDF6 | c.864C>T (p.Asn288=) c.793+9C>T (n.793+9C>T) c.465C>T (p.Asn155=) | gnomAD v4 |
8 | g.96145067G>C | CA371751639 | GDF6 | c.864C>G (p.Asn288Lys) c.793+9C>G (n.793+9C>G) c.465C>G (p.Asn155Lys) | |
8 | g.96145067G>T | CA371751640 | GDF6 | c.864C>A (p.Asn288Lys) c.793+9C>A (n.793+9C>A) c.465C>A (p.Asn155Lys) | gnomAD v4 |
8 | g.96145068T>A | CA371751643 | GDF6 | c.863A>T (p.Asn288Ile) c.793+8A>T (n.793+8A>T) c.464A>T (p.Asn155Ile) | gnomAD v4 |
8 | g.96145068T>C | CA371751641 | GDF6 | c.863A>G (p.Asn288Ser) c.793+8A>G (n.793+8A>G) c.464A>G (p.Asn155Ser) | gnomAD v4 |
8 | g.96145068T>G | CA371751642 | GDF6 | c.863A>C (p.Asn288Thr) c.793+8A>C (n.793+8A>C) c.464A>C (p.Asn155Thr) | |
8 | g.96145069T>A | CA371751644 | GDF6 | c.862A>T (p.Asn288Tyr) c.793+7A>T (n.793+7A>T) c.463A>T (p.Asn155Tyr) | gnomAD v4 |
8 | g.96145069T>C | CA371751645 | GDF6 | c.862A>G (p.Asn288Asp) c.793+7A>G (n.793+7A>G) c.463A>G (p.Asn155Asp) | gnomAD v4 |
8 | g.96145069T>G | CA371751646 | GDF6 | c.862A>C (p.Asn288His) c.793+7A>C (n.793+7A>C) c.463A>C (p.Asn155His) | |
8 | g.96145070C>A | CA371751647 | GDF6 | c.861G>T (p.Lys287Asn) c.793+6G>T (n.793+6G>T) c.462G>T (p.Lys154Asn) | gnomAD v4 |
8 | g.96145070C>G | CA371751648 | GDF6 | c.861G>C (p.Lys287Asn) c.793+6G>C (n.793+6G>C) c.462G>C (p.Lys154Asn) | |
8 | g.96145070C>T | CA462454963 | GDF6 | c.861G>A (p.Lys287=) c.793+6G>A (n.793+6G>A) c.462G>A (p.Lys154=) | ClinVar gnomAD v4 |
8 | g.96145071T>A | CA371751649 | GDF6 | c.860A>T (p.Lys287Met) c.793+5A>T (n.793+5A>T) c.461A>T (p.Lys154Met) | |
8 | g.96145071T>C | CA371751651 | GDF6 | c.860A>G (p.Lys287Arg) c.793+5A>G (n.793+5A>G) c.461A>G (p.Lys154Arg) | gnomAD v4 |
8 | g.96145071T>G | CA371751650 | GDF6 | c.860A>C (p.Lys287Thr) c.793+5A>C (n.793+5A>C) c.461A>C (p.Lys154Thr) | |
8 | g.96145072T>A | CA371751652 | GDF6 | c.859A>T (p.Lys287Ter) c.793+4A>T (n.793+4A>T) c.460A>T (p.Lys154Ter) | gnomAD v4 |
8 | g.96145072T>C | CA371751653 | GDF6 | c.859A>G (p.Lys287Glu) c.793+4A>G (n.793+4A>G) c.460A>G (p.Lys154Glu) | gnomAD v4 |
8 | g.96145072T>G | CA371751654 | GDF6 | c.859A>C (p.Lys287Gln) c.793+4A>C (n.793+4A>C) c.460A>C (p.Lys154Gln) | |
8 | g.96145073G>A | CA462454974 | GDF6 | c.858C>T (p.Arg286=) c.793+3C>T (n.793+3C>T) c.459C>T (p.Arg153=) | gnomAD v4 |
8 | g.96145073G>C | CA462454975 | GDF6 | c.858C>G (p.Arg286=) c.793+3C>G (n.793+3C>G) c.459C>G (p.Arg153=) | |
8 | g.96145073G>T | CA462454976 | GDF6 | c.858C>A (p.Arg286=) c.793+3C>A (n.793+3C>A) c.459C>A (p.Arg153=) | gnomAD v4 |
8 | g.96145074C>A | CA371751655 | GDF6 | c.857G>T (p.Arg286Leu) c.793+2G>T (n.793+2G>T) c.458G>T (p.Arg153Leu) | gnomAD v4 |
8 | g.96145074C= | CA1804261692 | GDF6 | c.857G= (p.Arg286=) c.793+2G= (n.793+2G=) c.458G= (p.Arg153=) | |
8 | g.96145074C>G | CA4815398 | GDF6 | c.857G>C (p.Arg286Pro) c.793+2G>C (n.793+2G>C) c.458G>C (p.Arg153Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145074C>T | CA4815399 | GDF6 | c.857G>A (p.Arg286His) c.793+2G>A (n.793+2G>A) c.458G>A (p.Arg153His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.96145075G>A | CA371751656 | GDF6 | c.856C>T (p.Arg286Cys) c.793+1C>T (n.793+1C>T) c.457C>T (p.Arg153Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.96145075G>C | CA371751657 | GDF6 | c.856C>G (p.Arg286Gly) c.793+1C>G (n.793+1C>G) c.457C>G (p.Arg153Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145075G= | CA1804261696 | GDF6 | c.856C= (p.Arg286=) c.793+1C= (n.793+1C=) c.457C= (p.Arg153=) | |
8 | g.96145075G>T | CA371751658 | GDF6 | c.856C>A (p.Arg286Ser) c.793+1C>A (n.793+1C>A) c.457C>A (p.Arg153Ser) | gnomAD v4 |
8 | g.96145076C>A | CA371751659 | GDF6 | c.855G>T (p.Gln285His) c.793G>T (p.Ala265Ser) c.456G>T (p.Gln152His) | gnomAD v4 |
8 | g.96145076C>G | CA371751660 | GDF6 | c.855G>C (p.Gln285His) c.793G>C (p.Ala265Pro) c.456G>C (p.Gln152His) | ClinVar |
8 | g.96145076C>T | CA371751661 | GDF6 | c.855G>A (p.Gln285=) c.793G>A (p.Ala265Thr) c.456G>A (p.Gln152=) | gnomAD v4 |
8 | g.96145077T>A | CA371751662 | GDF6 | c.854A>T (p.Gln285Leu) c.792A>T (p.Pro264=) c.455A>T (p.Gln152Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.96145077T>C | CA4815400 | GDF6 | c.854A>G (p.Gln285Arg) c.792A>G (p.Pro264=) c.455A>G (p.Gln152Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145077T>G | CA371751663 | GDF6 | c.854A>C (p.Gln285Pro) c.792A>C (p.Pro264=) c.455A>C (p.Gln152Pro) | |
8 | g.96145077T= | CA1804261711 | GDF6 | c.854A= (p.Gln285=) c.792A= (p.Pro264=) c.455A= (p.Gln152=) | |
8 | g.96145078G>A | CA371751664 | GDF6 | c.853C>T (p.Gln285Ter) c.791C>T (p.Pro264Leu) c.454C>T (p.Gln152Ter) | gnomAD v4 |
8 | g.96145078G>C | CA371751665 | GDF6 | c.853C>G (p.Gln285Glu) c.791C>G (p.Pro264Arg) c.454C>G (p.Gln152Glu) | |
8 | g.96145078G>T | CA371751666 | GDF6 | c.853C>A (p.Gln285Lys) c.791C>A (p.Pro264Gln) c.454C>A (p.Gln152Lys) | gnomAD v4 |
8 | g.96145080del | CA2687993708 | GDF6 | c.853del (p.Gln285SerfsTer?) c.791del (p.Pro264GlnfsTer21) c.454del (p.Gln152SerfsTer?) | gnomAD v4 |
8 | g.96145079G>A | CA371751667 | GDF6 | c.852C>T (p.Ser284=) c.790C>T (p.Pro264Ser) c.453C>T (p.Ser151=) | gnomAD v4 |
8 | g.96145079G>C | CA4815401 | GDF6 | c.852C>G (p.Ser284=) c.790C>G (p.Pro264Ala) c.453C>G (p.Ser151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145079G= | CA1804261719 | GDF6 | c.852C= (p.Ser284=) c.790C= (p.Pro264=) c.453C= (p.Ser151=) | |
8 | g.96145079G>T | CA371751668 | GDF6 | c.852C>A (p.Ser284=) c.790C>A (p.Pro264Thr) c.453C>A (p.Ser151=) | gnomAD v4 |
8 | g.96145080G>A | CA371751669 | GDF6 | c.851C>T (p.Ser284Phe) c.789C>T (p.Ile263=) c.452C>T (p.Ser151Phe) | gnomAD v4 |
8 | g.96145080G>C | CA371751670 | GDF6 | c.851C>G (p.Ser284Cys) c.789C>G (p.Ile263Met) c.452C>G (p.Ser151Cys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145080G= | CA1804261733 | GDF6 | c.851C= (p.Ser284=) c.789C= (p.Ile263=) c.452C= (p.Ser151=) | |
8 | g.96145080G>T | CA371751671 | GDF6 | c.851C>A (p.Ser284Tyr) c.789C>A (p.Ile263=) c.452C>A (p.Ser151Tyr) | gnomAD v4 |
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 |