| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133775384G>T | CA2667772083 | TF | c.1688-49G>T (n.1688-49G>T) c.419-49G>T n.2633G>T c.1556-49G>T (n.1556-49G>T) c.1307-49G>T (n.1307-49G>T) | gnomAD v4 |
| 3 | g.133775385G>A | CA2667772084 | TF | c.1688-48G>A (n.1688-48G>A) c.419-48G>A n.2634G>A c.1556-48G>A (n.1556-48G>A) c.1307-48G>A (n.1307-48G>A) | gnomAD v4 |
| 3 | g.133775386C>A | CA1403130688 | TF | c.1688-47C>A (n.1688-47C>A) c.419-47C>A n.2635C>A c.1556-47C>A (n.1556-47C>A) c.1307-47C>A (n.1307-47C>A) | dbSNP gnomAD v4 |
| 3 | g.133775386C= | CA1403130687 | TF | c.1688-47C= (n.1688-47C=) c.419-47C= n.2635C= c.1556-47C= (n.1556-47C=) c.1307-47C= (n.1307-47C=) | |
| 3 | g.133775388C= | CA1403130691 | TF | c.1688-45C= (n.1688-45C=) c.419-45C= n.2637C= c.1556-45C= (n.1556-45C=) c.1307-45C= (n.1307-45C=) | |
| 3 | g.133775388C>G | CA1403130692 | TF | c.1688-45C>G (n.1688-45C>G) c.419-45C>G n.2637C>G c.1556-45C>G (n.1556-45C>G) c.1307-45C>G (n.1307-45C>G) | dbSNP |
| 3 | g.133775389C>T | CA2667772085 | TF | c.1688-44C>T (n.1688-44C>T) c.419-44C>T n.2638C>T c.1556-44C>T (n.1556-44C>T) c.1307-44C>T (n.1307-44C>T) | gnomAD v4 |
| 3 | g.133775391del | CA2667772086 | TF | c.1688-42del (n.1688-42del) c.419-42del n.2640del c.1556-42del (n.1556-42del) c.1307-42del (n.1307-42del) | gnomAD v4 |
| 3 | g.133775392G>A | CA2758476177 | TF | c.1688-41G>A (n.1688-41G>A) c.419-41G>A n.2641G>A c.1556-41G>A (n.1556-41G>A) c.1307-41G>A (n.1307-41G>A) | |
| 3 | g.133775393A>G | CA2577907399 | TF | c.1688-40A>G (n.1688-40A>G) c.419-40A>G n.2642A>G c.1556-40A>G (n.1556-40A>G) c.1307-40A>G (n.1307-40A>G) | |
| 3 | g.133775394C>A | CA2625394 | TF | c.1688-39C>A (n.1688-39C>A) c.419-39C>A n.2643C>A c.1556-39C>A (n.1556-39C>A) c.1307-39C>A (n.1307-39C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775394C= | CA1403130695 | TF | c.1688-39C= (n.1688-39C=) c.419-39C= n.2643C= c.1556-39C= (n.1556-39C=) c.1307-39C= (n.1307-39C=) | |
| 3 | g.133775394C>T | CA2667772087 | TF | c.1688-39C>T (n.1688-39C>T) c.419-39C>T n.2643C>T c.1556-39C>T (n.1556-39C>T) c.1307-39C>T (n.1307-39C>T) | gnomAD v4 |
| 3 | g.133775398A= | CA1403130697 | TF | c.1688-35A= (n.1688-35A=) c.419-35A= n.2647A= c.1556-35A= (n.1556-35A=) c.1307-35A= (n.1307-35A=) | |
| 3 | g.133775398A>G | CA546420543 | TF | c.1688-35A>G (n.1688-35A>G) c.419-35A>G n.2647A>G c.1556-35A>G (n.1556-35A>G) c.1307-35A>G (n.1307-35A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775399G= | CA1403130699 | TF | c.1688-34G= (n.1688-34G=) c.419-34G= n.2648G= c.1556-34G= (n.1556-34G=) c.1307-34G= (n.1307-34G=) | |
| 3 | g.133775399G>T | CA2625395 | TF | c.1688-34G>T (n.1688-34G>T) c.419-34G>T n.2648G>T c.1556-34G>T (n.1556-34G>T) c.1307-34G>T (n.1307-34G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775402A= | CA1403130701 | TF | c.1688-31A= (n.1688-31A=) c.419-31A= n.2651A= c.1556-31A= (n.1556-31A=) c.1307-31A= (n.1307-31A=) | |
| 3 | g.133775402A>G | CA2625396 | TF | c.1688-31A>G (n.1688-31A>G) c.419-31A>G n.2651A>G c.1556-31A>G (n.1556-31A>G) c.1307-31A>G (n.1307-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775403T>G | CA546420544 | TF | c.1688-30T>G (n.1688-30T>G) c.419-30T>G n.2652T>G c.1556-30T>G (n.1556-30T>G) c.1307-30T>G (n.1307-30T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775403T= | CA1403130703 | TF | c.1688-30T= (n.1688-30T=) c.419-30T= n.2652T= c.1556-30T= (n.1556-30T=) c.1307-30T= (n.1307-30T=) | |
| 3 | g.133775404C= | CA1403130705 | TF | c.1688-29C= (n.1688-29C=) c.419-29C= n.2653C= c.1556-29C= (n.1556-29C=) c.1307-29C= (n.1307-29C=) | |
| 3 | g.133775404C>T | CA899131382 | TF | c.1688-29C>T (n.1688-29C>T) c.419-29C>T n.2653C>T c.1556-29C>T (n.1556-29C>T) c.1307-29C>T (n.1307-29C>T) | dbSNP |
| 3 | g.133775408T>C | CA546420545 | TF | c.1688-25T>C (n.1688-25T>C) c.419-25T>C n.2657T>C c.1556-25T>C (n.1556-25T>C) c.1307-25T>C (n.1307-25T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775408T>G | CA2667772088 | TF | c.1688-25T>G (n.1688-25T>G) c.419-25T>G n.2657T>G c.1556-25T>G (n.1556-25T>G) c.1307-25T>G (n.1307-25T>G) | gnomAD v4 |
| 3 | g.133775408T= | CA1403130707 | TF | c.1688-25T= (n.1688-25T=) c.419-25T= n.2657T= c.1556-25T= (n.1556-25T=) c.1307-25T= (n.1307-25T=) | |
| 3 | g.133775409del | CA2667772089 | TF | c.1688-24del (n.1688-24del) c.419-24del n.2658del c.1556-24del (n.1556-24del) c.1307-24del (n.1307-24del) | gnomAD v4 |
| 3 | g.133775411A= | CA1403130708 | TF | c.1688-22A= (n.1688-22A=) c.419-22A= n.2660A= c.1556-22A= (n.1556-22A=) c.1307-22A= (n.1307-22A=) | |
| 3 | g.133775411A>T | CA2625397 | TF | c.1688-22A>T (n.1688-22A>T) c.419-22A>T n.2660A>T c.1556-22A>T (n.1556-22A>T) c.1307-22A>T (n.1307-22A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775412C>T | CA2667772090 | TF | c.1688-21C>T (n.1688-21C>T) c.419-21C>T n.2661C>T c.1556-21C>T (n.1556-21C>T) c.1307-21C>T (n.1307-21C>T) | gnomAD v4 |
| 3 | g.133775413C>T | CA2667772091 | TF | c.1688-20C>T (n.1688-20C>T) c.419-20C>T n.2662C>T c.1556-20C>T (n.1556-20C>T) c.1307-20C>T (n.1307-20C>T) | gnomAD v4 |
| 3 | g.133775414A>G | CA2667772092 | TF | c.1688-19A>G (n.1688-19A>G) c.419-19A>G n.2663A>G c.1556-19A>G (n.1556-19A>G) c.1307-19A>G (n.1307-19A>G) | gnomAD v4 |
| 3 | g.133775415C= | CA1403130709 | TF | c.1688-18C= (n.1688-18C=) c.419-18C= n.2664C= c.1556-18C= (n.1556-18C=) c.1307-18C= (n.1307-18C=) | |
| 3 | g.133775415C>T | CA899131385 | TF | c.1688-18C>T (n.1688-18C>T) c.419-18C>T n.2664C>T c.1556-18C>T (n.1556-18C>T) c.1307-18C>T (n.1307-18C>T) | dbSNP gnomAD v4 |
| 3 | g.133775419C= | CA1403130710 | TF | c.1688-14C= (n.1688-14C=) c.419-14C= n.2668C= c.1556-14C= (n.1556-14C=) c.1307-14C= (n.1307-14C=) | |
| 3 | g.133775419C>T | CA83692684 | TF | c.1688-14C>T (n.1688-14C>T) c.419-14C>T n.2668C>T c.1556-14C>T (n.1556-14C>T) c.1307-14C>T (n.1307-14C>T) | dbSNP gnomAD v4 |
| 3 | g.133775420T>C | CA2667772093 | TF | c.1688-13T>C (n.1688-13T>C) c.419-13T>C n.2669T>C c.1556-13T>C (n.1556-13T>C) c.1307-13T>C (n.1307-13T>C) | gnomAD v4 |
| 3 | g.133775420T>G | CA2667772094 | TF | c.1688-13T>G (n.1688-13T>G) c.419-13T>G n.2669T>G c.1556-13T>G (n.1556-13T>G) c.1307-13T>G (n.1307-13T>G) | gnomAD v4 |
| 3 | g.133775423C= | CA1403130712 | TF | c.1688-10C= (n.1688-10C=) c.419-10C= n.2672C= c.1556-10C= (n.1556-10C=) c.1307-10C= (n.1307-10C=) | |
| 3 | g.133775423C>T | CA546420546 | TF | c.1688-10C>T (n.1688-10C>T) c.419-10C>T n.2672C>T c.1556-10C>T (n.1556-10C>T) c.1307-10C>T (n.1307-10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775425G>A | CA546420547 | TF | c.1688-8G>A (n.1688-8G>A) c.419-8G>A n.2674G>A c.1556-8G>A (n.1556-8G>A) c.1307-8G>A (n.1307-8G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775425G= | CA1403130714 | TF | c.1688-8G= (n.1688-8G=) c.419-8G= n.2674G= c.1556-8G= (n.1556-8G=) c.1307-8G= (n.1307-8G=) | |
| 3 | g.133775427C>T | CA2697556850 | TF | c.1688-6C>T (n.1688-6C>T) c.419-6C>T n.2676C>T c.1556-6C>T (n.1556-6C>T) c.1307-6C>T (n.1307-6C>T) | ClinVar |
| 3 | g.133775428C>A | CA2667772095 | TF | c.1688-5C>A (n.1688-5C>A) c.419-5C>A n.2677C>A c.1556-5C>A (n.1556-5C>A) c.1307-5C>A (n.1307-5C>A) | gnomAD v4 |
| 3 | g.133775429C>A | CA2625398 | TF | c.1688-4C>A (n.1688-4C>A) c.419-4C>A n.2678C>A c.1556-4C>A (n.1556-4C>A) c.1307-4C>A (n.1307-4C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775429C= | CA1403130717 | TF | c.1688-4C= (n.1688-4C=) c.419-4C= n.2678C= c.1556-4C= (n.1556-4C=) c.1307-4C= (n.1307-4C=) | |
| 3 | g.133775429C>G | CA546420548 | TF | c.1688-4C>G (n.1688-4C>G) c.419-4C>G n.2678C>G c.1556-4C>G (n.1556-4C>G) c.1307-4C>G (n.1307-4C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775431A= | CA1403130720 | TF | c.1688-2A= (n.1688-2A=) c.419-2A= n.2680A= c.1556-2A= (n.1556-2A=) c.1307-2A= (n.1307-2A=) | |
| 3 | g.133775431A>C | CA354610037 | TF | c.1688-2A>C (n.1688-2A>C) c.419-2A>C n.2680A>C c.1556-2A>C (n.1556-2A>C) c.1307-2A>C (n.1307-2A>C) | |
| 3 | g.133775431A>G | CA2625399 | TF | c.1688-2A>G (n.1688-2A>G) c.419-2A>G n.2680A>G c.1556-2A>G (n.1556-2A>G) c.1307-2A>G (n.1307-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775431A>T | CA354610035 | TF | c.1688-2A>T (n.1688-2A>T) c.419-2A>T n.2680A>T c.1556-2A>T (n.1556-2A>T) c.1307-2A>T (n.1307-2A>T) | |
| 3 | g.133775432G>A | CA354610040 | TF | c.1688-1G>A (n.1688-1G>A) c.419-1G>A n.2681G>A c.1556-1G>A (n.1556-1G>A) c.1307-1G>A (n.1307-1G>A) | gnomAD v4 |
| 3 | g.133775432G>C | CA354610041 | TF | c.1688-1G>C (n.1688-1G>C) c.419-1G>C n.2681G>C c.1556-1G>C (n.1556-1G>C) c.1307-1G>C (n.1307-1G>C) | |
| 3 | g.133775432G>T | CA354610043 | TF | c.1688-1G>T (n.1688-1G>T) c.419-1G>T n.2681G>T c.1556-1G>T (n.1556-1G>T) c.1307-1G>T (n.1307-1G>T) | |
| 3 | g.133775433G>A | CA83692721 | TF | c.1688G>A (p.Gly563Glu) c.419G>A n.2682G>A c.1556G>A (p.Gly519Glu) c.1307G>A (p.Gly436Glu) | dbSNP COSMIC |
| 3 | g.133775433G>C | CA354610046 | TF | c.1688G>C (p.Gly563Ala) c.419G>C n.2682G>C c.1556G>C (p.Gly519Ala) c.1307G>C (p.Gly436Ala) | |
| 3 | g.133775433G= | CA1403130724 | TF | c.1688G= (p.Gly563=) c.419G= n.2682G= c.1556G= (p.Gly519=) c.1307G= (p.Gly436=) | |
| 3 | g.133775433G>T | CA354610047 | TF | c.1688G>T (p.Gly563Val) c.419G>T n.2682G>T c.1556G>T (p.Gly519Val) c.1307G>T (p.Gly436Val) | |
| 3 | g.133775434A>C | CA435815795 | TF | c.1689A>C (p.Gly563=) c.420A>C n.2683A>C c.1557A>C (p.Gly519=) c.1308A>C (p.Gly436=) | |
| 3 | g.133775434A>G | CA435815796 | TF | c.1689A>G (p.Gly563=) c.420A>G n.2683A>G c.1557A>G (p.Gly519=) c.1308A>G (p.Gly436=) | |
| 3 | g.133775434A>T | CA435815797 | TF | c.1689A>T (p.Gly563=) c.420A>T n.2683A>T c.1557A>T (p.Gly519=) c.1308A>T (p.Gly436=) | |
| 3 | g.133775439dup | CA2667772096 | TF | c.1694dup (p.Asn565LysfsTer3) c.425dup n.2688dup c.1562dup (p.Asn521LysfsTer3) c.1313dup (p.Asn438LysfsTer3) | gnomAD v4 |
| 3 | g.133775438_133775439dup | CA2758476178 | TF | c.1693_1694dup (p.Asn565LysfsTer10) c.424_425dup n.2687_2688dup c.1561_1562dup (p.Asn521LysfsTer10) c.1312_1313dup (p.Asn438LysfsTer10) | |
| 3 | g.133775439del | CA2667772097 | TF | c.1694del (p.Asn565ThrfsTer9) c.425del n.2688del c.1562del (p.Asn521ThrfsTer9) c.1313del (p.Asn438ThrfsTer9) | gnomAD v4 |
| 3 | g.133775435A= | CA1403130728 | TF | c.1690A= (p.Lys564=) c.421A= n.2684A= c.1558A= (p.Lys520=) c.1309A= (p.Lys437=) | |
| 3 | g.133775435A>C | CA354610050 | TF | c.1690A>C (p.Lys564Gln) c.421A>C n.2684A>C c.1558A>C (p.Lys520Gln) c.1309A>C (p.Lys437Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775435A>G | CA354610051 | TF | c.1690A>G (p.Lys564Glu) c.421A>G n.2684A>G c.1558A>G (p.Lys520Glu) c.1309A>G (p.Lys437Glu) | |
| 3 | g.133775435A>T | CA354610053 | TF | c.1690A>T (p.Lys564Ter) c.421A>T n.2684A>T c.1558A>T (p.Lys520Ter) c.1309A>T (p.Lys437Ter) | |
| 3 | g.133775436A>C | CA354610055 | TF | c.1691A>C (p.Lys564Thr) c.422A>C n.2685A>C c.1559A>C (p.Lys520Thr) c.1310A>C (p.Lys437Thr) | |
| 3 | g.133775436A>G | CA354610057 | TF | c.1691A>G (p.Lys564Arg) c.422A>G n.2685A>G c.1559A>G (p.Lys520Arg) c.1310A>G (p.Lys437Arg) | |
| 3 | g.133775436A>T | CA354610059 | TF | c.1691A>T (p.Lys564Ile) c.422A>T n.2685A>T c.1559A>T (p.Lys520Ile) c.1310A>T (p.Lys437Ile) | |
| 3 | g.133775437A>C | CA354610061 | TF | c.1692A>C (p.Lys564Asn) c.423A>C n.2686A>C c.1560A>C (p.Lys520Asn) c.1311A>C (p.Lys437Asn) | |
| 3 | g.133775437A>G | CA435815798 | TF | c.1692A>G (p.Lys564=) c.423A>G n.2686A>G c.1560A>G (p.Lys520=) c.1311A>G (p.Lys437=) | |
| 3 | g.133775437A>T | CA354610062 | TF | c.1692A>T (p.Lys564Asn) c.423A>T n.2686A>T c.1560A>T (p.Lys520Asn) c.1311A>T (p.Lys437Asn) | |
| 3 | g.133775438A>C | CA354610068 | TF | c.1693A>C (p.Asn565His) c.424A>C n.2687A>C c.1561A>C (p.Asn521His) c.1312A>C (p.Asn438His) | |
| 3 | g.133775438A>G | CA354610066 | TF | c.1693A>G (p.Asn565Asp) c.424A>G n.2687A>G c.1561A>G (p.Asn521Asp) c.1312A>G (p.Asn438Asp) | |
| 3 | g.133775438A>T | CA354610065 | TF | c.1693A>T (p.Asn565Tyr) c.424A>T n.2687A>T c.1561A>T (p.Asn521Tyr) c.1312A>T (p.Asn438Tyr) | |
| 3 | g.133775439A= | CA1403130730 | TF | c.1694A= (p.Asn565=) c.425A= n.2688A= c.1562A= (p.Asn521=) c.1313A= (p.Asn438=) | |
| 3 | g.133775439A>C | CA354610070 | TF | c.1694A>C (p.Asn565Thr) c.425A>C n.2688A>C c.1562A>C (p.Asn521Thr) c.1313A>C (p.Asn438Thr) | |
| 3 | g.133775439A>G | CA354610072 | TF | c.1694A>G (p.Asn565Ser) c.425A>G n.2688A>G c.1562A>G (p.Asn521Ser) c.1313A>G (p.Asn438Ser) | |
| 3 | g.133775439A>T | CA354610074 | TF | c.1694A>T (p.Asn565Ile) c.425A>T n.2688A>T c.1562A>T (p.Asn521Ile) c.1313A>T (p.Asn438Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775440C>A | CA354610076 | TF | c.1695C>A (p.Asn565Lys) c.426C>A n.2689C>A c.1563C>A (p.Asn521Lys) c.1314C>A (p.Asn438Lys) | dbSNP gnomAD v4 |
| 3 | g.133775440C= | CA1403130732 | TF | c.1695C= (p.Asn565=) c.426C= n.2689C= c.1563C= (p.Asn521=) c.1314C= (p.Asn438=) | |
| 3 | g.133775440C>G | CA354610081 | TF | c.1695C>G (p.Asn565Lys) c.426C>G n.2689C>G c.1563C>G (p.Asn521Lys) c.1314C>G (p.Asn438Lys) | |
| 3 | g.133775440C>T | CA435815799 | TF | c.1695C>T (p.Asn565=) c.426C>T n.2689C>T c.1563C>T (p.Asn521=) c.1314C>T (p.Asn438=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775441C>A | CA354610088 | TF | c.1696C>A (p.Pro566Thr) c.427C>A n.2690C>A c.1564C>A (p.Pro522Thr) c.1315C>A (p.Pro439Thr) | |
| 3 | g.133775441C= | CA1403130734 | TF | c.1696C= (p.Pro566=) c.427C= n.2690C= c.1564C= (p.Pro522=) c.1315C= (p.Pro439=) | |
| 3 | g.133775441C>G | CA354610086 | TF | c.1696C>G (p.Pro566Ala) c.427C>G n.2690C>G c.1564C>G (p.Pro522Ala) c.1315C>G (p.Pro439Ala) | |
| 3 | g.133775441C>T | CA354610085 | TF | c.1696C>T (p.Pro566Ser) c.427C>T n.2690C>T c.1564C>T (p.Pro522Ser) c.1315C>T (p.Pro439Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775442C>A | CA354610090 | TF | c.1697C>A (p.Pro566His) c.428C>A n.2691C>A c.1565C>A (p.Pro522His) c.1316C>A (p.Pro439His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775442C= | CA1403130737 | TF | c.1697C= (p.Pro566=) c.428C= n.2691C= c.1565C= (p.Pro522=) c.1316C= (p.Pro439=) | |
| 3 | g.133775442C>G | CA354610092 | TF | c.1697C>G (p.Pro566Arg) c.428C>G n.2691C>G c.1565C>G (p.Pro522Arg) c.1316C>G (p.Pro439Arg) | dbSNP |
| 3 | g.133775442C>T | CA354610094 | TF | c.1697C>T (p.Pro566Leu) c.428C>T n.2691C>T c.1565C>T (p.Pro522Leu) c.1316C>T (p.Pro439Leu) | |
| 3 | g.133775443T>A | CA435815800 | TF | c.1698T>A (p.Pro566=) c.429T>A n.2692T>A c.1566T>A (p.Pro522=) c.1317T>A (p.Pro439=) | |
| 3 | g.133775443T>C | CA435815801 | TF | c.1698T>C (p.Pro566=) c.429T>C n.2692T>C c.1566T>C (p.Pro522=) c.1317T>C (p.Pro439=) | gnomAD v4 |
| 3 | g.133775443T>G | CA435815802 | TF | c.1698T>G (p.Pro566=) c.429T>G n.2692T>G c.1566T>G (p.Pro522=) c.1317T>G (p.Pro439=) | ClinVar |
| 3 | g.133775444G>A | CA83692722 | TF | c.1699G>A (p.Asp567Asn) c.430G>A n.2693G>A c.1567G>A (p.Asp523Asn) c.1318G>A (p.Asp440Asn) | dbSNP |
| 3 | g.133775444G>C | CA354610097 | TF | c.1699G>C (p.Asp567His) c.430G>C n.2693G>C c.1567G>C (p.Asp523His) c.1318G>C (p.Asp440His) | |
| 3 | g.133775444G= | CA1403130741 | TF | c.1699G= (p.Asp567=) c.430G= n.2693G= c.1567G= (p.Asp523=) c.1318G= (p.Asp440=) | |
| 3 | g.133775444G>T | CA354610099 | TF | c.1699G>T (p.Asp567Tyr) c.430G>T n.2693G>T c.1567G>T (p.Asp523Tyr) c.1318G>T (p.Asp440Tyr) | |
| 3 | g.133775445A>C | CA354610105 | TF | c.1700A>C (p.Asp567Ala) c.431A>C n.2694A>C c.1568A>C (p.Asp523Ala) c.1319A>C (p.Asp440Ala) | |
| 3 | g.133775445A>G | CA354610102 | TF | c.1700A>G (p.Asp567Gly) c.431A>G n.2694A>G c.1568A>G (p.Asp523Gly) c.1319A>G (p.Asp440Gly) | COSMIC |
| 3 | g.133775445A>T | CA354610103 | TF | c.1700A>T (p.Asp567Val) c.431A>T n.2694A>T c.1568A>T (p.Asp523Val) c.1319A>T (p.Asp440Val) | |
| 3 | g.133775446T>A | CA354610107 | TF | c.1701T>A (p.Asp567Glu) c.432T>A n.2695T>A c.1569T>A (p.Asp523Glu) c.1320T>A (p.Asp440Glu) | |
| 3 | g.133775446T>C | CA435815803 | TF | c.1701T>C (p.Asp567=) c.432T>C n.2695T>C c.1569T>C (p.Asp523=) c.1320T>C (p.Asp440=) | dbSNP |
| 3 | g.133775446T>G | CA354610109 | TF | c.1701T>G (p.Asp567Glu) c.432T>G n.2695T>G c.1569T>G (p.Asp523Glu) c.1320T>G (p.Asp440Glu) | |
| 3 | g.133775446T= | CA1403130745 | TF | c.1701T= (p.Asp567=) c.432T= n.2695T= c.1569T= (p.Asp523=) c.1320T= (p.Asp440=) | |
| 3 | g.133775447C>A | CA354610111 | TF | c.1702C>A (p.Pro568Thr) c.433C>A n.2696C>A c.1570C>A (p.Pro524Thr) c.1321C>A (p.Pro441Thr) | dbSNP gnomAD v4 |
| 3 | g.133775447C= | CA1403130750 | TF | c.1702C= (p.Pro568=) c.433C= n.2696C= c.1570C= (p.Pro524=) c.1321C= (p.Pro441=) | |
| 3 | g.133775447C>G | CA354610113 | TF | c.1702C>G (p.Pro568Ala) c.433C>G n.2696C>G c.1570C>G (p.Pro524Ala) c.1321C>G (p.Pro441Ala) | gnomAD v4 |
| 3 | g.133775447C>T | CA354610114 | TF | c.1702C>T (p.Pro568Ser) c.433C>T n.2696C>T c.1570C>T (p.Pro524Ser) c.1321C>T (p.Pro441Ser) | |
| 3 | g.133775448C>A | CA354610117 | TF | c.1703C>A (p.Pro568Gln) c.434C>A n.2697C>A c.1571C>A (p.Pro524Gln) c.1322C>A (p.Pro441Gln) | |
| 3 | g.133775448C>G | CA354610118 | TF | c.1703C>G (p.Pro568Arg) c.434C>G n.2697C>G c.1571C>G (p.Pro524Arg) c.1322C>G (p.Pro441Arg) | |
| 3 | g.133775448C>T | CA354610120 | TF | c.1703C>T (p.Pro568Leu) c.434C>T n.2697C>T c.1571C>T (p.Pro524Leu) c.1322C>T (p.Pro441Leu) | COSMIC |
| 3 | g.133775449A= | CA1403130752 | TF | c.1704A= (p.Pro568=) c.435A= n.2698A= c.1572A= (p.Pro524=) c.1323A= (p.Pro441=) | |
| 3 | g.133775449A>C | CA435815804 | TF | c.1704A>C (p.Pro568=) c.435A>C n.2698A>C c.1572A>C (p.Pro524=) c.1323A>C (p.Pro441=) | |
| 3 | g.133775449A>G | CA2625400 | TF | c.1704A>G (p.Pro568=) c.435A>G n.2698A>G c.1572A>G (p.Pro524=) c.1323A>G (p.Pro441=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775449A>T | CA435815805 | TF | c.1704A>T (p.Pro568=) c.435A>T n.2698A>T c.1572A>T (p.Pro524=) c.1323A>T (p.Pro441=) | |
| 3 | g.133775450T>A | CA354610123 | TF | c.1705T>A (p.Trp569Arg) c.436T>A n.2699T>A c.1573T>A (p.Trp525Arg) c.1324T>A (p.Trp442Arg) | |
| 3 | g.133775450T>C | CA83692746 | TF | c.1705T>C (p.Trp569Arg) c.436T>C n.2699T>C c.1573T>C (p.Trp525Arg) c.1324T>C (p.Trp442Arg) | dbSNP gnomAD v4 |
| 3 | g.133775450T>G | CA354610126 | TF | c.1705T>G (p.Trp569Gly) c.436T>G n.2699T>G c.1573T>G (p.Trp525Gly) c.1324T>G (p.Trp442Gly) | |
| 3 | g.133775450T= | CA1403130755 | TF | c.1705T= (p.Trp569=) c.436T= n.2699T= c.1573T= (p.Trp525=) c.1324T= (p.Trp442=) | |
| 3 | g.133775451G>A | CA354610127 | TF | c.1706G>A (p.Trp569Ter) c.437G>A n.2700G>A c.1574G>A (p.Trp525Ter) c.1325G>A (p.Trp442Ter) | gnomAD v4 |
| 3 | g.133775451G>C | CA354610130 | TF | c.1706G>C (p.Trp569Ser) c.437G>C n.2700G>C c.1574G>C (p.Trp525Ser) c.1325G>C (p.Trp442Ser) | |
| 3 | g.133775451G>T | CA354610129 | TF | c.1706G>T (p.Trp569Leu) c.437G>T n.2700G>T c.1574G>T (p.Trp525Leu) c.1325G>T (p.Trp442Leu) | |
| 3 | g.133775452G>A | CA354610133 | TF | c.1707G>A (p.Trp569Ter) c.438G>A n.2701G>A c.1575G>A (p.Trp525Ter) c.1326G>A (p.Trp442Ter) | gnomAD v4 |
| 3 | g.133775452G>C | CA354610136 | TF | c.1707G>C (p.Trp569Cys) c.438G>C n.2701G>C c.1575G>C (p.Trp525Cys) c.1326G>C (p.Trp442Cys) | |
| 3 | g.133775452G= | CA1403130757 | TF | c.1707G= (p.Trp569=) c.438G= n.2701G= c.1575G= (p.Trp525=) c.1326G= (p.Trp442=) | |
| 3 | g.133775452G>T | CA354610134 | TF | c.1707G>T (p.Trp569Cys) c.438G>T n.2701G>T c.1575G>T (p.Trp525Cys) c.1326G>T (p.Trp442Cys) | dbSNP gnomAD v2 |
| 3 | g.133775453G>A | CA354610139 | TF | c.1708G>A (p.Ala570Thr) c.439G>A n.2702G>A c.1576G>A (p.Ala526Thr) c.1327G>A (p.Ala443Thr) | gnomAD v4 |
| 3 | g.133775453G>C | CA354610141 | TF | c.1708G>C (p.Ala570Pro) c.439G>C n.2702G>C c.1576G>C (p.Ala526Pro) c.1327G>C (p.Ala443Pro) | |
| 3 | g.133775453G>T | CA354610142 | TF | c.1708G>T (p.Ala570Ser) c.439G>T n.2702G>T c.1576G>T (p.Ala526Ser) c.1327G>T (p.Ala443Ser) | |
| 3 | g.133775454C>A | CA354610144 | TF | c.1709C>A (p.Ala570Asp) c.440C>A n.2703C>A c.1577C>A (p.Ala526Asp) c.1328C>A (p.Ala443Asp) | |
| 3 | g.133775454C>G | CA354610146 | TF | c.1709C>G (p.Ala570Gly) c.440C>G n.2703C>G c.1577C>G (p.Ala526Gly) c.1328C>G (p.Ala443Gly) | |
| 3 | g.133775454C>T | CA354610148 | TF | c.1709C>T (p.Ala570Val) c.440C>T n.2703C>T c.1577C>T (p.Ala526Val) c.1328C>T (p.Ala443Val) | |
| 3 | g.133775455T>A | CA435815808 | TF | c.1710T>A (p.Ala570=) c.441T>A n.2704T>A c.1578T>A (p.Ala526=) c.1329T>A (p.Ala443=) | |
| 3 | g.133775455T>C | CA435815806 | TF | c.1710T>C (p.Ala570=) c.441T>C n.2704T>C c.1578T>C (p.Ala526=) c.1329T>C (p.Ala443=) | |
| 3 | g.133775455T>G | CA435815807 | TF | c.1710T>G (p.Ala570=) c.441T>G n.2704T>G c.1578T>G (p.Ala526=) c.1329T>G (p.Ala443=) | gnomAD v4 |
| 3 | g.133775456A= | CA1403130760 | TF | c.1711A= (p.Lys571=) c.442A= n.2705A= c.1579A= (p.Lys527=) c.1330A= (p.Lys444=) | |
| 3 | g.133775456A>C | CA354610151 | TF | c.1711A>C (p.Lys571Gln) c.442A>C n.2705A>C c.1579A>C (p.Lys527Gln) c.1330A>C (p.Lys444Gln) | |
| 3 | g.133775456A>G | CA354610153 | TF | c.1711A>G (p.Lys571Glu) c.442A>G n.2705A>G c.1579A>G (p.Lys527Glu) c.1330A>G (p.Lys444Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133775456A>T | CA354610155 | TF | c.1711A>T (p.Lys571Ter) c.442A>T n.2705A>T c.1579A>T (p.Lys527Ter) c.1330A>T (p.Lys444Ter) | |
| 3 | g.133775457A>C | CA354610157 | TF | c.1712A>C (p.Lys571Thr) c.443A>C n.2706A>C c.1580A>C (p.Lys527Thr) c.1331A>C (p.Lys444Thr) | gnomAD v4 |
| 3 | g.133775457A>G | CA354610159 | TF | c.1712A>G (p.Lys571Arg) c.443A>G n.2706A>G c.1580A>G (p.Lys527Arg) c.1331A>G (p.Lys444Arg) | |
| 3 | g.133775457A>T | CA354610162 | TF | c.1712A>T (p.Lys571Met) c.443A>T n.2706A>T c.1580A>T (p.Lys527Met) c.1331A>T (p.Lys444Met) | |
| 3 | g.133775458G>A | CA435815809 | TF | c.1713G>A (p.Lys571=) c.444G>A n.2707G>A c.1581G>A (p.Lys527=) c.1332G>A (p.Lys444=) | COSMIC |
| 3 | g.133775458G>C | CA354610164 | TF | c.1713G>C (p.Lys571Asn) c.444G>C n.2707G>C c.1581G>C (p.Lys527Asn) c.1332G>C (p.Lys444Asn) | |
| 3 | g.133775458G>T | CA354610166 | TF | c.1713G>T (p.Lys571Asn) c.444G>T n.2707G>T c.1581G>T (p.Lys527Asn) c.1332G>T (p.Lys444Asn) | |
| 3 | g.133775459A>C | CA354610168 | TF | c.1714A>C (p.Asn572His) c.445A>C n.2708A>C c.1582A>C (p.Asn528His) c.1333A>C (p.Asn445His) | |
| 3 | g.133775459A>G | CA354610170 | TF | c.1714A>G (p.Asn572Asp) c.445A>G n.2708A>G c.1582A>G (p.Asn528Asp) c.1333A>G (p.Asn445Asp) | |
| 3 | g.133775459A>T | CA354610172 | TF | c.1714A>T (p.Asn572Tyr) c.445A>T n.2708A>T c.1582A>T (p.Asn528Tyr) c.1333A>T (p.Asn445Tyr) | |
| 3 | g.133775460A>C | CA354610174 | TF | c.1715A>C (p.Asn572Thr) c.446A>C n.2709A>C c.1583A>C (p.Asn528Thr) c.1334A>C (p.Asn445Thr) | |
| 3 | g.133775460A>G | CA354610176 | TF | c.1715A>G (p.Asn572Ser) c.446A>G n.2709A>G c.1583A>G (p.Asn528Ser) c.1334A>G (p.Asn445Ser) | gnomAD v4 |
| 3 | g.133775460A>T | CA354610178 | TF | c.1715A>T (p.Asn572Ile) c.446A>T n.2709A>T c.1583A>T (p.Asn528Ile) c.1334A>T (p.Asn445Ile) | |
| 3 | g.133775461T>A | CA354610181 | TF | c.1716T>A (p.Asn572Lys) c.447T>A n.2710T>A c.1584T>A (p.Asn528Lys) c.1335T>A (p.Asn445Lys) | |
| 3 | g.133775461T>C | CA435815810 | TF | c.1716T>C (p.Asn572=) c.447T>C n.2710T>C c.1584T>C (p.Asn528=) c.1335T>C (p.Asn445=) | |
| 3 | g.133775461T>G | CA354610183 | TF | c.1716T>G (p.Asn572Lys) c.447T>G n.2710T>G c.1584T>G (p.Asn528Lys) c.1335T>G (p.Asn445Lys) | gnomAD v4 |
| 3 | g.133775462C>A | CA354610185 | TF | c.1717C>A (p.Leu573Met) c.448C>A n.2711C>A c.1585C>A (p.Leu529Met) c.1336C>A (p.Leu446Met) | COSMIC |
| 3 | g.133775462C= | CA1403130764 | TF | c.1717C= (p.Leu573=) c.448C= n.2711C= c.1585C= (p.Leu529=) c.1336C= (p.Leu446=) | |
| 3 | g.133775462C>G | CA354610187 | TF | c.1717C>G (p.Leu573Val) c.448C>G n.2711C>G c.1585C>G (p.Leu529Val) c.1336C>G (p.Leu446Val) | dbSNP |
| 3 | g.133775462C>T | CA435815811 | TF | c.1717C>T (p.Leu573=) c.448C>T n.2711C>T c.1585C>T (p.Leu529=) c.1336C>T (p.Leu446=) | COSMIC |
| 3 | g.133775463T>A | CA354610192 | TF | c.1718T>A (p.Leu573Gln) c.449T>A n.2712T>A c.1586T>A (p.Leu529Gln) c.1337T>A (p.Leu446Gln) | |
| 3 | g.133775463T>C | CA354610194 | TF | c.1718T>C (p.Leu573Pro) c.449T>C n.2712T>C c.1586T>C (p.Leu529Pro) c.1337T>C (p.Leu446Pro) | |
| 3 | g.133775463T>G | CA2625401 | TF | c.1718T>G (p.Leu573Arg) c.449T>G n.2712T>G c.1586T>G (p.Leu529Arg) c.1337T>G (p.Leu446Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775463T= | CA1403130766 | TF | c.1718T= (p.Leu573=) c.449T= n.2712T= c.1586T= (p.Leu529=) c.1337T= (p.Leu446=) | |
| 3 | g.133775464G>A | CA435815812 | TF | c.1719G>A (p.Leu573=) c.450G>A n.2713G>A c.1587G>A (p.Leu529=) c.1338G>A (p.Leu446=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.133775464G>C | CA435815813 | TF | c.1719G>C (p.Leu573=) c.450G>C n.2713G>C c.1587G>C (p.Leu529=) c.1338G>C (p.Leu446=) | COSMIC |
| 3 | g.133775464G= | CA1403130767 | TF | c.1719G= (p.Leu573=) c.450G= n.2713G= c.1587G= (p.Leu529=) c.1338G= (p.Leu446=) | |
| 3 | g.133775464G>T | CA435815814 | TF | c.1719G>T (p.Leu573=) c.450G>T n.2713G>T c.1587G>T (p.Leu529=) c.1338G>T (p.Leu446=) | |
| 3 | g.133775465A>C | CA354610197 | TF | c.1720A>C (p.Asn574His) c.451A>C n.2714A>C c.1588A>C (p.Asn530His) c.1339A>C (p.Asn447His) | |
| 3 | g.133775465A>G | CA354610198 | TF | c.1720A>G (p.Asn574Asp) c.451A>G n.2714A>G c.1588A>G (p.Asn530Asp) c.1339A>G (p.Asn447Asp) | |
| 3 | g.133775465A>T | CA354610200 | TF | c.1720A>T (p.Asn574Tyr) c.451A>T n.2714A>T c.1588A>T (p.Asn530Tyr) c.1339A>T (p.Asn447Tyr) | |
| 3 | g.133775466A>C | CA354610202 | TF | c.1721A>C (p.Asn574Thr) c.452A>C n.2715A>C c.1589A>C (p.Asn530Thr) c.1340A>C (p.Asn447Thr) | |
| 3 | g.133775466A>G | CA354610203 | TF | c.1721A>G (p.Asn574Ser) c.452A>G n.2715A>G c.1589A>G (p.Asn530Ser) c.1340A>G (p.Asn447Ser) | |
| 3 | g.133775466A>T | CA354610204 | TF | c.1721A>T (p.Asn574Ile) c.452A>T n.2715A>T c.1589A>T (p.Asn530Ile) c.1340A>T (p.Asn447Ile) | |
| 3 | g.133775467T>A | CA354610207 | TF | c.1722T>A (p.Asn574Lys) c.453T>A n.2716T>A c.1590T>A (p.Asn530Lys) c.1341T>A (p.Asn447Lys) | |
| 3 | g.133775467T>C | CA435815815 | TF | c.1722T>C (p.Asn574=) c.453T>C n.2716T>C c.1590T>C (p.Asn530=) c.1341T>C (p.Asn447=) | gnomAD v4 |
| 3 | g.133775467T>G | CA354610208 | TF | c.1722T>G (p.Asn574Lys) c.453T>G n.2716T>G c.1590T>G (p.Asn530Lys) c.1341T>G (p.Asn447Lys) | |
| 3 | g.133775468G>A | CA354610210 | TF | c.1723G>A (p.Glu575Lys) c.454G>A n.2717G>A c.1591G>A (p.Glu531Lys) c.1342G>A (p.Glu448Lys) | gnomAD v4 |
| 3 | g.133775468G>C | CA354610213 | TF | c.1723G>C (p.Glu575Gln) c.454G>C n.2717G>C c.1591G>C (p.Glu531Gln) c.1342G>C (p.Glu448Gln) | |
| 3 | g.133775468G>T | CA354610215 | TF | c.1723G>T (p.Glu575Ter) c.454G>T n.2717G>T c.1591G>T (p.Glu531Ter) c.1342G>T (p.Glu448Ter) | gnomAD v4 |
| 3 | g.133775469A= | CA1403130769 | TF | c.1724A= (p.Glu575=) c.455A= n.2718A= c.1592A= (p.Glu531=) c.1343A= (p.Glu448=) | |
| 3 | g.133775469A>C | CA354610217 | TF | c.1724A>C (p.Glu575Ala) c.455A>C n.2718A>C c.1592A>C (p.Glu531Ala) c.1343A>C (p.Glu448Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775469A>G | CA354610219 | TF | c.1724A>G (p.Glu575Gly) c.455A>G n.2718A>G c.1592A>G (p.Glu531Gly) c.1343A>G (p.Glu448Gly) | |
| 3 | g.133775469A>T | CA354610221 | TF | c.1724A>T (p.Glu575Val) c.455A>T n.2718A>T c.1592A>T (p.Glu531Val) c.1343A>T (p.Glu448Val) | |
| 3 | g.133775470A>C | CA354610223 | TF | c.1725A>C (p.Glu575Asp) c.456A>C n.2719A>C c.1593A>C (p.Glu531Asp) c.1344A>C (p.Glu448Asp) | |
| 3 | g.133775470A>G | CA435815816 | TF | c.1725A>G (p.Glu575=) c.456A>G n.2719A>G c.1593A>G (p.Glu531=) c.1344A>G (p.Glu448=) | |
| 3 | g.133775470A>T | CA354610225 | TF | c.1725A>T (p.Glu575Asp) c.456A>T n.2719A>T c.1593A>T (p.Glu531Asp) c.1344A>T (p.Glu448Asp) | |
| 3 | g.133775471A>C | CA354610228 | TF | c.1726A>C (p.Lys576Gln) c.457A>C n.2720A>C c.1594A>C (p.Lys532Gln) c.1345A>C (p.Lys449Gln) | |
| 3 | g.133775471A>G | CA354610229 | TF | c.1726A>G (p.Lys576Glu) c.457A>G n.2720A>G c.1594A>G (p.Lys532Glu) c.1345A>G (p.Lys449Glu) | |
| 3 | g.133775471A>T | CA354610232 | TF | c.1726A>T (p.Lys576Ter) c.457A>T n.2720A>T c.1594A>T (p.Lys532Ter) c.1345A>T (p.Lys449Ter) | |
| 3 | g.133775472A>C | CA354610234 | TF | c.1727A>C (p.Lys576Thr) c.458A>C n.2721A>C c.1595A>C (p.Lys532Thr) c.1346A>C (p.Lys449Thr) | |
| 3 | g.133775472A>G | CA354610235 | TF | c.1727A>G (p.Lys576Arg) c.458A>G n.2721A>G c.1595A>G (p.Lys532Arg) c.1346A>G (p.Lys449Arg) | |
| 3 | g.133775472A>T | CA354610237 | TF | c.1727A>T (p.Lys576Ile) c.458A>T n.2721A>T c.1595A>T (p.Lys532Ile) c.1346A>T (p.Lys449Ile) | |
| 3 | g.133775473A= | CA1403130772 | TF | c.1728A= (p.Lys576=) c.459A= n.2722A= c.1596A= (p.Lys532=) c.1347A= (p.Lys449=) | |
| 3 | g.133775473A>C | CA354610239 | TF | c.1728A>C (p.Lys576Asn) c.459A>C n.2722A>C c.1596A>C (p.Lys532Asn) c.1347A>C (p.Lys449Asn) | |
| 3 | g.133775473A>G | CA2625402 | TF | c.1728A>G (p.Lys576=) c.459A>G n.2722A>G c.1596A>G (p.Lys532=) c.1347A>G (p.Lys449=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775473A>T | CA83692773 | TF | c.1728A>T (p.Lys576Asn) c.459A>T n.2722A>T c.1596A>T (p.Lys532Asn) c.1347A>T (p.Lys449Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133775474G>A | CA354610243 | TF | c.1729G>A (p.Asp577Asn) c.460G>A n.2723G>A c.1597G>A (p.Asp533Asn) c.1348G>A (p.Asp450Asn) | COSMIC |
| 3 | g.133775474G>C | CA354610245 | TF | c.1729G>C (p.Asp577His) c.460G>C n.2723G>C c.1597G>C (p.Asp533His) c.1348G>C (p.Asp450His) | dbSNP |
| 3 | g.133775474G>T | CA354610247 | TF | c.1729G>T (p.Asp577Tyr) c.460G>T n.2723G>T c.1597G>T (p.Asp533Tyr) c.1348G>T (p.Asp450Tyr) | |
| 3 | g.133775475A>C | CA354610251 | TF | c.1730A>C (p.Asp577Ala) c.461A>C n.2724A>C c.1598A>C (p.Asp533Ala) c.1349A>C (p.Asp450Ala) | gnomAD v4 |
| 3 | g.133775475A>G | CA354610249 | TF | c.1730A>G (p.Asp577Gly) c.461A>G n.2724A>G c.1598A>G (p.Asp533Gly) c.1349A>G (p.Asp450Gly) | |
| 3 | g.133775475A>T | CA354610248 | TF | c.1730A>T (p.Asp577Val) c.461A>T n.2724A>T c.1598A>T (p.Asp533Val) c.1349A>T (p.Asp450Val) | |
| 3 | g.133775476C>A | CA354610252 | TF | c.1731C>A (p.Asp577Glu) c.462C>A n.2725C>A c.1599C>A (p.Asp533Glu) c.1350C>A (p.Asp450Glu) | |
| 3 | g.133775476C>G | CA354610253 | TF | c.1731C>G (p.Asp577Glu) c.462C>G n.2725C>G c.1599C>G (p.Asp533Glu) c.1350C>G (p.Asp450Glu) | |
| 3 | g.133775476C>T | CA435815817 | TF | c.1731C>T (p.Asp577=) c.462C>T n.2725C>T c.1599C>T (p.Asp533=) c.1350C>T (p.Asp450=) | gnomAD v4 |
| 3 | g.133775477T>A | CA354610255 | TF | c.1732T>A (p.Tyr578Asn) c.463T>A n.2726T>A c.1600T>A (p.Tyr534Asn) c.1351T>A (p.Tyr451Asn) | gnomAD v4 |
| 3 | g.133775477T>C | CA354610259 | TF | c.1732T>C (p.Tyr578His) c.463T>C n.2726T>C c.1600T>C (p.Tyr534His) c.1351T>C (p.Tyr451His) | |
| 3 | g.133775477T>G | CA354610257 | TF | c.1732T>G (p.Tyr578Asp) c.463T>G n.2726T>G c.1600T>G (p.Tyr534Asp) c.1351T>G (p.Tyr451Asp) | |
| 3 | g.133775478_133775479del | CA645516349 | TF | c.1733_1734del (p.Tyr578Ter) c.464_465del n.2727_2728del c.1601_1602del (p.Tyr534Ter) c.1352_1353del (p.Tyr451Ter) | COSMIC COSMIC |
| 3 | g.133775478A>C | CA354610262 | TF | c.1733A>C (p.Tyr578Ser) c.464A>C n.2727A>C c.1601A>C (p.Tyr534Ser) c.1352A>C (p.Tyr451Ser) | |
| 3 | g.133775478A>G | CA354610264 | TF | c.1733A>G (p.Tyr578Cys) c.464A>G n.2727A>G c.1601A>G (p.Tyr534Cys) c.1352A>G (p.Tyr451Cys) | gnomAD v4 |
| 3 | g.133775478A>T | CA354610266 | TF | c.1733A>T (p.Tyr578Phe) c.464A>T n.2727A>T c.1601A>T (p.Tyr534Phe) c.1352A>T (p.Tyr451Phe) | |
| 3 | g.133775479T>A | CA354610268 | TF | c.1734T>A (p.Tyr578Ter) c.465T>A n.2728T>A c.1602T>A (p.Tyr534Ter) c.1353T>A (p.Tyr451Ter) | |
| 3 | g.133775479T>C | CA2625403 | TF | c.1734T>C (p.Tyr578=) c.465T>C n.2728T>C c.1602T>C (p.Tyr534=) c.1353T>C (p.Tyr451=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775479T>G | CA354610271 | TF | c.1734T>G (p.Tyr578Ter) c.465T>G n.2728T>G c.1602T>G (p.Tyr534Ter) c.1353T>G (p.Tyr451Ter) | gnomAD v4 |
| 3 | g.133775479T= | CA1403130776 | TF | c.1734T= (p.Tyr578=) c.465T= n.2728T= c.1602T= (p.Tyr534=) c.1353T= (p.Tyr451=) | |
| 3 | g.133775480G>A | CA354610273 | TF | c.1735G>A (p.Glu579Lys) c.466G>A n.2729G>A c.1603G>A (p.Glu535Lys) c.1354G>A (p.Glu452Lys) | |
| 3 | g.133775480G>C | CA354610276 | TF | c.1735G>C (p.Glu579Gln) c.466G>C n.2729G>C c.1603G>C (p.Glu535Gln) c.1354G>C (p.Glu452Gln) | |
| 3 | g.133775480G>T | CA354610278 | TF | c.1735G>T (p.Glu579Ter) c.466G>T n.2729G>T c.1603G>T (p.Glu535Ter) c.1354G>T (p.Glu452Ter) | |
| 3 | g.133775481A= | CA1403130779 | TF | c.1736A= (p.Glu579=) c.467A= n.2730A= c.1604A= (p.Glu535=) c.1355A= (p.Glu452=) | |
| 3 | g.133775481A>C | CA354610280 | TF | c.1736A>C (p.Glu579Ala) c.467A>C n.2730A>C c.1604A>C (p.Glu535Ala) c.1355A>C (p.Glu452Ala) | |
| 3 | g.133775481A>G | CA83692803 | TF | c.1736A>G (p.Glu579Gly) c.467A>G n.2730A>G c.1604A>G (p.Glu535Gly) c.1355A>G (p.Glu452Gly) | dbSNP |
| 3 | g.133775481A>T | CA354610283 | TF | c.1736A>T (p.Glu579Val) c.467A>T n.2730A>T c.1604A>T (p.Glu535Val) c.1355A>T (p.Glu452Val) | |
| 3 | g.133775482G>A | CA435815818 | TF | c.1737G>A (p.Glu579=) c.468G>A n.2731G>A c.1605G>A (p.Glu535=) c.1356G>A (p.Glu452=) | dbSNP |
| 3 | g.133775482G>C | CA354610287 | TF | c.1737G>C (p.Glu579Asp) c.468G>C n.2731G>C c.1605G>C (p.Glu535Asp) c.1356G>C (p.Glu452Asp) | gnomAD v4 |
| 3 | g.133775482G= | CA1403130782 | TF | c.1737G= (p.Glu579=) c.468G= n.2731G= c.1605G= (p.Glu535=) c.1356G= (p.Glu452=) | |
| 3 | g.133775482G>T | CA354610286 | TF | c.1737G>T (p.Glu579Asp) c.468G>T n.2731G>T c.1605G>T (p.Glu535Asp) c.1356G>T (p.Glu452Asp) | |
| 3 | g.133775483T>A | CA354610288 | TF | c.1738T>A (p.Leu580Met) c.469T>A n.2732T>A c.1606T>A (p.Leu536Met) c.1357T>A (p.Leu453Met) | |
| 3 | g.133775483T>C | CA435815819 | TF | c.1738T>C (p.Leu580=) c.469T>C n.2732T>C c.1606T>C (p.Leu536=) c.1357T>C (p.Leu453=) | dbSNP |
| 3 | g.133775483T>G | CA354610290 | TF | c.1738T>G (p.Leu580Val) c.469T>G n.2732T>G c.1606T>G (p.Leu536Val) c.1357T>G (p.Leu453Val) | |
| 3 | g.133775483T= | CA1403122650 | TF | c.1738T= (p.Leu580=) c.469T= n.2732T= c.1606T= (p.Leu536=) c.1357T= (p.Leu453=) |