Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215011517T>ACA350483555ABCA12c.2254A>T (p.Asn752Tyr)
c.1300A>T (p.Asn434Tyr)
n.2498A>T
n.2696A>T
2g.215011517T>CCA350483556ABCA12c.2254A>G (p.Asn752Asp)
c.1300A>G (p.Asn434Asp)
n.2498A>G
n.2696A>G
2g.215011517T>GCA350483557ABCA12c.2254A>C (p.Asn752His)
c.1300A>C (p.Asn434His)
n.2498A>C
n.2696A>C
2g.215011518G>ACA431151450ABCA12c.2253C>T (p.Gly751=)
c.1299C>T (p.Gly433=)
n.2497C>T
n.2695C>T
2g.215011518G>CCA431151451ABCA12c.2253C>G (p.Gly751=)
c.1299C>G (p.Gly433=)
n.2497C>G
n.2695C>G
2g.215011518G>TCA431151452ABCA12c.2253C>A (p.Gly751=)
c.1299C>A (p.Gly433=)
n.2497C>A
n.2695C>A
2g.215011519C>ACA350483560ABCA12c.2252G>T (p.Gly751Val)
c.1298G>T (p.Gly433Val)
n.2496G>T
n.2694G>T
2g.215011519C=CA1327174127ABCA12c.2252G= (p.Gly751=)
c.1298G= (p.Gly433=)
n.2496G=
n.2694G=
2g.215011519C>GCA350483558ABCA12c.2252G>C (p.Gly751Ala)
c.1298G>C (p.Gly433Ala)
n.2496G>C
n.2694G>C
2g.215011519C>TCA350483559ABCA12c.2252G>A (p.Gly751Asp)
c.1298G>A (p.Gly433Asp)
n.2496G>A
n.2694G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011519_215011520delinsACA2586971327ABCA12c.2251_2252delinsT (p.Gly751SerfsTer8)
c.1297_1298delinsT (p.Gly433SerfsTer8)
n.2495_2496delinsT
n.2693_2694delinsT
2g.215011520delCA2662980329ABCA12c.2252del (p.Gly751AlafsTer8)
c.1298del (p.Gly433AlafsTer8)
n.2496del
n.2694del
 gnomAD v4
2g.215011520C>ACA350483561ABCA12c.2251G>T (p.Gly751Cys)
c.1297G>T (p.Gly433Cys)
n.2495G>T
n.2693G>T
 gnomAD v4
2g.215011520C>GCA350483562ABCA12c.2251G>C (p.Gly751Arg)
c.1297G>C (p.Gly433Arg)
n.2495G>C
n.2693G>C
2g.215011520C>TCA350483563ABCA12c.2251G>A (p.Gly751Ser)
c.1297G>A (p.Gly433Ser)
n.2495G>A
n.2693G>A
2g.215011521T>ACA350483564ABCA12c.2250A>T (p.Lys750Asn)
c.1296A>T (p.Lys432Asn)
n.2494A>T
n.2692A>T
2g.215011521T>CCA431151453ABCA12c.2250A>G (p.Lys750=)
c.1296A>G (p.Lys432=)
n.2494A>G
n.2692A>G
2g.215011521T>GCA350483565ABCA12c.2250A>C (p.Lys750Asn)
c.1296A>C (p.Lys432Asn)
n.2494A>C
n.2692A>C
2g.215011522T>ACA350483566ABCA12c.2249A>T (p.Lys750Ile)
c.1295A>T (p.Lys432Ile)
n.2493A>T
n.2691A>T
2g.215011522T>CCA350483567ABCA12c.2249A>G (p.Lys750Arg)
c.1295A>G (p.Lys432Arg)
n.2493A>G
n.2691A>G
2g.215011522T>GCA350483568ABCA12c.2249A>C (p.Lys750Thr)
c.1295A>C (p.Lys432Thr)
n.2493A>C
n.2691A>C
2g.215011523T>ACA350483569ABCA12c.2248A>T (p.Lys750Ter)
c.1294A>T (p.Lys432Ter)
n.2492A>T
n.2690A>T
2g.215011523T>CCA350483570ABCA12c.2248A>G (p.Lys750Glu)
c.1294A>G (p.Lys432Glu)
n.2492A>G
n.2690A>G
 dbSNP
2g.215011523T>GCA350483571ABCA12c.2248A>C (p.Lys750Gln)
c.1294A>C (p.Lys432Gln)
n.2492A>C
n.2690A>C
2g.215011523T=CA1327174128ABCA12c.2248A= (p.Lys750=)
c.1294A= (p.Lys432=)
n.2492A=
n.2690A=
2g.215011524T>ACA431151454ABCA12c.2247A>T (p.Pro749=)
c.1293A>T (p.Pro431=)
n.2491A>T
n.2689A>T
2g.215011524T>CCA431151455ABCA12c.2247A>G (p.Pro749=)
c.1293A>G (p.Pro431=)
n.2491A>G
n.2689A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.215011524T>GCA431151456ABCA12c.2247A>C (p.Pro749=)
c.1293A>C (p.Pro431=)
n.2491A>C
n.2689A>C
2g.215011524T=CA1327174129ABCA12c.2247A= (p.Pro749=)
c.1293A= (p.Pro431=)
n.2491A=
n.2689A=
2g.215011525G>ACA350483573ABCA12c.2246C>T (p.Pro749Leu)
c.1292C>T (p.Pro431Leu)
n.2490C>T
n.2688C>T
2g.215011525G>CCA350483574ABCA12c.2246C>G (p.Pro749Arg)
c.1292C>G (p.Pro431Arg)
n.2490C>G
n.2688C>G
2g.215011525G>TCA350483572ABCA12c.2246C>A (p.Pro749Gln)
c.1292C>A (p.Pro431Gln)
n.2490C>A
n.2688C>A
2g.215011526G>ACA350483577ABCA12c.2245C>T (p.Pro749Ser)
c.1291C>T (p.Pro431Ser)
n.2489C>T
n.2687C>T
 gnomAD v4 COSMIC COSMIC
2g.215011526G>CCA350483575ABCA12c.2245C>G (p.Pro749Ala)
c.1291C>G (p.Pro431Ala)
n.2489C>G
n.2687C>G
2g.215011526G>TCA350483576ABCA12c.2245C>A (p.Pro749Thr)
c.1291C>A (p.Pro431Thr)
n.2489C>A
n.2687C>A
2g.215011527C>ACA350483578ABCA12c.2244G>T (p.Arg748Ser)
c.1290G>T (p.Arg430Ser)
n.2488G>T
n.2686G>T
2g.215011527C>GCA350483579ABCA12c.2244G>C (p.Arg748Ser)
c.1290G>C (p.Arg430Ser)
n.2488G>C
n.2686G>C
2g.215011527C>TCA431151457ABCA12c.2244G>A (p.Arg748=)
c.1290G>A (p.Arg430=)
n.2488G>A
n.2686G>A
2g.215011528C>ACA350483580ABCA12c.2243G>T (p.Arg748Met)
c.1289G>T (p.Arg430Met)
n.2487G>T
n.2685G>T
 dbSNP
2g.215011528C=CA1327174130ABCA12c.2243G= (p.Arg748=)
c.1289G= (p.Arg430=)
n.2487G=
n.2685G=
2g.215011528C>GCA350483581ABCA12c.2243G>C (p.Arg748Thr)
c.1289G>C (p.Arg430Thr)
n.2487G>C
n.2685G>C
2g.215011528C>TCA2092004ABCA12c.2243G>A (p.Arg748Lys)
c.1289G>A (p.Arg430Lys)
n.2487G>A
n.2685G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011529T>ACA350483582ABCA12c.2242A>T (p.Arg748Trp)
c.1288A>T (p.Arg430Trp)
n.2486A>T
n.2684A>T
2g.215011529T>CCA350483583ABCA12c.2242A>G (p.Arg748Gly)
c.1288A>G (p.Arg430Gly)
n.2486A>G
n.2684A>G
2g.215011529T>GCA431151458ABCA12c.2242A>C (p.Arg748=)
c.1288A>C (p.Arg430=)
n.2486A>C
n.2684A>C
2g.215011530C>ACA350483584ABCA12c.2241G>T (p.Gln747His)
c.1287G>T (p.Gln429His)
n.2485G>T
n.2683G>T
2g.215011530C>GCA350483585ABCA12c.2241G>C (p.Gln747His)
c.1287G>C (p.Gln429His)
n.2485G>C
n.2683G>C
 gnomAD v4
2g.215011530C>TCA431151459ABCA12c.2241G>A (p.Gln747=)
c.1287G>A (p.Gln429=)
n.2485G>A
n.2683G>A
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=
2g.215011545C>GCA350483615ABCA12c.2226G>C (p.Met742Ile)
c.1272G>C (p.Met424Ile)
n.2470G>C
n.2668G>C
2g.215011545C>TCA350483616ABCA12c.2226G>A (p.Met742Ile)
c.1272G>A (p.Met424Ile)
n.2470G>A
n.2668G>A
 COSMIC COSMIC
2g.215011546A=CA1327174136ABCA12c.2225T= (p.Met742=)
c.1271T= (p.Met424=)
n.2469T=
n.2667T=
2g.215011546A>CCA350483617ABCA12c.2225T>G (p.Met742Arg)
c.1271T>G (p.Met424Arg)
n.2469T>G
n.2667T>G
 dbSNP gnomAD v4
2g.215011546A>GCA2092008ABCA12c.2225T>C (p.Met742Thr)
c.1271T>C (p.Met424Thr)
n.2469T>C
n.2667T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011546A>TCA350483618ABCA12c.2225T>A (p.Met742Lys)
c.1271T>A (p.Met424Lys)
n.2469T>A
n.2667T>A
2g.215011547T>ACA350483619ABCA12c.2224A>T (p.Met742Leu)
c.1270A>T (p.Met424Leu)
n.2468A>T
n.2666A>T
2g.215011547T>CCA350483620ABCA12c.2224A>G (p.Met742Val)
c.1270A>G (p.Met424Val)
n.2468A>G
n.2666A>G
2g.215011547T>GCA350483621ABCA12c.2224A>C (p.Met742Leu)
c.1270A>C (p.Met424Leu)
n.2468A>C
n.2666A>C
2g.215011548G>ACA431151473ABCA12c.2223C>T (p.Ala741=)
c.1269C>T (p.Ala423=)
n.2467C>T
n.2665C>T
 dbSNP gnomAD v4
2g.215011548G>CCA431151474ABCA12c.2223C>G (p.Ala741=)
c.1269C>G (p.Ala423=)
n.2467C>G
n.2665C>G
2g.215011548G=CA1327174137ABCA12c.2223C= (p.Ala741=)
c.1269C= (p.Ala423=)
n.2467C=
n.2665C=
2g.215011548G>TCA431151475ABCA12c.2223C>A (p.Ala741=)
c.1269C>A (p.Ala423=)
n.2467C>A
n.2665C>A
2g.215011549G>ACA350483622ABCA12c.2222C>T (p.Ala741Val)
c.1268C>T (p.Ala423Val)
n.2466C>T
n.2664C>T
 gnomAD v4 COSMIC COSMIC
2g.215011549G>CCA350483623ABCA12c.2222C>G (p.Ala741Gly)
c.1268C>G (p.Ala423Gly)
n.2466C>G
n.2664C>G
2g.215011549G>TCA350483624ABCA12c.2222C>A (p.Ala741Asp)
c.1268C>A (p.Ala423Asp)
n.2466C>A
n.2664C>A
2g.215011550C>ACA350483625ABCA12c.2221G>T (p.Ala741Ser)
c.1267G>T (p.Ala423Ser)
n.2465G>T
n.2663G>T
 dbSNP
2g.215011550C>GCA350483626ABCA12c.2221G>C (p.Ala741Pro)
c.1267G>C (p.Ala423Pro)
n.2465G>C
n.2663G>C
2g.215011550C>TCA350483627ABCA12c.2221G>A (p.Ala741Thr)
c.1267G>A (p.Ala423Thr)
n.2465G>A
n.2663G>A
2g.215011551A=CA1327174138ABCA12c.2220T= (p.Thr740=)
c.1266T= (p.Thr422=)
n.2464T=
n.2662T=
2g.215011551A>CCA431151476ABCA12c.2220T>G (p.Thr740=)
c.1266T>G (p.Thr422=)
n.2464T>G
n.2662T>G
2g.215011551A>GCA431151478ABCA12c.2220T>C (p.Thr740=)
c.1266T>C (p.Thr422=)
n.2464T>C
n.2662T>C
2g.215011551A>TCA431151477ABCA12c.2220T>A (p.Thr740=)
c.1266T>A (p.Thr422=)
n.2464T>A
n.2662T>A
 dbSNP gnomAD v2 gnomAD v4
2g.215011552G>ACA350483628ABCA12c.2219C>T (p.Thr740Ile)
c.1265C>T (p.Thr422Ile)
n.2463C>T
n.2661C>T
 gnomAD v4
2g.215011552G>CCA350483629ABCA12c.2219C>G (p.Thr740Ser)
c.1265C>G (p.Thr422Ser)
n.2463C>G
n.2661C>G
 gnomAD v4
2g.215011552G>TCA350483630ABCA12c.2219C>A (p.Thr740Asn)
c.1265C>A (p.Thr422Asn)
n.2463C>A
n.2661C>A
2g.215011553T>ACA350483632ABCA12c.2218A>T (p.Thr740Ser)
c.1264A>T (p.Thr422Ser)
n.2462A>T
n.2660A>T
2g.215011553T>CCA350483633ABCA12c.2218A>G (p.Thr740Ala)
c.1264A>G (p.Thr422Ala)
n.2462A>G
n.2660A>G
2g.215011553T>GCA350483631ABCA12c.2218A>C (p.Thr740Pro)
c.1264A>C (p.Thr422Pro)
n.2462A>C
n.2660A>C
 gnomAD v4
2g.215011554T>ACA350483635ABCA12c.2217A>T (p.Leu739Phe)
c.1263A>T (p.Leu421Phe)
n.2461A>T
n.2659A>T
2g.215011554T>CCA431151479ABCA12c.2217A>G (p.Leu739=)
c.1263A>G (p.Leu421=)
n.2461A>G
n.2659A>G
 gnomAD v4
2g.215011554T>GCA350483634ABCA12c.2217A>C (p.Leu739Phe)
c.1263A>C (p.Leu421Phe)
n.2461A>C
n.2659A>C
2g.215011555A>CCA350483638ABCA12c.2216T>G (p.Leu739Ter)
c.1262T>G (p.Leu421Ter)
n.2460T>G
n.2658T>G
2g.215011555A>GCA350483636ABCA12c.2216T>C (p.Leu739Ser)
c.1262T>C (p.Leu421Ser)
n.2460T>C
n.2658T>C
2g.215011555A>TCA350483637ABCA12c.2216T>A (p.Leu739Ter)
c.1262T>A (p.Leu421Ter)
n.2460T>A
n.2658T>A
2g.215011556A>CCA350483639ABCA12c.2215T>G (p.Leu739Val)
c.1261T>G (p.Leu421Val)
n.2459T>G
n.2657T>G
2g.215011556A>GCA431151480ABCA12c.2215T>C (p.Leu739=)
c.1261T>C (p.Leu421=)
n.2459T>C
n.2657T>C
2g.215011556A>TCA350483640ABCA12c.2215T>A (p.Leu739Ile)
c.1261T>A (p.Leu421Ile)
n.2459T>A
n.2657T>A
2g.215011557A>CCA350483641ABCA12c.2214T>G (p.Tyr738Ter)
c.1260T>G (p.Tyr420Ter)
n.2458T>G
n.2656T>G
2g.215011557A>GCA431151481ABCA12c.2214T>C (p.Tyr738=)
c.1260T>C (p.Tyr420=)
n.2458T>C
n.2656T>C
2g.215011557A>TCA350483642ABCA12c.2214T>A (p.Tyr738Ter)
c.1260T>A (p.Tyr420Ter)
n.2458T>A
n.2656T>A
2g.215011558T>ACA350483645ABCA12c.2213A>T (p.Tyr738Phe)
c.1259A>T (p.Tyr420Phe)
n.2457A>T
n.2655A>T
2g.215011558T>CCA350483643ABCA12c.2213A>G (p.Tyr738Cys)
c.1259A>G (p.Tyr420Cys)
n.2457A>G
n.2655A>G
 dbSNP gnomAD v2 gnomAD v4
2g.215011558T>GCA350483644ABCA12c.2213A>C (p.Tyr738Ser)
c.1259A>C (p.Tyr420Ser)
n.2457A>C
n.2655A>C
2g.215011558T=CA1327174139ABCA12c.2213A= (p.Tyr738=)
c.1259A= (p.Tyr420=)
n.2457A=
n.2655A=
2g.215011559A=CA1327174140ABCA12c.2212T= (p.Tyr738=)
c.1258T= (p.Tyr420=)
n.2456T=
n.2654T=
2g.215011559A>CCA350483646ABCA12c.2212T>G (p.Tyr738Asp)
c.1258T>G (p.Tyr420Asp)
n.2456T>G
n.2654T>G
 dbSNP gnomAD v2
2g.215011559A>GCA350483647ABCA12c.2212T>C (p.Tyr738His)
c.1258T>C (p.Tyr420His)
n.2456T>C
n.2654T>C
 gnomAD v4
2g.215011559A>TCA350483648ABCA12c.2212T>A (p.Tyr738Asn)
c.1258T>A (p.Tyr420Asn)
n.2456T>A
n.2654T>A
2g.215011560T>ACA350483649ABCA12c.2211A>T (p.Glu737Asp)
c.1257A>T (p.Glu419Asp)
n.2455A>T
n.2653A>T
2g.215011560T>CCA431151482ABCA12c.2211A>G (p.Glu737=)
c.1257A>G (p.Glu419=)
n.2455A>G
n.2653A>G
 gnomAD v4
2g.215011560T>GCA350483650ABCA12c.2211A>C (p.Glu737Asp)
c.1257A>C (p.Glu419Asp)
n.2455A>C
n.2653A>C
2g.215011561T>ACA350483653ABCA12c.2210A>T (p.Glu737Val)
c.1256A>T (p.Glu419Val)
n.2454A>T
n.2652A>T
2g.215011561T>CCA350483651ABCA12c.2210A>G (p.Glu737Gly)
c.1256A>G (p.Glu419Gly)
n.2454A>G
n.2652A>G
2g.215011561T>GCA350483652ABCA12c.2210A>C (p.Glu737Ala)
c.1256A>C (p.Glu419Ala)
n.2454A>C
n.2652A>C
2g.215011561_215011562delinsTCCA1327174141ABCA12c.2209_2210delinsGA (p.Glu737=)
c.1255_1256delinsGA (p.Glu419=)
n.2453_2454delinsGA
n.2651_2652delinsGA
2g.215011562delCA1327174142ABCA12c.2209del (p.Glu737AsnfsTer3)
c.1255del (p.Glu419AsnfsTer3)
n.2453del
n.2651del
 dbSNP
2g.215011562C>ACA350483654ABCA12c.2209G>T (p.Glu737Ter)
c.1255G>T (p.Glu419Ter)
n.2453G>T
n.2651G>T
2g.215011562C=CA1327174143ABCA12c.2209G= (p.Glu737=)
c.1255G= (p.Glu419=)
n.2453G=
n.2651G=
2g.215011562C>GCA350483655ABCA12c.2209G>C (p.Glu737Gln)
c.1255G>C (p.Glu419Gln)
n.2453G>C
n.2651G>C
2g.215011562C>TCA2092009ABCA12c.2209G>A (p.Glu737Lys)
c.1255G>A (p.Glu419Lys)
n.2453G>A
n.2651G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011563A>CCA431151483ABCA12c.2208T>G (p.Thr736=)
c.1254T>G (p.Thr418=)
n.2452T>G
n.2650T>G
2g.215011563A>GCA431151484ABCA12c.2208T>C (p.Thr736=)
c.1254T>C (p.Thr418=)
n.2452T>C
n.2650T>C
2g.215011563A>TCA431151485ABCA12c.2208T>A (p.Thr736=)
c.1254T>A (p.Thr418=)
n.2452T>A
n.2650T>A
2g.215011564G>ACA350483656ABCA12c.2207C>T (p.Thr736Ile)
c.1253C>T (p.Thr418Ile)
n.2451C>T
n.2649C>T
2g.215011564G>CCA350483657ABCA12c.2207C>G (p.Thr736Ser)
c.1253C>G (p.Thr418Ser)
n.2451C>G
n.2649C>G
2g.215011564G>TCA350483658ABCA12c.2207C>A (p.Thr736Asn)
c.1253C>A (p.Thr418Asn)
n.2451C>A
n.2649C>A
2g.215011565T>ACA350483659ABCA12c.2206A>T (p.Thr736Ser)
c.1252A>T (p.Thr418Ser)
n.2450A>T
n.2648A>T
2g.215011565T>CCA350483660ABCA12c.2206A>G (p.Thr736Ala)
c.1252A>G (p.Thr418Ala)
n.2450A>G
n.2648A>G
 dbSNP gnomAD v3 gnomAD v4
2g.215011565T>GCA350483661ABCA12c.2206A>C (p.Thr736Pro)
c.1252A>C (p.Thr418Pro)
n.2450A>C
n.2648A>C
2g.215011565T=CA1327174144ABCA12c.2206A= (p.Thr736=)
c.1252A= (p.Thr418=)
n.2450A=
n.2648A=
2g.215011566G>ACA431151488ABCA12c.2205C>T (p.Thr735=)
c.1251C>T (p.Thr417=)
n.2449C>T
n.2647C>T
2g.215011566G>CCA431151486ABCA12c.2205C>G (p.Thr735=)
c.1251C>G (p.Thr417=)
n.2449C>G
n.2647C>G
2g.215011566G>TCA431151487ABCA12c.2205C>A (p.Thr735=)
c.1251C>A (p.Thr417=)
n.2449C>A
n.2647C>A
2g.215011567G>ACA350483662ABCA12c.2204C>T (p.Thr735Ile)
c.1250C>T (p.Thr417Ile)
n.2448C>T
n.2646C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.215011567G>CCA2092010ABCA12c.2204C>G (p.Thr735Ser)
c.1250C>G (p.Thr417Ser)
n.2448C>G
n.2646C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011567G=CA1327174145ABCA12c.2204C= (p.Thr735=)
c.1250C= (p.Thr417=)
n.2448C=
n.2646C=
2g.215011567G>TCA350483663ABCA12c.2204C>A (p.Thr735Asn)
c.1250C>A (p.Thr417Asn)
n.2448C>A
n.2646C>A
2g.215011568T>ACA350483664ABCA12c.2203A>T (p.Thr735Ser)
c.1249A>T (p.Thr417Ser)
n.2447A>T
n.2645A>T
2g.215011568T>CCA350483666ABCA12c.2203A>G (p.Thr735Ala)
c.1249A>G (p.Thr417Ala)
n.2447A>G
n.2645A>G
2g.215011568T>GCA350483665ABCA12c.2203A>C (p.Thr735Pro)
c.1249A>C (p.Thr417Pro)
n.2447A>C
n.2645A>C
2g.215011569A>CCA350483667ABCA12c.2202T>G (p.Ile734Met)
c.1248T>G (p.Ile416Met)
n.2446T>G
n.2644T>G
2g.215011569A>GCA431151489ABCA12c.2202T>C (p.Ile734=)
c.1248T>C (p.Ile416=)
n.2446T>C
n.2644T>C
2g.215011569A>TCA431151490ABCA12c.2202T>A (p.Ile734=)
c.1248T>A (p.Ile416=)
n.2446T>A
n.2644T>A
2g.215011570A>CCA350483668ABCA12c.2201T>G (p.Ile734Ser)
c.1247T>G (p.Ile416Ser)
n.2445T>G
n.2643T>G
 COSMIC
2g.215011570A>GCA350483669ABCA12c.2201T>C (p.Ile734Thr)
c.1247T>C (p.Ile416Thr)
n.2445T>C
n.2643T>C
2g.215011570A>TCA350483670ABCA12c.2201T>A (p.Ile734Asn)
c.1247T>A (p.Ile416Asn)
n.2445T>A
n.2643T>A
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=

Number of alleles fetched