Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215011531T>ACA350483586ABCA12c.2240A>T (p.Gln747Leu)
c.1286A>T (p.Gln429Leu)
n.2484A>T
n.2682A>T
2g.215011531T>CCA350483587ABCA12c.2240A>G (p.Gln747Arg)
c.1286A>G (p.Gln429Arg)
n.2484A>G
n.2682A>G
2g.215011531T>GCA350483588ABCA12c.2240A>C (p.Gln747Pro)
c.1286A>C (p.Gln429Pro)
n.2484A>C
n.2682A>C
2g.215011532G>ACA350483589ABCA12c.2239C>T (p.Gln747Ter)
c.1285C>T (p.Gln429Ter)
n.2483C>T
n.2681C>T
2g.215011532G>CCA350483591ABCA12c.2239C>G (p.Gln747Glu)
c.1285C>G (p.Gln429Glu)
n.2483C>G
n.2681C>G
2g.215011532G>TCA350483590ABCA12c.2239C>A (p.Gln747Lys)
c.1285C>A (p.Gln429Lys)
n.2483C>A
n.2681C>A
2g.215011533G>ACA431151460ABCA12c.2238C>T (p.Ser746=)
c.1284C>T (p.Ser428=)
n.2482C>T
n.2680C>T
2g.215011533G>CCA431151461ABCA12c.2238C>G (p.Ser746=)
c.1284C>G (p.Ser428=)
n.2482C>G
n.2680C>G
2g.215011533G>TCA431151462ABCA12c.2238C>A (p.Ser746=)
c.1284C>A (p.Ser428=)
n.2482C>A
n.2680C>A
2g.215011534G>ACA350483592ABCA12c.2237C>T (p.Ser746Phe)
c.1283C>T (p.Ser428Phe)
n.2481C>T
n.2679C>T
2g.215011534G>CCA350483593ABCA12c.2237C>G (p.Ser746Cys)
c.1283C>G (p.Ser428Cys)
n.2481C>G
n.2679C>G
2g.215011534G>TCA350483595ABCA12c.2237C>A (p.Ser746Tyr)
c.1283C>A (p.Ser428Tyr)
n.2481C>A
n.2679C>A
2g.215011534_215011535delinsGACA1327174131ABCA12c.2236_2237delinsTC (p.Ser746=)
c.1282_1283delinsTC (p.Ser428=)
n.2480_2481delinsTC
n.2678_2679delinsTC
2g.215011535A>CCA350483596ABCA12c.2236T>G (p.Ser746Ala)
c.1282T>G (p.Ser428Ala)
n.2480T>G
n.2678T>G
2g.215011535A>GCA350483597ABCA12c.2236T>C (p.Ser746Pro)
c.1282T>C (p.Ser428Pro)
n.2480T>C
n.2678T>C
2g.215011535A>TCA350483598ABCA12c.2236T>A (p.Ser746Thr)
c.1282T>A (p.Ser428Thr)
n.2480T>A
n.2678T>A
2g.215011536delCA2092005ABCA12c.2236del (p.Ser746ProfsTer13)
c.1282del (p.Ser428ProfsTer13)
n.2480del
n.2678del
 dbSNP ExAC gnomAD v2
2g.215011536A=CA1327174132ABCA12c.2235T= (p.Ser745=)
c.1281T= (p.Ser427=)
n.2479T=
n.2677T=
2g.215011536A>CCA431151463ABCA12c.2235T>G (p.Ser745=)
c.1281T>G (p.Ser427=)
n.2479T>G
n.2677T>G
2g.215011536A>GCA431151465ABCA12c.2235T>C (p.Ser745=)
c.1281T>C (p.Ser427=)
n.2479T>C
n.2677T>C
 dbSNP gnomAD v2
2g.215011536A>TCA431151464ABCA12c.2235T>A (p.Ser745=)
c.1281T>A (p.Ser427=)
n.2479T>A
n.2677T>A
2g.215011537G>ACA350483599ABCA12c.2234C>T (p.Ser745Phe)
c.1280C>T (p.Ser427Phe)
n.2478C>T
n.2676C>T
2g.215011537G>CCA350483600ABCA12c.2234C>G (p.Ser745Cys)
c.1280C>G (p.Ser427Cys)
n.2478C>G
n.2676C>G
2g.215011537G>TCA350483601ABCA12c.2234C>A (p.Ser745Tyr)
c.1280C>A (p.Ser427Tyr)
n.2478C>A
n.2676C>A
2g.215011538A>CCA350483604ABCA12c.2233T>G (p.Ser745Ala)
c.1279T>G (p.Ser427Ala)
n.2477T>G
n.2675T>G
2g.215011538A>GCA350483603ABCA12c.2233T>C (p.Ser745Pro)
c.1279T>C (p.Ser427Pro)
n.2477T>C
n.2675T>C
2g.215011538A>TCA350483602ABCA12c.2233T>A (p.Ser745Thr)
c.1279T>A (p.Ser427Thr)
n.2477T>A
n.2675T>A
2g.215011539G>ACA431151466ABCA12c.2232C>T (p.Pro744=)
c.1278C>T (p.Pro426=)
n.2476C>T
n.2674C>T
 gnomAD v4
2g.215011539G>CCA431151467ABCA12c.2232C>G (p.Pro744=)
c.1278C>G (p.Pro426=)
n.2476C>G
n.2674C>G
2g.215011539G>TCA431151468ABCA12c.2232C>A (p.Pro744=)
c.1278C>A (p.Pro426=)
n.2476C>A
n.2674C>A
2g.215011540G>ACA350483605ABCA12c.2231C>T (p.Pro744Leu)
c.1277C>T (p.Pro426Leu)
n.2475C>T
n.2673C>T
 dbSNP gnomAD v3 gnomAD v4
2g.215011540G>CCA350483606ABCA12c.2231C>G (p.Pro744Arg)
c.1277C>G (p.Pro426Arg)
n.2475C>G
n.2673C>G
2g.215011540G=CA1327174133ABCA12c.2231C= (p.Pro744=)
c.1277C= (p.Pro426=)
n.2475C=
n.2673C=
2g.215011540G>TCA350483607ABCA12c.2231C>A (p.Pro744His)
c.1277C>A (p.Pro426His)
n.2475C>A
n.2673C>A
2g.215011545_215011552delCA645516078ABCA12c.2224_2231del (p.Met742LeufsTer17)
c.1270_1277del (p.Met424LeufsTer17)
n.2468_2475del
n.2666_2673del
 COSMIC COSMIC
2g.215011541G>ACA2092006ABCA12c.2230C>T (p.Pro744Ser)
c.1276C>T (p.Pro426Ser)
n.2474C>T
n.2672C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011541G>CCA350483608ABCA12c.2230C>G (p.Pro744Ala)
c.1276C>G (p.Pro426Ala)
n.2474C>G
n.2672C>G
 gnomAD v4
2g.215011541G=CA1327174134ABCA12c.2230C= (p.Pro744=)
c.1276C= (p.Pro426=)
n.2474C=
n.2672C=
2g.215011541G>TCA350483609ABCA12c.2230C>A (p.Pro744Thr)
c.1276C>A (p.Pro426Thr)
n.2474C>A
n.2672C>A
2g.215011542C>ACA431151469ABCA12c.2229G>T (p.Leu743=)
c.1275G>T (p.Leu425=)
n.2473G>T
n.2671G>T
2g.215011542C>GCA431151470ABCA12c.2229G>C (p.Leu743=)
c.1275G>C (p.Leu425=)
n.2473G>C
n.2671G>C
2g.215011542C>TCA431151471ABCA12c.2229G>A (p.Leu743=)
c.1275G>A (p.Leu425=)
n.2473G>A
n.2671G>A
2g.215011543A>CCA350483612ABCA12c.2228T>G (p.Leu743Arg)
c.1274T>G (p.Leu425Arg)
n.2472T>G
n.2670T>G
2g.215011543A>GCA350483610ABCA12c.2228T>C (p.Leu743Pro)
c.1274T>C (p.Leu425Pro)
n.2472T>C
n.2670T>C
 gnomAD v4
2g.215011543A>TCA350483611ABCA12c.2228T>A (p.Leu743Gln)
c.1274T>A (p.Leu425Gln)
n.2472T>A
n.2670T>A
2g.215011544G>ACA431151472ABCA12c.2227C>T (p.Leu743=)
c.1273C>T (p.Leu425=)
n.2471C>T
n.2669C>T
2g.215011544G>CCA350483613ABCA12c.2227C>G (p.Leu743Val)
c.1273C>G (p.Leu425Val)
n.2471C>G
n.2669C>G
2g.215011544G>TCA350483614ABCA12c.2227C>A (p.Leu743Met)
c.1273C>A (p.Leu425Met)
n.2471C>A
n.2669C>A
2g.215011545C>ACA2092007ABCA12c.2226G>T (p.Met742Ile)
c.1272G>T (p.Met424Ile)
n.2470G>T
n.2668G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011545C=CA1327174135ABCA12c.2226G= (p.Met742=)
c.1272G= (p.Met424=)
n.2470G=
n.2668G=

Number of alleles fetched