Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215011571T>ACA350483671ABCA12c.2200A>T (p.Ile734Phe)
c.1246A>T (p.Ile416Phe)
n.2444A>T
n.2642A>T
2g.215011571T>CCA350483672ABCA12c.2200A>G (p.Ile734Val)
c.1246A>G (p.Ile416Val)
n.2444A>G
n.2642A>G
2g.215011571T>GCA2092011ABCA12c.2200A>C (p.Ile734Leu)
c.1246A>C (p.Ile416Leu)
n.2444A>C
n.2642A>C
 dbSNP ExAC gnomAD v2
2g.215011571T=CA1327174146ABCA12c.2200A= (p.Ile734=)
c.1246A= (p.Ile416=)
n.2444A=
n.2642A=
2g.215011572T>ACA431151491ABCA12c.2199A>T (p.Gly733=)
c.1245A>T (p.Gly415=)
n.2443A>T
n.2641A>T
 gnomAD v4
2g.215011572T>CCA431151492ABCA12c.2199A>G (p.Gly733=)
c.1245A>G (p.Gly415=)
n.2443A>G
n.2641A>G
 gnomAD v4
2g.215011572T>GCA431151493ABCA12c.2199A>C (p.Gly733=)
c.1245A>C (p.Gly415=)
n.2443A>C
n.2641A>C
2g.215011573C>ACA350483673ABCA12c.2198G>T (p.Gly733Val)
c.1244G>T (p.Gly415Val)
n.2442G>T
n.2640G>T
2g.215011573C>GCA350483674ABCA12c.2198G>C (p.Gly733Ala)
c.1244G>C (p.Gly415Ala)
n.2442G>C
n.2640G>C
2g.215011573C>TCA350483675ABCA12c.2198G>A (p.Gly733Glu)
c.1244G>A (p.Gly415Glu)
n.2442G>A
n.2640G>A
 COSMIC COSMIC
2g.215011574C>ACA350483676ABCA12c.2197G>T (p.Gly733Ter)
c.1243G>T (p.Gly415Ter)
n.2441G>T
n.2639G>T
2g.215011574C>GCA350483677ABCA12c.2197G>C (p.Gly733Arg)
c.1243G>C (p.Gly415Arg)
n.2441G>C
n.2639G>C
2g.215011574C>TCA350483678ABCA12c.2197G>A (p.Gly733Arg)
c.1243G>A (p.Gly415Arg)
n.2441G>A
n.2639G>A
 gnomAD v4
2g.215011575T>ACA350483679ABCA12c.2196A>T (p.Gln732His)
c.1242A>T (p.Gln414His)
n.2440A>T
n.2638A>T
 COSMIC COSMIC
2g.215011575T>CCA431151494ABCA12c.2196A>G (p.Gln732=)
c.1242A>G (p.Gln414=)
n.2440A>G
n.2638A>G
 dbSNP gnomAD v4
2g.215011575T>GCA350483680ABCA12c.2196A>C (p.Gln732His)
c.1242A>C (p.Gln414His)
n.2440A>C
n.2638A>C
2g.215011575T=CA1327174147ABCA12c.2196A= (p.Gln732=)
c.1242A= (p.Gln414=)
n.2440A=
n.2638A=
2g.215011576T>ACA350483681ABCA12c.2195A>T (p.Gln732Leu)
c.1241A>T (p.Gln414Leu)
n.2439A>T
n.2637A>T
2g.215011576T>CCA350483682ABCA12c.2195A>G (p.Gln732Arg)
c.1241A>G (p.Gln414Arg)
n.2439A>G
n.2637A>G
 dbSNP gnomAD v4
2g.215011576T>GCA2092012ABCA12c.2195A>C (p.Gln732Pro)
c.1241A>C (p.Gln414Pro)
n.2439A>C
n.2637A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011576T=CA1327174148ABCA12c.2195A= (p.Gln732=)
c.1241A= (p.Gln414=)
n.2439A=
n.2637A=
2g.215011577G>ACA350483683ABCA12c.2194C>T (p.Gln732Ter)
c.1240C>T (p.Gln414Ter)
n.2438C>T
n.2636C>T
 ClinVar
2g.215011577G>CCA350483684ABCA12c.2194C>G (p.Gln732Glu)
c.1240C>G (p.Gln414Glu)
n.2438C>G
n.2636C>G
2g.215011577G>TCA350483685ABCA12c.2194C>A (p.Gln732Lys)
c.1240C>A (p.Gln414Lys)
n.2438C>A
n.2636C>A
2g.215011578A>CCA431151495ABCA12c.2193T>G (p.Ser731=)
c.1239T>G (p.Ser413=)
n.2437T>G
n.2635T>G
2g.215011578A>GCA431151496ABCA12c.2193T>C (p.Ser731=)
c.1239T>C (p.Ser413=)
n.2437T>C
n.2635T>C
 ClinVar
2g.215011578A>TCA431151497ABCA12c.2193T>A (p.Ser731=)
c.1239T>A (p.Ser413=)
n.2437T>A
n.2635T>A
2g.215011579G>ACA350483686ABCA12c.2192C>T (p.Ser731Phe)
c.1238C>T (p.Ser413Phe)
n.2436C>T
n.2634C>T
2g.215011579G>CCA350483687ABCA12c.2192C>G (p.Ser731Cys)
c.1238C>G (p.Ser413Cys)
n.2436C>G
n.2634C>G
2g.215011579G>TCA350483688ABCA12c.2192C>A (p.Ser731Tyr)
c.1238C>A (p.Ser413Tyr)
n.2436C>A
n.2634C>A
2g.215011580A>CCA350483689ABCA12c.2191T>G (p.Ser731Ala)
c.1237T>G (p.Ser413Ala)
n.2435T>G
n.2633T>G
 COSMIC COSMIC
2g.215011580A>GCA350483690ABCA12c.2191T>C (p.Ser731Pro)
c.1237T>C (p.Ser413Pro)
n.2435T>C
n.2633T>C
2g.215011580A>TCA350483691ABCA12c.2191T>A (p.Ser731Thr)
c.1237T>A (p.Ser413Thr)
n.2435T>A
n.2633T>A
2g.215011581A>CCA350483693ABCA12c.2190T>G (p.Cys730Trp)
c.1236T>G (p.Cys412Trp)
n.2434T>G
n.2632T>G
2g.215011581A>GCA431151498ABCA12c.2190T>C (p.Cys730=)
c.1236T>C (p.Cys412=)
n.2434T>C
n.2632T>C
 ClinVar gnomAD v4
2g.215011581A>TCA350483692ABCA12c.2190T>A (p.Cys730Ter)
c.1236T>A (p.Cys412Ter)
n.2434T>A
n.2632T>A
2g.215011582C>ACA350483694ABCA12c.2189G>T (p.Cys730Phe)
c.1235G>T (p.Cys412Phe)
n.2433G>T
n.2631G>T
2g.215011582C>GCA350483696ABCA12c.2189G>C (p.Cys730Ser)
c.1235G>C (p.Cys412Ser)
n.2433G>C
n.2631G>C
2g.215011582C>TCA350483695ABCA12c.2189G>A (p.Cys730Tyr)
c.1235G>A (p.Cys412Tyr)
n.2433G>A
n.2631G>A
2g.215011583delCA2577235297ABCA12c.2188del (p.Cys730ValfsTer10)
c.1234del (p.Cys412ValfsTer10)
n.2432del
n.2630del
2g.215011583A>CCA350483697ABCA12c.2188T>G (p.Cys730Gly)
c.1234T>G (p.Cys412Gly)
n.2432T>G
n.2630T>G
2g.215011583A>GCA350483698ABCA12c.2188T>C (p.Cys730Arg)
c.1234T>C (p.Cys412Arg)
n.2432T>C
n.2630T>C
 gnomAD v4 COSMIC COSMIC
2g.215011583A>TCA350483699ABCA12c.2188T>A (p.Cys730Ser)
c.1234T>A (p.Cys412Ser)
n.2432T>A
n.2630T>A
2g.215011584T>ACA350483700ABCA12c.2187A>T (p.Leu729Phe)
c.1233A>T (p.Leu411Phe)
n.2431A>T
n.2629A>T
2g.215011584T>CCA431151499ABCA12c.2187A>G (p.Leu729=)
c.1233A>G (p.Leu411=)
n.2431A>G
n.2629A>G
 dbSNP gnomAD v3 gnomAD v4
2g.215011584T>GCA350483701ABCA12c.2187A>C (p.Leu729Phe)
c.1233A>C (p.Leu411Phe)
n.2431A>C
n.2629A>C
2g.215011584T=CA1327174149ABCA12c.2187A= (p.Leu729=)
c.1233A= (p.Leu411=)
n.2431A=
n.2629A=
2g.215011585A>CCA350483702ABCA12c.2186T>G (p.Leu729Ter)
c.1232T>G (p.Leu411Ter)
n.2430T>G
n.2628T>G
2g.215011585A>GCA350483703ABCA12c.2186T>C (p.Leu729Ser)
c.1232T>C (p.Leu411Ser)
n.2430T>C
n.2628T>C
2g.215011585A>TCA350483704ABCA12c.2186T>A (p.Leu729Ter)
c.1232T>A (p.Leu411Ter)
n.2430T>A
n.2628T>A
2g.215011586A=CA1327174150ABCA12c.2185T= (p.Leu729=)
c.1231T= (p.Leu411=)
n.2429T=
n.2627T=
2g.215011586A>CCA350483705ABCA12c.2185T>G (p.Leu729Val)
c.1231T>G (p.Leu411Val)
n.2429T>G
n.2627T>G
2g.215011586A>GCA2092013ABCA12c.2185T>C (p.Leu729=)
c.1231T>C (p.Leu411=)
n.2429T>C
n.2627T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011586A>TCA350483706ABCA12c.2185T>A (p.Leu729Ile)
c.1231T>A (p.Leu411Ile)
n.2429T>A
n.2627T>A
2g.215011587T>ACA431151501ABCA12c.2184A>T (p.Ala728=)
c.1230A>T (p.Ala410=)
n.2428A>T
n.2626A>T
2g.215011587T>CCA64844461ABCA12c.2184A>G (p.Ala728=)
c.1230A>G (p.Ala410=)
n.2428A>G
n.2626A>G
 dbSNP
2g.215011587T>GCA431151500ABCA12c.2184A>C (p.Ala728=)
c.1230A>C (p.Ala410=)
n.2428A>C
n.2626A>C
2g.215011587T=CA1327174151ABCA12c.2184A= (p.Ala728=)
c.1230A= (p.Ala410=)
n.2428A=
n.2626A=
2g.215011588G>ACA350483709ABCA12c.2183C>T (p.Ala728Val)
c.1229C>T (p.Ala410Val)
n.2427C>T
n.2625C>T
2g.215011588G>CCA350483707ABCA12c.2183C>G (p.Ala728Gly)
c.1229C>G (p.Ala410Gly)
n.2427C>G
n.2625C>G
2g.215011588G>TCA350483708ABCA12c.2183C>A (p.Ala728Glu)
c.1229C>A (p.Ala410Glu)
n.2427C>A
n.2625C>A
2g.215011589C>ACA350483710ABCA12c.2182G>T (p.Ala728Ser)
c.1228G>T (p.Ala410Ser)
n.2426G>T
n.2624G>T
2g.215011589C=CA1327174153ABCA12c.2182G= (p.Ala728=)
c.1228G= (p.Ala410=)
n.2426G=
n.2624G=
2g.215011589C>GCA350483711ABCA12c.2182G>C (p.Ala728Pro)
c.1228G>C (p.Ala410Pro)
n.2426G>C
n.2624G>C
2g.215011589C>TCA350483712ABCA12c.2182G>A (p.Ala728Thr)
c.1228G>A (p.Ala410Thr)
n.2426G>A
n.2624G>A
 dbSNP gnomAD v2 gnomAD v4
2g.215011589_215011590delinsCTCA1327174152ABCA12c.2181_2182delinsAG (p.Gln727=)
c.1227_1228delinsAG (p.Gln409=)
n.2425_2426delinsAG
n.2623_2624delinsAG
2g.215011590T>ACA350483713ABCA12c.2181A>T (p.Gln727His)
c.1227A>T (p.Gln409His)
n.2425A>T
n.2623A>T
2g.215011590T>CCA431151502ABCA12c.2181A>G (p.Gln727=)
c.1227A>G (p.Gln409=)
n.2425A>G
n.2623A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.215011590T>GCA350483714ABCA12c.2181A>C (p.Gln727His)
c.1227A>C (p.Gln409His)
n.2425A>C
n.2623A>C
 dbSNP gnomAD v3 gnomAD v4
2g.215011590T=CA1327174154ABCA12c.2181A= (p.Gln727=)
c.1227A= (p.Gln409=)
n.2425A=
n.2623A=
2g.215011591delCA539837710ABCA12c.2181del (p.Ala728HisfsTer12)
c.1227del (p.Ala410HisfsTer12)
n.2425del
n.2623del
 dbSNP gnomAD v2 gnomAD v4
2g.215011591T>ACA350483715ABCA12c.2180A>T (p.Gln727Leu)
c.1226A>T (p.Gln409Leu)
n.2424A>T
n.2622A>T
2g.215011591T>CCA350483716ABCA12c.2180A>G (p.Gln727Arg)
c.1226A>G (p.Gln409Arg)
n.2424A>G
n.2622A>G
2g.215011591T>GCA350483717ABCA12c.2180A>C (p.Gln727Pro)
c.1226A>C (p.Gln409Pro)
n.2424A>C
n.2622A>C
2g.215011592G>ACA350483718ABCA12c.2179C>T (p.Gln727Ter)
c.1225C>T (p.Gln409Ter)
n.2423C>T
n.2621C>T
2g.215011592G>CCA350483719ABCA12c.2179C>G (p.Gln727Glu)
c.1225C>G (p.Gln409Glu)
n.2423C>G
n.2621C>G
2g.215011592G>TCA350483720ABCA12c.2179C>A (p.Gln727Lys)
c.1225C>A (p.Gln409Lys)
n.2423C>A
n.2621C>A
2g.215011593G>ACA431151503ABCA12c.2178C>T (p.Ser726=)
c.1224C>T (p.Ser408=)
n.2422C>T
n.2620C>T
 COSMIC COSMIC
2g.215011593G>CCA431151505ABCA12c.2178C>G (p.Ser726=)
c.1224C>G (p.Ser408=)
n.2422C>G
n.2620C>G
 dbSNP
2g.215011593G=CA1327174155ABCA12c.2178C= (p.Ser726=)
c.1224C= (p.Ser408=)
n.2422C=
n.2620C=
2g.215011593G>TCA431151504ABCA12c.2178C>A (p.Ser726=)
c.1224C>A (p.Ser408=)
n.2422C>A
n.2620C>A
2g.215011594G>ACA350483721ABCA12c.2177C>T (p.Ser726Phe)
c.1223C>T (p.Ser408Phe)
n.2421C>T
n.2619C>T
2g.215011594G>CCA350483722ABCA12c.2177C>G (p.Ser726Cys)
c.1223C>G (p.Ser408Cys)
n.2421C>G
n.2619C>G
 dbSNP gnomAD v4
2g.215011594G=CA1327174156ABCA12c.2177C= (p.Ser726=)
c.1223C= (p.Ser408=)
n.2421C=
n.2619C=
2g.215011594G>TCA2092014ABCA12c.2177C>A (p.Ser726Tyr)
c.1223C>A (p.Ser408Tyr)
n.2421C>A
n.2619C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011595A>CCA350483723ABCA12c.2176T>G (p.Ser726Ala)
c.1222T>G (p.Ser408Ala)
n.2420T>G
n.2618T>G
2g.215011595A>GCA350483724ABCA12c.2176T>C (p.Ser726Pro)
c.1222T>C (p.Ser408Pro)
n.2420T>C
n.2618T>C
2g.215011595A>TCA350483725ABCA12c.2176T>A (p.Ser726Thr)
c.1222T>A (p.Ser408Thr)
n.2420T>A
n.2618T>A
2g.215011596G>ACA431151506ABCA12c.2175C>T (p.Ile725=)
c.1221C>T (p.Ile407=)
n.2419C>T
n.2617C>T
 dbSNP gnomAD v2 gnomAD v4
2g.215011596G>CCA350483726ABCA12c.2175C>G (p.Ile725Met)
c.1221C>G (p.Ile407Met)
n.2419C>G
n.2617C>G
 gnomAD v4
2g.215011596G=CA1327174157ABCA12c.2175C= (p.Ile725=)
c.1221C= (p.Ile407=)
n.2419C=
n.2617C=
2g.215011596G>TCA431151507ABCA12c.2175C>A (p.Ile725=)
c.1221C>A (p.Ile407=)
n.2419C>A
n.2617C>A
2g.215011597A>CCA350483727ABCA12c.2174T>G (p.Ile725Ser)
c.1220T>G (p.Ile407Ser)
n.2418T>G
n.2616T>G
2g.215011597A>GCA350483728ABCA12c.2174T>C (p.Ile725Thr)
c.1220T>C (p.Ile407Thr)
n.2418T>C
n.2616T>C
2g.215011597A>TCA350483729ABCA12c.2174T>A (p.Ile725Asn)
c.1220T>A (p.Ile407Asn)
n.2418T>A
n.2616T>A
2g.215011598T>ACA350483730ABCA12c.2173A>T (p.Ile725Phe)
c.1219A>T (p.Ile407Phe)
n.2417A>T
n.2615A>T
2g.215011598T>CCA350483731ABCA12c.2173A>G (p.Ile725Val)
c.1219A>G (p.Ile407Val)
n.2417A>G
n.2615A>G
 dbSNP
2g.215011598T>GCA350483732ABCA12c.2173A>C (p.Ile725Leu)
c.1219A>C (p.Ile407Leu)
n.2417A>C
n.2615A>C
2g.215011598T=CA1327174158ABCA12c.2173A= (p.Ile725=)
c.1219A= (p.Ile407=)
n.2417A=
n.2615A=
2g.215011599G>ACA431151508ABCA12c.2172C>T (p.Thr724=)
c.1218C>T (p.Thr406=)
n.2416C>T
n.2614C>T
 ClinVar dbSNP
2g.215011599G>CCA431151509ABCA12c.2172C>G (p.Thr724=)
c.1218C>G (p.Thr406=)
n.2416C>G
n.2614C>G
2g.215011599G=CA1327174159ABCA12c.2172C= (p.Thr724=)
c.1218C= (p.Thr406=)
n.2416C=
n.2614C=
2g.215011599G>TCA431151510ABCA12c.2172C>A (p.Thr724=)
c.1218C>A (p.Thr406=)
n.2416C>A
n.2614C>A
2g.215011600G>ACA350483733ABCA12c.2171C>T (p.Thr724Ile)
c.1217C>T (p.Thr406Ile)
n.2415C>T
n.2613C>T
2g.215011600G>CCA350483734ABCA12c.2171C>G (p.Thr724Ser)
c.1217C>G (p.Thr406Ser)
n.2415C>G
n.2613C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011600G=CA1327174160ABCA12c.2171C= (p.Thr724=)
c.1217C= (p.Thr406=)
n.2415C=
n.2613C=
2g.215011600G>TCA350483735ABCA12c.2171C>A (p.Thr724Asn)
c.1217C>A (p.Thr406Asn)
n.2415C>A
n.2613C>A
2g.215011601T>ACA350483738ABCA12c.2170A>T (p.Thr724Ser)
c.1216A>T (p.Thr406Ser)
n.2414A>T
n.2612A>T
2g.215011601T>CCA350483737ABCA12c.2170A>G (p.Thr724Ala)
c.1216A>G (p.Thr406Ala)
n.2414A>G
n.2612A>G
2g.215011601T>GCA350483736ABCA12c.2170A>C (p.Thr724Pro)
c.1216A>C (p.Thr406Pro)
n.2414A>C
n.2612A>C
2g.215011602G>ACA431151511ABCA12c.2169C>T (p.Ser723=)
c.1215C>T (p.Ser405=)
n.2413C>T
n.2611C>T
 gnomAD v4
2g.215011602G>CCA350483739ABCA12c.2169C>G (p.Ser723Arg)
c.1215C>G (p.Ser405Arg)
n.2413C>G
n.2611C>G
 dbSNP
2g.215011602G=CA1327174161ABCA12c.2169C= (p.Ser723=)
c.1215C= (p.Ser405=)
n.2413C=
n.2611C=
2g.215011602G>TCA350483740ABCA12c.2169C>A (p.Ser723Arg)
c.1215C>A (p.Ser405Arg)
n.2413C>A
n.2611C>A
2g.215011603C>ACA350483741ABCA12c.2168G>T (p.Ser723Ile)
c.1214G>T (p.Ser405Ile)
n.2412G>T
n.2610G>T
2g.215011603C=CA1327174162ABCA12c.2168G= (p.Ser723=)
c.1214G= (p.Ser405=)
n.2412G=
n.2610G=
2g.215011603C>GCA350483742ABCA12c.2168G>C (p.Ser723Thr)
c.1214G>C (p.Ser405Thr)
n.2412G>C
n.2610G>C
2g.215011603C>TCA2092015ABCA12c.2168G>A (p.Ser723Asn)
c.1214G>A (p.Ser405Asn)
n.2412G>A
n.2610G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011604T>ACA350483743ABCA12c.2167A>T (p.Ser723Cys)
c.1213A>T (p.Ser405Cys)
n.2411A>T
n.2609A>T
2g.215011604T>CCA64844467ABCA12c.2167A>G (p.Ser723Gly)
c.1213A>G (p.Ser405Gly)
n.2411A>G
n.2609A>G
 dbSNP gnomAD v4
2g.215011604T>GCA350483744ABCA12c.2167A>C (p.Ser723Arg)
c.1213A>C (p.Ser405Arg)
n.2411A>C
n.2609A>C
2g.215011604T=CA1327174163ABCA12c.2167A= (p.Ser723=)
c.1213A= (p.Ser405=)
n.2411A=
n.2609A=
2g.215011605A>CCA350483745ABCA12c.2166T>G (p.Phe722Leu)
c.1212T>G (p.Phe404Leu)
n.2410T>G
n.2608T>G
2g.215011605A>GCA431151512ABCA12c.2166T>C (p.Phe722=)
c.1212T>C (p.Phe404=)
n.2410T>C
n.2608T>C
2g.215011605A>TCA350483746ABCA12c.2166T>A (p.Phe722Leu)
c.1212T>A (p.Phe404Leu)
n.2410T>A
n.2608T>A
2g.215011606A>CCA350483747ABCA12c.2165T>G (p.Phe722Cys)
c.1211T>G (p.Phe404Cys)
n.2409T>G
n.2607T>G
2g.215011606A>GCA350483748ABCA12c.2165T>C (p.Phe722Ser)
c.1211T>C (p.Phe404Ser)
n.2409T>C
n.2607T>C
2g.215011606A>TCA350483749ABCA12c.2165T>A (p.Phe722Tyr)
c.1211T>A (p.Phe404Tyr)
n.2409T>A
n.2607T>A
2g.215011607A>CCA350483752ABCA12c.2164T>G (p.Phe722Val)
c.1210T>G (p.Phe404Val)
n.2408T>G
n.2606T>G
2g.215011607A>GCA350483751ABCA12c.2164T>C (p.Phe722Leu)
c.1210T>C (p.Phe404Leu)
n.2408T>C
n.2606T>C
2g.215011607A>TCA350483750ABCA12c.2164T>A (p.Phe722Ile)
c.1210T>A (p.Phe404Ile)
n.2408T>A
n.2606T>A
2g.215011608T>ACA431151513ABCA12c.2163A>T (p.Ser721=)
c.1209A>T (p.Ser403=)
n.2407A>T
n.2605A>T
2g.215011608T>CCA64844473ABCA12c.2163A>G (p.Ser721=)
c.1209A>G (p.Ser403=)
n.2407A>G
n.2605A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.215011608T>GCA431151514ABCA12c.2163A>C (p.Ser721=)
c.1209A>C (p.Ser403=)
n.2407A>C
n.2605A>C
2g.215011608T=CA1327174164ABCA12c.2163A= (p.Ser721=)
c.1209A= (p.Ser403=)
n.2407A=
n.2605A=
2g.215011609G>ACA350483753ABCA12c.2162C>T (p.Ser721Leu)
c.1208C>T (p.Ser403Leu)
n.2406C>T
n.2604C>T
2g.215011609G>CCA350483755ABCA12c.2162C>G (p.Ser721Ter)
c.1208C>G (p.Ser403Ter)
n.2406C>G
n.2604C>G
2g.215011609G>TCA350483754ABCA12c.2162C>A (p.Ser721Ter)
c.1208C>A (p.Ser403Ter)
n.2406C>A
n.2604C>A
2g.215011610A=CA1327174165ABCA12c.2161T= (p.Ser721=)
c.1207T= (p.Ser403=)
n.2405T=
n.2603T=
2g.215011610A>CCA350483756ABCA12c.2161T>G (p.Ser721Ala)
c.1207T>G (p.Ser403Ala)
n.2405T>G
n.2603T>G
 dbSNP
2g.215011610A>GCA350483758ABCA12c.2161T>C (p.Ser721Pro)
c.1207T>C (p.Ser403Pro)
n.2405T>C
n.2603T>C
 dbSNP gnomAD v2 gnomAD v4
2g.215011610A>TCA350483757ABCA12c.2161T>A (p.Ser721Thr)
c.1207T>A (p.Ser403Thr)
n.2405T>A
n.2603T>A
2g.215011611T>ACA431151515ABCA12c.2160A>T (p.Gly720=)
c.1206A>T (p.Gly402=)
n.2404A>T
n.2602A>T
 gnomAD v4
2g.215011611T>CCA431151516ABCA12c.2160A>G (p.Gly720=)
c.1206A>G (p.Gly402=)
n.2404A>G
n.2602A>G
2g.215011611T>GCA431151517ABCA12c.2160A>C (p.Gly720=)
c.1206A>C (p.Gly402=)
n.2404A>C
n.2602A>C
2g.215011612C>ACA64844507ABCA12c.2159G>T (p.Gly720Val)
c.1205G>T (p.Gly402Val)
n.2403G>T
n.2601G>T
 dbSNP gnomAD v4
2g.215011612C=CA1327174166ABCA12c.2159G= (p.Gly720=)
c.1205G= (p.Gly402=)
n.2403G=
n.2601G=
2g.215011612C>GCA350483759ABCA12c.2159G>C (p.Gly720Ala)
c.1205G>C (p.Gly402Ala)
n.2403G>C
n.2601G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011612C>TCA10614260ABCA12c.2159G>A (p.Gly720Glu)
c.1205G>A (p.Gly402Glu)
n.2403G>A
n.2601G>A
 ClinVar dbSNP COSMIC COSMIC
2g.215011613C>ACA2092016ABCA12c.2158G>T (p.Gly720Ter)
c.1204G>T (p.Gly402Ter)
n.2402G>T
n.2600G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011613C=CA1327174167ABCA12c.2158G= (p.Gly720=)
c.1204G= (p.Gly402=)
n.2402G=
n.2600G=
2g.215011613C>GCA350483760ABCA12c.2158G>C (p.Gly720Arg)
c.1204G>C (p.Gly402Arg)
n.2402G>C
n.2600G>C
2g.215011613C>TCA350483761ABCA12c.2158G>A (p.Gly720Arg)
c.1204G>A (p.Gly402Arg)
n.2402G>A
n.2600G>A
 dbSNP gnomAD v2 gnomAD v4
2g.215011614T>ACA350483762ABCA12c.2157A>T (p.Gln719His)
c.1203A>T (p.Gln401His)
n.2401A>T
n.2599A>T
 dbSNP gnomAD v3 gnomAD v4
2g.215011614T>CCA2092017ABCA12c.2157A>G (p.Gln719=)
c.1203A>G (p.Gln401=)
n.2401A>G
n.2599A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011614T>GCA350483763ABCA12c.2157A>C (p.Gln719His)
c.1203A>C (p.Gln401His)
n.2401A>C
n.2599A>C
2g.215011614T=CA1327174168ABCA12c.2157A= (p.Gln719=)
c.1203A= (p.Gln401=)
n.2401A=
n.2599A=
2g.215011615delCA2586971328ABCA12c.2157del (p.Gly720AspfsTer20)
c.1203del (p.Gly402AspfsTer20)
n.2401del
n.2599del
2g.215011615T>ACA350483766ABCA12c.2156A>T (p.Gln719Leu)
c.1202A>T (p.Gln401Leu)
n.2400A>T
n.2598A>T
2g.215011615T>CCA350483765ABCA12c.2156A>G (p.Gln719Arg)
c.1202A>G (p.Gln401Arg)
n.2400A>G
n.2598A>G
2g.215011615T>GCA350483764ABCA12c.2156A>C (p.Gln719Pro)
c.1202A>C (p.Gln401Pro)
n.2400A>C
n.2598A>C
2g.215011616G>ACA350483767ABCA12c.2155C>T (p.Gln719Ter)
c.1201C>T (p.Gln401Ter)
n.2399C>T
n.2597C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.215011616G>CCA350483768ABCA12c.2155C>G (p.Gln719Glu)
c.1201C>G (p.Gln401Glu)
n.2399C>G
n.2597C>G
 dbSNP gnomAD v3 gnomAD v4
2g.215011616G=CA1327174169ABCA12c.2155C= (p.Gln719=)
c.1201C= (p.Gln401=)
n.2399C=
n.2597C=
2g.215011616G>TCA350483769ABCA12c.2155C>A (p.Gln719Lys)
c.1201C>A (p.Gln401Lys)
n.2399C>A
n.2597C>A
2g.215011617T>ACA431151519ABCA12c.2154A>T (p.Pro718=)
c.1200A>T (p.Pro400=)
n.2398A>T
n.2596A>T
2g.215011617T>CCA2092018ABCA12c.2154A>G (p.Pro718=)
c.1200A>G (p.Pro400=)
n.2398A>G
n.2596A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011617T>GCA431151520ABCA12c.2154A>C (p.Pro718=)
c.1200A>C (p.Pro400=)
n.2398A>C
n.2596A>C
 ClinVar
2g.215011617T=CA1327174170ABCA12c.2154A= (p.Pro718=)
c.1200A= (p.Pro400=)
n.2398A=
n.2596A=
2g.215011618G>ACA350483771ABCA12c.2153C>T (p.Pro718Leu)
c.1199C>T (p.Pro400Leu)
n.2397C>T
n.2595C>T
 gnomAD v4
2g.215011618G>CCA350483772ABCA12c.2153C>G (p.Pro718Arg)
c.1199C>G (p.Pro400Arg)
n.2397C>G
n.2595C>G
2g.215011618G>TCA350483774ABCA12c.2153C>A (p.Pro718Gln)
c.1199C>A (p.Pro400Gln)
n.2397C>A
n.2595C>A
2g.215011619G>ACA350483776ABCA12c.2152C>T (p.Pro718Ser)
c.1198C>T (p.Pro400Ser)
n.2396C>T
n.2594C>T
2g.215011619G>CCA350483782ABCA12c.2152C>G (p.Pro718Ala)
c.1198C>G (p.Pro400Ala)
n.2396C>G
n.2594C>G
2g.215011619G>TCA350483786ABCA12c.2152C>A (p.Pro718Thr)
c.1198C>A (p.Pro400Thr)
n.2396C>A
n.2594C>A
2g.215011620T>ACA431151521ABCA12c.2151A>T (p.Thr717=)
c.1197A>T (p.Thr399=)
n.2395A>T
n.2593A>T
2g.215011620T>CCA431151522ABCA12c.2151A>G (p.Thr717=)
c.1197A>G (p.Thr399=)
n.2395A>G
n.2593A>G
 gnomAD v4
2g.215011620T>GCA2092019ABCA12c.2151A>C (p.Thr717=)
c.1197A>C (p.Thr399=)
n.2395A>C
n.2593A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011620T=CA1327174171ABCA12c.2151A= (p.Thr717=)
c.1197A= (p.Thr399=)
n.2395A=
n.2593A=
2g.215011621G>ACA350483794ABCA12c.2150C>T (p.Thr717Ile)
c.1196C>T (p.Thr399Ile)
n.2394C>T
n.2592C>T
2g.215011621G>CCA2092020ABCA12c.2150C>G (p.Thr717Arg)
c.1196C>G (p.Thr399Arg)
n.2394C>G
n.2592C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011621G=CA1327174172ABCA12c.2150C= (p.Thr717=)
c.1196C= (p.Thr399=)
n.2394C=
n.2592C=
2g.215011621G>TCA350483792ABCA12c.2150C>A (p.Thr717Lys)
c.1196C>A (p.Thr399Lys)
n.2394C>A
n.2592C>A
2g.215011622T>ACA350483798ABCA12c.2149A>T (p.Thr717Ser)
c.1195A>T (p.Thr399Ser)
n.2393A>T
n.2591A>T
2g.215011622T>CCA350483800ABCA12c.2149A>G (p.Thr717Ala)
c.1195A>G (p.Thr399Ala)
n.2393A>G
n.2591A>G
2g.215011622T>GCA350483801ABCA12c.2149A>C (p.Thr717Pro)
c.1195A>C (p.Thr399Pro)
n.2393A>C
n.2591A>C
 gnomAD v4 COSMIC COSMIC
2g.215011623G>ACA431151525ABCA12c.2148C>T (p.Asn716=)
c.1194C>T (p.Asn398=)
n.2392C>T
n.2590C>T
2g.215011623G>CCA350483802ABCA12c.2148C>G (p.Asn716Lys)
c.1194C>G (p.Asn398Lys)
n.2392C>G
n.2590C>G
2g.215011623G>TCA350483804ABCA12c.2148C>A (p.Asn716Lys)
c.1194C>A (p.Asn398Lys)
n.2392C>A
n.2590C>A
 gnomAD v4
2g.215011624T>ACA350483807ABCA12c.2147A>T (p.Asn716Ile)
c.1193A>T (p.Asn398Ile)
n.2391A>T
n.2589A>T
2g.215011624T>CCA350483812ABCA12c.2147A>G (p.Asn716Ser)
c.1193A>G (p.Asn398Ser)
n.2391A>G
n.2589A>G
2g.215011624T>GCA350483814ABCA12c.2147A>C (p.Asn716Thr)
c.1193A>C (p.Asn398Thr)
n.2391A>C
n.2589A>C
2g.215011625T>ACA350483817ABCA12c.2146A>T (p.Asn716Tyr)
c.1192A>T (p.Asn398Tyr)
n.2390A>T
n.2588A>T
 dbSNP gnomAD v4
2g.215011625T>CCA350483818ABCA12c.2146A>G (p.Asn716Asp)
c.1192A>G (p.Asn398Asp)
n.2390A>G
n.2588A>G
2g.215011625T>GCA350483819ABCA12c.2146A>C (p.Asn716His)
c.1192A>C (p.Asn398His)
n.2390A>C
n.2588A>C
2g.215011625T=CA1327174173ABCA12c.2146A= (p.Asn716=)
c.1192A= (p.Asn398=)
n.2390A=
n.2588A=
2g.215011626C>ACA350483823ABCA12c.2145G>T (p.Met715Ile)
c.1191G>T (p.Met397Ile)
n.2389G>T
n.2587G>T
2g.215011626C=CA1327174174ABCA12c.2145G= (p.Met715=)
c.1191G= (p.Met397=)
n.2389G=
n.2587G=
2g.215011626C>GCA350483825ABCA12c.2145G>C (p.Met715Ile)
c.1191G>C (p.Met397Ile)
n.2389G>C
n.2587G>C
 dbSNP
2g.215011626C>TCA350483820ABCA12c.2145G>A (p.Met715Ile)
c.1191G>A (p.Met397Ile)
n.2389G>A
n.2587G>A
 COSMIC COSMIC
2g.215011627A>CCA350483829ABCA12c.2144T>G (p.Met715Arg)
c.1190T>G (p.Met397Arg)
n.2388T>G
n.2586T>G
 gnomAD v4
2g.215011627A>GCA350483831ABCA12c.2144T>C (p.Met715Thr)
c.1190T>C (p.Met397Thr)
n.2388T>C
n.2586T>C
 gnomAD v4
2g.215011627A>TCA350483833ABCA12c.2144T>A (p.Met715Lys)
c.1190T>A (p.Met397Lys)
n.2388T>A
n.2586T>A
2g.215011628T>ACA350483835ABCA12c.2143A>T (p.Met715Leu)
c.1189A>T (p.Met397Leu)
n.2387A>T
n.2585A>T
2g.215011628T>CCA350483836ABCA12c.2143A>G (p.Met715Val)
c.1189A>G (p.Met397Val)
n.2387A>G
n.2585A>G
2g.215011628T>GCA350483837ABCA12c.2143A>C (p.Met715Leu)
c.1189A>C (p.Met397Leu)
n.2387A>C
n.2585A>C
2g.215011629T>ACA431151527ABCA12c.2142A>T (p.Arg714=)
c.1188A>T (p.Arg396=)
n.2386A>T
n.2584A>T
2g.215011629T>CCA431151528ABCA12c.2142A>G (p.Arg714=)
c.1188A>G (p.Arg396=)
n.2386A>G
n.2584A>G
2g.215011629T>GCA431151529ABCA12c.2142A>C (p.Arg714=)
c.1188A>C (p.Arg396=)
n.2386A>C
n.2584A>C
2g.215011630C>ACA350483839ABCA12c.2141G>T (p.Arg714Leu)
c.1187G>T (p.Arg396Leu)
n.2385G>T
n.2583G>T
2g.215011630C=CA1327174175ABCA12c.2141G= (p.Arg714=)
c.1187G= (p.Arg396=)
n.2385G=
n.2583G=
2g.215011630C>GCA350483842ABCA12c.2141G>C (p.Arg714Pro)
c.1187G>C (p.Arg396Pro)
n.2385G>C
n.2583G>C
2g.215011630C>TCA2092021ABCA12c.2141G>A (p.Arg714Gln)
c.1187G>A (p.Arg396Gln)
n.2385G>A
n.2583G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.215011631G>ACA2092022ABCA12c.2140C>T (p.Arg714Ter)
c.1186C>T (p.Arg396Ter)
n.2384C>T
n.2582C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011631G>CCA350483847ABCA12c.2140C>G (p.Arg714Gly)
c.1186C>G (p.Arg396Gly)
n.2384C>G
n.2582C>G
2g.215011631G=CA1327174176ABCA12c.2140C= (p.Arg714=)
c.1186C= (p.Arg396=)
n.2384C=
n.2582C=
2g.215011631G>TCA431151530ABCA12c.2140C>A (p.Arg714=)
c.1186C>A (p.Arg396=)
n.2384C>A
n.2582C>A
 dbSNP gnomAD v2 gnomAD v4
2g.215011632G>ACA2092023ABCA12c.2139C>T (p.Asn713=)
c.1185C>T (p.Asn395=)
n.2383C>T
n.2581C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011632G>CCA350483854ABCA12c.2139C>G (p.Asn713Lys)
c.1185C>G (p.Asn395Lys)
n.2383C>G
n.2581C>G
2g.215011632G=CA1327174177ABCA12c.2139C= (p.Asn713=)
c.1185C= (p.Asn395=)
n.2383C=
n.2581C=
2g.215011632G>TCA350483855ABCA12c.2139C>A (p.Asn713Lys)
c.1185C>A (p.Asn395Lys)
n.2383C>A
n.2581C>A
2g.215011633T>ACA350483857ABCA12c.2138A>T (p.Asn713Ile)
c.1184A>T (p.Asn395Ile)
n.2382A>T
n.2580A>T
2g.215011633T>CCA350483858ABCA12c.2138A>G (p.Asn713Ser)
c.1184A>G (p.Asn395Ser)
n.2382A>G
n.2580A>G
 dbSNP gnomAD v3 gnomAD v4
2g.215011633T>GCA350483856ABCA12c.2138A>C (p.Asn713Thr)
c.1184A>C (p.Asn395Thr)
n.2382A>C
n.2580A>C
2g.215011633T=CA1327174178ABCA12c.2138A= (p.Asn713=)
c.1184A= (p.Asn395=)
n.2382A=
n.2580A=
2g.215011634T>ACA350483860ABCA12c.2137A>T (p.Asn713Tyr)
c.1183A>T (p.Asn395Tyr)
n.2381A>T
n.2579A>T
2g.215011634T>CCA350483861ABCA12c.2137A>G (p.Asn713Asp)
c.1183A>G (p.Asn395Asp)
n.2381A>G
n.2579A>G
 dbSNP gnomAD v4
2g.215011634T>GCA350483862ABCA12c.2137A>C (p.Asn713His)
c.1183A>C (p.Asn395His)
n.2381A>C
n.2579A>C
2g.215011634T=CA1327174179ABCA12c.2137A= (p.Asn713=)
c.1183A= (p.Asn395=)
n.2381A=
n.2579A=
2g.215011635G>ACA2092024ABCA12c.2136C>T (p.Ser712=)
c.1182C>T (p.Ser394=)
n.2380C>T
n.2578C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011635G>CCA350483863ABCA12c.2136C>G (p.Ser712Arg)
c.1182C>G (p.Ser394Arg)
n.2380C>G
n.2578C>G
 gnomAD v4
2g.215011635G=CA1327174180ABCA12c.2136C= (p.Ser712=)
c.1182C= (p.Ser394=)
n.2380C=
n.2578C=
2g.215011635G>TCA350483864ABCA12c.2136C>A (p.Ser712Arg)
c.1182C>A (p.Ser394Arg)
n.2380C>A
n.2578C>A
2g.215011636C>ACA350483869ABCA12c.2135G>T (p.Ser712Ile)
c.1181G>T (p.Ser394Ile)
n.2379G>T
n.2577G>T
2g.215011636C>GCA350483865ABCA12c.2135G>C (p.Ser712Thr)
c.1181G>C (p.Ser394Thr)
n.2379G>C
n.2577G>C
2g.215011636C>TCA350483868ABCA12c.2135G>A (p.Ser712Asn)
c.1181G>A (p.Ser394Asn)
n.2379G>A
n.2577G>A
2g.215011637T>ACA350483870ABCA12c.2134A>T (p.Ser712Cys)
c.1180A>T (p.Ser394Cys)
n.2378A>T
n.2576A>T
2g.215011637T>CCA350483872ABCA12c.2134A>G (p.Ser712Gly)
c.1180A>G (p.Ser394Gly)
n.2378A>G
n.2576A>G
 dbSNP gnomAD v2 gnomAD v4
2g.215011637T>GCA350483876ABCA12c.2134A>C (p.Ser712Arg)
c.1180A>C (p.Ser394Arg)
n.2378A>C
n.2576A>C
 COSMIC
2g.215011637T=CA1327174181ABCA12c.2134A= (p.Ser712=)
c.1180A= (p.Ser394=)
n.2378A=
n.2576A=
2g.215011638T>ACA350483877ABCA12c.2133A>T (p.Arg711Ser)
c.1179A>T (p.Arg393Ser)
n.2377A>T
n.2575A>T
2g.215011638T>CCA431151531ABCA12c.2133A>G (p.Arg711=)
c.1179A>G (p.Arg393=)
n.2377A>G
n.2575A>G
2g.215011638T>GCA350483879ABCA12c.2133A>C (p.Arg711Ser)
c.1179A>C (p.Arg393Ser)
n.2377A>C
n.2575A>C
2g.215011639C>ACA350483886ABCA12c.2132G>T (p.Arg711Ile)
c.1178G>T (p.Arg393Ile)
n.2376G>T
n.2574G>T
2g.215011639C>GCA350483882ABCA12c.2132G>C (p.Arg711Thr)
c.1178G>C (p.Arg393Thr)
n.2376G>C
n.2574G>C
2g.215011639C>TCA350483884ABCA12c.2132G>A (p.Arg711Lys)
c.1178G>A (p.Arg393Lys)
n.2376G>A
n.2574G>A
 COSMIC COSMIC
2g.215011640T>ACA350483887ABCA12c.2131A>T (p.Arg711Ter)
c.1177A>T (p.Arg393Ter)
n.2375A>T
n.2573A>T
 gnomAD v4
2g.215011640T>CCA350483888ABCA12c.2131A>G (p.Arg711Gly)
c.1177A>G (p.Arg393Gly)
n.2375A>G
n.2573A>G
2g.215011640T>GCA431151532ABCA12c.2131A>C (p.Arg711=)
c.1177A>C (p.Arg393=)
n.2375A>C
n.2573A>C
2g.215011641G>ACA431151533ABCA12c.2130C>T (p.Tyr710=)
c.1176C>T (p.Tyr392=)
n.2374C>T
n.2572C>T
 ClinVar gnomAD v4
2g.215011641G>CCA350483890ABCA12c.2130C>G (p.Tyr710Ter)
c.1176C>G (p.Tyr392Ter)
n.2374C>G
n.2572C>G
2g.215011641G>TCA350483897ABCA12c.2130C>A (p.Tyr710Ter)
c.1176C>A (p.Tyr392Ter)
n.2374C>A
n.2572C>A
2g.215011642T>ACA2092025ABCA12c.2129A>T (p.Tyr710Phe)
c.1175A>T (p.Tyr392Phe)
n.2373A>T
n.2571A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011642T>CCA2092026ABCA12c.2129A>G (p.Tyr710Cys)
c.1175A>G (p.Tyr392Cys)
n.2373A>G
n.2571A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011642T>GCA350483903ABCA12c.2129A>C (p.Tyr710Ser)
c.1175A>C (p.Tyr392Ser)
n.2373A>C
n.2571A>C
2g.215011642T=CA1327174182ABCA12c.2129A= (p.Tyr710=)
c.1175A= (p.Tyr392=)
n.2373A=
n.2571A=
2g.215011643A>CCA350483906ABCA12c.2128T>G (p.Tyr710Asp)
c.1174T>G (p.Tyr392Asp)
n.2372T>G
n.2570T>G
2g.215011643A>GCA350483907ABCA12c.2128T>C (p.Tyr710His)
c.1174T>C (p.Tyr392His)
n.2372T>C
n.2570T>C
 dbSNP gnomAD v3 gnomAD v4
2g.215011643A>TCA350483908ABCA12c.2128T>A (p.Tyr710Asn)
c.1174T>A (p.Tyr392Asn)
n.2372T>A
n.2570T>A
2g.215011644C>ACA350483909ABCA12c.2127G>T (p.Met709Ile)
c.1173G>T (p.Met391Ile)
n.2371G>T
n.2569G>T
2g.215011644C>GCA350483910ABCA12c.2127G>C (p.Met709Ile)
c.1173G>C (p.Met391Ile)
n.2371G>C
n.2569G>C
2g.215011644C>TCA350483913ABCA12c.2127G>A (p.Met709Ile)
c.1173G>A (p.Met391Ile)
n.2371G>A
n.2569G>A
2g.215011645A=CA1327174183ABCA12c.2126T= (p.Met709=)
c.1172T= (p.Met391=)
n.2370T=
n.2568T=
2g.215011645A>CCA350483917ABCA12c.2126T>G (p.Met709Arg)
c.1172T>G (p.Met391Arg)
n.2370T>G
n.2568T>G
2g.215011645A>GCA350483921ABCA12c.2126T>C (p.Met709Thr)
c.1172T>C (p.Met391Thr)
n.2370T>C
n.2568T>C
 dbSNP gnomAD v2 gnomAD v4
2g.215011645A>TCA350483919ABCA12c.2126T>A (p.Met709Lys)
c.1172T>A (p.Met391Lys)
n.2370T>A
n.2568T>A
2g.215011646T>ACA350483922ABCA12c.2125A>T (p.Met709Leu)
c.1171A>T (p.Met391Leu)
n.2369A>T
n.2567A>T
2g.215011646T>CCA350483923ABCA12c.2125A>G (p.Met709Val)
c.1171A>G (p.Met391Val)
n.2369A>G
n.2567A>G
2g.215011646T>GCA350483924ABCA12c.2125A>C (p.Met709Leu)
c.1171A>C (p.Met391Leu)
n.2369A>C
n.2567A>C
2g.215011647T>ACA431151534ABCA12c.2124A>T (p.Ala708=)
c.1170A>T (p.Ala390=)
n.2368A>T
n.2566A>T
 dbSNP
2g.215011647T>CCA2092027ABCA12c.2124A>G (p.Ala708=)
c.1170A>G (p.Ala390=)
n.2368A>G
n.2566A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011647T>GCA431151535ABCA12c.2124A>C (p.Ala708=)
c.1170A>C (p.Ala390=)
n.2368A>C
n.2566A>C
2g.215011647T=CA1327174184ABCA12c.2124A= (p.Ala708=)
c.1170A= (p.Ala390=)
n.2368A=
n.2566A=
2g.215011648G>ACA2092028ABCA12c.2123C>T (p.Ala708Val)
c.1169C>T (p.Ala390Val)
n.2367C>T
n.2565C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.215011648G>CCA350483935ABCA12c.2123C>G (p.Ala708Gly)
c.1169C>G (p.Ala390Gly)
n.2367C>G
n.2565C>G
2g.215011648G=CA1327174185ABCA12c.2123C= (p.Ala708=)
c.1169C= (p.Ala390=)
n.2367C=
n.2565C=
2g.215011648G>TCA350483938ABCA12c.2123C>A (p.Ala708Glu)
c.1169C>A (p.Ala390Glu)
n.2367C>A
n.2565C>A
 dbSNP
2g.215011649C>ACA350483947ABCA12c.2122G>T (p.Ala708Ser)
c.1168G>T (p.Ala390Ser)
n.2366G>T
n.2564G>T
2g.215011649C>GCA350483951ABCA12c.2122G>C (p.Ala708Pro)
c.1168G>C (p.Ala390Pro)
n.2366G>C
n.2564G>C
2g.215011649C>TCA350483956ABCA12c.2122G>A (p.Ala708Thr)
c.1168G>A (p.Ala390Thr)
n.2366G>A
n.2564G>A
2g.215011649_215011650insACA2662980457ABCA12c.2122-1_2122insT (n.2122-1_2122insT)
c.1168-1_1168insT (n.1168-1_1168insT)
n.2366-1_2366insT
n.2564-1_2564insT
 gnomAD v4
2g.215011650C>ACA350483959ABCA12c.2122-1G>T (n.2122-1G>T)
c.1168-1G>T (n.1168-1G>T)
n.2366-1G>T
n.2564-1G>T
2g.215011650C>GCA350483961ABCA12c.2122-1G>C (n.2122-1G>C)
c.1168-1G>C (n.1168-1G>C)
n.2366-1G>C
n.2564-1G>C
2g.215011650C>TCA350483965ABCA12c.2122-1G>A (n.2122-1G>A)
c.1168-1G>A (n.1168-1G>A)
n.2366-1G>A
n.2564-1G>A
2g.215011650_215011651insAAAATGTACAGAATTTCA2662980458ABCA12c.2122-2_2122-1insAAATTCTGTACATTTT (n.2122-2_2122-1insAAATTCTGTACATTTT)
c.1168-2_1168-1insAAATTCTGTACATTTT (n.1168-2_1168-1insAAATTCTGTACATTTT)
n.2366-2_2366-1insAAATTCTGTACATTTT
n.2564-2_2564-1insAAATTCTGTACATTTT
 gnomAD v4
2g.215011651T>ACA350483974ABCA12c.2122-2A>T (n.2122-2A>T)
c.1168-2A>T (n.1168-2A>T)
n.2366-2A>T
n.2564-2A>T
2g.215011651T>CCA350483969ABCA12c.2122-2A>G (n.2122-2A>G)
c.1168-2A>G (n.1168-2A>G)
n.2366-2A>G
n.2564-2A>G
2g.215011651T>GCA350483971ABCA12c.2122-2A>C (n.2122-2A>C)
c.1168-2A>C (n.1168-2A>C)
n.2366-2A>C
n.2564-2A>C
2g.215011652G>ACA2577235298ABCA12c.2122-3C>T (n.2122-3C>T)
c.1168-3C>T (n.1168-3C>T)
n.2366-3C>T
n.2564-3C>T
 gnomAD v4
2g.215011655_215011656insAAAAAAAACA2754210390ABCA12c.2122-6_2122-5insTTTTTTTT (n.2122-6_2122-5insTTTTTTTT)
c.1168-6_1168-5insTTTTTTTT (n.1168-6_1168-5insTTTTTTTT)
n.2366-6_2366-5insTTTTTTTT
n.2564-6_2564-5insTTTTTTTT
2g.215011656G>ACA2662980460ABCA12c.2122-7C>T (n.2122-7C>T)
c.1168-7C>T (n.1168-7C>T)
n.2366-7C>T
n.2564-7C>T
 gnomAD v4
2g.215011658C=CA1327174186ABCA12c.2122-9G= (n.2122-9G=)
c.1168-9G= (n.1168-9G=)
n.2366-9G=
n.2564-9G=
2g.215011658C>TCA1327174187ABCA12c.2122-9G>A (n.2122-9G>A)
c.1168-9G>A (n.1168-9G>A)
n.2366-9G>A
n.2564-9G>A
 dbSNP gnomAD v4
2g.215011659A=CA1327174188ABCA12c.2122-10T= (n.2122-10T=)
c.1168-10T= (n.1168-10T=)
n.2366-10T=
n.2564-10T=
2g.215011659A>CCA2092029ABCA12c.2122-10T>G (n.2122-10T>G)
c.1168-10T>G (n.1168-10T>G)
n.2366-10T>G
n.2564-10T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011663delCA2527221320ABCA12c.2122-10del (n.2122-10del)
c.1168-10del (n.1168-10del)
n.2366-10del
n.2564-10del
2g.215011660A>TCA2662980461ABCA12c.2122-11T>A (n.2122-11T>A)
c.1168-11T>A (n.1168-11T>A)
n.2366-11T>A
n.2564-11T>A
 gnomAD v4
2g.215011663A=CA1327174189ABCA12c.2122-14T= (n.2122-14T=)
c.1168-14T= (n.1168-14T=)
n.2366-14T=
n.2564-14T=
2g.215011663A>GCA2092030ABCA12c.2122-14T>C (n.2122-14T>C)
c.1168-14T>C (n.1168-14T>C)
n.2366-14T>C
n.2564-14T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011665C>TCA2739279443ABCA12c.2122-16G>A (n.2122-16G>A)
c.1168-16G>A (n.1168-16G>A)
n.2366-16G>A
n.2564-16G>A
 ClinVar
2g.215011667A=CA1327174190ABCA12c.2122-18T= (n.2122-18T=)
c.1168-18T= (n.1168-18T=)
n.2366-18T=
n.2564-18T=
2g.215011667A>GCA2092031ABCA12c.2122-18T>C (n.2122-18T>C)
c.1168-18T>C (n.1168-18T>C)
n.2366-18T>C
n.2564-18T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011670A=CA1327174192ABCA12c.2122-21T= (n.2122-21T=)
c.1168-21T= (n.1168-21T=)
n.2366-21T=
n.2564-21T=
2g.215011670A>GCA64844633ABCA12c.2122-21T>C (n.2122-21T>C)
c.1168-21T>C (n.1168-21T>C)
n.2366-21T>C
n.2564-21T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011670_215011671delinsATCA1327174191ABCA12c.2122-22_2122-21delinsAT (n.2122-22_2122-21delinsAT)
c.1168-22_1168-21delinsAT (n.1168-22_1168-21delinsAT)
n.2366-22_2366-21delinsAT
n.2564-22_2564-21delinsAT
2g.215011673delCA64844634ABCA12c.2122-22del (n.2122-22del)
c.1168-22del (n.1168-22del)
n.2366-22del
n.2564-22del
 dbSNP

Number of alleles fetched