Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.180604767_180613470del | CA2580614813 | FLT4 | c.3332-356_3894-1373del c.3581-356_4143-1373del c.3563-356_4125-1373del c.3581-356_*40-1373del c.3350-356_3912-1373del c.3272-356_3834-1373del c.2873-356_3435-1373del n.3593-356_4180-1373del c.3563-356_*40-1373del c.3254-356_3816-1373del n.3797-356_4384-1373del | ClinVar |
5 | g.180613051C>A | CA362499966 | FLT4 | c.3391G>T (p.Gly1131Cys) n.3741G>T n.343G>T c.*2334G>T (n.*2334G>T) c.3640G>T (p.Gly1214Cys) c.3622G>T (p.Gly1208Cys) c.3409G>T (p.Gly1137Cys) c.3331G>T (p.Gly1111Cys) c.2932G>T (p.Gly978Cys) n.3652G>T c.3313G>T (p.Gly1105Cys) n.3856G>T | |
5 | g.180613051C= | CA1604719149 | FLT4 | c.3391G= (p.Gly1131=) n.3741G= n.343G= c.*2334G= (n.*2334G=) c.3640G= (p.Gly1214=) c.3622G= (p.Gly1208=) c.3409G= (p.Gly1137=) c.3331G= (p.Gly1111=) c.2932G= (p.Gly978=) n.3652G= c.3313G= (p.Gly1105=) n.3856G= | |
5 | g.180613051C>G | CA362499968 | FLT4 | c.3391G>C (p.Gly1131Arg) n.3741G>C n.343G>C c.*2334G>C (n.*2334G>C) c.3640G>C (p.Gly1214Arg) c.3622G>C (p.Gly1208Arg) c.3409G>C (p.Gly1137Arg) c.3331G>C (p.Gly1111Arg) c.2932G>C (p.Gly978Arg) n.3652G>C c.3313G>C (p.Gly1105Arg) n.3856G>C | ClinVar dbSNP |
5 | g.180613051C>T | CA362499967 | FLT4 | c.3391G>A (p.Gly1131Ser) n.3741G>A n.343G>A c.*2334G>A (n.*2334G>A) c.3640G>A (p.Gly1214Ser) c.3622G>A (p.Gly1208Ser) c.3409G>A (p.Gly1137Ser) c.3331G>A (p.Gly1111Ser) c.2932G>A (p.Gly978Ser) n.3652G>A c.3313G>A (p.Gly1105Ser) n.3856G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.180613052G>A | CA3605857 | FLT4 | c.3390C>T (p.Asp1130=) n.3740C>T n.342C>T c.*2333C>T (n.*2333C>T) c.3639C>T (p.Asp1213=) c.3621C>T (p.Asp1207=) c.3408C>T (p.Asp1136=) c.3330C>T (p.Asp1110=) c.2931C>T (p.Asp977=) n.3651C>T c.3312C>T (p.Asp1104=) n.3855C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.180613052G>C | CA362499969 | FLT4 | c.3390C>G (p.Asp1130Glu) n.3740C>G n.342C>G c.*2333C>G (n.*2333C>G) c.3639C>G (p.Asp1213Glu) c.3621C>G (p.Asp1207Glu) c.3408C>G (p.Asp1136Glu) c.3330C>G (p.Asp1110Glu) c.2931C>G (p.Asp977Glu) n.3651C>G c.3312C>G (p.Asp1104Glu) n.3855C>G | dbSNP |
5 | g.180613052G= | CA1604719150 | FLT4 | c.3390C= (p.Asp1130=) n.3740C= n.342C= c.*2333C= (n.*2333C=) c.3639C= (p.Asp1213=) c.3621C= (p.Asp1207=) c.3408C= (p.Asp1136=) c.3330C= (p.Asp1110=) c.2931C= (p.Asp977=) n.3651C= c.3312C= (p.Asp1104=) n.3855C= | |
5 | g.180613052G>T | CA362499970 | FLT4 | c.3390C>A (p.Asp1130Glu) n.3740C>A n.342C>A c.*2333C>A (n.*2333C>A) c.3639C>A (p.Asp1213Glu) c.3621C>A (p.Asp1207Glu) c.3408C>A (p.Asp1136Glu) c.3330C>A (p.Asp1110Glu) c.2931C>A (p.Asp977Glu) n.3651C>A c.3312C>A (p.Asp1104Glu) n.3855C>A | |
5 | g.180613052_180613054delinsGTC | CA1604719151 | FLT4 | c.3388_3390delinsGAC (p.Asp1130=) n.3738_3740delinsGAC n.340_342delinsGAC c.*2331_*2333delinsGAC (n.*2331_*2333delinsGAC) c.3637_3639delinsGAC (p.Asp1213=) c.3619_3621delinsGAC (p.Asp1207=) c.3406_3408delinsGAC (p.Asp1136=) c.3328_3330delinsGAC (p.Asp1110=) c.2929_2931delinsGAC (p.Asp977=) n.3649_3651delinsGAC c.3310_3312delinsGAC (p.Asp1104=) n.3853_3855delinsGAC | |
5 | g.180613053T>A | CA362499971 | FLT4 | c.3389A>T (p.Asp1130Val) n.3739A>T n.341A>T c.*2332A>T (n.*2332A>T) c.3638A>T (p.Asp1213Val) c.3620A>T (p.Asp1207Val) c.3407A>T (p.Asp1136Val) c.3329A>T (p.Asp1110Val) c.2930A>T (p.Asp977Val) n.3650A>T c.3311A>T (p.Asp1104Val) n.3854A>T | |
5 | g.180613053T>C | CA362499972 | FLT4 | c.3389A>G (p.Asp1130Gly) n.3739A>G n.341A>G c.*2332A>G (n.*2332A>G) c.3638A>G (p.Asp1213Gly) c.3620A>G (p.Asp1207Gly) c.3407A>G (p.Asp1136Gly) c.3329A>G (p.Asp1110Gly) c.2930A>G (p.Asp977Gly) n.3650A>G c.3311A>G (p.Asp1104Gly) n.3854A>G | |
5 | g.180613053T>G | CA362499973 | FLT4 | c.3389A>C (p.Asp1130Ala) n.3739A>C n.341A>C c.*2332A>C (n.*2332A>C) c.3638A>C (p.Asp1213Ala) c.3620A>C (p.Asp1207Ala) c.3407A>C (p.Asp1136Ala) c.3329A>C (p.Asp1110Ala) c.2930A>C (p.Asp977Ala) n.3650A>C c.3311A>C (p.Asp1104Ala) n.3854A>C | |
5 | g.180613057_180613058del | CA564960714 | FLT4 | c.3388_3389del (p.Asp1130ArgfsTer?) n.3738_3739del n.340_341del c.*2331_*2332del (n.*2331_*2332del) c.3637_3638del (p.Asp1213ArgfsTer?) c.3619_3620del (p.Asp1207ArgfsTer?) c.3406_3407del (p.Asp1136ArgfsTer?) c.3328_3329del (p.Asp1110ArgfsTer?) c.2929_2930del (p.Asp977ArgfsTer?) n.3649_3650del c.3310_3311del (p.Asp1104ArgfsTer?) n.3853_3854del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.180613054C>A | CA362499974 | FLT4 | c.3388G>T (p.Asp1130Tyr) n.3738G>T n.340G>T c.*2331G>T (n.*2331G>T) c.3637G>T (p.Asp1213Tyr) c.3619G>T (p.Asp1207Tyr) c.3406G>T (p.Asp1136Tyr) c.3328G>T (p.Asp1110Tyr) c.2929G>T (p.Asp977Tyr) n.3649G>T c.3310G>T (p.Asp1104Tyr) n.3853G>T | |
5 | g.180613054C>G | CA362499975 | FLT4 | c.3388G>C (p.Asp1130His) n.3738G>C n.340G>C c.*2331G>C (n.*2331G>C) c.3637G>C (p.Asp1213His) c.3619G>C (p.Asp1207His) c.3406G>C (p.Asp1136His) c.3328G>C (p.Asp1110His) c.2929G>C (p.Asp977His) n.3649G>C c.3310G>C (p.Asp1104His) n.3853G>C | |
5 | g.180613054C>T | CA362499976 | FLT4 | c.3388G>A (p.Asp1130Asn) n.3738G>A n.340G>A c.*2331G>A (n.*2331G>A) c.3637G>A (p.Asp1213Asn) c.3619G>A (p.Asp1207Asn) c.3406G>A (p.Asp1136Asn) c.3328G>A (p.Asp1110Asn) c.2929G>A (p.Asp977Asn) n.3649G>A c.3310G>A (p.Asp1104Asn) n.3853G>A | |
5 | g.180613055T>A | CA362499977 | FLT4 | c.3387A>T (p.Arg1129Ser) n.3737A>T n.339A>T c.*2330A>T (n.*2330A>T) c.3636A>T (p.Arg1212Ser) c.3618A>T (p.Arg1206Ser) c.3405A>T (p.Arg1135Ser) c.3327A>T (p.Arg1109Ser) c.2928A>T (p.Arg976Ser) n.3648A>T c.3309A>T (p.Arg1103Ser) n.3852A>T | |
5 | g.180613055T>C | CA448101837 | FLT4 | c.3387A>G (p.Arg1129=) n.3737A>G n.339A>G c.*2330A>G (n.*2330A>G) c.3636A>G (p.Arg1212=) c.3618A>G (p.Arg1206=) c.3405A>G (p.Arg1135=) c.3327A>G (p.Arg1109=) c.2928A>G (p.Arg976=) n.3648A>G c.3309A>G (p.Arg1103=) n.3852A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.180613055T>G | CA362499978 | FLT4 | c.3387A>C (p.Arg1129Ser) n.3737A>C n.339A>C c.*2330A>C (n.*2330A>C) c.3636A>C (p.Arg1212Ser) c.3618A>C (p.Arg1206Ser) c.3405A>C (p.Arg1135Ser) c.3327A>C (p.Arg1109Ser) c.2928A>C (p.Arg976Ser) n.3648A>C c.3309A>C (p.Arg1103Ser) n.3852A>C | |
5 | g.180613055T= | CA1604719152 | FLT4 | c.3387A= (p.Arg1129=) n.3737A= n.339A= c.*2330A= (n.*2330A=) c.3636A= (p.Arg1212=) c.3618A= (p.Arg1206=) c.3405A= (p.Arg1135=) c.3327A= (p.Arg1109=) c.2928A= (p.Arg976=) n.3648A= c.3309A= (p.Arg1103=) n.3852A= | |
5 | g.180613056C>A | CA362499981 | FLT4 | c.3386G>T (p.Arg1129Ile) n.3736G>T n.338G>T c.*2329G>T (n.*2329G>T) c.3635G>T (p.Arg1212Ile) c.3617G>T (p.Arg1206Ile) c.3404G>T (p.Arg1135Ile) c.3326G>T (p.Arg1109Ile) c.2927G>T (p.Arg976Ile) n.3647G>T c.3308G>T (p.Arg1103Ile) n.3851G>T | |
5 | g.180613056C>G | CA362499980 | FLT4 | c.3386G>C (p.Arg1129Thr) n.3736G>C n.338G>C c.*2329G>C (n.*2329G>C) c.3635G>C (p.Arg1212Thr) c.3617G>C (p.Arg1206Thr) c.3404G>C (p.Arg1135Thr) c.3326G>C (p.Arg1109Thr) c.2927G>C (p.Arg976Thr) n.3647G>C c.3308G>C (p.Arg1103Thr) n.3851G>C | |
5 | g.180613056C>T | CA362499979 | FLT4 | c.3386G>A (p.Arg1129Lys) n.3736G>A n.338G>A c.*2329G>A (n.*2329G>A) c.3635G>A (p.Arg1212Lys) c.3617G>A (p.Arg1206Lys) c.3404G>A (p.Arg1135Lys) c.3326G>A (p.Arg1109Lys) c.2927G>A (p.Arg976Lys) n.3647G>A c.3308G>A (p.Arg1103Lys) n.3851G>A | |
5 | g.180613057T>A | CA362499982 | FLT4 | c.3385A>T (p.Arg1129Ter) n.3735A>T n.337A>T c.*2328A>T (n.*2328A>T) c.3634A>T (p.Arg1212Ter) c.3616A>T (p.Arg1206Ter) c.3403A>T (p.Arg1135Ter) c.3325A>T (p.Arg1109Ter) c.2926A>T (p.Arg976Ter) n.3646A>T c.3307A>T (p.Arg1103Ter) n.3850A>T | |
5 | g.180613057T>C | CA362499983 | FLT4 | c.3385A>G (p.Arg1129Gly) n.3735A>G n.337A>G c.*2328A>G (n.*2328A>G) c.3634A>G (p.Arg1212Gly) c.3616A>G (p.Arg1206Gly) c.3403A>G (p.Arg1135Gly) c.3325A>G (p.Arg1109Gly) c.2926A>G (p.Arg976Gly) n.3646A>G c.3307A>G (p.Arg1103Gly) n.3850A>G | |
5 | g.180613057T>G | CA448101854 | FLT4 | c.3385A>C (p.Arg1129=) n.3735A>C n.337A>C c.*2328A>C (n.*2328A>C) c.3634A>C (p.Arg1212=) c.3616A>C (p.Arg1206=) c.3403A>C (p.Arg1135=) c.3325A>C (p.Arg1109=) c.2926A>C (p.Arg976=) n.3646A>C c.3307A>C (p.Arg1103=) n.3850A>C | |
5 | g.180613058C>A | CA448101858 | FLT4 | c.3384G>T (p.Leu1128=) n.3734G>T n.336G>T c.*2327G>T (n.*2327G>T) c.3633G>T (p.Leu1211=) c.3615G>T (p.Leu1205=) c.3402G>T (p.Leu1134=) c.3324G>T (p.Leu1108=) c.2925G>T (p.Leu975=) n.3645G>T c.3306G>T (p.Leu1102=) n.3849G>T | |
5 | g.180613058C>G | CA448101860 | FLT4 | c.3384G>C (p.Leu1128=) n.3734G>C n.336G>C c.*2327G>C (n.*2327G>C) c.3633G>C (p.Leu1211=) c.3615G>C (p.Leu1205=) c.3402G>C (p.Leu1134=) c.3324G>C (p.Leu1108=) c.2925G>C (p.Leu975=) n.3645G>C c.3306G>C (p.Leu1102=) n.3849G>C | |
5 | g.180613058C>T | CA448101864 | FLT4 | c.3384G>A (p.Leu1128=) n.3734G>A n.336G>A c.*2327G>A (n.*2327G>A) c.3633G>A (p.Leu1211=) c.3615G>A (p.Leu1205=) c.3402G>A (p.Leu1134=) c.3324G>A (p.Leu1108=) c.2925G>A (p.Leu975=) n.3645G>A c.3306G>A (p.Leu1102=) n.3849G>A | gnomAD v4 |
5 | g.180613059A>C | CA362499984 | FLT4 | c.3383T>G (p.Leu1128Arg) n.3733T>G n.335T>G c.*2326T>G (n.*2326T>G) c.3632T>G (p.Leu1211Arg) c.3614T>G (p.Leu1205Arg) c.3401T>G (p.Leu1134Arg) c.3323T>G (p.Leu1108Arg) c.2924T>G (p.Leu975Arg) n.3644T>G c.3305T>G (p.Leu1102Arg) n.3848T>G | |
5 | g.180613059A>G | CA362499985 | FLT4 | c.3383T>C (p.Leu1128Pro) n.3733T>C n.335T>C c.*2326T>C (n.*2326T>C) c.3632T>C (p.Leu1211Pro) c.3614T>C (p.Leu1205Pro) c.3401T>C (p.Leu1134Pro) c.3323T>C (p.Leu1108Pro) c.2924T>C (p.Leu975Pro) n.3644T>C c.3305T>C (p.Leu1102Pro) n.3848T>C | |
5 | g.180613059A>T | CA362499986 | FLT4 | c.3383T>A (p.Leu1128Gln) n.3733T>A n.335T>A c.*2326T>A (n.*2326T>A) c.3632T>A (p.Leu1211Gln) c.3614T>A (p.Leu1205Gln) c.3401T>A (p.Leu1134Gln) c.3323T>A (p.Leu1108Gln) c.2924T>A (p.Leu975Gln) n.3644T>A c.3305T>A (p.Leu1102Gln) n.3848T>A | |
5 | g.180613060G>A | CA448101871 | FLT4 | c.3382C>T (p.Leu1128=) n.3732C>T n.334C>T c.*2325C>T (n.*2325C>T) c.3631C>T (p.Leu1211=) c.3613C>T (p.Leu1205=) c.3400C>T (p.Leu1134=) c.3322C>T (p.Leu1108=) c.2923C>T (p.Leu975=) n.3643C>T c.3304C>T (p.Leu1102=) n.3847C>T | gnomAD v4 |
5 | g.180613060G>C | CA362499987 | FLT4 | c.3382C>G (p.Leu1128Val) n.3732C>G n.334C>G c.*2325C>G (n.*2325C>G) c.3631C>G (p.Leu1211Val) c.3613C>G (p.Leu1205Val) c.3400C>G (p.Leu1134Val) c.3322C>G (p.Leu1108Val) c.2923C>G (p.Leu975Val) n.3643C>G c.3304C>G (p.Leu1102Val) n.3847C>G | |
5 | g.180613060G>T | CA362499988 | FLT4 | c.3382C>A (p.Leu1128Met) n.3732C>A n.334C>A c.*2325C>A (n.*2325C>A) c.3631C>A (p.Leu1211Met) c.3613C>A (p.Leu1205Met) c.3400C>A (p.Leu1134Met) c.3322C>A (p.Leu1108Met) c.2923C>A (p.Leu975Met) n.3643C>A c.3304C>A (p.Leu1102Met) n.3847C>A | |
5 | g.180613061C>A | CA448101877 | FLT4 | c.3381G>T (p.Arg1127=) n.3731G>T n.333G>T c.*2324G>T (n.*2324G>T) c.3630G>T (p.Arg1210=) c.3612G>T (p.Arg1204=) c.3399G>T (p.Arg1133=) c.3321G>T (p.Arg1107=) c.2922G>T (p.Arg974=) n.3642G>T c.3303G>T (p.Arg1101=) n.3846G>T | gnomAD v4 |
5 | g.180613061C>G | CA448101878 | FLT4 | c.3381G>C (p.Arg1127=) n.3731G>C n.333G>C c.*2324G>C (n.*2324G>C) c.3630G>C (p.Arg1210=) c.3612G>C (p.Arg1204=) c.3399G>C (p.Arg1133=) c.3321G>C (p.Arg1107=) c.2922G>C (p.Arg974=) n.3642G>C c.3303G>C (p.Arg1101=) n.3846G>C | |
5 | g.180613061C>T | CA448101881 | FLT4 | c.3381G>A (p.Arg1127=) n.3731G>A n.333G>A c.*2324G>A (n.*2324G>A) c.3630G>A (p.Arg1210=) c.3612G>A (p.Arg1204=) c.3399G>A (p.Arg1133=) c.3321G>A (p.Arg1107=) c.2922G>A (p.Arg974=) n.3642G>A c.3303G>A (p.Arg1101=) n.3846G>A | dbSNP |
5 | g.180613062C>A | CA362499989 | FLT4 | c.3380G>T (p.Arg1127Leu) n.3730G>T n.332G>T c.*2323G>T (n.*2323G>T) c.3629G>T (p.Arg1210Leu) c.3611G>T (p.Arg1204Leu) c.3398G>T (p.Arg1133Leu) c.3320G>T (p.Arg1107Leu) c.2921G>T (p.Arg974Leu) n.3641G>T c.3302G>T (p.Arg1101Leu) n.3845G>T | |
5 | g.180613062C= | CA1604719153 | FLT4 | c.3380G= (p.Arg1127=) n.3730G= n.332G= c.*2323G= (n.*2323G=) c.3629G= (p.Arg1210=) c.3611G= (p.Arg1204=) c.3398G= (p.Arg1133=) c.3320G= (p.Arg1107=) c.2921G= (p.Arg974=) n.3641G= c.3302G= (p.Arg1101=) n.3845G= | |
5 | g.180613062C>G | CA362499990 | FLT4 | c.3380G>C (p.Arg1127Pro) n.3730G>C n.332G>C c.*2323G>C (n.*2323G>C) c.3629G>C (p.Arg1210Pro) c.3611G>C (p.Arg1204Pro) c.3398G>C (p.Arg1133Pro) c.3320G>C (p.Arg1107Pro) c.2921G>C (p.Arg974Pro) n.3641G>C c.3302G>C (p.Arg1101Pro) n.3845G>C | |
5 | g.180613062C>T | CA3605858 | FLT4 | c.3380G>A (p.Arg1127Gln) n.3730G>A n.332G>A c.*2323G>A (n.*2323G>A) c.3629G>A (p.Arg1210Gln) c.3611G>A (p.Arg1204Gln) c.3398G>A (p.Arg1133Gln) c.3320G>A (p.Arg1107Gln) c.2921G>A (p.Arg974Gln) n.3641G>A c.3302G>A (p.Arg1101Gln) n.3845G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.180613063G>A | CA362499991 | FLT4 | c.3379C>T (p.Arg1127Trp) n.3729C>T n.331C>T c.*2322C>T (n.*2322C>T) c.3628C>T (p.Arg1210Trp) c.3610C>T (p.Arg1204Trp) c.3397C>T (p.Arg1133Trp) c.3319C>T (p.Arg1107Trp) c.2920C>T (p.Arg974Trp) n.3640C>T c.3301C>T (p.Arg1101Trp) n.3844C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.180613063G>C | CA362499992 | FLT4 | c.3379C>G (p.Arg1127Gly) n.3729C>G n.331C>G c.*2322C>G (n.*2322C>G) c.3628C>G (p.Arg1210Gly) c.3610C>G (p.Arg1204Gly) c.3397C>G (p.Arg1133Gly) c.3319C>G (p.Arg1107Gly) c.2920C>G (p.Arg974Gly) n.3640C>G c.3301C>G (p.Arg1101Gly) n.3844C>G | |
5 | g.180613063G= | CA1604719154 | FLT4 | c.3379C= (p.Arg1127=) n.3729C= n.331C= c.*2322C= (n.*2322C=) c.3628C= (p.Arg1210=) c.3610C= (p.Arg1204=) c.3397C= (p.Arg1133=) c.3319C= (p.Arg1107=) c.2920C= (p.Arg974=) n.3640C= c.3301C= (p.Arg1101=) n.3844C= | |
5 | g.180613063G>T | CA3605859 | FLT4 | c.3379C>A (p.Arg1127=) n.3729C>A n.331C>A c.*2322C>A (n.*2322C>A) c.3628C>A (p.Arg1210=) c.3610C>A (p.Arg1204=) c.3397C>A (p.Arg1133=) c.3319C>A (p.Arg1107=) c.2920C>A (p.Arg974=) n.3640C>A c.3301C>A (p.Arg1101=) n.3844C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.180613064C>A | CA362499993 | FLT4 | c.3378G>T (p.Gln1126His) n.3728G>T n.330G>T c.*2321G>T (n.*2321G>T) c.3627G>T (p.Gln1209His) c.3609G>T (p.Gln1203His) c.3396G>T (p.Gln1132His) c.3318G>T (p.Gln1106His) c.2919G>T (p.Gln973His) n.3639G>T c.3300G>T (p.Gln1100His) n.3843G>T | |
5 | g.180613064C>G | CA362499994 | FLT4 | c.3378G>C (p.Gln1126His) n.3728G>C n.330G>C c.*2321G>C (n.*2321G>C) c.3627G>C (p.Gln1209His) c.3609G>C (p.Gln1203His) c.3396G>C (p.Gln1132His) c.3318G>C (p.Gln1106His) c.2919G>C (p.Gln973His) n.3639G>C c.3300G>C (p.Gln1100His) n.3843G>C | |
5 | g.180613064C>T | CA448101897 | FLT4 | c.3378G>A (p.Gln1126=) n.3728G>A n.330G>A c.*2321G>A (n.*2321G>A) c.3627G>A (p.Gln1209=) c.3609G>A (p.Gln1203=) c.3396G>A (p.Gln1132=) c.3318G>A (p.Gln1106=) c.2919G>A (p.Gln973=) n.3639G>A c.3300G>A (p.Gln1100=) n.3843G>A |