Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56833204_56833208dup | CA8068404 | NUP93 | c.1346-11_1346-7dup (n.1346-11_1346-7dup) c.977-11_977-7dup (n.977-11_977-7dup) n.588-11_588-7dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833204_56833208del | CA8068403 | NUP93 | c.1346-11_1346-7del (n.1346-11_1346-7del) c.977-11_977-7del (n.977-11_977-7del) n.588-11_588-7del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833200_56833209del | CA2576001279 | NUP93 | c.1346-15_1346-6del (n.1346-15_1346-6del) c.977-15_977-6del (n.977-15_977-6del) n.588-15_588-6del | |
16 | g.56833202_56833211delinsTCCTCTCTCC | CA2224332172 | NUP93 | c.1346-13_1346-4delinsTCCTCTCTCC (n.1346-13_1346-4delinsTCCTCTCTCC) c.977-13_977-4delinsTCCTCTCTCC (n.977-13_977-4delinsTCCTCTCTCC) n.588-13_588-4delinsTCCTCTCTCC | |
16 | g.56833204_56833212del | CA977660830 | NUP93 | c.1346-11_1346-3del (n.1346-11_1346-3del) c.977-11_977-3del (n.977-11_977-3del) n.588-11_588-3del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833209_56833210dup | CA8068407 | NUP93 | c.1346-6_1346-5dup (n.1346-6_1346-5dup) c.977-6_977-5dup (n.977-6_977-5dup) n.588-6_588-5dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833205_56833209del | CA2633366254 | NUP93 | c.1346-10_1346-6del (n.1346-10_1346-6del) c.977-10_977-6del (n.977-10_977-6del) n.588-10_588-6del | gnomAD v4 |
16 | g.56833205_56833209dup | CA8068409 | NUP93 | c.1346-10_1346-6dup (n.1346-10_1346-6dup) c.977-10_977-6dup (n.977-10_977-6dup) n.588-10_588-6dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833208C>A | CA2224332180 | NUP93 | c.1346-7C>A (n.1346-7C>A) c.977-7C>A (n.977-7C>A) n.588-7C>A | dbSNP |
16 | g.56833208C= | CA2224332179 | NUP93 | c.1346-7C= (n.1346-7C=) c.977-7C= (n.977-7C=) n.588-7C= | |
16 | g.56833208C>G | CA8068410 | NUP93 | c.1346-7C>G (n.1346-7C>G) c.977-7C>G (n.977-7C>G) n.588-7C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833208C>T | CA622338307 | NUP93 | c.1346-7C>T (n.1346-7C>T) c.977-7C>T (n.977-7C>T) n.588-7C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833209T>G | CA977660832 | NUP93 | c.1346-6T>G (n.1346-6T>G) c.977-6T>G (n.977-6T>G) n.588-6T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833209T= | CA2224332182 | NUP93 | c.1346-6T= (n.1346-6T=) c.977-6T= (n.977-6T=) n.588-6T= | |
16 | g.56833209_56833210delinsTC | CA2224332181 | NUP93 | c.1346-6_1346-5delinsTC (n.1346-6_1346-5delinsTC) c.977-6_977-5delinsTC (n.977-6_977-5delinsTC) n.588-6_588-5delinsTC | |
16 | g.56833210C>A | CA2838339362 | NUP93 | c.1346-5C>A (n.1346-5C>A) c.977-5C>A (n.977-5C>A) n.588-5C>A | |
16 | g.56833210C= | CA2224332183 | NUP93 | c.1346-5C= (n.1346-5C=) c.977-5C= (n.977-5C=) n.588-5C= | |
16 | g.56833210C>G | CA8068411 | NUP93 | c.1346-5C>G (n.1346-5C>G) c.977-5C>G (n.977-5C>G) n.588-5C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833212del | CA919713870 | NUP93 | c.1346-3del (n.1346-3del) c.977-3del (n.977-3del) n.588-3del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833211C= | CA2224332184 | NUP93 | c.1346-4C= (n.1346-4C=) c.977-4C= (n.977-4C=) n.588-4C= | |
16 | g.56833211C>G | CA2224332185 | NUP93 | c.1346-4C>G (n.1346-4C>G) c.977-4C>G (n.977-4C>G) n.588-4C>G | dbSNP |
16 | g.56833211C>T | CA2224332186 | NUP93 | c.1346-4C>T (n.1346-4C>T) c.977-4C>T (n.977-4C>T) n.588-4C>T | dbSNP |
16 | g.56833212C= | CA2224332187 | NUP93 | c.1346-3C= (n.1346-3C=) c.977-3C= (n.977-3C=) n.588-3C= | |
16 | g.56833212C>T | CA2224332188 | NUP93 | c.1346-3C>T (n.1346-3C>T) c.977-3C>T (n.977-3C>T) n.588-3C>T | dbSNP gnomAD v4 |
16 | g.56833213A= | CA2224332189 | NUP93 | c.1346-2A= (n.1346-2A=) c.977-2A= (n.977-2A=) n.588-2A= | |
16 | g.56833213A>C | CA395989591 | NUP93 | c.1346-2A>C (n.1346-2A>C) c.977-2A>C (n.977-2A>C) n.588-2A>C | |
16 | g.56833213A>G | CA395989589 | NUP93 | c.1346-2A>G (n.1346-2A>G) c.977-2A>G (n.977-2A>G) n.588-2A>G | gnomAD v4 |
16 | g.56833213A>T | CA395989587 | NUP93 | c.1346-2A>T (n.1346-2A>T) c.977-2A>T (n.977-2A>T) n.588-2A>T | |
16 | g.56833213_56833214insCTTTAC | CA722009501 | NUP93 | c.1346-2_1346-1insCTTTAC (n.1346-2_1346-1insCTTTAC) c.977-2_977-1insCTTTAC (n.977-2_977-1insCTTTAC) n.588-2_588-1insCTTTAC | dbSNP |
16 | g.56833214G>A | CA395989594 | NUP93 | c.1346-1G>A (n.1346-1G>A) c.977-1G>A (n.977-1G>A) n.588-1G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833214G>C | CA395989596 | NUP93 | c.1346-1G>C (n.1346-1G>C) c.977-1G>C (n.977-1G>C) n.588-1G>C | |
16 | g.56833214G= | CA2224332190 | NUP93 | c.1346-1G= (n.1346-1G=) c.977-1G= (n.977-1G=) n.588-1G= | |
16 | g.56833214G>T | CA395989598 | NUP93 | c.1346-1G>T (n.1346-1G>T) c.977-1G>T (n.977-1G>T) n.588-1G>T | |
16 | g.56833215G>A | CA395989600 | NUP93 | c.1346G>A (p.Gly449Asp) c.977G>A (p.Gly326Asp) n.588G>A | |
16 | g.56833215G>C | CA395989602 | NUP93 | c.1346G>C (p.Gly449Ala) c.977G>C (p.Gly326Ala) n.588G>C | |
16 | g.56833215G>T | CA395989604 | NUP93 | c.1346G>T (p.Gly449Val) c.977G>T (p.Gly326Val) n.588G>T | |
16 | g.56833216C>A | CA495600232 | NUP93 | c.1347C>A (p.Gly449=) c.978C>A (p.Gly326=) n.589C>A | gnomAD v4 |
16 | g.56833216C= | CA2224332191 | NUP93 | c.1347C= (p.Gly449=) c.978C= (p.Gly326=) n.589C= | |
16 | g.56833216C>G | CA495600235 | NUP93 | c.1347C>G (p.Gly449=) c.978C>G (p.Gly326=) n.589C>G | |
16 | g.56833216C>T | CA8068412 | NUP93 | c.1347C>T (p.Gly449=) c.978C>T (p.Gly326=) n.589C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833217G>A | CA8068413 | NUP93 | c.1348G>A (p.Glu450Lys) c.979G>A (p.Glu327Lys) n.590G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833217G>C | CA395989610 | NUP93 | c.1348G>C (p.Glu450Gln) c.979G>C (p.Glu327Gln) n.590G>C | |
16 | g.56833217G= | CA2224332192 | NUP93 | c.1348G= (p.Glu450=) c.979G= (p.Glu327=) n.590G= | |
16 | g.56833217G>T | CA395989612 | NUP93 | c.1348G>T (p.Glu450Ter) c.979G>T (p.Glu327Ter) n.590G>T | |
16 | g.56833218A>C | CA395989613 | NUP93 | c.1349A>C (p.Glu450Ala) c.980A>C (p.Glu327Ala) n.591A>C | |
16 | g.56833218A>G | CA395989615 | NUP93 | c.1349A>G (p.Glu450Gly) c.980A>G (p.Glu327Gly) n.591A>G | |
16 | g.56833218A>T | CA395989618 | NUP93 | c.1349A>T (p.Glu450Val) c.980A>T (p.Glu327Val) n.591A>T | |
16 | g.56833219G>A | CA495600250 | NUP93 | c.1350G>A (p.Glu450=) c.981G>A (p.Glu327=) n.592G>A | |
16 | g.56833219G>C | CA395989625 | NUP93 | c.1350G>C (p.Glu450Asp) c.981G>C (p.Glu327Asp) n.592G>C | |
16 | g.56833219G>T | CA395989622 | NUP93 | c.1350G>T (p.Glu450Asp) c.981G>T (p.Glu327Asp) n.592G>T | |
16 | g.56833220T>A | CA395989627 | NUP93 | c.1351T>A (p.Ser451Thr) c.982T>A (p.Ser328Thr) n.593T>A | |
16 | g.56833220T>C | CA395989629 | NUP93 | c.1351T>C (p.Ser451Pro) c.982T>C (p.Ser328Pro) n.593T>C | |
16 | g.56833220T>G | CA395989631 | NUP93 | c.1351T>G (p.Ser451Ala) c.982T>G (p.Ser328Ala) n.593T>G | |
16 | g.56833221C>A | CA395989633 | NUP93 | c.1352C>A (p.Ser451Tyr) c.983C>A (p.Ser328Tyr) n.594C>A | |
16 | g.56833221C>G | CA395989635 | NUP93 | c.1352C>G (p.Ser451Cys) c.983C>G (p.Ser328Cys) n.594C>G | |
16 | g.56833221C>T | CA395989637 | NUP93 | c.1352C>T (p.Ser451Phe) c.983C>T (p.Ser328Phe) n.594C>T | |
16 | g.56833223del | CA2633366258 | NUP93 | c.1354del (p.His452ThrfsTer4) c.985del (p.His329ThrfsTer4) n.596del | gnomAD v4 |
16 | g.56833222C>A | CA495600258 | NUP93 | c.1353C>A (p.Ser451=) c.984C>A (p.Ser328=) n.595C>A | |
16 | g.56833222C= | CA2224332193 | NUP93 | c.1353C= (p.Ser451=) c.984C= (p.Ser328=) n.595C= | |
16 | g.56833222C>G | CA8068414 | NUP93 | c.1353C>G (p.Ser451=) c.984C>G (p.Ser328=) n.595C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833222C>T | CA495600262 | NUP93 | c.1353C>T (p.Ser451=) c.984C>T (p.Ser328=) n.595C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833223C>A | CA395989641 | NUP93 | c.1354C>A (p.His452Asn) c.985C>A (p.His329Asn) n.596C>A | |
16 | g.56833223C>G | CA395989644 | NUP93 | c.1354C>G (p.His452Asp) c.985C>G (p.His329Asp) n.596C>G | |
16 | g.56833223C>T | CA395989646 | NUP93 | c.1354C>T (p.His452Tyr) c.985C>T (p.His329Tyr) n.596C>T | |
16 | g.56833224A>C | CA395989649 | NUP93 | c.1355A>C (p.His452Pro) c.986A>C (p.His329Pro) n.597A>C | |
16 | g.56833224A>G | CA395989651 | NUP93 | c.1355A>G (p.His452Arg) c.986A>G (p.His329Arg) n.597A>G | |
16 | g.56833224A>T | CA395989652 | NUP93 | c.1355A>T (p.His452Leu) c.986A>T (p.His329Leu) n.597A>T | |
16 | g.56833225C>A | CA395989655 | NUP93 | c.1356C>A (p.His452Gln) c.987C>A (p.His329Gln) n.598C>A | |
16 | g.56833225C>G | CA395989656 | NUP93 | c.1356C>G (p.His452Gln) c.987C>G (p.His329Gln) n.598C>G | |
16 | g.56833225C>T | CA495600274 | NUP93 | c.1356C>T (p.His452=) c.987C>T (p.His329=) n.598C>T | |
16 | g.56833225_56833226delinsCT | CA2224332194 | NUP93 | c.1356_1357delinsCT (p.His452=) c.987_988delinsCT (p.His329=) n.598_599delinsCT | |
16 | g.56833226T>A | CA395989660 | NUP93 | c.1357T>A (p.Phe453Ile) c.988T>A (p.Phe330Ile) n.599T>A | |
16 | g.56833226T>C | CA395989664 | NUP93 | c.1357T>C (p.Phe453Leu) c.988T>C (p.Phe330Leu) n.599T>C | |
16 | g.56833226T>G | CA395989661 | NUP93 | c.1357T>G (p.Phe453Val) c.988T>G (p.Phe330Val) n.599T>G | |
16 | g.56833228del | CA2224332195 | NUP93 | c.1359del (p.Phe453LeufsTer3) c.990del (p.Phe330LeufsTer3) n.601del | dbSNP |
16 | g.56833227T>A | CA395989668 | NUP93 | c.1358T>A (p.Phe453Tyr) c.989T>A (p.Phe330Tyr) n.600T>A | |
16 | g.56833227T>C | CA395989669 | NUP93 | c.1358T>C (p.Phe453Ser) c.989T>C (p.Phe330Ser) n.600T>C | gnomAD v4 |
16 | g.56833227T>G | CA395989670 | NUP93 | c.1358T>G (p.Phe453Cys) c.989T>G (p.Phe330Cys) n.600T>G | gnomAD v4 |
16 | g.56833228T>A | CA395989673 | NUP93 | c.1359T>A (p.Phe453Leu) c.990T>A (p.Phe330Leu) n.601T>A | |
16 | g.56833228T>C | CA8068415 | NUP93 | c.1359T>C (p.Phe453=) c.990T>C (p.Phe330=) n.601T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833228T>G | CA395989676 | NUP93 | c.1359T>G (p.Phe453Leu) c.990T>G (p.Phe330Leu) n.601T>G | |
16 | g.56833228T= | CA2224332196 | NUP93 | c.1359T= (p.Phe453=) c.990T= (p.Phe330=) n.601T= | |
16 | g.56833229A>C | CA395989680 | NUP93 | c.1360A>C (p.Thr454Pro) c.991A>C (p.Thr331Pro) n.602A>C | |
16 | g.56833229A>G | CA395989682 | NUP93 | c.1360A>G (p.Thr454Ala) c.991A>G (p.Thr331Ala) n.602A>G | |
16 | g.56833229A>T | CA395989684 | NUP93 | c.1360A>T (p.Thr454Ser) c.991A>T (p.Thr331Ser) n.602A>T | |
16 | g.56833230C>A | CA395989687 | NUP93 | c.1361C>A (p.Thr454Lys) c.992C>A (p.Thr331Lys) n.603C>A | |
16 | g.56833230C= | CA2224332197 | NUP93 | c.1361C= (p.Thr454=) c.992C= (p.Thr331=) n.603C= | |
16 | g.56833230C>G | CA395989689 | NUP93 | c.1361C>G (p.Thr454Arg) c.992C>G (p.Thr331Arg) n.603C>G | |
16 | g.56833230C>T | CA8068416 | NUP93 | c.1361C>T (p.Thr454Met) c.992C>T (p.Thr331Met) n.603C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833231G>A | CA8068417 | NUP93 | c.1362G>A (p.Thr454=) c.993G>A (p.Thr331=) n.604G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833231G>C | CA495600282 | NUP93 | c.1362G>C (p.Thr454=) c.993G>C (p.Thr331=) n.604G>C | |
16 | g.56833231G= | CA2224332198 | NUP93 | c.1362G= (p.Thr454=) c.993G= (p.Thr331=) n.604G= | |
16 | g.56833231G>T | CA495600280 | NUP93 | c.1362G>T (p.Thr454=) c.993G>T (p.Thr331=) n.604G>T | |
16 | g.56833232G>A | CA395989691 | NUP93 | c.1363G>A (p.Val455Met) c.994G>A (p.Val332Met) n.605G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833232G>C | CA395989694 | NUP93 | c.1363G>C (p.Val455Leu) c.994G>C (p.Val332Leu) n.605G>C | |
16 | g.56833232G= | CA2224332199 | NUP93 | c.1363G= (p.Val455=) c.994G= (p.Val332=) n.605G= | |
16 | g.56833232G>T | CA281497128 | NUP93 | c.1363G>T (p.Val455Leu) c.994G>T (p.Val332Leu) n.605G>T | dbSNP |
16 | g.56833233T>A | CA395989697 | NUP93 | c.1364T>A (p.Val455Glu) c.995T>A (p.Val332Glu) n.606T>A | COSMIC |
16 | g.56833233T>C | CA395989700 | NUP93 | c.1364T>C (p.Val455Ala) c.995T>C (p.Val332Ala) n.606T>C | |
16 | g.56833233T>G | CA395989702 | NUP93 | c.1364T>G (p.Val455Gly) c.995T>G (p.Val332Gly) n.606T>G | ClinVar |
16 | g.56833234G>A | CA495600285 | NUP93 | c.1365G>A (p.Val455=) c.996G>A (p.Val332=) n.607G>A | gnomAD v4 |
16 | g.56833234G>C | CA495600286 | NUP93 | c.1365G>C (p.Val455=) c.996G>C (p.Val332=) n.607G>C | |
16 | g.56833234G= | CA2224332200 | NUP93 | c.1365G= (p.Val455=) c.996G= (p.Val332=) n.607G= | |
16 | g.56833234G>T | CA495600287 | NUP93 | c.1365G>T (p.Val455=) c.996G>T (p.Val332=) n.607G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833235A>C | CA395989706 | NUP93 | c.1366A>C (p.Asn456His) c.997A>C (p.Asn333His) n.608A>C | gnomAD v4 |
16 | g.56833235A>G | CA395989708 | NUP93 | c.1366A>G (p.Asn456Asp) c.997A>G (p.Asn333Asp) n.608A>G | |
16 | g.56833235A>T | CA395989710 | NUP93 | c.1366A>T (p.Asn456Tyr) c.997A>T (p.Asn333Tyr) n.608A>T | |
16 | g.56833236A= | CA2224332201 | NUP93 | c.1367A= (p.Asn456=) c.998A= (p.Asn333=) n.609A= | |
16 | g.56833236A>C | CA395989712 | NUP93 | c.1367A>C (p.Asn456Thr) c.998A>C (p.Asn333Thr) n.609A>C | |
16 | g.56833236A>G | CA395989714 | NUP93 | c.1367A>G (p.Asn456Ser) c.998A>G (p.Asn333Ser) n.609A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56833236A>T | CA395989717 | NUP93 | c.1367A>T (p.Asn456Ile) c.998A>T (p.Asn333Ile) n.609A>T | |
16 | g.56833237C>A | CA395989721 | NUP93 | c.1368C>A (p.Asn456Lys) c.999C>A (p.Asn333Lys) n.610C>A | |
16 | g.56833237C= | CA2224332202 | NUP93 | c.1368C= (p.Asn456=) c.999C= (p.Asn333=) n.610C= | |
16 | g.56833237C>G | CA395989723 | NUP93 | c.1368C>G (p.Asn456Lys) c.999C>G (p.Asn333Lys) n.610C>G | |
16 | g.56833237C>T | CA8068418 | NUP93 | c.1368C>T (p.Asn456=) c.999C>T (p.Asn333=) n.610C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833238C>A | CA395989726 | NUP93 | c.1369C>A (p.Gln457Lys) c.1000C>A (p.Gln334Lys) n.611C>A | |
16 | g.56833238C>G | CA395989728 | NUP93 | c.1369C>G (p.Gln457Glu) c.1000C>G (p.Gln334Glu) n.611C>G | gnomAD v4 |
16 | g.56833238C>T | CA395989730 | NUP93 | c.1369C>T (p.Gln457Ter) c.1000C>T (p.Gln334Ter) n.611C>T | gnomAD v4 |
16 | g.56833239A>C | CA395989732 | NUP93 | c.1370A>C (p.Gln457Pro) c.1001A>C (p.Gln334Pro) n.612A>C | |
16 | g.56833239A>G | CA395989734 | NUP93 | c.1370A>G (p.Gln457Arg) c.1001A>G (p.Gln334Arg) n.612A>G | |
16 | g.56833239A>T | CA395989736 | NUP93 | c.1370A>T (p.Gln457Leu) c.1001A>T (p.Gln334Leu) n.612A>T | |
16 | g.56833240G>A | CA495600293 | NUP93 | c.1371G>A (p.Gln457=) c.1002G>A (p.Gln334=) n.613G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833240G>C | CA395989739 | NUP93 | c.1371G>C (p.Gln457His) c.1002G>C (p.Gln334His) n.613G>C | |
16 | g.56833240G= | CA2224332203 | NUP93 | c.1371G= (p.Gln457=) c.1002G= (p.Gln334=) n.613G= | |
16 | g.56833240G>T | CA395989740 | NUP93 | c.1371G>T (p.Gln457His) c.1002G>T (p.Gln334His) n.613G>T | |
16 | g.56833241C>A | CA395989743 | NUP93 | c.1372C>A (p.Gln458Lys) c.1003C>A (p.Gln335Lys) n.614C>A | |
16 | g.56833241C= | CA2224332204 | NUP93 | c.1372C= (p.Gln458=) c.1003C= (p.Gln335=) n.614C= | |
16 | g.56833241C>G | CA395989745 | NUP93 | c.1372C>G (p.Gln458Glu) c.1003C>G (p.Gln335Glu) n.614C>G | dbSNP |
16 | g.56833241C>T | CA395989746 | NUP93 | c.1372C>T (p.Gln458Ter) c.1003C>T (p.Gln335Ter) n.614C>T | |
16 | g.56833242A>C | CA395989748 | NUP93 | c.1373A>C (p.Gln458Pro) c.1004A>C (p.Gln335Pro) n.615A>C | |
16 | g.56833242A>G | CA395989750 | NUP93 | c.1373A>G (p.Gln458Arg) c.1004A>G (p.Gln335Arg) n.615A>G | |
16 | g.56833242A>T | CA395989752 | NUP93 | c.1373A>T (p.Gln458Leu) c.1004A>T (p.Gln335Leu) n.615A>T | |
16 | g.56833243A= | CA2224332205 | NUP93 | c.1374A= (p.Gln458=) c.1005A= (p.Gln335=) n.616A= | |
16 | g.56833243A>C | CA395989755 | NUP93 | c.1374A>C (p.Gln458His) c.1005A>C (p.Gln335His) n.616A>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833243A>G | CA495600299 | NUP93 | c.1374A>G (p.Gln458=) c.1005A>G (p.Gln335=) n.616A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833243A>T | CA395989757 | NUP93 | c.1374A>T (p.Gln458His) c.1005A>T (p.Gln335His) n.616A>T | |
16 | g.56833244C>A | CA395989760 | NUP93 | c.1375C>A (p.Pro459Thr) c.1006C>A (p.Pro336Thr) n.617C>A | |
16 | g.56833244C>G | CA395989762 | NUP93 | c.1375C>G (p.Pro459Ala) c.1006C>G (p.Pro336Ala) n.617C>G | |
16 | g.56833244C>T | CA395989764 | NUP93 | c.1375C>T (p.Pro459Ser) c.1006C>T (p.Pro336Ser) n.617C>T | |
16 | g.56833245C>A | CA395989767 | NUP93 | c.1376C>A (p.Pro459His) c.1007C>A (p.Pro336His) n.618C>A | |
16 | g.56833245C= | CA2224332206 | NUP93 | c.1376C= (p.Pro459=) c.1007C= (p.Pro336=) n.618C= | |
16 | g.56833245C>G | CA395989769 | NUP93 | c.1376C>G (p.Pro459Arg) c.1007C>G (p.Pro336Arg) n.618C>G | dbSNP |
16 | g.56833245C>T | CA395989771 | NUP93 | c.1376C>T (p.Pro459Leu) c.1007C>T (p.Pro336Leu) n.618C>T | dbSNP COSMIC |
16 | g.56833246C>A | CA495600301 | NUP93 | c.1377C>A (p.Pro459=) c.1008C>A (p.Pro336=) n.619C>A | gnomAD v4 |
16 | g.56833246C= | CA2224332207 | NUP93 | c.1377C= (p.Pro459=) c.1008C= (p.Pro336=) n.619C= | |
16 | g.56833246C>G | CA495600300 | NUP93 | c.1377C>G (p.Pro459=) c.1008C>G (p.Pro336=) n.619C>G | |
16 | g.56833246C>T | CA8068419 | NUP93 | c.1377C>T (p.Pro459=) c.1008C>T (p.Pro336=) n.619C>T | dbSNP ExAC gnomAD v2 |
16 | g.56833247T>A | CA395989776 | NUP93 | c.1378T>A (p.Phe460Ile) c.1009T>A (p.Phe337Ile) n.620T>A | |
16 | g.56833247T>C | CA395989778 | NUP93 | c.1378T>C (p.Phe460Leu) c.1009T>C (p.Phe337Leu) n.620T>C | gnomAD v4 |
16 | g.56833247T>G | CA395989779 | NUP93 | c.1378T>G (p.Phe460Val) c.1009T>G (p.Phe337Val) n.620T>G | |
16 | g.56833248T>A | CA395989782 | NUP93 | c.1379T>A (p.Phe460Tyr) c.1010T>A (p.Phe337Tyr) n.621T>A | |
16 | g.56833248T>C | CA395989784 | NUP93 | c.1379T>C (p.Phe460Ser) c.1010T>C (p.Phe337Ser) n.621T>C | |
16 | g.56833248T>G | CA395989786 | NUP93 | c.1379T>G (p.Phe460Cys) c.1010T>G (p.Phe337Cys) n.621T>G | |
16 | g.56833249C>A | CA395989790 | NUP93 | c.1380C>A (p.Phe460Leu) c.1011C>A (p.Phe337Leu) n.622C>A | |
16 | g.56833249C>G | CA395989788 | NUP93 | c.1380C>G (p.Phe460Leu) c.1011C>G (p.Phe337Leu) n.622C>G | |
16 | g.56833249C>T | CA495600302 | NUP93 | c.1380C>T (p.Phe460=) c.1011C>T (p.Phe337=) n.622C>T | |
16 | g.56833250C>A | CA395989791 | NUP93 | c.1381C>A (p.Leu461Ile) c.1012C>A (p.Leu338Ile) n.623C>A | |
16 | g.56833250C= | CA2224332208 | NUP93 | c.1381C= (p.Leu461=) c.1012C= (p.Leu338=) n.623C= | |
16 | g.56833250C>G | CA395989792 | NUP93 | c.1381C>G (p.Leu461Val) c.1012C>G (p.Leu338Val) n.623C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833250C>T | CA281497144 | NUP93 | c.1381C>T (p.Leu461Phe) c.1012C>T (p.Leu338Phe) n.623C>T | dbSNP gnomAD v2 |
16 | g.56833251T>A | CA395989794 | NUP93 | c.1382T>A (p.Leu461His) c.1013T>A (p.Leu338His) n.624T>A | |
16 | g.56833251T>C | CA395989796 | NUP93 | c.1382T>C (p.Leu461Pro) c.1013T>C (p.Leu338Pro) n.624T>C | |
16 | g.56833251T>G | CA395989799 | NUP93 | c.1382T>G (p.Leu461Arg) c.1013T>G (p.Leu338Arg) n.624T>G | |
16 | g.56833252C>A | CA495600303 | NUP93 | c.1383C>A (p.Leu461=) c.1014C>A (p.Leu338=) n.625C>A | |
16 | g.56833252C>G | CA495600304 | NUP93 | c.1383C>G (p.Leu461=) c.1014C>G (p.Leu338=) n.625C>G | |
16 | g.56833252C>T | CA495600305 | NUP93 | c.1383C>T (p.Leu461=) c.1014C>T (p.Leu338=) n.625C>T | |
16 | g.56833253T>A | CA395989801 | NUP93 | c.1384T>A (p.Tyr462Asn) c.1015T>A (p.Tyr339Asn) n.626T>A | |
16 | g.56833253T>C | CA395989803 | NUP93 | c.1384T>C (p.Tyr462His) c.1015T>C (p.Tyr339His) n.626T>C | |
16 | g.56833253T>G | CA395989806 | NUP93 | c.1384T>G (p.Tyr462Asp) c.1015T>G (p.Tyr339Asp) n.626T>G | |
16 | g.56833254A= | CA2224332209 | NUP93 | c.1385A= (p.Tyr462=) c.1016A= (p.Tyr339=) n.627A= | |
16 | g.56833254A>C | CA395989813 | NUP93 | c.1385A>C (p.Tyr462Ser) c.1016A>C (p.Tyr339Ser) n.627A>C | gnomAD v4 |
16 | g.56833254A>G | CA395989809 | NUP93 | c.1385A>G (p.Tyr462Cys) c.1016A>G (p.Tyr339Cys) n.627A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833254A>T | CA395989811 | NUP93 | c.1385A>T (p.Tyr462Phe) c.1016A>T (p.Tyr339Phe) n.627A>T | |
16 | g.56833255C>A | CA395989816 | NUP93 | c.1386C>A (p.Tyr462Ter) c.1017C>A (p.Tyr339Ter) n.628C>A | |
16 | g.56833255C= | CA2224332210 | NUP93 | c.1386C= (p.Tyr462=) c.1017C= (p.Tyr339=) n.628C= | |
16 | g.56833255C>G | CA395989818 | NUP93 | c.1386C>G (p.Tyr462Ter) c.1017C>G (p.Tyr339Ter) n.628C>G | |
16 | g.56833255C>T | CA495600306 | NUP93 | c.1386C>T (p.Tyr462=) c.1017C>T (p.Tyr339=) n.628C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833256T>A | CA395989821 | NUP93 | c.1387T>A (p.Phe463Ile) c.1018T>A (p.Phe340Ile) n.629T>A | |
16 | g.56833256T>C | CA395989822 | NUP93 | c.1387T>C (p.Phe463Leu) c.1018T>C (p.Phe340Leu) n.629T>C | |
16 | g.56833256T>G | CA395989825 | NUP93 | c.1387T>G (p.Phe463Val) c.1018T>G (p.Phe340Val) n.629T>G | gnomAD v4 |
16 | g.56833257T>A | CA395989832 | NUP93 | c.1388T>A (p.Phe463Tyr) c.1019T>A (p.Phe340Tyr) n.630T>A | |
16 | g.56833257T>C | CA395989828 | NUP93 | c.1388T>C (p.Phe463Ser) c.1019T>C (p.Phe340Ser) n.630T>C | |
16 | g.56833257T>G | CA395989830 | NUP93 | c.1388T>G (p.Phe463Cys) c.1019T>G (p.Phe340Cys) n.630T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833257T= | CA2224332211 | NUP93 | c.1388T= (p.Phe463=) c.1019T= (p.Phe340=) n.630T= | |
16 | g.56833258C>A | CA395989835 | NUP93 | c.1389C>A (p.Phe463Leu) c.1020C>A (p.Phe340Leu) n.631C>A | |
16 | g.56833258C>G | CA395989837 | NUP93 | c.1389C>G (p.Phe463Leu) c.1020C>G (p.Phe340Leu) n.631C>G | |
16 | g.56833258C>T | CA495600307 | NUP93 | c.1389C>T (p.Phe463=) c.1020C>T (p.Phe340=) n.631C>T | COSMIC |
16 | g.56833259C>A | CA395989840 | NUP93 | c.1390C>A (p.Gln464Lys) c.1021C>A (p.Gln341Lys) n.632C>A | gnomAD v4 |
16 | g.56833259C= | CA2224332212 | NUP93 | c.1390C= (p.Gln464=) c.1021C= (p.Gln341=) n.632C= | |
16 | g.56833259C>G | CA395989842 | NUP93 | c.1390C>G (p.Gln464Glu) c.1021C>G (p.Gln341Glu) n.632C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833259C>T | CA395989843 | NUP93 | c.1390C>T (p.Gln464Ter) c.1021C>T (p.Gln341Ter) n.632C>T | gnomAD v4 |
16 | g.56833260A>C | CA395989846 | NUP93 | c.1391A>C (p.Gln464Pro) c.1022A>C (p.Gln341Pro) n.633A>C | |
16 | g.56833260A>G | CA395989850 | NUP93 | c.1391A>G (p.Gln464Arg) c.1022A>G (p.Gln341Arg) n.633A>G | |
16 | g.56833260A>T | CA395989852 | NUP93 | c.1391A>T (p.Gln464Leu) c.1022A>T (p.Gln341Leu) n.633A>T | |
16 | g.56833261A>C | CA395989854 | NUP93 | c.1392A>C (p.Gln464His) c.1023A>C (p.Gln341His) n.634A>C | |
16 | g.56833261A>G | CA495600308 | NUP93 | c.1392A>G (p.Gln464=) c.1023A>G (p.Gln341=) n.634A>G | |
16 | g.56833261A>T | CA395989856 | NUP93 | c.1392A>T (p.Gln464His) c.1023A>T (p.Gln341His) n.634A>T | |
16 | g.56833262G>A | CA395989858 | NUP93 | c.1393G>A (p.Val465Ile) c.1024G>A (p.Val342Ile) n.635G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833262G>C | CA395989861 | NUP93 | c.1393G>C (p.Val465Leu) c.1024G>C (p.Val342Leu) n.635G>C | |
16 | g.56833262G= | CA2224332213 | NUP93 | c.1393G= (p.Val465=) c.1024G= (p.Val342=) n.635G= | |
16 | g.56833262G>T | CA395989862 | NUP93 | c.1393G>T (p.Val465Phe) c.1024G>T (p.Val342Phe) n.635G>T | |
16 | g.56833263T>A | CA395989870 | NUP93 | c.1394T>A (p.Val465Asp) c.1025T>A (p.Val342Asp) n.636T>A | |
16 | g.56833263T>C | CA395989865 | NUP93 | c.1394T>C (p.Val465Ala) c.1025T>C (p.Val342Ala) n.636T>C | gnomAD v4 |
16 | g.56833263T>G | CA395989867 | NUP93 | c.1394T>G (p.Val465Gly) c.1025T>G (p.Val342Gly) n.636T>G | |
16 | g.56833264C>A | CA495600309 | NUP93 | c.1395C>A (p.Val465=) c.1026C>A (p.Val342=) n.637C>A | |
16 | g.56833264C>G | CA495600310 | NUP93 | c.1395C>G (p.Val465=) c.1026C>G (p.Val342=) n.637C>G | |
16 | g.56833264C>T | CA495600311 | NUP93 | c.1395C>T (p.Val465=) c.1026C>T (p.Val342=) n.637C>T | gnomAD v4 |
16 | g.56833265C>A | CA395989873 | NUP93 | c.1396C>A (p.Leu466Met) c.1027C>A (p.Leu343Met) n.638C>A | |
16 | g.56833265C= | CA2224332214 | NUP93 | c.1396C= (p.Leu466=) c.1027C= (p.Leu343=) n.638C= | |
16 | g.56833265C>G | CA395989875 | NUP93 | c.1396C>G (p.Leu466Val) c.1027C>G (p.Leu343Val) n.638C>G | |
16 | g.56833265C>T | CA495600312 | NUP93 | c.1396C>T (p.Leu466=) c.1027C>T (p.Leu343=) n.638C>T | dbSNP gnomAD v2 |
16 | g.56833266T>A | CA395989877 | NUP93 | c.1397T>A (p.Leu466Gln) c.1028T>A (p.Leu343Gln) n.639T>A | |
16 | g.56833266T>C | CA395989879 | NUP93 | c.1397T>C (p.Leu466Pro) c.1028T>C (p.Leu343Pro) n.639T>C | |
16 | g.56833266T>G | CA395989882 | NUP93 | c.1397T>G (p.Leu466Arg) c.1028T>G (p.Leu343Arg) n.639T>G | |
16 | g.56833267G>A | CA495600315 | NUP93 | c.1398G>A (p.Leu466=) c.1029G>A (p.Leu343=) n.640G>A | |
16 | g.56833267G>C | CA495600314 | NUP93 | c.1398G>C (p.Leu466=) c.1029G>C (p.Leu343=) n.640G>C | |
16 | g.56833267G>T | CA495600313 | NUP93 | c.1398G>T (p.Leu466=) c.1029G>T (p.Leu343=) n.640G>T | |
16 | g.56833268T>A | CA395989884 | NUP93 | c.1399T>A (p.Phe467Ile) c.1030T>A (p.Phe344Ile) n.641T>A | |
16 | g.56833268T>C | CA8068420 | NUP93 | c.1399T>C (p.Phe467Leu) c.1030T>C (p.Phe344Leu) n.641T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833268T>G | CA395989887 | NUP93 | c.1399T>G (p.Phe467Val) c.1030T>G (p.Phe344Val) n.641T>G | |
16 | g.56833268T= | CA2224332215 | NUP93 | c.1399T= (p.Phe467=) c.1030T= (p.Phe344=) n.641T= | |
16 | g.56833269T>A | CA395989890 | NUP93 | c.1400T>A (p.Phe467Tyr) c.1031T>A (p.Phe344Tyr) n.642T>A | |
16 | g.56833269T>C | CA395989893 | NUP93 | c.1400T>C (p.Phe467Ser) c.1031T>C (p.Phe344Ser) n.642T>C | |
16 | g.56833269T>G | CA395989895 | NUP93 | c.1400T>G (p.Phe467Cys) c.1031T>G (p.Phe344Cys) n.642T>G | |
16 | g.56833270C>A | CA395989896 | NUP93 | c.1401C>A (p.Phe467Leu) c.1032C>A (p.Phe344Leu) n.643C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833270C= | CA2224332216 | NUP93 | c.1401C= (p.Phe467=) c.1032C= (p.Phe344=) n.643C= | |
16 | g.56833270C>G | CA395989897 | NUP93 | c.1401C>G (p.Phe467Leu) c.1032C>G (p.Phe344Leu) n.643C>G | |
16 | g.56833270C>T | CA8068421 | NUP93 | c.1401C>T (p.Phe467=) c.1032C>T (p.Phe344=) n.643C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833271C>A | CA395989903 | NUP93 | c.1402C>A (p.Leu468Met) c.1033C>A (p.Leu345Met) n.644C>A | |
16 | g.56833271C= | CA2224332217 | NUP93 | c.1402C= (p.Leu468=) c.1033C= (p.Leu345=) n.644C= | |
16 | g.56833271C>G | CA395989901 | NUP93 | c.1402C>G (p.Leu468Val) c.1033C>G (p.Leu345Val) n.644C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833271C>T | CA495600316 | NUP93 | c.1402C>T (p.Leu468=) c.1033C>T (p.Leu345=) n.644C>T | |
16 | g.56833272T>A | CA395989905 | NUP93 | c.1403T>A (p.Leu468Gln) c.1034T>A (p.Leu345Gln) n.645T>A | |
16 | g.56833272T>C | CA395989908 | NUP93 | c.1403T>C (p.Leu468Pro) c.1034T>C (p.Leu345Pro) n.645T>C | |
16 | g.56833272T>G | CA395989910 | NUP93 | c.1403T>G (p.Leu468Arg) c.1034T>G (p.Leu345Arg) n.645T>G | |
16 | g.56833273G>A | CA495600317 | NUP93 | c.1404G>A (p.Leu468=) c.1035G>A (p.Leu345=) n.646G>A | |
16 | g.56833273G>C | CA495600319 | NUP93 | c.1404G>C (p.Leu468=) c.1035G>C (p.Leu345=) n.646G>C | gnomAD v4 |
16 | g.56833273G>T | CA495600318 | NUP93 | c.1404G>T (p.Leu468=) c.1035G>T (p.Leu345=) n.646G>T | |
16 | g.56833274A>C | CA395989913 | NUP93 | c.1405A>C (p.Thr469Pro) c.1036A>C (p.Thr346Pro) n.647A>C | |
16 | g.56833274A>G | CA395989915 | NUP93 | c.1405A>G (p.Thr469Ala) c.1036A>G (p.Thr346Ala) n.647A>G | |
16 | g.56833274A>T | CA395989917 | NUP93 | c.1405A>T (p.Thr469Ser) c.1036A>T (p.Thr346Ser) n.647A>T | |
16 | g.56833275C>A | CA395989920 | NUP93 | c.1406C>A (p.Thr469Lys) c.1037C>A (p.Thr346Lys) n.648C>A | |
16 | g.56833275C>G | CA395989922 | NUP93 | c.1406C>G (p.Thr469Arg) c.1037C>G (p.Thr346Arg) n.648C>G | |
16 | g.56833275C>T | CA395989924 | NUP93 | c.1406C>T (p.Thr469Ile) c.1037C>T (p.Thr346Ile) n.648C>T | |
16 | g.56833276A= | CA2224332218 | NUP93 | c.1407A= (p.Thr469=) c.1038A= (p.Thr346=) n.649A= | |
16 | g.56833276A>C | CA495600356 | NUP93 | c.1407A>C (p.Thr469=) c.1038A>C (p.Thr346=) n.649A>C | gnomAD v4 |
16 | g.56833276A>G | CA281497176 | NUP93 | c.1407A>G (p.Thr469=) c.1038A>G (p.Thr346=) n.649A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833276A>T | CA495600357 | NUP93 | c.1407A>T (p.Thr469=) c.1038A>T (p.Thr346=) n.649A>T | |
16 | g.56833277G>A | CA395989928 | NUP93 | c.1408G>A (p.Ala470Thr) c.1039G>A (p.Ala347Thr) n.650G>A | dbSNP |
16 | g.56833277G>C | CA395989930 | NUP93 | c.1408G>C (p.Ala470Pro) c.1039G>C (p.Ala347Pro) n.650G>C | |
16 | g.56833277G= | CA2224332219 | NUP93 | c.1408G= (p.Ala470=) c.1039G= (p.Ala347=) n.650G= | |
16 | g.56833277G>T | CA395989932 | NUP93 | c.1408G>T (p.Ala470Ser) c.1039G>T (p.Ala347Ser) n.650G>T | |
16 | g.56833278C>A | CA395989936 | NUP93 | c.1409C>A (p.Ala470Glu) c.1040C>A (p.Ala347Glu) n.651C>A | |
16 | g.56833278C= | CA2224332220 | NUP93 | c.1409C= (p.Ala470=) c.1040C= (p.Ala347=) n.651C= | |
16 | g.56833278C>G | CA395989939 | NUP93 | c.1409C>G (p.Ala470Gly) c.1040C>G (p.Ala347Gly) n.651C>G | |
16 | g.56833278C>T | CA8068422 | NUP93 | c.1409C>T (p.Ala470Val) c.1040C>T (p.Ala347Val) n.651C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833278_56833288delinsCGCAGTTTGAA | CA2224332221 | NUP93 | c.1409_1419delinsCGCAGTTTGAA (p.Ala470=) c.1040_1050delinsCGCAGTTTGAA (p.Ala347=) n.651_661delinsCGCAGTTTGAA | |
16 | g.56833279G>A | CA8068423 | NUP93 | c.1410G>A (p.Ala470=) c.1041G>A (p.Ala347=) n.652G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833279G>C | CA495600358 | NUP93 | c.1410G>C (p.Ala470=) c.1041G>C (p.Ala347=) n.652G>C | |
16 | g.56833279G= | CA2224332222 | NUP93 | c.1410G= (p.Ala470=) c.1041G= (p.Ala347=) n.652G= | |
16 | g.56833279G>T | CA8068424 | NUP93 | c.1410G>T (p.Ala470=) c.1041G>T (p.Ala347=) n.652G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833283_56833292del | CA977660841 | NUP93 | c.1414_1423del (p.Phe472GlnfsTer18) c.1045_1054del (p.Phe349GlnfsTer18) n.656_665del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833280C>A | CA395989943 | NUP93 | c.1411C>A (p.Gln471Lys) c.1042C>A (p.Gln348Lys) n.653C>A | |
16 | g.56833280C>G | CA395989944 | NUP93 | c.1411C>G (p.Gln471Glu) c.1042C>G (p.Gln348Glu) n.653C>G | |
16 | g.56833280C>T | CA395989947 | NUP93 | c.1411C>T (p.Gln471Ter) c.1042C>T (p.Gln348Ter) n.653C>T | |
16 | g.56833281A>C | CA395989949 | NUP93 | c.1412A>C (p.Gln471Pro) c.1043A>C (p.Gln348Pro) n.654A>C | |
16 | g.56833281A>G | CA395989951 | NUP93 | c.1412A>G (p.Gln471Arg) c.1043A>G (p.Gln348Arg) n.654A>G | |
16 | g.56833281A>T | CA395989952 | NUP93 | c.1412A>T (p.Gln471Leu) c.1043A>T (p.Gln348Leu) n.654A>T | |
16 | g.56833282G>A | CA495600360 | NUP93 | c.1413G>A (p.Gln471=) c.1044G>A (p.Gln348=) n.655G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833282G>C | CA395989956 | NUP93 | c.1413G>C (p.Gln471His) c.1044G>C (p.Gln348His) n.655G>C | |
16 | g.56833282G= | CA2224332223 | NUP93 | c.1413G= (p.Gln471=) c.1044G= (p.Gln348=) n.655G= | |
16 | g.56833282G>T | CA395989957 | NUP93 | c.1413G>T (p.Gln471His) c.1044G>T (p.Gln348His) n.655G>T | |
16 | g.56833283T>A | CA395989959 | NUP93 | c.1414T>A (p.Phe472Ile) c.1045T>A (p.Phe349Ile) n.656T>A | |
16 | g.56833283T>C | CA395989970 | NUP93 | c.1414T>C (p.Phe472Leu) c.1045T>C (p.Phe349Leu) n.656T>C | |
16 | g.56833283T>G | CA395989973 | NUP93 | c.1414T>G (p.Phe472Val) c.1045T>G (p.Phe349Val) n.656T>G | |
16 | g.56833284T>A | CA395989980 | NUP93 | c.1415T>A (p.Phe472Tyr) c.1046T>A (p.Phe349Tyr) n.657T>A | |
16 | g.56833284T>C | CA395989978 | NUP93 | c.1415T>C (p.Phe472Ser) c.1046T>C (p.Phe349Ser) n.657T>C | |
16 | g.56833284T>G | CA395989976 | NUP93 | c.1415T>G (p.Phe472Cys) c.1046T>G (p.Phe349Cys) n.657T>G | |
16 | g.56833285T>A | CA395989982 | NUP93 | c.1416T>A (p.Phe472Leu) c.1047T>A (p.Phe349Leu) n.658T>A | |
16 | g.56833285T>C | CA495600362 | NUP93 | c.1416T>C (p.Phe472=) c.1047T>C (p.Phe349=) n.658T>C | dbSNP |
16 | g.56833285T>G | CA395989985 | NUP93 | c.1416T>G (p.Phe472Leu) c.1047T>G (p.Phe349Leu) n.658T>G | gnomAD v4 |
16 | g.56833286G>A | CA395989987 | NUP93 | c.1417G>A (p.Glu473Lys) c.1048G>A (p.Glu350Lys) n.659G>A | gnomAD v4 |
16 | g.56833286G>C | CA395989989 | NUP93 | c.1417G>C (p.Glu473Gln) c.1048G>C (p.Glu350Gln) n.659G>C | |
16 | g.56833286G>T | CA395989991 | NUP93 | c.1417G>T (p.Glu473Ter) c.1048G>T (p.Glu350Ter) n.659G>T | |
16 | g.56833287A>C | CA395989994 | NUP93 | c.1418A>C (p.Glu473Ala) c.1049A>C (p.Glu350Ala) n.660A>C | |
16 | g.56833287A>G | CA395989995 | NUP93 | c.1418A>G (p.Glu473Gly) c.1049A>G (p.Glu350Gly) n.660A>G | |
16 | g.56833287A>T | CA395989997 | NUP93 | c.1418A>T (p.Glu473Val) c.1049A>T (p.Glu350Val) n.660A>T | |
16 | g.56833288A>C | CA395990000 | NUP93 | c.1419A>C (p.Glu473Asp) c.1050A>C (p.Glu350Asp) n.661A>C | |
16 | g.56833288A>G | CA495600365 | NUP93 | c.1419A>G (p.Glu473=) c.1050A>G (p.Glu350=) n.661A>G | |
16 | g.56833288A>T | CA395990002 | NUP93 | c.1419A>T (p.Glu473Asp) c.1050A>T (p.Glu350Asp) n.661A>T | |
16 | g.56833289G>A | CA395990005 | NUP93 | c.1420G>A (p.Ala474Thr) c.1051G>A (p.Ala351Thr) n.662G>A | |
16 | g.56833289G>C | CA395990006 | NUP93 | c.1420G>C (p.Ala474Pro) c.1051G>C (p.Ala351Pro) n.662G>C | |
16 | g.56833289G>T | CA395990007 | NUP93 | c.1420G>T (p.Ala474Ser) c.1051G>T (p.Ala351Ser) n.662G>T | |
16 | g.56833290C>A | CA395990011 | NUP93 | c.1421C>A (p.Ala474Glu) c.1052C>A (p.Ala351Glu) n.663C>A | |
16 | g.56833290C= | CA2224332224 | NUP93 | c.1421C= (p.Ala474=) c.1052C= (p.Ala351=) n.663C= | |
16 | g.56833290C>G | CA395990013 | NUP93 | c.1421C>G (p.Ala474Gly) c.1052C>G (p.Ala351Gly) n.663C>G | gnomAD v4 |
16 | g.56833290C>T | CA395990009 | NUP93 | c.1421C>T (p.Ala474Val) c.1052C>T (p.Ala351Val) n.663C>T | dbSNP gnomAD v4 |
16 | g.56833291A>C | CA495600366 | NUP93 | c.1422A>C (p.Ala474=) c.1053A>C (p.Ala351=) n.664A>C | |
16 | g.56833291A>G | CA495600367 | NUP93 | c.1422A>G (p.Ala474=) c.1053A>G (p.Ala351=) n.664A>G | gnomAD v4 |
16 | g.56833291A>T | CA495600368 | NUP93 | c.1422A>T (p.Ala474=) c.1053A>T (p.Ala351=) n.664A>T | |
16 | g.56833292G>A | CA395990017 | NUP93 | c.1423G>A (p.Ala475Thr) c.1054G>A (p.Ala352Thr) n.665G>A | |
16 | g.56833292G>C | CA395990019 | NUP93 | c.1423G>C (p.Ala475Pro) c.1054G>C (p.Ala352Pro) n.665G>C | |
16 | g.56833292G= | CA2224332225 | NUP93 | c.1423G= (p.Ala475=) c.1054G= (p.Ala352=) n.665G= | |
16 | g.56833292G>T | CA8068425 | NUP93 | c.1423G>T (p.Ala475Ser) c.1054G>T (p.Ala352Ser) n.665G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833293C>A | CA395990023 | NUP93 | c.1424C>A (p.Ala475Glu) c.1055C>A (p.Ala352Glu) n.666C>A | |
16 | g.56833293C= | CA2224332226 | NUP93 | c.1424C= (p.Ala475=) c.1055C= (p.Ala352=) n.666C= | |
16 | g.56833293C>G | CA8068426 | NUP93 | c.1424C>G (p.Ala475Gly) c.1055C>G (p.Ala352Gly) n.666C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833293C>T | CA395990026 | NUP93 | c.1424C>T (p.Ala475Val) c.1055C>T (p.Ala352Val) n.666C>T | |
16 | g.56833294A>C | CA495600369 | NUP93 | c.1425A>C (p.Ala475=) c.1056A>C (p.Ala352=) n.667A>C | |
16 | g.56833294A>G | CA495600370 | NUP93 | c.1425A>G (p.Ala475=) c.1056A>G (p.Ala352=) n.667A>G | |
16 | g.56833294A>T | CA495600371 | NUP93 | c.1425A>T (p.Ala475=) c.1056A>T (p.Ala352=) n.667A>T | |
16 | g.56833295G>A | CA8068427 | NUP93 | c.1426G>A (p.Val476Ile) c.1057G>A (p.Val353Ile) n.668G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833295G>C | CA395990031 | NUP93 | c.1426G>C (p.Val476Leu) c.1057G>C (p.Val353Leu) n.668G>C | |
16 | g.56833295G= | CA2224332227 | NUP93 | c.1426G= (p.Val476=) c.1057G= (p.Val353=) n.668G= | |
16 | g.56833295G>T | CA395990033 | NUP93 | c.1426G>T (p.Val476Phe) c.1057G>T (p.Val353Phe) n.668G>T | |
16 | g.56833296T>A | CA395990035 | NUP93 | c.1427T>A (p.Val476Asp) c.1058T>A (p.Val353Asp) n.669T>A | |
16 | g.56833296T>C | CA395990037 | NUP93 | c.1427T>C (p.Val476Ala) c.1058T>C (p.Val353Ala) n.669T>C | gnomAD v4 |
16 | g.56833296T>G | CA395990039 | NUP93 | c.1427T>G (p.Val476Gly) c.1058T>G (p.Val353Gly) n.669T>G | |
16 | g.56833297T>A | CA495600373 | NUP93 | c.1428T>A (p.Val476=) c.1059T>A (p.Val353=) n.670T>A | |
16 | g.56833297T>C | CA495600374 | NUP93 | c.1428T>C (p.Val476=) c.1059T>C (p.Val353=) n.670T>C | |
16 | g.56833297T>G | CA495600375 | NUP93 | c.1428T>G (p.Val476=) c.1059T>G (p.Val353=) n.670T>G | |
16 | g.56833298G>A | CA395990046 | NUP93 | c.1429G>A (p.Ala477Thr) c.1060G>A (p.Ala354Thr) n.671G>A | |
16 | g.56833298G>C | CA395990042 | NUP93 | c.1429G>C (p.Ala477Pro) c.1060G>C (p.Ala354Pro) n.671G>C | |
16 | g.56833298G>T | CA395990044 | NUP93 | c.1429G>T (p.Ala477Ser) c.1060G>T (p.Ala354Ser) n.671G>T | |
16 | g.56833299C>A | CA395990049 | NUP93 | c.1430C>A (p.Ala477Asp) c.1061C>A (p.Ala354Asp) n.672C>A | |
16 | g.56833299C>G | CA395990051 | NUP93 | c.1430C>G (p.Ala477Gly) c.1061C>G (p.Ala354Gly) n.672C>G | |
16 | g.56833299C>T | CA395990053 | NUP93 | c.1430C>T (p.Ala477Val) c.1061C>T (p.Ala354Val) n.672C>T | |
16 | g.56833300C>A | CA495600376 | NUP93 | c.1431C>A (p.Ala477=) c.1062C>A (p.Ala354=) n.673C>A | |
16 | g.56833300C= | CA2224332228 | NUP93 | c.1431C= (p.Ala477=) c.1062C= (p.Ala354=) n.673C= | |
16 | g.56833300C>G | CA495600377 | NUP93 | c.1431C>G (p.Ala477=) c.1062C>G (p.Ala354=) n.673C>G | dbSNP gnomAD v4 |
16 | g.56833300C>T | CA495600378 | NUP93 | c.1431C>T (p.Ala477=) c.1062C>T (p.Ala354=) n.673C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833301T>A | CA395990055 | NUP93 | c.1432T>A (p.Phe478Ile) c.1063T>A (p.Phe355Ile) n.674T>A | |
16 | g.56833301T>C | CA395990057 | NUP93 | c.1432T>C (p.Phe478Leu) c.1063T>C (p.Phe355Leu) n.674T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833301T>G | CA395990060 | NUP93 | c.1432T>G (p.Phe478Val) c.1063T>G (p.Phe355Val) n.674T>G | |
16 | g.56833302T>A | CA395990061 | NUP93 | c.1433T>A (p.Phe478Tyr) c.1064T>A (p.Phe355Tyr) n.675T>A | |
16 | g.56833302T>C | CA395990062 | NUP93 | c.1433T>C (p.Phe478Ser) c.1064T>C (p.Phe355Ser) n.675T>C | |
16 | g.56833302T>G | CA395990065 | NUP93 | c.1433T>G (p.Phe478Cys) c.1064T>G (p.Phe355Cys) n.675T>G | |
16 | g.56833303T>A | CA395990066 | NUP93 | c.1434T>A (p.Phe478Leu) c.1065T>A (p.Phe355Leu) n.676T>A | |
16 | g.56833303T>C | CA495600379 | NUP93 | c.1434T>C (p.Phe478=) c.1065T>C (p.Phe355=) n.676T>C | |
16 | g.56833303T>G | CA395990068 | NUP93 | c.1434T>G (p.Phe478Leu) c.1065T>G (p.Phe355Leu) n.676T>G | |
16 | g.56833304C>A | CA395990075 | NUP93 | c.1435C>A (p.Leu479Ile) c.1066C>A (p.Leu356Ile) n.677C>A | |
16 | g.56833304C= | CA2224332229 | NUP93 | c.1435C= (p.Leu479=) c.1066C= (p.Leu356=) n.677C= | |
16 | g.56833304C>G | CA395990073 | NUP93 | c.1435C>G (p.Leu479Val) c.1066C>G (p.Leu356Val) n.677C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833304C>T | CA395990071 | NUP93 | c.1435C>T (p.Leu479Phe) c.1066C>T (p.Leu356Phe) n.677C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833305T>A | CA395990078 | NUP93 | c.1436T>A (p.Leu479His) c.1067T>A (p.Leu356His) n.678T>A | |
16 | g.56833305T>C | CA395990082 | NUP93 | c.1436T>C (p.Leu479Pro) c.1067T>C (p.Leu356Pro) n.678T>C | gnomAD v4 |
16 | g.56833305T>G | CA395990080 | NUP93 | c.1436T>G (p.Leu479Arg) c.1067T>G (p.Leu356Arg) n.678T>G | |
16 | g.56833308del | CA2633366288 | NUP93 | c.1439del (p.Phe480SerfsTer13) c.1070del (p.Phe357SerfsTer13) n.681del | gnomAD v4 |
16 | g.56833306T>A | CA495600380 | NUP93 | c.1437T>A (p.Leu479=) c.1068T>A (p.Leu356=) n.679T>A | |
16 | g.56833306T>C | CA495600381 | NUP93 | c.1437T>C (p.Leu479=) c.1068T>C (p.Leu356=) n.679T>C | |
16 | g.56833306T>G | CA495600382 | NUP93 | c.1437T>G (p.Leu479=) c.1068T>G (p.Leu356=) n.679T>G | |
16 | g.56833307T>A | CA395990085 | NUP93 | c.1438T>A (p.Phe480Ile) c.1069T>A (p.Phe357Ile) n.680T>A | |
16 | g.56833307T>C | CA395990089 | NUP93 | c.1438T>C (p.Phe480Leu) c.1069T>C (p.Phe357Leu) n.680T>C | |
16 | g.56833307T>G | CA395990087 | NUP93 | c.1438T>G (p.Phe480Val) c.1069T>G (p.Phe357Val) n.680T>G | |
16 | g.56833308T>A | CA395990092 | NUP93 | c.1439T>A (p.Phe480Tyr) c.1070T>A (p.Phe357Tyr) n.681T>A | |
16 | g.56833308T>C | CA395990093 | NUP93 | c.1439T>C (p.Phe480Ser) c.1070T>C (p.Phe357Ser) n.681T>C | |
16 | g.56833308T>G | CA395990096 | NUP93 | c.1439T>G (p.Phe480Cys) c.1070T>G (p.Phe357Cys) n.681T>G |