| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51141134G>A | CA8053341 | SALL1 | c.1088C>T (p.Ser363Phe) c.797C>T (p.Ser266Phe) c.77-3582C>T (n.77-3582C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141134G>C | CA395889622 | SALL1 | c.1088C>G (p.Ser363Cys) c.797C>G (p.Ser266Cys) c.77-3582C>G (n.77-3582C>G) | |
| 16 | g.51141134G= | CA2222021482 | SALL1 | c.1088C= (p.Ser363=) c.797C= (p.Ser266=) c.77-3582C= (n.77-3582C=) | |
| 16 | g.51141134G>T | CA395889624 | SALL1 | c.1088C>A (p.Ser363Tyr) c.797C>A (p.Ser266Tyr) c.77-3582C>A (n.77-3582C>A) | |
| 16 | g.51141135A>C | CA395889626 | SALL1 | c.1087T>G (p.Ser363Ala) c.796T>G (p.Ser266Ala) c.77-3583T>G (n.77-3583T>G) | |
| 16 | g.51141135A>G | CA395889627 | SALL1 | c.1087T>C (p.Ser363Pro) c.796T>C (p.Ser266Pro) c.77-3583T>C (n.77-3583T>C) | |
| 16 | g.51141135A>T | CA395889630 | SALL1 | c.1087T>A (p.Ser363Thr) c.796T>A (p.Ser266Thr) c.77-3583T>A (n.77-3583T>A) | |
| 16 | g.51141136G>A | CA8053342 | SALL1 | c.1086C>T (p.Ala362=) c.795C>T (p.Ala265=) c.77-3584C>T (n.77-3584C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141136G>C | CA495781113 | SALL1 | c.1086C>G (p.Ala362=) c.795C>G (p.Ala265=) c.77-3584C>G (n.77-3584C>G) | |
| 16 | g.51141136G= | CA2222021484 | SALL1 | c.1086C= (p.Ala362=) c.795C= (p.Ala265=) c.77-3584C= (n.77-3584C=) | |
| 16 | g.51141136G>T | CA495781114 | SALL1 | c.1086C>A (p.Ala362=) c.795C>A (p.Ala265=) c.77-3584C>A (n.77-3584C>A) | |
| 16 | g.51141137G>A | CA395889632 | SALL1 | c.1085C>T (p.Ala362Val) c.794C>T (p.Ala265Val) c.77-3585C>T (n.77-3585C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141137G>C | CA395889636 | SALL1 | c.1085C>G (p.Ala362Gly) c.794C>G (p.Ala265Gly) c.77-3585C>G (n.77-3585C>G) | |
| 16 | g.51141137G= | CA2222021490 | SALL1 | c.1085C= (p.Ala362=) c.794C= (p.Ala265=) c.77-3585C= (n.77-3585C=) | |
| 16 | g.51141137G>T | CA8053343 | SALL1 | c.1085C>A (p.Ala362Asp) c.794C>A (p.Ala265Asp) c.77-3585C>A (n.77-3585C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141137_51141138del | CA2695223391 | SALL1 | c.1084_1085del (p.Ala362LeufsTer27) c.793_794del (p.Ala265LeufsTer27) c.77-3586_77-3585del (n.77-3586_77-3585del) | |
| 16 | g.51141138C>A | CA395889641 | SALL1 | c.1084G>T (p.Ala362Ser) c.793G>T (p.Ala265Ser) c.77-3586G>T (n.77-3586G>T) | |
| 16 | g.51141138C>G | CA395889644 | SALL1 | c.1084G>C (p.Ala362Pro) c.793G>C (p.Ala265Pro) c.77-3586G>C (n.77-3586G>C) | |
| 16 | g.51141138C>T | CA395889645 | SALL1 | c.1084G>A (p.Ala362Thr) c.793G>A (p.Ala265Thr) c.77-3586G>A (n.77-3586G>A) | |
| 16 | g.51141139C>A | CA495781118 | SALL1 | c.1083G>T (p.Gly361=) c.792G>T (p.Gly264=) c.77-3587G>T (n.77-3587G>T) | |
| 16 | g.51141139C>G | CA495781120 | SALL1 | c.1083G>C (p.Gly361=) c.792G>C (p.Gly264=) c.77-3587G>C (n.77-3587G>C) | |
| 16 | g.51141139C>T | CA495781121 | SALL1 | c.1083G>A (p.Gly361=) c.792G>A (p.Gly264=) c.77-3587G>A (n.77-3587G>A) | |
| 16 | g.51141140C>A | CA395889648 | SALL1 | c.1082G>T (p.Gly361Val) c.791G>T (p.Gly264Val) c.77-3588G>T (n.77-3588G>T) | |
| 16 | g.51141140C>G | CA395889650 | SALL1 | c.1082G>C (p.Gly361Ala) c.791G>C (p.Gly264Ala) c.77-3588G>C (n.77-3588G>C) | |
| 16 | g.51141140C>T | CA395889652 | SALL1 | c.1082G>A (p.Gly361Glu) c.791G>A (p.Gly264Glu) c.77-3588G>A (n.77-3588G>A) | |
| 16 | g.51141141C>A | CA395889654 | SALL1 | c.1081G>T (p.Gly361Trp) c.790G>T (p.Gly264Trp) c.77-3589G>T (n.77-3589G>T) | |
| 16 | g.51141141C>G | CA395889656 | SALL1 | c.1081G>C (p.Gly361Arg) c.790G>C (p.Gly264Arg) c.77-3589G>C (n.77-3589G>C) | |
| 16 | g.51141141C>T | CA395889659 | SALL1 | c.1081G>A (p.Gly361Arg) c.790G>A (p.Gly264Arg) c.77-3589G>A (n.77-3589G>A) | |
| 16 | g.51141142A>C | CA495781127 | SALL1 | c.1080T>G (p.Ala360=) c.789T>G (p.Ala263=) c.77-3590T>G (n.77-3590T>G) | |
| 16 | g.51141142A>G | CA495781125 | SALL1 | c.1080T>C (p.Ala360=) c.789T>C (p.Ala263=) c.77-3590T>C (n.77-3590T>C) | |
| 16 | g.51141142A>T | CA495781124 | SALL1 | c.1080T>A (p.Ala360=) c.789T>A (p.Ala263=) c.77-3590T>A (n.77-3590T>A) | |
| 16 | g.51141143G>A | CA395889666 | SALL1 | c.1079C>T (p.Ala360Val) c.788C>T (p.Ala263Val) c.77-3591C>T (n.77-3591C>T) | gnomAD v4 |
| 16 | g.51141143G>C | CA395889663 | SALL1 | c.1079C>G (p.Ala360Gly) c.788C>G (p.Ala263Gly) c.77-3591C>G (n.77-3591C>G) | |
| 16 | g.51141143G>T | CA395889662 | SALL1 | c.1079C>A (p.Ala360Asp) c.788C>A (p.Ala263Asp) c.77-3591C>A (n.77-3591C>A) | |
| 16 | g.51141144C>A | CA395889668 | SALL1 | c.1078G>T (p.Ala360Ser) c.787G>T (p.Ala263Ser) c.77-3592G>T (n.77-3592G>T) | |
| 16 | g.51141144C= | CA2222021496 | SALL1 | c.1078G= (p.Ala360=) c.787G= (p.Ala263=) c.77-3592G= (n.77-3592G=) | |
| 16 | g.51141144C>G | CA395889670 | SALL1 | c.1078G>C (p.Ala360Pro) c.787G>C (p.Ala263Pro) c.77-3592G>C (n.77-3592G>C) | |
| 16 | g.51141144C>T | CA395889673 | SALL1 | c.1078G>A (p.Ala360Thr) c.787G>A (p.Ala263Thr) c.77-3592G>A (n.77-3592G>A) | dbSNP |
| 16 | g.51141145A>C | CA395889675 | SALL1 | c.1077T>G (p.Ser359Arg) c.786T>G (p.Ser262Arg) c.77-3593T>G (n.77-3593T>G) | |
| 16 | g.51141145A>G | CA495781129 | SALL1 | c.1077T>C (p.Ser359=) c.786T>C (p.Ser262=) c.77-3593T>C (n.77-3593T>C) | |
| 16 | g.51141145A>T | CA395889677 | SALL1 | c.1077T>A (p.Ser359Arg) c.786T>A (p.Ser262Arg) c.77-3593T>A (n.77-3593T>A) | |
| 16 | g.51141146C>A | CA395889680 | SALL1 | c.1076G>T (p.Ser359Ile) c.785G>T (p.Ser262Ile) c.77-3594G>T (n.77-3594G>T) | |
| 16 | g.51141146C>G | CA395889681 | SALL1 | c.1076G>C (p.Ser359Thr) c.785G>C (p.Ser262Thr) c.77-3594G>C (n.77-3594G>C) | |
| 16 | g.51141146C>T | CA395889682 | SALL1 | c.1076G>A (p.Ser359Asn) c.785G>A (p.Ser262Asn) c.77-3594G>A (n.77-3594G>A) | |
| 16 | g.51141147T>A | CA395889685 | SALL1 | c.1075A>T (p.Ser359Cys) c.784A>T (p.Ser262Cys) c.77-3595A>T (n.77-3595A>T) | |
| 16 | g.51141147T>C | CA395889686 | SALL1 | c.1075A>G (p.Ser359Gly) c.784A>G (p.Ser262Gly) c.77-3595A>G (n.77-3595A>G) | |
| 16 | g.51141147T>G | CA395889689 | SALL1 | c.1075A>C (p.Ser359Arg) c.784A>C (p.Ser262Arg) c.77-3595A>C (n.77-3595A>C) | |
| 16 | g.51141148T>A | CA495781133 | SALL1 | c.1074A>T (p.Ser358=) c.783A>T (p.Ser261=) c.77-3596A>T (n.77-3596A>T) | |
| 16 | g.51141148T>C | CA495781135 | SALL1 | c.1074A>G (p.Ser358=) c.783A>G (p.Ser261=) c.77-3596A>G (n.77-3596A>G) | gnomAD v4 |
| 16 | g.51141148T>G | CA495781134 | SALL1 | c.1074A>C (p.Ser358=) c.783A>C (p.Ser261=) c.77-3596A>C (n.77-3596A>C) | gnomAD v4 |
| 16 | g.51141149G>A | CA395889698 | SALL1 | c.1073C>T (p.Ser358Leu) c.782C>T (p.Ser261Leu) c.77-3597C>T (n.77-3597C>T) | COSMIC |
| 16 | g.51141149G>C | CA395889695 | SALL1 | c.1073C>G (p.Ser358Ter) c.782C>G (p.Ser261Ter) c.77-3597C>G (n.77-3597C>G) | |
| 16 | g.51141149G>T | CA395889693 | SALL1 | c.1073C>A (p.Ser358Ter) c.782C>A (p.Ser261Ter) c.77-3597C>A (n.77-3597C>A) | |
| 16 | g.51141150A>C | CA395889699 | SALL1 | c.1072T>G (p.Ser358Ala) c.781T>G (p.Ser261Ala) c.77-3598T>G (n.77-3598T>G) | |
| 16 | g.51141150A>G | CA395889701 | SALL1 | c.1072T>C (p.Ser358Pro) c.781T>C (p.Ser261Pro) c.77-3598T>C (n.77-3598T>C) | |
| 16 | g.51141150A>T | CA395889703 | SALL1 | c.1072T>A (p.Ser358Thr) c.781T>A (p.Ser261Thr) c.77-3598T>A (n.77-3598T>A) | |
| 16 | g.51141151A>C | CA495781136 | SALL1 | c.1071T>G (p.Ala357=) c.780T>G (p.Ala260=) c.77-3599T>G (n.77-3599T>G) | |
| 16 | g.51141151A>G | CA495781137 | SALL1 | c.1071T>C (p.Ala357=) c.780T>C (p.Ala260=) c.77-3599T>C (n.77-3599T>C) | |
| 16 | g.51141151A>T | CA495781138 | SALL1 | c.1071T>A (p.Ala357=) c.780T>A (p.Ala260=) c.77-3599T>A (n.77-3599T>A) | |
| 16 | g.51141152G>A | CA395889705 | SALL1 | c.1070C>T (p.Ala357Val) c.779C>T (p.Ala260Val) c.77-3600C>T (n.77-3600C>T) | |
| 16 | g.51141152G>C | CA395889707 | SALL1 | c.1070C>G (p.Ala357Gly) c.779C>G (p.Ala260Gly) c.77-3600C>G (n.77-3600C>G) | |
| 16 | g.51141152G>T | CA395889709 | SALL1 | c.1070C>A (p.Ala357Asp) c.779C>A (p.Ala260Asp) c.77-3600C>A (n.77-3600C>A) | |
| 16 | g.51141153C>A | CA395889712 | SALL1 | c.1069G>T (p.Ala357Ser) c.778G>T (p.Ala260Ser) c.77-3601G>T (n.77-3601G>T) | |
| 16 | g.51141153C>G | CA395889715 | SALL1 | c.1069G>C (p.Ala357Pro) c.778G>C (p.Ala260Pro) c.77-3601G>C (n.77-3601G>C) | gnomAD v4 |
| 16 | g.51141153C>T | CA395889716 | SALL1 | c.1069G>A (p.Ala357Thr) c.778G>A (p.Ala260Thr) c.77-3601G>A (n.77-3601G>A) | ClinVar dbSNP |
| 16 | g.51141154C>A | CA495781142 | SALL1 | c.1068G>T (p.Val356=) c.777G>T (p.Val259=) c.77-3602G>T (n.77-3602G>T) | |
| 16 | g.51141154C>G | CA495781141 | SALL1 | c.1068G>C (p.Val356=) c.777G>C (p.Val259=) c.77-3602G>C (n.77-3602G>C) | |
| 16 | g.51141154C>T | CA495781144 | SALL1 | c.1068G>A (p.Val356=) c.777G>A (p.Val259=) c.77-3602G>A (n.77-3602G>A) | |
| 16 | g.51141155A= | CA2222021500 | SALL1 | c.1067T= (p.Val356=) c.776T= (p.Val259=) c.77-3603T= (n.77-3603T=) | |
| 16 | g.51141155A>C | CA395889718 | SALL1 | c.1067T>G (p.Val356Gly) c.776T>G (p.Val259Gly) c.77-3603T>G (n.77-3603T>G) | |
| 16 | g.51141155A>G | CA395889721 | SALL1 | c.1067T>C (p.Val356Ala) c.776T>C (p.Val259Ala) c.77-3603T>C (n.77-3603T>C) | dbSNP |
| 16 | g.51141155A>T | CA395889722 | SALL1 | c.1067T>A (p.Val356Glu) c.776T>A (p.Val259Glu) c.77-3603T>A (n.77-3603T>A) | |
| 16 | g.51141156C>A | CA395889726 | SALL1 | c.1066G>T (p.Val356Leu) c.775G>T (p.Val259Leu) c.77-3604G>T (n.77-3604G>T) | |
| 16 | g.51141156C= | CA2222021507 | SALL1 | c.1066G= (p.Val356=) c.775G= (p.Val259=) c.77-3604G= (n.77-3604G=) | |
| 16 | g.51141156C>G | CA395889728 | SALL1 | c.1066G>C (p.Val356Leu) c.775G>C (p.Val259Leu) c.77-3604G>C (n.77-3604G>C) | COSMIC |
| 16 | g.51141156C>T | CA395889724 | SALL1 | c.1066G>A (p.Val356Met) c.775G>A (p.Val259Met) c.77-3604G>A (n.77-3604G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141157T>A | CA395889734 | SALL1 | c.1065A>T (p.Lys355Asn) c.774A>T (p.Lys258Asn) c.77-3605A>T (n.77-3605A>T) | |
| 16 | g.51141157T>C | CA495781146 | SALL1 | c.1065A>G (p.Lys355=) c.774A>G (p.Lys258=) c.77-3605A>G (n.77-3605A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141157T>G | CA395889731 | SALL1 | c.1065A>C (p.Lys355Asn) c.774A>C (p.Lys258Asn) c.77-3605A>C (n.77-3605A>C) | |
| 16 | g.51141157T= | CA2222021513 | SALL1 | c.1065A= (p.Lys355=) c.774A= (p.Lys258=) c.77-3605A= (n.77-3605A=) | |
| 16 | g.51141161dup | CA2695223392 | SALL1 | c.1065dup (p.Val356SerfsTer?) c.774dup (p.Val259SerfsTer?) c.77-3605dup (n.77-3605dup) | |
| 16 | g.51141158T>A | CA395889736 | SALL1 | c.1064A>T (p.Lys355Ile) c.773A>T (p.Lys258Ile) c.77-3606A>T (n.77-3606A>T) | |
| 16 | g.51141158T>C | CA395889739 | SALL1 | c.1064A>G (p.Lys355Arg) c.773A>G (p.Lys258Arg) c.77-3606A>G (n.77-3606A>G) | |
| 16 | g.51141158T>G | CA395889741 | SALL1 | c.1064A>C (p.Lys355Thr) c.773A>C (p.Lys258Thr) c.77-3606A>C (n.77-3606A>C) | |
| 16 | g.51141159T>A | CA395889744 | SALL1 | c.1063A>T (p.Lys355Ter) c.772A>T (p.Lys258Ter) c.77-3607A>T (n.77-3607A>T) | |
| 16 | g.51141159T>C | CA395889745 | SALL1 | c.1063A>G (p.Lys355Glu) c.772A>G (p.Lys258Glu) c.77-3607A>G (n.77-3607A>G) | |
| 16 | g.51141159T>G | CA395889746 | SALL1 | c.1063A>C (p.Lys355Gln) c.772A>C (p.Lys258Gln) c.77-3607A>C (n.77-3607A>C) | |
| 16 | g.51141160T>A | CA395889748 | SALL1 | c.1062A>T (p.Glu354Asp) c.771A>T (p.Glu257Asp) c.77-3608A>T (n.77-3608A>T) | |
| 16 | g.51141160T>C | CA495781148 | SALL1 | c.1062A>G (p.Glu354=) c.771A>G (p.Glu257=) c.77-3608A>G (n.77-3608A>G) | |
| 16 | g.51141160T>G | CA395889751 | SALL1 | c.1062A>C (p.Glu354Asp) c.771A>C (p.Glu257Asp) c.77-3608A>C (n.77-3608A>C) | |
| 16 | g.51141161T>A | CA395889755 | SALL1 | c.1061A>T (p.Glu354Val) c.770A>T (p.Glu257Val) c.77-3609A>T (n.77-3609A>T) | |
| 16 | g.51141161T>C | CA395889758 | SALL1 | c.1061A>G (p.Glu354Gly) c.770A>G (p.Glu257Gly) c.77-3609A>G (n.77-3609A>G) | |
| 16 | g.51141161T>G | CA395889759 | SALL1 | c.1061A>C (p.Glu354Ala) c.770A>C (p.Glu257Ala) c.77-3609A>C (n.77-3609A>C) | |
| 16 | g.51141162C>A | CA395889763 | SALL1 | c.1060G>T (p.Glu354Ter) c.769G>T (p.Glu257Ter) c.77-3610G>T (n.77-3610G>T) | COSMIC |
| 16 | g.51141162C>G | CA395889765 | SALL1 | c.1060G>C (p.Glu354Gln) c.769G>C (p.Glu257Gln) c.77-3610G>C (n.77-3610G>C) | |
| 16 | g.51141162C>T | CA395889762 | SALL1 | c.1060G>A (p.Glu354Lys) c.769G>A (p.Glu257Lys) c.77-3610G>A (n.77-3610G>A) | |
| 16 | g.51141163A>C | CA495781151 | SALL1 | c.1059T>G (p.Ser353=) c.768T>G (p.Ser256=) c.77-3611T>G (n.77-3611T>G) | |
| 16 | g.51141163A>G | CA495781152 | SALL1 | c.1059T>C (p.Ser353=) c.768T>C (p.Ser256=) c.77-3611T>C (n.77-3611T>C) | |
| 16 | g.51141163A>T | CA495781153 | SALL1 | c.1059T>A (p.Ser353=) c.768T>A (p.Ser256=) c.77-3611T>A (n.77-3611T>A) | |
| 16 | g.51141164G>A | CA8053344 | SALL1 | c.1058C>T (p.Ser353Phe) c.767C>T (p.Ser256Phe) c.77-3612C>T (n.77-3612C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141164G>C | CA395889768 | SALL1 | c.1058C>G (p.Ser353Cys) c.767C>G (p.Ser256Cys) c.77-3612C>G (n.77-3612C>G) | |
| 16 | g.51141164G= | CA2222021518 | SALL1 | c.1058C= (p.Ser353=) c.767C= (p.Ser256=) c.77-3612C= (n.77-3612C=) | |
| 16 | g.51141164G>T | CA395889777 | SALL1 | c.1058C>A (p.Ser353Tyr) c.767C>A (p.Ser256Tyr) c.77-3612C>A (n.77-3612C>A) | |
| 16 | g.51141166_51141168del | CA2633181822 | SALL1 | c.1056_1058del (p.Ser353del) c.765_767del (p.Ser256del) c.77-3614_77-3612del (n.77-3614_77-3612del) | gnomAD v4 |
| 16 | g.51141165A= | CA2222021523 | SALL1 | c.1057T= (p.Ser353=) c.766T= (p.Ser256=) c.77-3613T= (n.77-3613T=) | |
| 16 | g.51141165A>C | CA395889779 | SALL1 | c.1057T>G (p.Ser353Ala) c.766T>G (p.Ser256Ala) c.77-3613T>G (n.77-3613T>G) | |
| 16 | g.51141165A>G | CA395889781 | SALL1 | c.1057T>C (p.Ser353Pro) c.766T>C (p.Ser256Pro) c.77-3613T>C (n.77-3613T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141165A>T | CA395889784 | SALL1 | c.1057T>A (p.Ser353Thr) c.766T>A (p.Ser256Thr) c.77-3613T>A (n.77-3613T>A) | |
| 16 | g.51141166G>A | CA8053345 | SALL1 | c.1056C>T (p.Ser352=) c.765C>T (p.Ser255=) c.77-3614C>T (n.77-3614C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141166G>C | CA495781161 | SALL1 | c.1056C>G (p.Ser352=) c.765C>G (p.Ser255=) c.77-3614C>G (n.77-3614C>G) | |
| 16 | g.51141166G= | CA2222021525 | SALL1 | c.1056C= (p.Ser352=) c.765C= (p.Ser255=) c.77-3614C= (n.77-3614C=) | |
| 16 | g.51141166G>T | CA495781162 | SALL1 | c.1056C>A (p.Ser352=) c.765C>A (p.Ser255=) c.77-3614C>A (n.77-3614C>A) | |
| 16 | g.51141167G>A | CA8053346 | SALL1 | c.1055C>T (p.Ser352Phe) c.764C>T (p.Ser255Phe) c.77-3615C>T (n.77-3615C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141167G>C | CA8053347 | SALL1 | c.1055C>G (p.Ser352Cys) c.764C>G (p.Ser255Cys) c.77-3615C>G (n.77-3615C>G) | dbSNP ExAC |
| 16 | g.51141167G= | CA2222021529 | SALL1 | c.1055C= (p.Ser352=) c.764C= (p.Ser255=) c.77-3615C= (n.77-3615C=) | |
| 16 | g.51141167G>T | CA395889792 | SALL1 | c.1055C>A (p.Ser352Tyr) c.764C>A (p.Ser255Tyr) c.77-3615C>A (n.77-3615C>A) | gnomAD v4 |
| 16 | g.51141168A>C | CA395889801 | SALL1 | c.1054T>G (p.Ser352Ala) c.763T>G (p.Ser255Ala) c.77-3616T>G (n.77-3616T>G) | |
| 16 | g.51141168A>G | CA395889802 | SALL1 | c.1054T>C (p.Ser352Pro) c.763T>C (p.Ser255Pro) c.77-3616T>C (n.77-3616T>C) | gnomAD v4 |
| 16 | g.51141168A>T | CA395889805 | SALL1 | c.1054T>A (p.Ser352Thr) c.763T>A (p.Ser255Thr) c.77-3616T>A (n.77-3616T>A) | gnomAD v4 |
| 16 | g.51141169C>A | CA495781164 | SALL1 | c.1053G>T (p.Pro351=) c.762G>T (p.Pro254=) c.77-3617G>T (n.77-3617G>T) | |
| 16 | g.51141169C= | CA2222021531 | SALL1 | c.1053G= (p.Pro351=) c.762G= (p.Pro254=) c.77-3617G= (n.77-3617G=) | |
| 16 | g.51141169C>G | CA495781165 | SALL1 | c.1053G>C (p.Pro351=) c.762G>C (p.Pro254=) c.77-3617G>C (n.77-3617G>C) | gnomAD v4 |
| 16 | g.51141169C>T | CA281302744 | SALL1 | c.1053G>A (p.Pro351=) c.762G>A (p.Pro254=) c.77-3617G>A (n.77-3617G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141170G>A | CA8053348 | SALL1 | c.1052C>T (p.Pro351Leu) c.761C>T (p.Pro254Leu) c.77-3618C>T (n.77-3618C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141170G>C | CA395889810 | SALL1 | c.1052C>G (p.Pro351Arg) c.761C>G (p.Pro254Arg) c.77-3618C>G (n.77-3618C>G) | |
| 16 | g.51141170G= | CA2222021538 | SALL1 | c.1052C= (p.Pro351=) c.761C= (p.Pro254=) c.77-3618C= (n.77-3618C=) | |
| 16 | g.51141170G>T | CA395889807 | SALL1 | c.1052C>A (p.Pro351Gln) c.761C>A (p.Pro254Gln) c.77-3618C>A (n.77-3618C>A) | |
| 16 | g.51141171G>A | CA395889814 | SALL1 | c.1051C>T (p.Pro351Ser) c.760C>T (p.Pro254Ser) c.77-3619C>T (n.77-3619C>T) | dbSNP gnomAD v4 COSMIC |
| 16 | g.51141171G>C | CA395889815 | SALL1 | c.1051C>G (p.Pro351Ala) c.760C>G (p.Pro254Ala) c.77-3619C>G (n.77-3619C>G) | |
| 16 | g.51141171G>T | CA395889816 | SALL1 | c.1051C>A (p.Pro351Thr) c.760C>A (p.Pro254Thr) c.77-3619C>A (n.77-3619C>A) | |
| 16 | g.51141172G>A | CA495781167 | SALL1 | c.1050C>T (p.Thr350=) c.759C>T (p.Thr253=) c.77-3620C>T (n.77-3620C>T) | dbSNP |
| 16 | g.51141172G>C | CA495781168 | SALL1 | c.1050C>G (p.Thr350=) c.759C>G (p.Thr253=) c.77-3620C>G (n.77-3620C>G) | |
| 16 | g.51141172G= | CA2222021540 | SALL1 | c.1050C= (p.Thr350=) c.759C= (p.Thr253=) c.77-3620C= (n.77-3620C=) | |
| 16 | g.51141172G>T | CA495781169 | SALL1 | c.1050C>A (p.Thr350=) c.759C>A (p.Thr253=) c.77-3620C>A (n.77-3620C>A) | |
| 16 | g.51141173G>A | CA8053349 | SALL1 | c.1049C>T (p.Thr350Ile) c.758C>T (p.Thr253Ile) c.77-3621C>T (n.77-3621C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141173G>C | CA395889820 | SALL1 | c.1049C>G (p.Thr350Ser) c.758C>G (p.Thr253Ser) c.77-3621C>G (n.77-3621C>G) | |
| 16 | g.51141173G= | CA2222021545 | SALL1 | c.1049C= (p.Thr350=) c.758C= (p.Thr253=) c.77-3621C= (n.77-3621C=) | |
| 16 | g.51141173G>T | CA395889823 | SALL1 | c.1049C>A (p.Thr350Asn) c.758C>A (p.Thr253Asn) c.77-3621C>A (n.77-3621C>A) | |
| 16 | g.51141174T>A | CA395889825 | SALL1 | c.1048A>T (p.Thr350Ser) c.757A>T (p.Thr253Ser) c.77-3622A>T (n.77-3622A>T) | |
| 16 | g.51141174T>C | CA395889827 | SALL1 | c.1048A>G (p.Thr350Ala) c.757A>G (p.Thr253Ala) c.77-3622A>G (n.77-3622A>G) | |
| 16 | g.51141174T>G | CA395889829 | SALL1 | c.1048A>C (p.Thr350Pro) c.757A>C (p.Thr253Pro) c.77-3622A>C (n.77-3622A>C) | |
| 16 | g.51141175G>A | CA495781177 | SALL1 | c.1047C>T (p.Thr349=) c.756C>T (p.Thr252=) c.77-3623C>T (n.77-3623C>T) | |
| 16 | g.51141175G>C | CA495781176 | SALL1 | c.1047C>G (p.Thr349=) c.756C>G (p.Thr252=) c.77-3623C>G (n.77-3623C>G) | |
| 16 | g.51141175G>T | CA495781175 | SALL1 | c.1047C>A (p.Thr349=) c.756C>A (p.Thr252=) c.77-3623C>A (n.77-3623C>A) | |
| 16 | g.51141176dup | CA2695223393 | SALL1 | c.1047dup (p.Thr350HisfsTer5) c.756dup (p.Thr253HisfsTer5) c.77-3623dup (n.77-3623dup) | |
| 16 | g.51141176G>A | CA8053350 | SALL1 | c.1046C>T (p.Thr349Ile) c.755C>T (p.Thr252Ile) c.77-3624C>T (n.77-3624C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141176G>C | CA395889832 | SALL1 | c.1046C>G (p.Thr349Ser) c.755C>G (p.Thr252Ser) c.77-3624C>G (n.77-3624C>G) | gnomAD v4 |
| 16 | g.51141176G= | CA2222021548 | SALL1 | c.1046C= (p.Thr349=) c.755C= (p.Thr252=) c.77-3624C= (n.77-3624C=) | |
| 16 | g.51141176G>T | CA395889834 | SALL1 | c.1046C>A (p.Thr349Asn) c.755C>A (p.Thr252Asn) c.77-3624C>A (n.77-3624C>A) | |
| 16 | g.51141177T>A | CA395889838 | SALL1 | c.1045A>T (p.Thr349Ser) c.754A>T (p.Thr252Ser) c.77-3625A>T (n.77-3625A>T) | dbSNP gnomAD v4 |
| 16 | g.51141177T>C | CA395889845 | SALL1 | c.1045A>G (p.Thr349Ala) c.754A>G (p.Thr252Ala) c.77-3625A>G (n.77-3625A>G) | gnomAD v4 |
| 16 | g.51141177T>G | CA395889837 | SALL1 | c.1045A>C (p.Thr349Pro) c.754A>C (p.Thr252Pro) c.77-3625A>C (n.77-3625A>C) | |
| 16 | g.51141177T= | CA2222021551 | SALL1 | c.1045A= (p.Thr349=) c.754A= (p.Thr252=) c.77-3625A= (n.77-3625A=) | |
| 16 | g.51141177dup | CA2695223395 | SALL1 | c.1045dup (p.Thr349AsnfsTer6) c.754dup (p.Thr252AsnfsTer6) c.77-3625dup (n.77-3625dup) | |
| 16 | g.51141178A= | CA2222021553 | SALL1 | c.1044T= (p.Val348=) c.753T= (p.Val251=) c.77-3626T= (n.77-3626T=) | |
| 16 | g.51141178A>C | CA495781182 | SALL1 | c.1044T>G (p.Val348=) c.753T>G (p.Val251=) c.77-3626T>G (n.77-3626T>G) | |
| 16 | g.51141178A>G | CA495781180 | SALL1 | c.1044T>C (p.Val348=) c.753T>C (p.Val251=) c.77-3626T>C (n.77-3626T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141178A>T | CA495781178 | SALL1 | c.1044T>A (p.Val348=) c.753T>A (p.Val251=) c.77-3626T>A (n.77-3626T>A) | |
| 16 | g.51141179A= | CA2222021557 | SALL1 | c.1043T= (p.Val348=) c.752T= (p.Val251=) c.77-3627T= (n.77-3627T=) | |
| 16 | g.51141179A>C | CA395889847 | SALL1 | c.1043T>G (p.Val348Gly) c.752T>G (p.Val251Gly) c.77-3627T>G (n.77-3627T>G) | |
| 16 | g.51141179A>G | CA395889849 | SALL1 | c.1043T>C (p.Val348Ala) c.752T>C (p.Val251Ala) c.77-3627T>C (n.77-3627T>C) | |
| 16 | g.51141179A>T | CA395889853 | SALL1 | c.1043T>A (p.Val348Asp) c.752T>A (p.Val251Asp) c.77-3627T>A (n.77-3627T>A) | |
| 16 | g.51141179_51141180insACC | CA281302751 | SALL1 | c.1042_1043insGGT (p.Val348delinsGlyPhe) c.751_752insGGT (p.Val251delinsGlyPhe) c.77-3628_77-3627insGGT (n.77-3628_77-3627insGGT) | dbSNP |
| 16 | g.51141180C>A | CA395889859 | SALL1 | c.1042G>T (p.Val348Phe) c.751G>T (p.Val251Phe) c.77-3628G>T (n.77-3628G>T) | |
| 16 | g.51141180C= | CA2222021567 | SALL1 | c.1042G= (p.Val348=) c.751G= (p.Val251=) c.77-3628G= (n.77-3628G=) | |
| 16 | g.51141180C>G | CA395889858 | SALL1 | c.1042G>C (p.Val348Leu) c.751G>C (p.Val251Leu) c.77-3628G>C (n.77-3628G>C) | |
| 16 | g.51141180C>T | CA395889856 | SALL1 | c.1042G>A (p.Val348Ile) c.751G>A (p.Val251Ile) c.77-3628G>A (n.77-3628G>A) | dbSNP gnomAD v2 |
| 16 | g.51141181T>A | CA495781184 | SALL1 | c.1041A>T (p.Ala347=) c.750A>T (p.Ala250=) c.77-3629A>T (n.77-3629A>T) | |
| 16 | g.51141181T>C | CA495781186 | SALL1 | c.1041A>G (p.Ala347=) c.750A>G (p.Ala250=) c.77-3629A>G (n.77-3629A>G) | |
| 16 | g.51141181T>G | CA495781185 | SALL1 | c.1041A>C (p.Ala347=) c.750A>C (p.Ala250=) c.77-3629A>C (n.77-3629A>C) | |
| 16 | g.51141182G>A | CA281302754 | SALL1 | c.1040C>T (p.Ala347Val) c.749C>T (p.Ala250Val) c.77-3630C>T (n.77-3630C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141182G>C | CA395889862 | SALL1 | c.1040C>G (p.Ala347Gly) c.749C>G (p.Ala250Gly) c.77-3630C>G (n.77-3630C>G) | |
| 16 | g.51141182G= | CA2222021578 | SALL1 | c.1040C= (p.Ala347=) c.749C= (p.Ala250=) c.77-3630C= (n.77-3630C=) | |
| 16 | g.51141182G>T | CA395889863 | SALL1 | c.1040C>A (p.Ala347Glu) c.749C>A (p.Ala250Glu) c.77-3630C>A (n.77-3630C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141183C>A | CA395889864 | SALL1 | c.1039G>T (p.Ala347Ser) c.748G>T (p.Ala250Ser) c.77-3631G>T (n.77-3631G>T) | |
| 16 | g.51141183C>G | CA395889865 | SALL1 | c.1039G>C (p.Ala347Pro) c.748G>C (p.Ala250Pro) c.77-3631G>C (n.77-3631G>C) | |
| 16 | g.51141183C>T | CA395889866 | SALL1 | c.1039G>A (p.Ala347Thr) c.748G>A (p.Ala250Thr) c.77-3631G>A (n.77-3631G>A) | gnomAD v4 |
| 16 | g.51141184C>A | CA495781189 | SALL1 | c.1038G>T (p.Ala346=) c.747G>T (p.Ala249=) c.77-3632G>T (n.77-3632G>T) | |
| 16 | g.51141184C= | CA2222021581 | SALL1 | c.1038G= (p.Ala346=) c.747G= (p.Ala249=) c.77-3632G= (n.77-3632G=) | |
| 16 | g.51141184C>G | CA495781191 | SALL1 | c.1038G>C (p.Ala346=) c.747G>C (p.Ala249=) c.77-3632G>C (n.77-3632G>C) | gnomAD v4 |
| 16 | g.51141184C>T | CA8053351 | SALL1 | c.1038G>A (p.Ala346=) c.747G>A (p.Ala249=) c.77-3632G>A (n.77-3632G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141185G>A | CA8053352 | SALL1 | c.1037C>T (p.Ala346Val) c.746C>T (p.Ala249Val) c.77-3633C>T (n.77-3633C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51141185G>C | CA395889871 | SALL1 | c.1037C>G (p.Ala346Gly) c.746C>G (p.Ala249Gly) c.77-3633C>G (n.77-3633C>G) | dbSNP gnomAD v2 |
| 16 | g.51141185G= | CA2222021587 | SALL1 | c.1037C= (p.Ala346=) c.746C= (p.Ala249=) c.77-3633C= (n.77-3633C=) | |
| 16 | g.51141185G>T | CA395889868 | SALL1 | c.1037C>A (p.Ala346Glu) c.746C>A (p.Ala249Glu) c.77-3633C>A (n.77-3633C>A) | |
| 16 | g.51141186C>A | CA395889873 | SALL1 | c.1036G>T (p.Ala346Ser) c.745G>T (p.Ala249Ser) c.77-3634G>T (n.77-3634G>T) | |
| 16 | g.51141186C>G | CA395889872 | SALL1 | c.1036G>C (p.Ala346Pro) c.745G>C (p.Ala249Pro) c.77-3634G>C (n.77-3634G>C) | |
| 16 | g.51141186C>T | CA395889876 | SALL1 | c.1036G>A (p.Ala346Thr) c.745G>A (p.Ala249Thr) c.77-3634G>A (n.77-3634G>A) | gnomAD v4 |
| 16 | g.51141187T>A | CA495781193 | SALL1 | c.1035A>T (p.Ala345=) c.744A>T (p.Ala248=) c.77-3635A>T (n.77-3635A>T) | |
| 16 | g.51141187T>C | CA495781194 | SALL1 | c.1035A>G (p.Ala345=) c.744A>G (p.Ala248=) c.77-3635A>G (n.77-3635A>G) | |
| 16 | g.51141187T>G | CA495781195 | SALL1 | c.1035A>C (p.Ala345=) c.744A>C (p.Ala248=) c.77-3635A>C (n.77-3635A>C) | |
| 16 | g.51141188G>A | CA395889878 | SALL1 | c.1034C>T (p.Ala345Val) c.743C>T (p.Ala248Val) c.77-3636C>T (n.77-3636C>T) | |
| 16 | g.51141188G>C | CA395889882 | SALL1 | c.1034C>G (p.Ala345Gly) c.743C>G (p.Ala248Gly) c.77-3636C>G (n.77-3636C>G) | |
| 16 | g.51141188G>T | CA395889881 | SALL1 | c.1034C>A (p.Ala345Glu) c.743C>A (p.Ala248Glu) c.77-3636C>A (n.77-3636C>A) | |
| 16 | g.51141189C>A | CA395889884 | SALL1 | c.1033G>T (p.Ala345Ser) c.742G>T (p.Ala248Ser) c.77-3637G>T (n.77-3637G>T) | |
| 16 | g.51141189C>G | CA395889885 | SALL1 | c.1033G>C (p.Ala345Pro) c.742G>C (p.Ala248Pro) c.77-3637G>C (n.77-3637G>C) | |
| 16 | g.51141189C>T | CA395889888 | SALL1 | c.1033G>A (p.Ala345Thr) c.742G>A (p.Ala248Thr) c.77-3637G>A (n.77-3637G>A) | gnomAD v4 |
| 16 | g.51141190C>A | CA395889890 | SALL1 | c.1032G>T (p.Leu344Phe) c.741G>T (p.Leu247Phe) c.77-3638G>T (n.77-3638G>T) | |
| 16 | g.51141190C= | CA2222021592 | SALL1 | c.1032G= (p.Leu344=) c.741G= (p.Leu247=) c.77-3638G= (n.77-3638G=) | |
| 16 | g.51141190C>G | CA395889892 | SALL1 | c.1032G>C (p.Leu344Phe) c.741G>C (p.Leu247Phe) c.77-3638G>C (n.77-3638G>C) | |
| 16 | g.51141190C>T | CA495781196 | SALL1 | c.1032G>A (p.Leu344=) c.741G>A (p.Leu247=) c.77-3638G>A (n.77-3638G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141191A>C | CA395889897 | SALL1 | c.1031T>G (p.Leu344Trp) c.740T>G (p.Leu247Trp) c.77-3639T>G (n.77-3639T>G) | |
| 16 | g.51141191A>G | CA395889899 | SALL1 | c.1031T>C (p.Leu344Ser) c.740T>C (p.Leu247Ser) c.77-3639T>C (n.77-3639T>C) | |
| 16 | g.51141191A>T | CA395889900 | SALL1 | c.1031T>A (p.Leu344Ter) c.740T>A (p.Leu247Ter) c.77-3639T>A (n.77-3639T>A) | |
| 16 | g.51141192A= | CA2222021594 | SALL1 | c.1030T= (p.Leu344=) c.739T= (p.Leu247=) c.77-3640T= (n.77-3640T=) | |
| 16 | g.51141192A>C | CA395889902 | SALL1 | c.1030T>G (p.Leu344Val) c.739T>G (p.Leu247Val) c.77-3640T>G (n.77-3640T>G) | |
| 16 | g.51141192A>G | CA495781202 | SALL1 | c.1030T>C (p.Leu344=) c.739T>C (p.Leu247=) c.77-3640T>C (n.77-3640T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141192A>T | CA395889903 | SALL1 | c.1030T>A (p.Leu344Met) c.739T>A (p.Leu247Met) c.77-3640T>A (n.77-3640T>A) | |
| 16 | g.51141194_51141195del | CA2695223396 | SALL1 | c.1029_1030del (p.Leu344GlyfsTer10) c.738_739del (p.Leu247GlyfsTer10) c.77-3641_77-3640del (n.77-3641_77-3640del) | |
| 16 | g.51141193T>A | CA495781204 | SALL1 | c.1029A>T (p.Ile343=) c.738A>T (p.Ile246=) c.77-3641A>T (n.77-3641A>T) | |
| 16 | g.51141193T>C | CA281302765 | SALL1 | c.1029A>G (p.Ile343Met) c.738A>G (p.Ile246Met) c.77-3641A>G (n.77-3641A>G) | dbSNP gnomAD v4 |
| 16 | g.51141193T>G | CA495781205 | SALL1 | c.1029A>C (p.Ile343=) c.738A>C (p.Ile246=) c.77-3641A>C (n.77-3641A>C) | |
| 16 | g.51141193T= | CA2222021597 | SALL1 | c.1029A= (p.Ile343=) c.738A= (p.Ile246=) c.77-3641A= (n.77-3641A=) | |
| 16 | g.51141194A= | CA2222021603 | SALL1 | c.1028T= (p.Ile343=) c.737T= (p.Ile246=) c.77-3642T= (n.77-3642T=) | |
| 16 | g.51141194A>C | CA395889914 | SALL1 | c.1028T>G (p.Ile343Arg) c.737T>G (p.Ile246Arg) c.77-3642T>G (n.77-3642T>G) | |
| 16 | g.51141194A>G | CA395889912 | SALL1 | c.1028T>C (p.Ile343Thr) c.737T>C (p.Ile246Thr) c.77-3642T>C (n.77-3642T>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141194A>T | CA395889906 | SALL1 | c.1028T>A (p.Ile343Lys) c.737T>A (p.Ile246Lys) c.77-3642T>A (n.77-3642T>A) | |
| 16 | g.51141194dup | CA2499223546 | SALL1 | c.1028dup (p.Leu344IlefsTer11) c.737dup (p.Leu247IlefsTer11) c.77-3642dup (n.77-3642dup) | ClinVar dbSNP |
| 16 | g.51141195T>A | CA395889917 | SALL1 | c.1027A>T (p.Ile343Leu) c.736A>T (p.Ile246Leu) c.77-3643A>T (n.77-3643A>T) | |
| 16 | g.51141195T>C | CA8053353 | SALL1 | c.1027A>G (p.Ile343Val) c.736A>G (p.Ile246Val) c.77-3643A>G (n.77-3643A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141195T>G | CA395889921 | SALL1 | c.1027A>C (p.Ile343Leu) c.736A>C (p.Ile246Leu) c.77-3643A>C (n.77-3643A>C) | |
| 16 | g.51141195T= | CA2222021610 | SALL1 | c.1027A= (p.Ile343=) c.736A= (p.Ile246=) c.77-3643A= (n.77-3643A=) | |
| 16 | g.51141195dup | CA2499223547 | SALL1 | c.1027dup (p.Ile343AsnfsTer12) c.736dup (p.Ile246AsnfsTer12) c.77-3643dup (n.77-3643dup) | ClinVar dbSNP |
| 16 | g.51141196G>A | CA495781207 | SALL1 | c.1026C>T (p.Asn342=) c.735C>T (p.Asn245=) c.77-3644C>T (n.77-3644C>T) | gnomAD v4 |
| 16 | g.51141196G>C | CA395889926 | SALL1 | c.1026C>G (p.Asn342Lys) c.735C>G (p.Asn245Lys) c.77-3644C>G (n.77-3644C>G) | |
| 16 | g.51141196G>T | CA395889927 | SALL1 | c.1026C>A (p.Asn342Lys) c.735C>A (p.Asn245Lys) c.77-3644C>A (n.77-3644C>A) | |
| 16 | g.51141197T>A | CA395889934 | SALL1 | c.1025A>T (p.Asn342Ile) c.734A>T (p.Asn245Ile) c.77-3645A>T (n.77-3645A>T) | |
| 16 | g.51141197T>C | CA395889935 | SALL1 | c.1025A>G (p.Asn342Ser) c.734A>G (p.Asn245Ser) c.77-3645A>G (n.77-3645A>G) | |
| 16 | g.51141197T>G | CA10603945 | SALL1 | c.1025A>C (p.Asn342Thr) c.734A>C (p.Asn245Thr) c.77-3645A>C (n.77-3645A>C) | ClinVar dbSNP |
| 16 | g.51141197T= | CA2222021618 | SALL1 | c.1025A= (p.Asn342=) c.734A= (p.Asn245=) c.77-3645A= (n.77-3645A=) | |
| 16 | g.51141198T>A | CA395889937 | SALL1 | c.1024A>T (p.Asn342Tyr) c.733A>T (p.Asn245Tyr) c.77-3646A>T (n.77-3646A>T) | |
| 16 | g.51141198T>C | CA395889938 | SALL1 | c.1024A>G (p.Asn342Asp) c.733A>G (p.Asn245Asp) c.77-3646A>G (n.77-3646A>G) | |
| 16 | g.51141198T>G | CA395889940 | SALL1 | c.1024A>C (p.Asn342His) c.733A>C (p.Asn245His) c.77-3646A>C (n.77-3646A>C) | |
| 16 | g.51141199C>A | CA395889947 | SALL1 | c.1023G>T (p.Met341Ile) c.732G>T (p.Met244Ile) c.77-3647G>T (n.77-3647G>T) | COSMIC |
| 16 | g.51141199C>G | CA395889946 | SALL1 | c.1023G>C (p.Met341Ile) c.732G>C (p.Met244Ile) c.77-3647G>C (n.77-3647G>C) | |
| 16 | g.51141199C>T | CA395889944 | SALL1 | c.1023G>A (p.Met341Ile) c.732G>A (p.Met244Ile) c.77-3647G>A (n.77-3647G>A) | COSMIC |
| 16 | g.51141200A= | CA2222021626 | SALL1 | c.1022T= (p.Met341=) c.731T= (p.Met244=) c.77-3648T= (n.77-3648T=) | |
| 16 | g.51141200A>C | CA395889948 | SALL1 | c.1022T>G (p.Met341Arg) c.731T>G (p.Met244Arg) c.77-3648T>G (n.77-3648T>G) | |
| 16 | g.51141200A>G | CA395889949 | SALL1 | c.1022T>C (p.Met341Thr) c.731T>C (p.Met244Thr) c.77-3648T>C (n.77-3648T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141200A>T | CA395889950 | SALL1 | c.1022T>A (p.Met341Lys) c.731T>A (p.Met244Lys) c.77-3648T>A (n.77-3648T>A) | |
| 16 | g.51141201T>A | CA395889951 | SALL1 | c.1021A>T (p.Met341Leu) c.730A>T (p.Met244Leu) c.77-3649A>T (n.77-3649A>T) | |
| 16 | g.51141201T>C | CA395889953 | SALL1 | c.1021A>G (p.Met341Val) c.730A>G (p.Met244Val) c.77-3649A>G (n.77-3649A>G) | |
| 16 | g.51141201T>G | CA395889955 | SALL1 | c.1021A>C (p.Met341Leu) c.730A>C (p.Met244Leu) c.77-3649A>C (n.77-3649A>C) | |
| 16 | g.51141202A= | CA2222021633 | SALL1 | c.1020T= (p.Asn340=) c.729T= (p.Asn243=) c.77-3650T= (n.77-3650T=) | |
| 16 | g.51141202A>C | CA395889957 | SALL1 | c.1020T>G (p.Asn340Lys) c.729T>G (p.Asn243Lys) c.77-3650T>G (n.77-3650T>G) | |
| 16 | g.51141202A>G | CA8053354 | SALL1 | c.1020T>C (p.Asn340=) c.729T>C (p.Asn243=) c.77-3650T>C (n.77-3650T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141202A>T | CA395889961 | SALL1 | c.1020T>A (p.Asn340Lys) c.729T>A (p.Asn243Lys) c.77-3650T>A (n.77-3650T>A) | |
| 16 | g.51141203T>A | CA395889965 | SALL1 | c.1019A>T (p.Asn340Ile) c.728A>T (p.Asn243Ile) c.77-3651A>T (n.77-3651A>T) | |
| 16 | g.51141203T>C | CA8053355 | SALL1 | c.1019A>G (p.Asn340Ser) c.728A>G (p.Asn243Ser) c.77-3651A>G (n.77-3651A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141203T>G | CA395889968 | SALL1 | c.1019A>C (p.Asn340Thr) c.728A>C (p.Asn243Thr) c.77-3651A>C (n.77-3651A>C) | |
| 16 | g.51141203T= | CA2222021636 | SALL1 | c.1019A= (p.Asn340=) c.728A= (p.Asn243=) c.77-3651A= (n.77-3651A=) | |
| 16 | g.51141204T>A | CA395889973 | SALL1 | c.1018A>T (p.Asn340Tyr) c.727A>T (p.Asn243Tyr) c.77-3652A>T (n.77-3652A>T) | |
| 16 | g.51141204T>C | CA8053356 | SALL1 | c.1018A>G (p.Asn340Asp) c.727A>G (p.Asn243Asp) c.77-3652A>G (n.77-3652A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141204T>G | CA395889970 | SALL1 | c.1018A>C (p.Asn340His) c.727A>C (p.Asn243His) c.77-3652A>C (n.77-3652A>C) | gnomAD v4 |
| 16 | g.51141204T= | CA2222021647 | SALL1 | c.1018A= (p.Asn340=) c.727A= (p.Asn243=) c.77-3652A= (n.77-3652A=) | |
| 16 | g.51141205G>A | CA495781215 | SALL1 | c.1017C>T (p.Pro339=) c.726C>T (p.Pro242=) c.77-3653C>T (n.77-3653C>T) | gnomAD v4 |
| 16 | g.51141205G>C | CA495781216 | SALL1 | c.1017C>G (p.Pro339=) c.726C>G (p.Pro242=) c.77-3653C>G (n.77-3653C>G) | |
| 16 | g.51141205G>T | CA495781217 | SALL1 | c.1017C>A (p.Pro339=) c.726C>A (p.Pro242=) c.77-3653C>A (n.77-3653C>A) | gnomAD v4 |
| 16 | g.51141206G>A | CA8053357 | SALL1 | c.1016C>T (p.Pro339Leu) c.725C>T (p.Pro242Leu) c.77-3654C>T (n.77-3654C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141206G>C | CA395889976 | SALL1 | c.1016C>G (p.Pro339Arg) c.725C>G (p.Pro242Arg) c.77-3654C>G (n.77-3654C>G) | |
| 16 | g.51141206G= | CA2222021652 | SALL1 | c.1016C= (p.Pro339=) c.725C= (p.Pro242=) c.77-3654C= (n.77-3654C=) | |
| 16 | g.51141206G>T | CA395889979 | SALL1 | c.1016C>A (p.Pro339His) c.725C>A (p.Pro242His) c.77-3654C>A (n.77-3654C>A) | |
| 16 | g.51141207G>A | CA281302777 | SALL1 | c.1015C>T (p.Pro339Ser) c.724C>T (p.Pro242Ser) c.77-3655C>T (n.77-3655C>T) | dbSNP COSMIC |
| 16 | g.51141207G>C | CA395889983 | SALL1 | c.1015C>G (p.Pro339Ala) c.724C>G (p.Pro242Ala) c.77-3655C>G (n.77-3655C>G) | |
| 16 | g.51141207G= | CA2222021653 | SALL1 | c.1015C= (p.Pro339=) c.724C= (p.Pro242=) c.77-3655C= (n.77-3655C=) | |
| 16 | g.51141207G>T | CA8053358 | SALL1 | c.1015C>A (p.Pro339Thr) c.724C>A (p.Pro242Thr) c.77-3655C>A (n.77-3655C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141208A= | CA2222021656 | SALL1 | c.1014T= (p.Ser338=) c.723T= (p.Ser241=) c.77-3656T= (n.77-3656T=) | |
| 16 | g.51141208A>C | CA281302781 | SALL1 | c.1014T>G (p.Ser338=) c.723T>G (p.Ser241=) c.77-3656T>G (n.77-3656T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141208A>G | CA495781221 | SALL1 | c.1014T>C (p.Ser338=) c.723T>C (p.Ser241=) c.77-3656T>C (n.77-3656T>C) | |
| 16 | g.51141208A>T | CA495781222 | SALL1 | c.1014T>A (p.Ser338=) c.723T>A (p.Ser241=) c.77-3656T>A (n.77-3656T>A) | |
| 16 | g.51141209G>A | CA395889987 | SALL1 | c.1013C>T (p.Ser338Phe) c.722C>T (p.Ser241Phe) c.77-3657C>T (n.77-3657C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141209G>C | CA395889989 | SALL1 | c.1013C>G (p.Ser338Cys) c.722C>G (p.Ser241Cys) c.77-3657C>G (n.77-3657C>G) | |
| 16 | g.51141209G= | CA2222021664 | SALL1 | c.1013C= (p.Ser338=) c.722C= (p.Ser241=) c.77-3657C= (n.77-3657C=) | |
| 16 | g.51141209G>T | CA395889991 | SALL1 | c.1013C>A (p.Ser338Tyr) c.722C>A (p.Ser241Tyr) c.77-3657C>A (n.77-3657C>A) | |
| 16 | g.51141210A>C | CA395889994 | SALL1 | c.1012T>G (p.Ser338Ala) c.721T>G (p.Ser241Ala) c.77-3658T>G (n.77-3658T>G) | |
| 16 | g.51141210A>G | CA395889996 | SALL1 | c.1012T>C (p.Ser338Pro) c.721T>C (p.Ser241Pro) c.77-3658T>C (n.77-3658T>C) | |
| 16 | g.51141210A>T | CA395889999 | SALL1 | c.1012T>A (p.Ser338Thr) c.721T>A (p.Ser241Thr) c.77-3658T>A (n.77-3658T>A) | |
| 16 | g.51141211A>C | CA495781223 | SALL1 | c.1011T>G (p.Ser337=) c.720T>G (p.Ser240=) c.77-3659T>G (n.77-3659T>G) | |
| 16 | g.51141211A>G | CA495781224 | SALL1 | c.1011T>C (p.Ser337=) c.720T>C (p.Ser240=) c.77-3659T>C (n.77-3659T>C) | |
| 16 | g.51141211A>T | CA495781226 | SALL1 | c.1011T>A (p.Ser337=) c.720T>A (p.Ser240=) c.77-3659T>A (n.77-3659T>A) | |
| 16 | g.51141212G>A | CA395890007 | SALL1 | c.1010C>T (p.Ser337Phe) c.719C>T (p.Ser240Phe) c.77-3660C>T (n.77-3660C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141212G>C | CA395890004 | SALL1 | c.1010C>G (p.Ser337Cys) c.719C>G (p.Ser240Cys) c.77-3660C>G (n.77-3660C>G) | |
| 16 | g.51141212G= | CA2222021674 | SALL1 | c.1010C= (p.Ser337=) c.719C= (p.Ser240=) c.77-3660C= (n.77-3660C=) | |
| 16 | g.51141212G>T | CA395890002 | SALL1 | c.1010C>A (p.Ser337Tyr) c.719C>A (p.Ser240Tyr) c.77-3660C>A (n.77-3660C>A) | |
| 16 | g.51141213A= | CA2222021677 | SALL1 | c.1009T= (p.Ser337=) c.718T= (p.Ser240=) c.77-3661T= (n.77-3661T=) | |
| 16 | g.51141213A>C | CA395890010 | SALL1 | c.1009T>G (p.Ser337Ala) c.718T>G (p.Ser240Ala) c.77-3661T>G (n.77-3661T>G) | |
| 16 | g.51141213A>G | CA8053359 | SALL1 | c.1009T>C (p.Ser337Pro) c.718T>C (p.Ser240Pro) c.77-3661T>C (n.77-3661T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141213A>T | CA395890012 | SALL1 | c.1009T>A (p.Ser337Thr) c.718T>A (p.Ser240Thr) c.77-3661T>A (n.77-3661T>A) | |
| 16 | g.51141214G>A | CA495781227 | SALL1 | c.1008C>T (p.Gly336=) c.717C>T (p.Gly239=) c.77-3662C>T (n.77-3662C>T) | dbSNP |
| 16 | g.51141214G>C | CA495781228 | SALL1 | c.1008C>G (p.Gly336=) c.717C>G (p.Gly239=) c.77-3662C>G (n.77-3662C>G) | |
| 16 | g.51141214G= | CA2222021680 | SALL1 | c.1008C= (p.Gly336=) c.717C= (p.Gly239=) c.77-3662C= (n.77-3662C=) | |
| 16 | g.51141214G>T | CA495781229 | SALL1 | c.1008C>A (p.Gly336=) c.717C>A (p.Gly239=) c.77-3662C>A (n.77-3662C>A) | |
| 16 | g.51141215C>A | CA395890022 | SALL1 | c.1007G>T (p.Gly336Val) c.716G>T (p.Gly239Val) c.77-3663G>T (n.77-3663G>T) | |
| 16 | g.51141215C= | CA2222021682 | SALL1 | c.1007G= (p.Gly336=) c.716G= (p.Gly239=) c.77-3663G= (n.77-3663G=) | |
| 16 | g.51141215C>G | CA395890024 | SALL1 | c.1007G>C (p.Gly336Ala) c.716G>C (p.Gly239Ala) c.77-3663G>C (n.77-3663G>C) | ClinVar dbSNP |
| 16 | g.51141215C>T | CA8053360 | SALL1 | c.1007G>A (p.Gly336Asp) c.716G>A (p.Gly239Asp) c.77-3663G>A (n.77-3663G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141216C>A | CA395890027 | SALL1 | c.1006G>T (p.Gly336Cys) c.715G>T (p.Gly239Cys) c.77-3664G>T (n.77-3664G>T) | |
| 16 | g.51141216C= | CA2222021687 | SALL1 | c.1006G= (p.Gly336=) c.715G= (p.Gly239=) c.77-3664G= (n.77-3664G=) | |
| 16 | g.51141216C>G | CA395890029 | SALL1 | c.1006G>C (p.Gly336Arg) c.715G>C (p.Gly239Arg) c.77-3664G>C (n.77-3664G>C) | gnomAD v4 |
| 16 | g.51141216C>T | CA8053361 | SALL1 | c.1006G>A (p.Gly336Ser) c.715G>A (p.Gly239Ser) c.77-3664G>A (n.77-3664G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141217G>A | CA281302791 | SALL1 | c.1005C>T (p.Ser335=) c.714C>T (p.Ser238=) c.77-3665C>T (n.77-3665C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141217G>C | CA395890031 | SALL1 | c.1005C>G (p.Ser335Arg) c.714C>G (p.Ser238Arg) c.77-3665C>G (n.77-3665C>G) | |
| 16 | g.51141217G= | CA2222021693 | SALL1 | c.1005C= (p.Ser335=) c.714C= (p.Ser238=) c.77-3665C= (n.77-3665C=) | |
| 16 | g.51141217G>T | CA395890032 | SALL1 | c.1005C>A (p.Ser335Arg) c.714C>A (p.Ser238Arg) c.77-3665C>A (n.77-3665C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141218C>A | CA395890035 | SALL1 | c.1004G>T (p.Ser335Ile) c.713G>T (p.Ser238Ile) c.77-3666G>T (n.77-3666G>T) | |
| 16 | g.51141218C>G | CA395890037 | SALL1 | c.1004G>C (p.Ser335Thr) c.713G>C (p.Ser238Thr) c.77-3666G>C (n.77-3666G>C) | |
| 16 | g.51141218C>T | CA395890040 | SALL1 | c.1004G>A (p.Ser335Asn) c.713G>A (p.Ser238Asn) c.77-3666G>A (n.77-3666G>A) | dbSNP gnomAD v4 |
| 16 | g.51141219T>A | CA395890045 | SALL1 | c.1003A>T (p.Ser335Cys) c.712A>T (p.Ser238Cys) c.77-3667A>T (n.77-3667A>T) | |
| 16 | g.51141219T>C | CA8053362 | SALL1 | c.1003A>G (p.Ser335Gly) c.712A>G (p.Ser238Gly) c.77-3667A>G (n.77-3667A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141219T>G | CA395890041 | SALL1 | c.1003A>C (p.Ser335Arg) c.712A>C (p.Ser238Arg) c.77-3667A>C (n.77-3667A>C) | |
| 16 | g.51141219T= | CA2222021699 | SALL1 | c.1003A= (p.Ser335=) c.712A= (p.Ser238=) c.77-3667A= (n.77-3667A=) | |
| 16 | g.51141220G>A | CA495781235 | SALL1 | c.1002C>T (p.Asn334=) c.711C>T (p.Asn237=) c.77-3668C>T (n.77-3668C>T) | gnomAD v4 |
| 16 | g.51141220G>C | CA395890047 | SALL1 | c.1002C>G (p.Asn334Lys) c.711C>G (p.Asn237Lys) c.77-3668C>G (n.77-3668C>G) | |
| 16 | g.51141220G>T | CA395890050 | SALL1 | c.1002C>A (p.Asn334Lys) c.711C>A (p.Asn237Lys) c.77-3668C>A (n.77-3668C>A) | |
| 16 | g.51141221T>A | CA395890054 | SALL1 | c.1001A>T (p.Asn334Ile) c.710A>T (p.Asn237Ile) c.77-3669A>T (n.77-3669A>T) | |
| 16 | g.51141221T>C | CA395890055 | SALL1 | c.1001A>G (p.Asn334Ser) c.710A>G (p.Asn237Ser) c.77-3669A>G (n.77-3669A>G) | gnomAD v4 |
| 16 | g.51141221T>G | CA395890061 | SALL1 | c.1001A>C (p.Asn334Thr) c.710A>C (p.Asn237Thr) c.77-3669A>C (n.77-3669A>C) | |
| 16 | g.51141222T>A | CA395890063 | SALL1 | c.1000A>T (p.Asn334Tyr) c.709A>T (p.Asn237Tyr) c.77-3670A>T (n.77-3670A>T) | |
| 16 | g.51141222T>C | CA281302794 | SALL1 | c.1000A>G (p.Asn334Asp) c.709A>G (p.Asn237Asp) c.77-3670A>G (n.77-3670A>G) | dbSNP |
| 16 | g.51141222T>G | CA395890070 | SALL1 | c.1000A>C (p.Asn334His) c.709A>C (p.Asn237His) c.77-3670A>C (n.77-3670A>C) | |
| 16 | g.51141222T= | CA2222021704 | SALL1 | c.1000A= (p.Asn334=) c.709A= (p.Asn237=) c.77-3670A= (n.77-3670A=) | |
| 16 | g.51141223G>A | CA8053363 | SALL1 | c.999C>T (p.Ser333=) c.708C>T (p.Ser236=) c.77-3671C>T (n.77-3671C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141223G>C | CA495781237 | SALL1 | c.999C>G (p.Ser333=) c.708C>G (p.Ser236=) c.77-3671C>G (n.77-3671C>G) | |
| 16 | g.51141223G= | CA2222021707 | SALL1 | c.999C= (p.Ser333=) c.708C= (p.Ser236=) c.77-3671C= (n.77-3671C=) | |
| 16 | g.51141223G>T | CA495781236 | SALL1 | c.999C>A (p.Ser333=) c.708C>A (p.Ser236=) c.77-3671C>A (n.77-3671C>A) | |
| 16 | g.51141224G>A | CA395890071 | SALL1 | c.998C>T (p.Ser333Phe) c.707C>T (p.Ser236Phe) c.77-3672C>T (n.77-3672C>T) | |
| 16 | g.51141224G>C | CA395890072 | SALL1 | c.998C>G (p.Ser333Cys) c.707C>G (p.Ser236Cys) c.77-3672C>G (n.77-3672C>G) | COSMIC |
| 16 | g.51141224G>T | CA395890073 | SALL1 | c.998C>A (p.Ser333Tyr) c.707C>A (p.Ser236Tyr) c.77-3672C>A (n.77-3672C>A) | |
| 16 | g.51141225A>C | CA395890078 | SALL1 | c.997T>G (p.Ser333Ala) c.706T>G (p.Ser236Ala) c.77-3673T>G (n.77-3673T>G) | |
| 16 | g.51141225A>G | CA395890077 | SALL1 | c.997T>C (p.Ser333Pro) c.706T>C (p.Ser236Pro) c.77-3673T>C (n.77-3673T>C) | |
| 16 | g.51141225A>T | CA395890075 | SALL1 | c.997T>A (p.Ser333Thr) c.706T>A (p.Ser236Thr) c.77-3673T>A (n.77-3673T>A) | |
| 16 | g.51141226T>A | CA495781239 | SALL1 | c.996A>T (p.Pro332=) c.705A>T (p.Pro235=) c.77-3674A>T (n.77-3674A>T) | |
| 16 | g.51141226T>C | CA495781240 | SALL1 | c.996A>G (p.Pro332=) c.705A>G (p.Pro235=) c.77-3674A>G (n.77-3674A>G) | dbSNP COSMIC |
| 16 | g.51141226T>G | CA495781241 | SALL1 | c.996A>C (p.Pro332=) c.705A>C (p.Pro235=) c.77-3674A>C (n.77-3674A>C) | |
| 16 | g.51141226T= | CA2222021711 | SALL1 | c.996A= (p.Pro332=) c.705A= (p.Pro235=) c.77-3674A= (n.77-3674A=) | |
| 16 | g.51141226_51141227delinsTG | CA2222021714 | SALL1 | c.995_996delinsCA (p.Pro332=) c.704_705delinsCA (p.Pro235=) c.77-3675_77-3674delinsCA (n.77-3675_77-3674delinsCA) | |
| 16 | g.51141227G>A | CA395890080 | SALL1 | c.995C>T (p.Pro332Leu) c.704C>T (p.Pro235Leu) c.77-3675C>T (n.77-3675C>T) | |
| 16 | g.51141227G>C | CA395890085 | SALL1 | c.995C>G (p.Pro332Arg) c.704C>G (p.Pro235Arg) c.77-3675C>G (n.77-3675C>G) | |
| 16 | g.51141227G>T | CA395890087 | SALL1 | c.995C>A (p.Pro332Gln) c.704C>A (p.Pro235Gln) c.77-3675C>A (n.77-3675C>A) | |
| 16 | g.51141228del | CA913184996 | SALL1 | c.995del (p.Pro332HisfsTer10) c.704del (p.Pro235HisfsTer10) c.77-3675del (n.77-3675del) | ClinVar dbSNP |
| 16 | g.51141228G>A | CA395890091 | SALL1 | c.994C>T (p.Pro332Ser) c.703C>T (p.Pro235Ser) c.77-3676C>T (n.77-3676C>T) | |
| 16 | g.51141228G>C | CA395890092 | SALL1 | c.994C>G (p.Pro332Ala) c.703C>G (p.Pro235Ala) c.77-3676C>G (n.77-3676C>G) | dbSNP |
| 16 | g.51141228G= | CA2222021718 | SALL1 | c.994C= (p.Pro332=) c.703C= (p.Pro235=) c.77-3676C= (n.77-3676C=) | |
| 16 | g.51141228G>T | CA395890094 | SALL1 | c.994C>A (p.Pro332Thr) c.703C>A (p.Pro235Thr) c.77-3676C>A (n.77-3676C>A) | |
| 16 | g.51141229A>C | CA395890097 | SALL1 | c.993T>G (p.Ile331Met) c.702T>G (p.Ile234Met) c.77-3677T>G (n.77-3677T>G) | |
| 16 | g.51141229A>G | CA495781242 | SALL1 | c.993T>C (p.Ile331=) c.702T>C (p.Ile234=) c.77-3677T>C (n.77-3677T>C) | |
| 16 | g.51141229A>T | CA495781243 | SALL1 | c.993T>A (p.Ile331=) c.702T>A (p.Ile234=) c.77-3677T>A (n.77-3677T>A) | |
| 16 | g.51141230A>C | CA395890105 | SALL1 | c.992T>G (p.Ile331Ser) c.701T>G (p.Ile234Ser) c.77-3678T>G (n.77-3678T>G) | |
| 16 | g.51141230A>G | CA395890114 | SALL1 | c.992T>C (p.Ile331Thr) c.701T>C (p.Ile234Thr) c.77-3678T>C (n.77-3678T>C) | |
| 16 | g.51141230A>T | CA395890110 | SALL1 | c.992T>A (p.Ile331Asn) c.701T>A (p.Ile234Asn) c.77-3678T>A (n.77-3678T>A) | |
| 16 | g.51141231T>A | CA8053364 | SALL1 | c.991A>T (p.Ile331Phe) c.700A>T (p.Ile234Phe) c.77-3679A>T (n.77-3679A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141231T>C | CA395890119 | SALL1 | c.991A>G (p.Ile331Val) c.700A>G (p.Ile234Val) c.77-3679A>G (n.77-3679A>G) | gnomAD v4 |
| 16 | g.51141231T>G | CA395890122 | SALL1 | c.991A>C (p.Ile331Leu) c.700A>C (p.Ile234Leu) c.77-3679A>C (n.77-3679A>C) | |
| 16 | g.51141231T= | CA2222021725 | SALL1 | c.991A= (p.Ile331=) c.700A= (p.Ile234=) c.77-3679A= (n.77-3679A=) | |
| 16 | g.51141231_51141232insTA | CA2551083209 | SALL1 | c.990_991insTA (p.Ile331Ter) c.699_700insTA (p.Ile234Ter) c.77-3680_77-3679insTA (n.77-3680_77-3679insTA) | |
| 16 | g.51141232G>A | CA495781247 | SALL1 | c.990C>T (p.Ile330=) c.699C>T (p.Ile233=) c.77-3680C>T (n.77-3680C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141232G>C | CA395890124 | SALL1 | c.990C>G (p.Ile330Met) c.699C>G (p.Ile233Met) c.77-3680C>G (n.77-3680C>G) | |
| 16 | g.51141232G= | CA2222021730 | SALL1 | c.990C= (p.Ile330=) c.699C= (p.Ile233=) c.77-3680C= (n.77-3680C=) | |
| 16 | g.51141232G>T | CA495781248 | SALL1 | c.990C>A (p.Ile330=) c.699C>A (p.Ile233=) c.77-3680C>A (n.77-3680C>A) | |
| 16 | g.51141233A>C | CA395890125 | SALL1 | c.989T>G (p.Ile330Ser) c.698T>G (p.Ile233Ser) c.77-3681T>G (n.77-3681T>G) | |
| 16 | g.51141233A>G | CA395890130 | SALL1 | c.989T>C (p.Ile330Thr) c.698T>C (p.Ile233Thr) c.77-3681T>C (n.77-3681T>C) | gnomAD v4 |
| 16 | g.51141233A>T | CA395890127 | SALL1 | c.989T>A (p.Ile330Asn) c.698T>A (p.Ile233Asn) c.77-3681T>A (n.77-3681T>A) | gnomAD v4 |
| 16 | g.51141234T>A | CA395890131 | SALL1 | c.988A>T (p.Ile330Phe) c.697A>T (p.Ile233Phe) c.77-3682A>T (n.77-3682A>T) | |
| 16 | g.51141234T>C | CA395890133 | SALL1 | c.988A>G (p.Ile330Val) c.697A>G (p.Ile233Val) c.77-3682A>G (n.77-3682A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141234T>G | CA395890136 | SALL1 | c.988A>C (p.Ile330Leu) c.697A>C (p.Ile233Leu) c.77-3682A>C (n.77-3682A>C) | |
| 16 | g.51141234T= | CA2222021732 | SALL1 | c.988A= (p.Ile330=) c.697A= (p.Ile233=) c.77-3682A= (n.77-3682A=) | |
| 16 | g.51141234_51141235del | CA2507325572 | SALL1 | c.987_988del (p.Ile330HisfsTer24) c.696_697del (p.Ile233HisfsTer24) c.77-3683_77-3682del (n.77-3683_77-3682del) |