Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28902939_28902964delinsCCCTCCCCTGAGGCCACTGCCCACAT | CA2215888736 | ATP2A1 | c.2744+28_2744+53delinsCCCTCCCCTGAGGCCACTGCCCACAT (n.2744+28_2744+53delinsCCCTCCCCTGAGGCCACTGCCCACAT) c.2369+28_2369+53delinsCCCTCCCCTGAGGCCACTGCCCACAT (n.2369+28_2369+53delinsCCCTCCCCTGAGGCCACTGCCCACAT) | |
16 | g.28902945_28902969del | CA7987375 | ATP2A1 | c.2744+34_2744+58del (n.2744+34_2744+58del) c.2369+34_2369+58del (n.2369+34_2369+58del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902955C>A | CA2575960593 | ATP2A1 | c.2744+44C>A (n.2744+44C>A) c.2369+44C>A (n.2369+44C>A) | |
16 | g.28902956T>A | CA7987383 | ATP2A1 | c.2744+45T>A (n.2744+45T>A) c.2369+45T>A (n.2369+45T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902956T>C | CA7987384 | ATP2A1 | c.2744+45T>C (n.2744+45T>C) c.2369+45T>C (n.2369+45T>C) | dbSNP ExAC gnomAD v2 |
16 | g.28902956T= | CA2215888787 | ATP2A1 | c.2744+45T= (n.2744+45T=) c.2369+45T= (n.2369+45T=) | |
16 | g.28902957G= | CA2215888791 | ATP2A1 | c.2744+46G= (n.2744+46G=) c.2369+46G= (n.2369+46G=) | |
16 | g.28902957G>T | CA2215888794 | ATP2A1 | c.2744+46G>T (n.2744+46G>T) c.2369+46G>T (n.2369+46G>T) | dbSNP gnomAD v4 |
16 | g.28902958C= | CA2215888795 | ATP2A1 | c.2744+47C= (n.2744+47C=) c.2369+47C= (n.2369+47C=) | |
16 | g.28902958C>T | CA7987385 | ATP2A1 | c.2744+47C>T (n.2744+47C>T) c.2369+47C>T (n.2369+47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902959C>T | CA2632541333 | ATP2A1 | c.2744+48C>T (n.2744+48C>T) c.2369+48C>T (n.2369+48C>T) | gnomAD v4 |
16 | g.28902960C= | CA2215888799 | ATP2A1 | c.2744+49C= (n.2744+49C=) c.2369+49C= (n.2369+49C=) | |
16 | g.28902960C>T | CA7987386 | ATP2A1 | c.2744+49C>T (n.2744+49C>T) c.2369+49C>T (n.2369+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28902962C= | CA2215888802 | ATP2A1 | c.2744+51C= (n.2744+51C=) c.2369+51C= (n.2369+51C=) | |
16 | g.28902962C>T | CA7987387 | ATP2A1 | c.2744+51C>T (n.2744+51C>T) c.2369+51C>T (n.2369+51C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902963A= | CA2215888805 | ATP2A1 | c.2744+52A= (n.2744+52A=) c.2369+52A= (n.2369+52A=) | |
16 | g.28902963A>G | CA7987388 | ATP2A1 | c.2744+52A>G (n.2744+52A>G) c.2369+52A>G (n.2369+52A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28902964del | CA2632541334 | ATP2A1 | c.2744+53del (n.2744+53del) c.2369+53del (n.2369+53del) | gnomAD v4 |
16 | g.28902964T>C | CA2632541335 | ATP2A1 | c.2744+53T>C (n.2744+53T>C) c.2369+53T>C (n.2369+53T>C) | gnomAD v4 |
16 | g.28902965C= | CA2215888808 | ATP2A1 | c.2744+54C= (n.2744+54C=) c.2369+54C= (n.2369+54C=) | |
16 | g.28902965C>T | CA279244640 | ATP2A1 | c.2744+54C>T (n.2744+54C>T) c.2369+54C>T (n.2369+54C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902966C= | CA2215888812 | ATP2A1 | c.2744+55C= (n.2744+55C=) c.2369+55C= (n.2369+55C=) | |
16 | g.28902966C>T | CA279244651 | ATP2A1 | c.2744+55C>T (n.2744+55C>T) c.2369+55C>T (n.2369+55C>T) | dbSNP gnomAD v4 |
16 | g.28902968C>T | CA2806424100 | ATP2A1 | c.2744+57C>T (n.2744+57C>T) c.2369+57C>T (n.2369+57C>T) | |
16 | g.28902969del | CA2575960594 | ATP2A1 | c.2744+58del (n.2744+58del) c.2369+58del (n.2369+58del) | |
16 | g.28902969C= | CA2215888814 | ATP2A1 | c.2744+58C= (n.2744+58C=) c.2369+58C= (n.2369+58C=) | |
16 | g.28902969C>T | CA976150871 | ATP2A1 | c.2744+58C>T (n.2744+58C>T) c.2369+58C>T (n.2369+58C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902978_28903004del | CA2575960595 | ATP2A1 | c.2745-52_2745-26del (n.2745-52_2745-26del) c.2370-52_2370-26del (n.2370-52_2370-26del) | |
16 | g.28902972T>C | CA2632541337 | ATP2A1 | c.2745-58T>C (n.2745-58T>C) c.2370-58T>C (n.2370-58T>C) | gnomAD v4 |
16 | g.28902973G>A | CA622162575 | ATP2A1 | c.2745-57G>A (n.2745-57G>A) c.2370-57G>A (n.2370-57G>A) | gnomAD v2 gnomAD v4 |
16 | g.28902976C= | CA2215888816 | ATP2A1 | c.2745-54C= (n.2745-54C=) c.2370-54C= (n.2370-54C=) | |
16 | g.28902976C>T | CA622162576 | ATP2A1 | c.2745-54C>T (n.2745-54C>T) c.2370-54C>T (n.2370-54C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902977C= | CA2215888819 | ATP2A1 | c.2745-53C= (n.2745-53C=) c.2370-53C= (n.2370-53C=) | |
16 | g.28902977C>T | CA279244666 | ATP2A1 | c.2745-53C>T (n.2745-53C>T) c.2370-53C>T (n.2370-53C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902978G>A | CA279244675 | ATP2A1 | c.2745-52G>A (n.2745-52G>A) c.2370-52G>A (n.2370-52G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902978G= | CA2215888820 | ATP2A1 | c.2745-52G= (n.2745-52G=) c.2370-52G= (n.2370-52G=) | |
16 | g.28902981C>T | CA2732138096 | ATP2A1 | c.2745-49C>T (n.2745-49C>T) c.2370-49C>T (n.2370-49C>T) | dbSNP |
16 | g.28902982A= | CA2215888827 | ATP2A1 | c.2745-48A= (n.2745-48A=) c.2370-48A= (n.2370-48A=) | |
16 | g.28902982A>C | CA976150884 | ATP2A1 | c.2745-48A>C (n.2745-48A>C) c.2370-48A>C (n.2370-48A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902982_28902985delinsACCT | CA2215888822 | ATP2A1 | c.2745-48_2745-45delinsACCT (n.2745-48_2745-45delinsACCT) c.2370-48_2370-45delinsACCT (n.2370-48_2370-45delinsACCT) | |
16 | g.28902986_28902988del | CA622162577 | ATP2A1 | c.2745-44_2745-42del (n.2745-44_2745-42del) c.2370-44_2370-42del (n.2370-44_2370-42del) | dbSNP gnomAD v2 |
16 | g.28902986_28903005del | CA2632541338 | ATP2A1 | c.2745-44_2745-25del (n.2745-44_2745-25del) c.2370-44_2370-25del (n.2370-44_2370-25del) | gnomAD v4 |
16 | g.28902984C= | CA2215888848 | ATP2A1 | c.2745-46C= (n.2745-46C=) c.2370-46C= (n.2370-46C=) | |
16 | g.28902984C>G | CA2215888851 | ATP2A1 | c.2745-46C>G (n.2745-46C>G) c.2370-46C>G (n.2370-46C>G) | dbSNP |
16 | g.28902984C>T | CA7987389 | ATP2A1 | c.2745-46C>T (n.2745-46C>T) c.2370-46C>T (n.2370-46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902989_28902992del | CA2575960596 | ATP2A1 | c.2745-41_2745-38del (n.2745-41_2745-38del) c.2370-41_2370-38del (n.2370-41_2370-38del) | |
16 | g.28902986C= | CA2215888873 | ATP2A1 | c.2745-44C= (n.2745-44C=) c.2370-44C= (n.2370-44C=) | |
16 | g.28902986C>G | CA2215888877 | ATP2A1 | c.2745-44C>G (n.2745-44C>G) c.2370-44C>G (n.2370-44C>G) | dbSNP |
16 | g.28902986C>T | CA622162578 | ATP2A1 | c.2745-44C>T (n.2745-44C>T) c.2370-44C>T (n.2370-44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902988T>C | CA2632541339 | ATP2A1 | c.2745-42T>C (n.2745-42T>C) c.2370-42T>C (n.2370-42T>C) | gnomAD v4 |
16 | g.28902990C= | CA2215888880 | ATP2A1 | c.2745-40C= (n.2745-40C=) c.2370-40C= (n.2370-40C=) | |
16 | g.28902990C>T | CA976150893 | ATP2A1 | c.2745-40C>T (n.2745-40C>T) c.2370-40C>T (n.2370-40C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902991C= | CA2215888884 | ATP2A1 | c.2745-39C= (n.2745-39C=) c.2370-39C= (n.2370-39C=) | |
16 | g.28902991C>T | CA622162579 | ATP2A1 | c.2745-39C>T (n.2745-39C>T) c.2370-39C>T (n.2370-39C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902992T= | CA2215888887 | ATP2A1 | c.2745-38T= (n.2745-38T=) c.2370-38T= (n.2370-38T=) | |
16 | g.28902993C= | CA2215888891 | ATP2A1 | c.2745-37C= (n.2745-37C=) c.2370-37C= (n.2370-37C=) | |
16 | g.28902993C>G | CA2215888894 | ATP2A1 | c.2745-37C>G (n.2745-37C>G) c.2370-37C>G (n.2370-37C>G) | dbSNP gnomAD v4 |
16 | g.28902997_28902998insGTGTGCCTTCTCCCTCCCCCTCA | CA7987390 | ATP2A1 | c.2745-33_2745-32insGTGTGCCTTCTCCCTCCCCCTCA (n.2745-33_2745-32insGTGTGCCTTCTCCCTCCCCCTCA) c.2370-33_2370-32insGTGTGCCTTCTCCCTCCCCCTCA (n.2370-33_2370-32insGTGTGCCTTCTCCCTCCCCCTCA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902996C= | CA2215888896 | ATP2A1 | c.2745-34C= (n.2745-34C=) c.2370-34C= (n.2370-34C=) | |
16 | g.28902996C>T | CA622162580 | ATP2A1 | c.2745-34C>T (n.2745-34C>T) c.2370-34C>T (n.2370-34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902997A= | CA2215888916 | ATP2A1 | c.2745-33A= (n.2745-33A=) c.2370-33A= (n.2370-33A=) | |
16 | g.28902997A>C | CA976150898 | ATP2A1 | c.2745-33A>C (n.2745-33A>C) c.2370-33A>C (n.2370-33A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902997A>G | CA2632541340 | ATP2A1 | c.2745-33A>G (n.2745-33A>G) c.2370-33A>G (n.2370-33A>G) | gnomAD v4 |
16 | g.28902998C= | CA2215888917 | ATP2A1 | c.2745-32C= (n.2745-32C=) c.2370-32C= (n.2370-32C=) | |
16 | g.28902998C>G | CA976150915 | ATP2A1 | c.2745-32C>G (n.2745-32C>G) c.2370-32C>G (n.2370-32C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902999T>C | CA622162581 | ATP2A1 | c.2745-31T>C (n.2745-31T>C) c.2370-31T>C (n.2370-31T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28902999T>G | CA976150918 | ATP2A1 | c.2745-31T>G (n.2745-31T>G) c.2370-31T>G (n.2370-31T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902999T= | CA2215888918 | ATP2A1 | c.2745-31T= (n.2745-31T=) c.2370-31T= (n.2370-31T=) | |
16 | g.28903001_28903002del | CA2632541341 | ATP2A1 | c.2745-29_2745-28del (n.2745-29_2745-28del) c.2370-29_2370-28del (n.2370-29_2370-28del) | gnomAD v4 |
16 | g.28903000G>A | CA2632541342 | ATP2A1 | c.2745-30G>A (n.2745-30G>A) c.2370-30G>A (n.2370-30G>A) | gnomAD v4 |
16 | g.28903003C>A | CA2632541343 | ATP2A1 | c.2745-27C>A (n.2745-27C>A) c.2370-27C>A (n.2370-27C>A) | gnomAD v4 |
16 | g.28903003C>G | CA2632541344 | ATP2A1 | c.2745-27C>G (n.2745-27C>G) c.2370-27C>G (n.2370-27C>G) | gnomAD v4 |
16 | g.28903004C= | CA2215888919 | ATP2A1 | c.2745-26C= (n.2745-26C=) c.2370-26C= (n.2370-26C=) | |
16 | g.28903004C>G | CA2632541345 | ATP2A1 | c.2745-26C>G (n.2745-26C>G) c.2370-26C>G (n.2370-26C>G) | gnomAD v4 |
16 | g.28903004C>T | CA976150921 | ATP2A1 | c.2745-26C>T (n.2745-26C>T) c.2370-26C>T (n.2370-26C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28903005T>G | CA622162582 | ATP2A1 | c.2745-25T>G (n.2745-25T>G) c.2370-25T>G (n.2370-25T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903005T= | CA2215888920 | ATP2A1 | c.2745-25T= (n.2745-25T=) c.2370-25T= (n.2370-25T=) | |
16 | g.28903007C= | CA2215888921 | ATP2A1 | c.2745-23C= (n.2745-23C=) c.2370-23C= (n.2370-23C=) | |
16 | g.28903007C>G | CA2632541346 | ATP2A1 | c.2745-23C>G (n.2745-23C>G) c.2370-23C>G (n.2370-23C>G) | gnomAD v4 |
16 | g.28903007C>T | CA622162583 | ATP2A1 | c.2745-23C>T (n.2745-23C>T) c.2370-23C>T (n.2370-23C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28903009C= | CA2215888922 | ATP2A1 | c.2745-21C= (n.2745-21C=) c.2370-21C= (n.2370-21C=) | |
16 | g.28903009C>G | CA976150925 | ATP2A1 | c.2745-21C>G (n.2745-21C>G) c.2370-21C>G (n.2370-21C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28903009C>T | CA7987391 | ATP2A1 | c.2745-21C>T (n.2745-21C>T) c.2370-21C>T (n.2370-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903010C= | CA2215888923 | ATP2A1 | c.2745-20C= (n.2745-20C=) c.2370-20C= (n.2370-20C=) | |
16 | g.28903010C>T | CA2632541347 | ATP2A1 | c.2745-20C>T (n.2745-20C>T) c.2370-20C>T (n.2370-20C>T) | gnomAD v4 |
16 | g.28903011C>G | CA2632541348 | ATP2A1 | c.2745-19C>G (n.2745-19C>G) c.2370-19C>G (n.2370-19C>G) | gnomAD v4 |
16 | g.28903011C>T | CA2806424101 | ATP2A1 | c.2745-19C>T (n.2745-19C>T) c.2370-19C>T (n.2370-19C>T) | |
16 | g.28903012_28903013dup | CA976150931 | ATP2A1 | c.2745-18_2745-17dup (n.2745-18_2745-17dup) c.2370-18_2370-17dup (n.2370-18_2370-17dup) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28903012_28903013delinsTC | CA2215888924 | ATP2A1 | c.2745-18_2745-17delinsTC (n.2745-18_2745-17delinsTC) c.2370-18_2370-17delinsTC (n.2370-18_2370-17delinsTC) | |
16 | g.28903013C= | CA2215888927 | ATP2A1 | c.2745-17C= (n.2745-17C=) c.2370-17C= (n.2370-17C=) | |
16 | g.28903013C>T | CA622162585 | ATP2A1 | c.2745-17C>T (n.2745-17C>T) c.2370-17C>T (n.2370-17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28903016del | CA622162584 | ATP2A1 | c.2745-14del (n.2745-14del) c.2370-14del (n.2370-14del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28903014C>T | CA2632541349 | ATP2A1 | c.2745-16C>T (n.2745-16C>T) c.2370-16C>T (n.2370-16C>T) | gnomAD v4 |
16 | g.28903015C>A | CA7987392 | ATP2A1 | c.2745-15C>A (n.2745-15C>A) c.2370-15C>A (n.2370-15C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903015C= | CA2215888930 | ATP2A1 | c.2745-15C= (n.2745-15C=) c.2370-15C= (n.2370-15C=) | |
16 | g.28903017T>A | CA2806424102 | ATP2A1 | c.2745-13T>A (n.2745-13T>A) c.2370-13T>A (n.2370-13T>A) | |
16 | g.28903017T>C | CA622162586 | ATP2A1 | c.2745-13T>C (n.2745-13T>C) c.2370-13T>C (n.2370-13T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903017T= | CA2215888938 | ATP2A1 | c.2745-13T= (n.2745-13T=) c.2370-13T= (n.2370-13T=) | |
16 | g.28903018T>C | CA2806424103 | ATP2A1 | c.2745-12T>C (n.2745-12T>C) c.2370-12T>C (n.2370-12T>C) | |
16 | g.28903019C= | CA2215888941 | ATP2A1 | c.2745-11C= (n.2745-11C=) c.2370-11C= (n.2370-11C=) | |
16 | g.28903019C>T | CA7987393 | ATP2A1 | c.2745-11C>T (n.2745-11C>T) c.2370-11C>T (n.2370-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28903020C>A | CA976150941 | ATP2A1 | c.2745-10C>A (n.2745-10C>A) c.2370-10C>A (n.2370-10C>A) | dbSNP |
16 | g.28903020C= | CA2215888942 | ATP2A1 | c.2745-10C= (n.2745-10C=) c.2370-10C= (n.2370-10C=) | |
16 | g.28903020C>G | CA2632541351 | ATP2A1 | c.2745-10C>G (n.2745-10C>G) c.2370-10C>G (n.2370-10C>G) | gnomAD v4 |
16 | g.28903020C>T | CA622162587 | ATP2A1 | c.2745-10C>T (n.2745-10C>T) c.2370-10C>T (n.2370-10C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28903021C= | CA2215888944 | ATP2A1 | c.2745-9C= (n.2745-9C=) c.2370-9C= (n.2370-9C=) | |
16 | g.28903021C>T | CA622162588 | ATP2A1 | c.2745-9C>T (n.2745-9C>T) c.2370-9C>T (n.2370-9C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28903023T>C | CA7987394 | ATP2A1 | c.2745-7T>C (n.2745-7T>C) c.2370-7T>C (n.2370-7T>C) | dbSNP ExAC gnomAD v2 |
16 | g.28903023T= | CA2215888947 | ATP2A1 | c.2745-7T= (n.2745-7T=) c.2370-7T= (n.2370-7T=) | |
16 | g.28903024C>T | CA2632541352 | ATP2A1 | c.2745-6C>T (n.2745-6C>T) c.2370-6C>T (n.2370-6C>T) | gnomAD v4 |
16 | g.28903025T>C | CA2632541353 | ATP2A1 | c.2745-5T>C (n.2745-5T>C) c.2370-5T>C (n.2370-5T>C) | gnomAD v4 |
16 | g.28903027C= | CA2215888950 | ATP2A1 | c.2745-3C= (n.2745-3C=) c.2370-3C= (n.2370-3C=) | |
16 | g.28903027C>T | CA7987395 | ATP2A1 | c.2745-3C>T (n.2745-3C>T) c.2370-3C>T (n.2370-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28903028A>C | CA395415395 | ATP2A1 | c.2745-2A>C (n.2745-2A>C) c.2370-2A>C (n.2370-2A>C) | |
16 | g.28903028A>G | CA395415396 | ATP2A1 | c.2745-2A>G (n.2745-2A>G) c.2370-2A>G (n.2370-2A>G) | |
16 | g.28903028A>T | CA395415397 | ATP2A1 | c.2745-2A>T (n.2745-2A>T) c.2370-2A>T (n.2370-2A>T) | |
16 | g.28903029G>A | CA395415398 | ATP2A1 | c.2745-1G>A (n.2745-1G>A) c.2370-1G>A (n.2370-1G>A) | |
16 | g.28903029G>C | CA395415399 | ATP2A1 | c.2745-1G>C (n.2745-1G>C) c.2370-1G>C (n.2370-1G>C) | |
16 | g.28903029G>T | CA395415400 | ATP2A1 | c.2745-1G>T (n.2745-1G>T) c.2370-1G>T (n.2370-1G>T) | |
16 | g.28903030C>A | CA395415401 | ATP2A1 | c.2745C>A (p.Ser915Arg) c.2370C>A (p.Ser790Arg) | |
16 | g.28903030C>G | CA395415402 | ATP2A1 | c.2745C>G (p.Ser915Arg) c.2370C>G (p.Ser790Arg) | |
16 | g.28903030C>T | CA494874462 | ATP2A1 | c.2745C>T (p.Ser915=) c.2370C>T (p.Ser790=) | |
16 | g.28903031C>A | CA395415403 | ATP2A1 | c.2746C>A (p.Leu916Met) c.2371C>A (p.Leu791Met) | |
16 | g.28903031C>G | CA395415404 | ATP2A1 | c.2746C>G (p.Leu916Val) c.2371C>G (p.Leu791Val) | |
16 | g.28903031C>T | CA494874463 | ATP2A1 | c.2746C>T (p.Leu916=) c.2371C>T (p.Leu791=) | COSMIC |
16 | g.28903032T>A | CA395415405 | ATP2A1 | c.2747T>A (p.Leu916Gln) c.2372T>A (p.Leu791Gln) | |
16 | g.28903032T>C | CA395415406 | ATP2A1 | c.2747T>C (p.Leu916Pro) c.2372T>C (p.Leu791Pro) | dbSNP |
16 | g.28903032T>G | CA395415407 | ATP2A1 | c.2747T>G (p.Leu916Arg) c.2372T>G (p.Leu791Arg) | |
16 | g.28903032T= | CA2215888955 | ATP2A1 | c.2747T= (p.Leu916=) c.2372T= (p.Leu791=) | |
16 | g.28903033G>A | CA7987396 | ATP2A1 | c.2748G>A (p.Leu916=) c.2373G>A (p.Leu791=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28903033G>C | CA494874464 | ATP2A1 | c.2748G>C (p.Leu916=) c.2373G>C (p.Leu791=) | |
16 | g.28903033G= | CA2215888960 | ATP2A1 | c.2748G= (p.Leu916=) c.2373G= (p.Leu791=) | |
16 | g.28903033G>T | CA494874465 | ATP2A1 | c.2748G>T (p.Leu916=) c.2373G>T (p.Leu791=) | gnomAD v4 |
16 | g.28903034T>A | CA395415408 | ATP2A1 | c.2749T>A (p.Ser917Thr) c.2374T>A (p.Ser792Thr) | |
16 | g.28903034T>C | CA395415409 | ATP2A1 | c.2749T>C (p.Ser917Pro) c.2374T>C (p.Ser792Pro) | COSMIC |
16 | g.28903034T>G | CA395415410 | ATP2A1 | c.2749T>G (p.Ser917Ala) c.2374T>G (p.Ser792Ala) | |
16 | g.28903035C>A | CA395415411 | ATP2A1 | c.2750C>A (p.Ser917Tyr) c.2375C>A (p.Ser792Tyr) | gnomAD v4 |
16 | g.28903035C= | CA2215888965 | ATP2A1 | c.2750C= (p.Ser917=) c.2375C= (p.Ser792=) | |
16 | g.28903035C>G | CA395415412 | ATP2A1 | c.2750C>G (p.Ser917Cys) c.2375C>G (p.Ser792Cys) | ClinVar dbSNP |
16 | g.28903035C>T | CA395415413 | ATP2A1 | c.2750C>T (p.Ser917Phe) c.2375C>T (p.Ser792Phe) | |
16 | g.28903036C>A | CA494874466 | ATP2A1 | c.2751C>A (p.Ser917=) c.2376C>A (p.Ser792=) | |
16 | g.28903036C= | CA2215888968 | ATP2A1 | c.2751C= (p.Ser917=) c.2376C= (p.Ser792=) | |
16 | g.28903036C>G | CA494874467 | ATP2A1 | c.2751C>G (p.Ser917=) c.2376C>G (p.Ser792=) | dbSNP gnomAD v4 |
16 | g.28903036C>T | CA7987397 | ATP2A1 | c.2751C>T (p.Ser917=) c.2376C>T (p.Ser792=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903037G>A | CA7987398 | ATP2A1 | c.2752G>A (p.Glu918Lys) c.2377G>A (p.Glu793Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903037G>C | CA395415414 | ATP2A1 | c.2752G>C (p.Glu918Gln) c.2377G>C (p.Glu793Gln) | |
16 | g.28903037G= | CA2215888973 | ATP2A1 | c.2752G= (p.Glu918=) c.2377G= (p.Glu793=) | |
16 | g.28903037G>T | CA395415415 | ATP2A1 | c.2752G>T (p.Glu918Ter) c.2377G>T (p.Glu793Ter) | |
16 | g.28903038A>C | CA395415416 | ATP2A1 | c.2753A>C (p.Glu918Ala) c.2378A>C (p.Glu793Ala) | |
16 | g.28903038A>G | CA395415417 | ATP2A1 | c.2753A>G (p.Glu918Gly) c.2378A>G (p.Glu793Gly) | |
16 | g.28903038A>T | CA395415418 | ATP2A1 | c.2753A>T (p.Glu918Val) c.2378A>T (p.Glu793Val) | |
16 | g.28903039G>A | CA494874468 | ATP2A1 | c.2754G>A (p.Glu918=) c.2379G>A (p.Glu793=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903039G>C | CA395415420 | ATP2A1 | c.2754G>C (p.Glu918Asp) c.2379G>C (p.Glu793Asp) | |
16 | g.28903039G= | CA2215888980 | ATP2A1 | c.2754G= (p.Glu918=) c.2379G= (p.Glu793=) | |
16 | g.28903039G>T | CA395415419 | ATP2A1 | c.2754G>T (p.Glu918Asp) c.2379G>T (p.Glu793Asp) | |
16 | g.28903040A>C | CA395415421 | ATP2A1 | c.2755A>C (p.Asn919His) c.2380A>C (p.Asn794His) | |
16 | g.28903040A>G | CA395415422 | ATP2A1 | c.2755A>G (p.Asn919Asp) c.2380A>G (p.Asn794Asp) | |
16 | g.28903040A>T | CA395415423 | ATP2A1 | c.2755A>T (p.Asn919Tyr) c.2380A>T (p.Asn794Tyr) | |
16 | g.28903041A>C | CA395415424 | ATP2A1 | c.2756A>C (p.Asn919Thr) c.2381A>C (p.Asn794Thr) | |
16 | g.28903041A>G | CA395415425 | ATP2A1 | c.2756A>G (p.Asn919Ser) c.2381A>G (p.Asn794Ser) | |
16 | g.28903041A>T | CA395415426 | ATP2A1 | c.2756A>T (p.Asn919Ile) c.2381A>T (p.Asn794Ile) | |
16 | g.28903042C>A | CA7987399 | ATP2A1 | c.2757C>A (p.Asn919Lys) c.2382C>A (p.Asn794Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28903042C= | CA2215888984 | ATP2A1 | c.2757C= (p.Asn919=) c.2382C= (p.Asn794=) | |
16 | g.28903042C>G | CA395415427 | ATP2A1 | c.2757C>G (p.Asn919Lys) c.2382C>G (p.Asn794Lys) | |
16 | g.28903042C>T | CA494874469 | ATP2A1 | c.2757C>T (p.Asn919=) c.2382C>T (p.Asn794=) | |
16 | g.28903043C>A | CA395415428 | ATP2A1 | c.2758C>A (p.Gln920Lys) c.2383C>A (p.Gln795Lys) | |
16 | g.28903043C= | CA2215888992 | ATP2A1 | c.2758C= (p.Gln920=) c.2383C= (p.Gln795=) | |
16 | g.28903043C>G | CA395415429 | ATP2A1 | c.2758C>G (p.Gln920Glu) c.2383C>G (p.Gln795Glu) | gnomAD v4 |
16 | g.28903043C>T | CA16620184 | ATP2A1 | c.2758C>T (p.Gln920Ter) c.2383C>T (p.Gln795Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903044A= | CA2215889000 | ATP2A1 | c.2759A= (p.Gln920=) c.2384A= (p.Gln795=) | |
16 | g.28903044A>C | CA395415430 | ATP2A1 | c.2759A>C (p.Gln920Pro) c.2384A>C (p.Gln795Pro) | |
16 | g.28903044A>G | CA395415431 | ATP2A1 | c.2759A>G (p.Gln920Arg) c.2384A>G (p.Gln795Arg) | dbSNP |
16 | g.28903044A>T | CA395415432 | ATP2A1 | c.2759A>T (p.Gln920Leu) c.2384A>T (p.Gln795Leu) | |
16 | g.28903045G>A | CA494874470 | ATP2A1 | c.2760G>A (p.Gln920=) c.2385G>A (p.Gln795=) | |
16 | g.28903045G>C | CA395415434 | ATP2A1 | c.2760G>C (p.Gln920His) c.2385G>C (p.Gln795His) | |
16 | g.28903045G>T | CA395415433 | ATP2A1 | c.2760G>T (p.Gln920His) c.2385G>T (p.Gln795His) | gnomAD v4 |
16 | g.28903046T>A | CA395415435 | ATP2A1 | c.2761T>A (p.Ser921Thr) c.2386T>A (p.Ser796Thr) | |
16 | g.28903046T>C | CA395415436 | ATP2A1 | c.2761T>C (p.Ser921Pro) c.2386T>C (p.Ser796Pro) | |
16 | g.28903046T>G | CA395415437 | ATP2A1 | c.2761T>G (p.Ser921Ala) c.2386T>G (p.Ser796Ala) | |
16 | g.28903047C>A | CA395415438 | ATP2A1 | c.2762C>A (p.Ser921Tyr) c.2387C>A (p.Ser796Tyr) | |
16 | g.28903047C>G | CA395415439 | ATP2A1 | c.2762C>G (p.Ser921Cys) c.2387C>G (p.Ser796Cys) | |
16 | g.28903047C>T | CA395415440 | ATP2A1 | c.2762C>T (p.Ser921Phe) c.2387C>T (p.Ser796Phe) | ClinVar dbSNP |
16 | g.28903048C>A | CA494874471 | ATP2A1 | c.2763C>A (p.Ser921=) c.2388C>A (p.Ser796=) | |
16 | g.28903048C>G | CA494874472 | ATP2A1 | c.2763C>G (p.Ser921=) c.2388C>G (p.Ser796=) | |
16 | g.28903048C>T | CA494874473 | ATP2A1 | c.2763C>T (p.Ser921=) c.2388C>T (p.Ser796=) | |
16 | g.28903049C>A | CA395415441 | ATP2A1 | c.2764C>A (p.Leu922Met) c.2389C>A (p.Leu797Met) | |
16 | g.28903049C>G | CA395415442 | ATP2A1 | c.2764C>G (p.Leu922Val) c.2389C>G (p.Leu797Val) | |
16 | g.28903049C>T | CA494874474 | ATP2A1 | c.2764C>T (p.Leu922=) c.2389C>T (p.Leu797=) | ClinVar dbSNP |
16 | g.28903050T>A | CA395415443 | ATP2A1 | c.2765T>A (p.Leu922Gln) c.2390T>A (p.Leu797Gln) | |
16 | g.28903050T>C | CA395415444 | ATP2A1 | c.2765T>C (p.Leu922Pro) c.2390T>C (p.Leu797Pro) | dbSNP gnomAD v4 |
16 | g.28903050T>G | CA395415445 | ATP2A1 | c.2765T>G (p.Leu922Arg) c.2390T>G (p.Leu797Arg) | |
16 | g.28903050T= | CA2215889003 | ATP2A1 | c.2765T= (p.Leu922=) c.2390T= (p.Leu797=) | |
16 | g.28903051G>A | CA494874477 | ATP2A1 | c.2766G>A (p.Leu922=) c.2391G>A (p.Leu797=) | |
16 | g.28903051G>C | CA494874476 | ATP2A1 | c.2766G>C (p.Leu922=) c.2391G>C (p.Leu797=) | |
16 | g.28903051G>T | CA494874475 | ATP2A1 | c.2766G>T (p.Leu922=) c.2391G>T (p.Leu797=) | |
16 | g.28903052C>A | CA395415446 | ATP2A1 | c.2767C>A (p.Leu923Met) c.2392C>A (p.Leu798Met) | |
16 | g.28903052C>G | CA395415447 | ATP2A1 | c.2767C>G (p.Leu923Val) c.2392C>G (p.Leu798Val) | |
16 | g.28903052C>T | CA494874478 | ATP2A1 | c.2767C>T (p.Leu923=) c.2392C>T (p.Leu798=) | |
16 | g.28903053T>A | CA7987400 | ATP2A1 | c.2768T>A (p.Leu923Gln) c.2393T>A (p.Leu798Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28903053T>C | CA395415449 | ATP2A1 | c.2768T>C (p.Leu923Pro) c.2393T>C (p.Leu798Pro) | |
16 | g.28903053T>G | CA395415448 | ATP2A1 | c.2768T>G (p.Leu923Arg) c.2393T>G (p.Leu798Arg) | |
16 | g.28903053T= | CA2215889007 | ATP2A1 | c.2768T= (p.Leu923=) c.2393T= (p.Leu798=) | |
16 | g.28903054G>A | CA494874479 | ATP2A1 | c.2769G>A (p.Leu923=) c.2394G>A (p.Leu798=) | |
16 | g.28903054G>C | CA494874480 | ATP2A1 | c.2769G>C (p.Leu923=) c.2394G>C (p.Leu798=) | |
16 | g.28903054G>T | CA494874481 | ATP2A1 | c.2769G>T (p.Leu923=) c.2394G>T (p.Leu798=) | |
16 | g.28903055_28903056dup | CA719742701 | ATP2A1 | c.2770_2771dup (p.Met925GlyfsTer6) c.2395_2396dup (p.Met800GlyfsTer6) | dbSNP |
16 | g.28903055C>A | CA494874482 | ATP2A1 | c.2770C>A (p.Arg924=) c.2395C>A (p.Arg799=) | |
16 | g.28903055C= | CA2215889013 | ATP2A1 | c.2770C= (p.Arg924=) c.2395C= (p.Arg799=) | |
16 | g.28903055C>G | CA395415450 | ATP2A1 | c.2770C>G (p.Arg924Gly) c.2395C>G (p.Arg799Gly) | |
16 | g.28903055C>T | CA395415451 | ATP2A1 | c.2770C>T (p.Arg924Trp) c.2395C>T (p.Arg799Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |