| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.641070C>A | CA515291305 | SHOX | c.616C>A (p.Arg206=) | |
| X | g.641070C= | CA2411389869 | SHOX | c.616C= (p.Arg206=) | |
| X | g.641070C>G | CA412231900 | SHOX | c.616C>G (p.Arg206Gly) | |
| X | g.641070C>T | CA10330075 | SHOX | c.616C>T (p.Arg206Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641071G>A | CA10330076 | SHOX | c.617G>A (p.Arg206Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.641071G>C | CA412231901 | SHOX | c.617G>C (p.Arg206Pro) | |
| X | g.641071G= | CA2411389870 | SHOX | c.617G= (p.Arg206=) | |
| X | g.641071G>T | CA412231902 | SHOX | c.617G>T (p.Arg206Leu) | COSMIC COSMIC |
| X | g.641072del | CA2692951861 | SHOX | c.618del (p.Met207CysfsTer?) c.618del (p.Met207CysfsTer17) | gnomAD v4 |
| X | g.641072G>A | CA515291318 | SHOX | c.618G>A (p.Arg206=) | COSMIC COSMIC |
| X | g.641072G>C | CA515291321 | SHOX | c.618G>C (p.Arg206=) | gnomAD v4 |
| X | g.641072G>T | CA515291323 | SHOX | c.618G>T (p.Arg206=) | |
| X | g.641073A>C | CA412231903 | SHOX | c.619A>C (p.Met207Leu) | |
| X | g.641073A>G | CA412231904 | SHOX | c.619A>G (p.Met207Val) | |
| X | g.641073A>T | CA412231905 | SHOX | c.619A>T (p.Met207Leu) | |
| X | g.641074T>A | CA412231906 | SHOX | c.620T>A (p.Met207Lys) | |
| X | g.641074T>C | CA412231908 | SHOX | c.620T>C (p.Met207Thr) | |
| X | g.641074T>G | CA412231907 | SHOX | c.620T>G (p.Met207Arg) | |
| X | g.641075G>A | CA412231909 | SHOX | c.621G>A (p.Met207Ile) | |
| X | g.641075G>C | CA412231910 | SHOX | c.621G>C (p.Met207Ile) | |
| X | g.641075G= | CA2411389871 | SHOX | c.621G= (p.Met207=) | |
| X | g.641075G>T | CA412231911 | SHOX | c.621G>T (p.Met207Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641076C>A | CA412231912 | SHOX | c.622C>A (p.Pro208Thr) | gnomAD v4 |
| X | g.641076C= | CA2411389872 | SHOX | c.622C= (p.Pro208=) | |
| X | g.641076C>G | CA412231913 | SHOX | c.622C>G (p.Pro208Ala) | |
| X | g.641076C>T | CA412231914 | SHOX | c.622C>T (p.Pro208Ser) | dbSNP gnomAD v2 |
| X | g.641077C>A | CA412231915 | SHOX | c.623C>A (p.Pro208His) | |
| X | g.641077C= | CA2411389873 | SHOX | c.623C= (p.Pro208=) | |
| X | g.641077C>G | CA412231916 | SHOX | c.623C>G (p.Pro208Arg) | gnomAD v4 |
| X | g.641077C>T | CA412231917 | SHOX | c.623C>T (p.Pro208Leu) | dbSNP |
| X | g.641078T>A | CA515291349 | SHOX | c.624T>A (p.Pro208=) | |
| X | g.641078T>C | CA515291352 | SHOX | c.624T>C (p.Pro208=) | gnomAD v4 |
| X | g.641078T>G | CA515291347 | SHOX | c.624T>G (p.Pro208=) | |
| X | g.641079T>A | CA412231918 | SHOX | c.625T>A (p.Phe209Ile) | |
| X | g.641079T>C | CA412231919 | SHOX | c.625T>C (p.Phe209Leu) | COSMIC |
| X | g.641079T>G | CA412231920 | SHOX | c.625T>G (p.Phe209Val) | |
| X | g.641080T>A | CA412231921 | SHOX | c.626T>A (p.Phe209Tyr) | |
| X | g.641080T>C | CA412231923 | SHOX | c.626T>C (p.Phe209Ser) | |
| X | g.641080T>G | CA412231922 | SHOX | c.626T>G (p.Phe209Cys) | |
| X | g.641081C>A | CA412231924 | SHOX | c.627C>A (p.Phe209Leu) | |
| X | g.641081C= | CA2411389874 | SHOX | c.627C= (p.Phe209=) | |
| X | g.641081C>G | CA412231925 | SHOX | c.627C>G (p.Phe209Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641081C>T | CA515291370 | SHOX | c.627C>T (p.Phe209=) | |
| X | g.641082C>A | CA412231926 | SHOX | c.628C>A (p.Gln210Lys) | |
| X | g.641082C>G | CA412231927 | SHOX | c.628C>G (p.Gln210Glu) | |
| X | g.641082C>T | CA412231928 | SHOX | c.628C>T (p.Gln210Ter) | |
| X | g.641083A>C | CA412231929 | SHOX | c.629A>C (p.Gln210Pro) | |
| X | g.641083A>G | CA412231930 | SHOX | c.629A>G (p.Gln210Arg) | |
| X | g.641083A>T | CA412231931 | SHOX | c.629A>T (p.Gln210Leu) | |
| X | g.641084A>C | CA412231932 | SHOX | c.630A>C (p.Gln210His) | |
| X | g.641084A>G | CA515291391 | SHOX | c.630A>G (p.Gln210=) | |
| X | g.641084A>T | CA412231933 | SHOX | c.630A>T (p.Gln210His) | |
| X | g.641085C>A | CA412231935 | SHOX | c.631C>A (p.Gln211Lys) | |
| X | g.641085C>G | CA412231936 | SHOX | c.631C>G (p.Gln211Glu) | |
| X | g.641085C>T | CA412231934 | SHOX | c.631C>T (p.Gln211Ter) | |
| X | g.641086A>C | CA412231939 | SHOX | c.632A>C (p.Gln211Pro) | |
| X | g.641086A>G | CA412231937 | SHOX | c.632A>G (p.Gln211Arg) | gnomAD v4 |
| X | g.641086A>T | CA412231938 | SHOX | c.632A>T (p.Gln211Leu) | |
| X | g.641087G>A | CA515291405 | SHOX | c.633G>A (p.Gln211=) | |
| X | g.641087G>C | CA412231940 | SHOX | c.633G>C (p.Gln211His) | |
| X | g.641087G>T | CA412231941 | SHOX | c.633G>T (p.Gln211His) | |
| X | g.641088G>A | CA412231942 | SHOX | c.633+1G>A (n.633+1G>A) | |
| X | g.641088G>C | CA412231943 | SHOX | c.633+1G>C (n.633+1G>C) | |
| X | g.641088G>T | CA412231944 | SHOX | c.633+1G>T (n.633+1G>T) | |
| X | g.641089T>A | CA412231945 | SHOX | c.633+2T>A (n.633+2T>A) | |
| X | g.641089T>C | CA412231946 | SHOX | c.633+2T>C (n.633+2T>C) | |
| X | g.641089T>G | CA412231947 | SHOX | c.633+2T>G (n.633+2T>G) | |
| X | g.641090A= | CA2411389875 | SHOX | c.633+3A= (n.633+3A=) | |
| X | g.641090A>G | CA10330077 | SHOX | c.633+3A>G (n.633+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641091G>C | CA10330078 | SHOX | c.633+4G>C (n.633+4G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641091G= | CA2411389876 | SHOX | c.633+4G= (n.633+4G=) | |
| X | g.641092C>A | CA640121469 | SHOX | c.633+5C>A (n.633+5C>A) | dbSNP gnomAD v2 |
| X | g.641092C= | CA2411389877 | SHOX | c.633+5C= (n.633+5C=) | |
| X | g.641092C>G | CA10330079 | SHOX | c.633+5C>G (n.633+5C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641092C>T | CA640121464 | SHOX | c.633+5C>T (n.633+5C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641094C>T | CA2692951863 | SHOX | c.633+7C>T (n.633+7C>T) | gnomAD v4 |
| X | g.641095A= | CA2411389878 | SHOX | c.633+8A= (n.633+8A=) | |
| X | g.641095A>C | CA2692951864 | SHOX | c.633+8A>C (n.633+8A>C) | gnomAD v4 |
| X | g.641095A>G | CA877166591 | SHOX | c.633+8A>G (n.633+8A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641096C>A | CA2411389879 | SHOX | c.633+9C>A (n.633+9C>A) | dbSNP gnomAD v4 |
| X | g.641096C= | CA2411389881 | SHOX | c.633+9C= (n.633+9C=) | |
| X | g.641096C>G | CA325623541 | SHOX | c.633+9C>G (n.633+9C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641096C>T | CA10330080 | SHOX | c.633+9C>T (n.633+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641096_641097delinsCT | CA2411389880 | SHOX | c.633+9_633+10delinsCT (n.633+9_633+10delinsCT) | |
| X | g.641097T>G | CA2692951865 | SHOX | c.633+10T>G (n.633+10T>G) | gnomAD v4 |
| X | g.641101del | CA640121473 | SHOX | c.633+14del (n.633+14del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641099T>A | CA10330081 | SHOX | c.633+12T>A (n.633+12T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641099T= | CA2411389882 | SHOX | c.633+12T= (n.633+12T=) | |
| X | g.641103T>C | CA877166594 | SHOX | c.633+16T>C (n.633+16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641103T= | CA2411389883 | SHOX | c.633+16T= (n.633+16T=) | |
| X | g.641104T>C | CA10330082 | SHOX | c.633+17T>C (n.633+17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641104T= | CA2411389884 | SHOX | c.633+17T= (n.633+17T=) | |
| X | g.641105C>A | CA640121476 | SHOX | c.633+18C>A (n.633+18C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641105C= | CA2411389885 | SHOX | c.633+18C= (n.633+18C=) | |
| X | g.641106C>A | CA2692951866 | SHOX | c.633+19C>A (n.633+19C>A) | gnomAD v4 |
| X | g.641106C= | CA2411389886 | SHOX | c.633+19C= (n.633+19C=) | |
| X | g.641106C>T | CA640121479 | SHOX | c.633+19C>T (n.633+19C>T) | dbSNP gnomAD v2 |
| X | g.641108C= | CA2411389887 | SHOX | c.633+21C= (n.633+21C=) | |
| X | g.641108C>T | CA640121480 | SHOX | c.633+21C>T (n.633+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641109T>G | CA2411389889 | SHOX | c.633+22T>G (n.633+22T>G) | dbSNP gnomAD v4 |
| X | g.641109T= | CA2411389888 | SHOX | c.633+22T= (n.633+22T=) | |
| X | g.641110G>A | CA640121482 | SHOX | c.633+23G>A (n.633+23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641110G= | CA2411389890 | SHOX | c.633+23G= (n.633+23G=) | |
| X | g.641112A>C | CA2692951867 | SHOX | c.633+25A>C (n.633+25A>C) | gnomAD v4 |
| X | g.641113G>A | CA2692951868 | SHOX | c.633+26G>A (n.633+26G>A) | gnomAD v4 |
| X | g.641114A>T | CA2819363457 | SHOX | c.633+27A>T (n.633+27A>T) | |
| X | g.641115T>G | CA10330083 | SHOX | c.633+28T>G (n.633+28T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641115T= | CA2411389891 | SHOX | c.633+28T= (n.633+28T=) | |
| X | g.641118del | CA2692951869 | SHOX | c.633+31del (n.633+31del) | gnomAD v4 |
| X | g.641117C>A | CA10330084 | SHOX | c.633+30C>A (n.633+30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641117C= | CA2411389892 | SHOX | c.633+30C= (n.633+30C=) | |
| X | g.641117C>T | CA1130295133 | SHOX | c.633+30C>T (n.633+30C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641118C>T | CA2692951870 | SHOX | c.633+31C>T (n.633+31C>T) | gnomAD v4 |
| X | g.641119T>C | CA2692951871 | SHOX | c.633+32T>C (n.633+32T>C) | gnomAD v4 |
| X | g.641119T>G | CA10330085 | SHOX | c.633+32T>G (n.633+32T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641119T= | CA2411389893 | SHOX | c.633+32T= (n.633+32T=) | |
| X | g.641120A= | CA2411389894 | SHOX | c.633+33A= (n.633+33A=) | |
| X | g.641120A>C | CA2692951872 | SHOX | c.633+33A>C (n.633+33A>C) | gnomAD v4 |
| X | g.641120A>G | CA10330086 | SHOX | c.633+33A>G (n.633+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641121G>A | CA2579539648 | SHOX | c.633+34G>A (n.633+34G>A) | |
| X | g.641123G>A | CA10330087 | SHOX | c.633+36G>A (n.633+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641123G= | CA2411389895 | SHOX | c.633+36G= (n.633+36G=) | |
| X | g.641123G>T | CA2692951873 | SHOX | c.633+36G>T (n.633+36G>T) | gnomAD v4 |
| X | g.641124A= | CA2411389896 | SHOX | c.633+37A= (n.633+37A=) | |
| X | g.641124A>C | CA10330088 | SHOX | c.633+37A>C (n.633+37A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641125C= | CA2411389897 | SHOX | c.633+38C= (n.633+38C=) | |
| X | g.641125C>T | CA877166605 | SHOX | c.633+38C>T (n.633+38C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641126C>A | CA2579539649 | SHOX | c.633+39C>A (n.633+39C>A) | |
| X | g.641126C= | CA2411389898 | SHOX | c.633+39C= (n.633+39C=) | |
| X | g.641126C>G | CA877166606 | SHOX | c.633+39C>G (n.633+39C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641126C>T | CA2692951874 | SHOX | c.633+39C>T (n.633+39C>T) | gnomAD v4 |
| X | g.641127T>A | CA2579539650 | SHOX | c.633+40T>A (n.633+40T>A) | |
| X | g.641131G>A | CA2579539651 | SHOX | c.633+44G>A (n.633+44G>A) | gnomAD v4 |
| X | g.641131G>T | CA2692951875 | SHOX | c.633+44G>T (n.633+44G>T) | gnomAD v4 |
| X | g.641132C>A | CA2692951876 | SHOX | c.633+45C>A (n.633+45C>A) | gnomAD v4 |
| X | g.641132C= | CA2411389899 | SHOX | c.633+45C= (n.633+45C=) | |
| X | g.641132C>T | CA640121491 | SHOX | c.633+45C>T (n.633+45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641134C>A | CA2579539652 | SHOX | c.633+47C>A (n.633+47C>A) | |
| X | g.641136C>A | CA2579539653 | SHOX | c.633+49C>A (n.633+49C>A) | gnomAD v4 |
| X | g.641136C= | CA2411389900 | SHOX | c.633+49C= (n.633+49C=) | |
| X | g.641136C>T | CA640121493 | SHOX | c.633+49C>T (n.633+49C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641137T>C | CA2411389902 | SHOX | c.633+50T>C (n.633+50T>C) | dbSNP gnomAD v4 |
| X | g.641137T= | CA2411389901 | SHOX | c.633+50T= (n.633+50T=) | |
| X | g.641138del | CA2692951877 | SHOX | c.633+51del (n.633+51del) | gnomAD v4 |
| X | g.641138T>A | CA2579539654 | SHOX | c.633+51T>A (n.633+51T>A) | |
| X | g.641138T>C | CA2692951878 | SHOX | c.633+51T>C (n.633+51T>C) | gnomAD v4 |
| X | g.641139C>T | CA2692951879 | SHOX | c.633+52C>T (n.633+52C>T) | gnomAD v4 |
| X | g.641140C= | CA2411389903 | SHOX | c.633+53C= (n.633+53C=) | |
| X | g.641140C>G | CA325623558 | SHOX | c.633+53C>G (n.633+53C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641141C>T | CA2590174523 | SHOX | c.633+54C>T (n.633+54C>T) | gnomAD v3 gnomAD v4 |
| X | g.641142C>A | CA2579539655 | SHOX | c.633+55C>A (n.633+55C>A) | |
| X | g.641142C>G | CA2692951880 | SHOX | c.633+55C>G (n.633+55C>G) | gnomAD v4 |
| X | g.641146C= | CA2411389904 | SHOX | c.633+59C= (n.633+59C=) | |
| X | g.641146C>G | CA325623562 | SHOX | c.633+59C>G (n.633+59C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641146C>T | CA2692951881 | SHOX | c.633+59C>T (n.633+59C>T) | gnomAD v4 |
| X | g.641147C>A | CA2692951882 | SHOX | c.633+60C>A (n.633+60C>A) | gnomAD v4 |
| X | g.641147C>T | CA2692951883 | SHOX | c.633+60C>T (n.633+60C>T) | gnomAD v4 |
| X | g.641148C= | CA2411389905 | SHOX | c.633+61C= (n.633+61C=) | |
| X | g.641148C>G | CA2819363458 | SHOX | c.633+61C>G (n.633+61C>G) | |
| X | g.641148C>T | CA640121497 | SHOX | c.633+61C>T (n.633+61C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641149C>A | CA2819363459 | SHOX | c.633+62C>A (n.633+62C>A) | |
| X | g.641149C= | CA2411389906 | SHOX | c.633+62C= (n.633+62C=) | |
| X | g.641149C>G | CA2692951884 | SHOX | c.633+62C>G (n.633+62C>G) | gnomAD v4 |
| X | g.641150T>A | CA2692951885 | SHOX | c.633+63T>A (n.633+63T>A) | gnomAD v4 |
| X | g.641151_641152dup | CA1130295143 | SHOX | c.633+64_633+65dup (n.633+64_633+65dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641151A= | CA2411389907 | SHOX | c.633+64A= (n.633+64A=) | |
| X | g.641151A>G | CA877166611 | SHOX | c.633+64A>G (n.633+64A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641152T>C | CA2692951886 | SHOX | c.633+65T>C (n.633+65T>C) | gnomAD v4 |
| X | g.641155G>T | CA2692951887 | SHOX | c.633+68G>T (n.633+68G>T) | gnomAD v4 |
| X | g.641156C>A | CA2579539656 | SHOX | c.633+69C>A (n.633+69C>A) | |
| X | g.641156C= | CA2411389908 | SHOX | c.633+69C= (n.633+69C=) | |
| X | g.641156C>T | CA877166617 | SHOX | c.633+69C>T (n.633+69C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641159C>A | CA2579539657 | SHOX | c.633+72C>A (n.633+72C>A) | gnomAD v4 |
| X | g.641159C= | CA2411389909 | SHOX | c.633+72C= (n.633+72C=) | |
| X | g.641159C>T | CA1130295149 | SHOX | c.633+72C>T (n.633+72C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641160C>A | CA1130295152 | SHOX | c.633+73C>A (n.633+73C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641160C= | CA2411389910 | SHOX | c.633+73C= (n.633+73C=) | |
| X | g.641160C>G | CA877166620 | SHOX | c.633+73C>G (n.633+73C>G) | dbSNP gnomAD v4 |
| X | g.641160C>T | CA325623565 | SHOX | c.633+73C>T (n.633+73C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641161G>A | CA325623566 | SHOX | c.633+74G>A (n.633+74G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641161G= | CA2411389911 | SHOX | c.633+74G= (n.633+74G=) | |
| X | g.641161G>T | CA877166623 | SHOX | c.633+74G>T (n.633+74G>T) | dbSNP gnomAD v4 |
| X | g.641162C>A | CA640121499 | SHOX | c.633+75C>A (n.633+75C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641162C= | CA2411389912 | SHOX | c.633+75C= (n.633+75C=) | |
| X | g.641162C>T | CA325623570 | SHOX | c.633+75C>T (n.633+75C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641163A= | CA2411389913 | SHOX | c.633+76A= (n.633+76A=) | |
| X | g.641163A>G | CA2411389914 | SHOX | c.633+76A>G (n.633+76A>G) | dbSNP |
| X | g.641164T>C | CA877166630 | SHOX | c.633+77T>C (n.633+77T>C) | dbSNP gnomAD v4 |
| X | g.641164T= | CA2411389915 | SHOX | c.633+77T= (n.633+77T=) | |
| X | g.641165C>A | CA2579539658 | SHOX | c.633+78C>A (n.633+78C>A) | |
| X | g.641165C= | CA2411389916 | SHOX | c.633+78C= (n.633+78C=) | |
| X | g.641165C>T | CA640121506 | SHOX | c.633+78C>T (n.633+78C>T) | dbSNP gnomAD v2 |
| X | g.641167T>C | CA2692951888 | SHOX | c.633+80T>C (n.633+80T>C) | gnomAD v4 |
| X | g.641168G>C | CA2692951889 | SHOX | c.633+81G>C (n.633+81G>C) | gnomAD v4 |
| X | g.641170C>A | CA2579539659 | SHOX | c.633+83C>A (n.633+83C>A) | gnomAD v4 |
| X | g.641170C= | CA2411389917 | SHOX | c.633+83C= (n.633+83C=) | |
| X | g.641170C>G | CA877166631 | SHOX | c.633+83C>G (n.633+83C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641170C>T | CA640121508 | SHOX | c.633+83C>T (n.633+83C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |