UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89315329_89315334del | CA2573151239 | FANCI,POLG | c.3585_3590del (p.Ile1196_Lys1197del) c.3327_3332del (p.Ile1110_Lys1111del) c.3864_3869del (p.Ile1289_Lys1290del) n.5449_5454del c.73+1376_73+1381del c.3996_4001del (p.Ile1333_Lys1334del) n.3069_3074del c.3822_3827del (p.Ile1275_Lys1276del) n.3445_3450del c.3684_3689del (p.Ile1229_Lys1230del) c.*208_*213del (n.*208_*213del) c.3160_3165del n.447_452del n.3871_3876del c.3519_3524del (p.Ile1174_Lys1175del) | ClinVar dbSNP |
| 15 | g.89315328A= | CA2194534452 | FANCI,POLG | c.3584A= (p.Lys1195=) c.3326A= (p.Lys1109=) c.3863A= (p.Lys1288=) n.5448A= c.73+1378T= c.3995A= (p.Lys1332=) n.3068A= c.3821A= (p.Lys1274=) n.3444A= c.3683A= (p.Lys1228=) c.*207A= (n.*207A=) c.3159A= n.446A= n.3870A= c.3518A= (p.Lys1173=) | |
| 15 | g.89315328A>C | CA393744734 | FANCI,POLG | c.3584A>C (p.Lys1195Thr) c.3326A>C (p.Lys1109Thr) c.3863A>C (p.Lys1288Thr) n.5448A>C c.73+1378T>G c.3995A>C (p.Lys1332Thr) n.3068A>C c.3821A>C (p.Lys1274Thr) n.3444A>C c.3683A>C (p.Lys1228Thr) c.*207A>C (n.*207A>C) c.3159A>C n.446A>C n.3870A>C c.3518A>C (p.Lys1173Thr) | |
| 15 | g.89315328A>G | CA393744735 | FANCI,POLG | c.3584A>G (p.Lys1195Arg) c.3326A>G (p.Lys1109Arg) c.3863A>G (p.Lys1288Arg) n.5448A>G c.73+1378T>C c.3995A>G (p.Lys1332Arg) n.3068A>G c.3821A>G (p.Lys1274Arg) n.3444A>G c.3683A>G (p.Lys1228Arg) c.*207A>G (n.*207A>G) c.3159A>G n.446A>G n.3870A>G c.3518A>G (p.Lys1173Arg) | dbSNP gnomAD v4 |
| 15 | g.89315328A>T | CA393744737 | FANCI,POLG | c.3584A>T (p.Lys1195Met) c.3326A>T (p.Lys1109Met) c.3863A>T (p.Lys1288Met) n.5448A>T c.73+1378T>A c.3995A>T (p.Lys1332Met) n.3068A>T c.3821A>T (p.Lys1274Met) n.3444A>T c.3683A>T (p.Lys1228Met) c.*207A>T (n.*207A>T) c.3159A>T n.446A>T n.3870A>T c.3518A>T (p.Lys1173Met) | |
| 15 | g.89315329G>A | CA492067812 | FANCI,POLG | c.3585G>A (p.Lys1195=) c.3327G>A (p.Lys1109=) c.3864G>A (p.Lys1288=) n.5449G>A c.73+1377C>T c.3996G>A (p.Lys1332=) n.3069G>A c.3822G>A (p.Lys1274=) n.3445G>A c.3684G>A (p.Lys1228=) c.*208G>A (n.*208G>A) c.3160G>A n.447G>A n.3871G>A c.3519G>A (p.Lys1173=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89315329G>C | CA393744740 | FANCI,POLG | c.3585G>C (p.Lys1195Asn) c.3327G>C (p.Lys1109Asn) c.3864G>C (p.Lys1288Asn) n.5449G>C c.73+1377C>G c.3996G>C (p.Lys1332Asn) n.3069G>C c.3822G>C (p.Lys1274Asn) n.3445G>C c.3684G>C (p.Lys1228Asn) c.*208G>C (n.*208G>C) c.3160G>C n.447G>C n.3871G>C c.3519G>C (p.Lys1173Asn) | |
| 15 | g.89315329G>T | CA393744742 | FANCI,POLG | c.3585G>T (p.Lys1195Asn) c.3327G>T (p.Lys1109Asn) c.3864G>T (p.Lys1288Asn) n.5449G>T c.73+1377C>A c.3996G>T (p.Lys1332Asn) n.3069G>T c.3822G>T (p.Lys1274Asn) n.3445G>T c.3684G>T (p.Lys1228Asn) c.*208G>T (n.*208G>T) c.3160G>T n.447G>T n.3871G>T c.3519G>T (p.Lys1173Asn) | |
| 15 | g.89315330A= | CA2194534458 | FANCI,POLG | c.3586A= (p.Ile1196=) c.3328A= (p.Ile1110=) c.3865A= (p.Ile1289=) n.5450A= c.73+1376T= c.3997A= (p.Ile1333=) n.3070A= c.3823A= (p.Ile1275=) n.3446A= c.3685A= (p.Ile1229=) c.*209A= (n.*209A=) c.3161A= n.448A= n.3872A= c.3520A= (p.Ile1174=) | |
| 15 | g.89315330A>C | CA393744749 | FANCI,POLG | c.3586A>C (p.Ile1196Leu) c.3328A>C (p.Ile1110Leu) c.3865A>C (p.Ile1289Leu) n.5450A>C c.73+1376T>G c.3997A>C (p.Ile1333Leu) n.3070A>C c.3823A>C (p.Ile1275Leu) n.3446A>C c.3685A>C (p.Ile1229Leu) c.*209A>C (n.*209A>C) c.3161A>C n.448A>C n.3872A>C c.3520A>C (p.Ile1174Leu) | |
| 15 | g.89315330A>G | CA7723936 | FANCI,POLG | c.3586A>G (p.Ile1196Val) c.3328A>G (p.Ile1110Val) c.3865A>G (p.Ile1289Val) n.5450A>G c.73+1376T>C c.3997A>G (p.Ile1333Val) n.3070A>G c.3823A>G (p.Ile1275Val) n.3446A>G c.3685A>G (p.Ile1229Val) c.*209A>G (n.*209A>G) c.3161A>G n.448A>G n.3872A>G c.3520A>G (p.Ile1174Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89315330A>T | CA393744745 | FANCI,POLG | c.3586A>T (p.Ile1196Phe) c.3328A>T (p.Ile1110Phe) c.3865A>T (p.Ile1289Phe) n.5450A>T c.73+1376T>A c.3997A>T (p.Ile1333Phe) n.3070A>T c.3823A>T (p.Ile1275Phe) n.3446A>T c.3685A>T (p.Ile1229Phe) c.*209A>T (n.*209A>T) c.3161A>T n.448A>T n.3872A>T c.3520A>T (p.Ile1174Phe) | |
| 15 | g.89315331T>A | CA393744757 | FANCI,POLG | c.3587T>A (p.Ile1196Asn) c.3329T>A (p.Ile1110Asn) c.3866T>A (p.Ile1289Asn) n.5451T>A c.73+1375A>T c.3998T>A (p.Ile1333Asn) n.3071T>A c.3824T>A (p.Ile1275Asn) n.3447T>A c.3686T>A (p.Ile1229Asn) c.*210T>A (n.*210T>A) c.3162T>A n.449T>A n.3873T>A c.3521T>A (p.Ile1174Asn) | |
| 15 | g.89315331T>C | CA393744753 | FANCI,POLG | c.3587T>C (p.Ile1196Thr) c.3329T>C (p.Ile1110Thr) c.3866T>C (p.Ile1289Thr) n.5451T>C c.73+1375A>G c.3998T>C (p.Ile1333Thr) n.3071T>C c.3824T>C (p.Ile1275Thr) n.3447T>C c.3686T>C (p.Ile1229Thr) c.*210T>C (n.*210T>C) c.3162T>C n.449T>C n.3873T>C c.3521T>C (p.Ile1174Thr) | |
| 15 | g.89315331T>G | CA393744755 | FANCI,POLG | c.3587T>G (p.Ile1196Ser) c.3329T>G (p.Ile1110Ser) c.3866T>G (p.Ile1289Ser) n.5451T>G c.73+1375A>C c.3998T>G (p.Ile1333Ser) n.3071T>G c.3824T>G (p.Ile1275Ser) n.3447T>G c.3686T>G (p.Ile1229Ser) c.*210T>G (n.*210T>G) c.3162T>G n.449T>G n.3873T>G c.3521T>G (p.Ile1174Ser) | |
| 15 | g.89315332C>A | CA492067827 | FANCI,POLG | c.3588C>A (p.Ile1196=) c.3330C>A (p.Ile1110=) c.3867C>A (p.Ile1289=) n.5452C>A c.73+1374G>T c.3999C>A (p.Ile1333=) n.3072C>A c.3825C>A (p.Ile1275=) n.3448C>A c.3687C>A (p.Ile1229=) c.*211C>A (n.*211C>A) c.3163C>A n.450C>A n.3874C>A c.3522C>A (p.Ile1174=) | |
| 15 | g.89315332C>G | CA393744760 | FANCI,POLG | c.3588C>G (p.Ile1196Met) c.3330C>G (p.Ile1110Met) c.3867C>G (p.Ile1289Met) n.5452C>G c.73+1374G>C c.3999C>G (p.Ile1333Met) n.3072C>G c.3825C>G (p.Ile1275Met) n.3448C>G c.3687C>G (p.Ile1229Met) c.*211C>G (n.*211C>G) c.3163C>G n.450C>G n.3874C>G c.3522C>G (p.Ile1174Met) | |
| 15 | g.89315332C>T | CA492067831 | FANCI,POLG | c.3588C>T (p.Ile1196=) c.3330C>T (p.Ile1110=) c.3867C>T (p.Ile1289=) n.5452C>T c.73+1374G>A c.3999C>T (p.Ile1333=) n.3072C>T c.3825C>T (p.Ile1275=) n.3448C>T c.3687C>T (p.Ile1229=) c.*211C>T (n.*211C>T) c.3163C>T n.450C>T n.3874C>T c.3522C>T (p.Ile1174=) | |
| 15 | g.89315333A= | CA2194534466 | FANCI,POLG | c.3589A= (p.Lys1197=) c.3331A= (p.Lys1111=) c.3868A= (p.Lys1290=) n.5453A= c.73+1373T= c.4000A= (p.Lys1334=) n.3073A= c.3826A= (p.Lys1276=) n.3449A= c.3688A= (p.Lys1230=) c.*212A= (n.*212A=) c.3164A= n.451A= n.3875A= c.3523A= (p.Lys1175=) | |
| 15 | g.89315333A>C | CA393744763 | FANCI,POLG | c.3589A>C (p.Lys1197Gln) c.3331A>C (p.Lys1111Gln) c.3868A>C (p.Lys1290Gln) n.5453A>C c.73+1373T>G c.4000A>C (p.Lys1334Gln) n.3073A>C c.3826A>C (p.Lys1276Gln) n.3449A>C c.3688A>C (p.Lys1230Gln) c.*212A>C (n.*212A>C) c.3164A>C n.451A>C n.3875A>C c.3523A>C (p.Lys1175Gln) | |
| 15 | g.89315333A>G | CA7723937 | FANCI,POLG | c.3589A>G (p.Lys1197Glu) c.3331A>G (p.Lys1111Glu) c.3868A>G (p.Lys1290Glu) n.5453A>G c.73+1373T>C c.4000A>G (p.Lys1334Glu) n.3073A>G c.3826A>G (p.Lys1276Glu) n.3449A>G c.3688A>G (p.Lys1230Glu) c.*212A>G (n.*212A>G) c.3164A>G n.451A>G n.3875A>G c.3523A>G (p.Lys1175Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89315333A>T | CA393744766 | FANCI,POLG | c.3589A>T (p.Lys1197Ter) c.3331A>T (p.Lys1111Ter) c.3868A>T (p.Lys1290Ter) n.5453A>T c.73+1373T>A c.4000A>T (p.Lys1334Ter) n.3073A>T c.3826A>T (p.Lys1276Ter) n.3449A>T c.3688A>T (p.Lys1230Ter) c.*212A>T (n.*212A>T) c.3164A>T n.451A>T n.3875A>T c.3523A>T (p.Lys1175Ter) | |
| 15 | g.89315334A>C | CA393744774 | FANCI,POLG | c.3590A>C (p.Lys1197Thr) c.3332A>C (p.Lys1111Thr) c.3869A>C (p.Lys1290Thr) n.5454A>C c.73+1372T>G c.4001A>C (p.Lys1334Thr) n.3074A>C c.3827A>C (p.Lys1276Thr) n.3450A>C c.3689A>C (p.Lys1230Thr) c.*213A>C (n.*213A>C) c.3165A>C n.452A>C n.3876A>C c.3524A>C (p.Lys1175Thr) | |
| 15 | g.89315334A>G | CA393744769 | FANCI,POLG | c.3590A>G (p.Lys1197Arg) c.3332A>G (p.Lys1111Arg) c.3869A>G (p.Lys1290Arg) n.5454A>G c.73+1372T>C c.4001A>G (p.Lys1334Arg) n.3074A>G c.3827A>G (p.Lys1276Arg) n.3450A>G c.3689A>G (p.Lys1230Arg) c.*213A>G (n.*213A>G) c.3165A>G n.452A>G n.3876A>G c.3524A>G (p.Lys1175Arg) | |
| 15 | g.89315334A>T | CA393744772 | FANCI,POLG | c.3590A>T (p.Lys1197Ile) c.3332A>T (p.Lys1111Ile) c.3869A>T (p.Lys1290Ile) n.5454A>T c.73+1372T>A c.4001A>T (p.Lys1334Ile) n.3074A>T c.3827A>T (p.Lys1276Ile) n.3450A>T c.3689A>T (p.Lys1230Ile) c.*213A>T (n.*213A>T) c.3165A>T n.452A>T n.3876A>T c.3524A>T (p.Lys1175Ile) | |
| 15 | g.89315335A>C | CA393744777 | FANCI,POLG | c.3591A>C (p.Lys1197Asn) c.3333A>C (p.Lys1111Asn) c.3870A>C (p.Lys1290Asn) n.5455A>C c.73+1371T>G c.4002A>C (p.Lys1334Asn) n.3075A>C c.3828A>C (p.Lys1276Asn) n.3451A>C c.3690A>C (p.Lys1230Asn) c.*214A>C (n.*214A>C) c.3166A>C n.453A>C n.3877A>C c.3525A>C (p.Lys1175Asn) | |
| 15 | g.89315335A>G | CA492067849 | FANCI,POLG | c.3591A>G (p.Lys1197=) c.3333A>G (p.Lys1111=) c.3870A>G (p.Lys1290=) n.5455A>G c.73+1371T>C c.4002A>G (p.Lys1334=) n.3075A>G c.3828A>G (p.Lys1276=) n.3451A>G c.3690A>G (p.Lys1230=) c.*214A>G (n.*214A>G) c.3166A>G n.453A>G n.3877A>G c.3525A>G (p.Lys1175=) | gnomAD v4 |
| 15 | g.89315335A>T | CA393744779 | FANCI,POLG | c.3591A>T (p.Lys1197Asn) c.3333A>T (p.Lys1111Asn) c.3870A>T (p.Lys1290Asn) n.5455A>T c.73+1371T>A c.4002A>T (p.Lys1334Asn) n.3075A>T c.3828A>T (p.Lys1276Asn) n.3451A>T c.3690A>T (p.Lys1230Asn) c.*214A>T (n.*214A>T) c.3166A>T n.453A>T n.3877A>T c.3525A>T (p.Lys1175Asn) | |
| 15 | g.89315336G>A | CA393744783 | FANCI,POLG | c.3592G>A (p.Gly1198Arg) c.3334G>A (p.Gly1112Arg) c.3871G>A (p.Gly1291Arg) n.5456G>A c.73+1370C>T c.4003G>A (p.Gly1335Arg) n.3076G>A c.3829G>A (p.Gly1277Arg) n.3452G>A c.3691G>A (p.Gly1231Arg) c.*215G>A (n.*215G>A) c.3167G>A n.454G>A n.3878G>A c.3526G>A (p.Gly1176Arg) | gnomAD v4 |
| 15 | g.89315336G>C | CA393744785 | FANCI,POLG | c.3592G>C (p.Gly1198Arg) c.3334G>C (p.Gly1112Arg) c.3871G>C (p.Gly1291Arg) n.5456G>C c.73+1370C>G c.4003G>C (p.Gly1335Arg) n.3076G>C c.3829G>C (p.Gly1277Arg) n.3452G>C c.3691G>C (p.Gly1231Arg) c.*215G>C (n.*215G>C) c.3167G>C n.454G>C n.3878G>C c.3526G>C (p.Gly1176Arg) | |
| 15 | g.89315336G>T | CA393744787 | FANCI,POLG | c.3592G>T (p.Gly1198Ter) c.3334G>T (p.Gly1112Ter) c.3871G>T (p.Gly1291Ter) n.5456G>T c.73+1370C>A c.4003G>T (p.Gly1335Ter) n.3076G>T c.3829G>T (p.Gly1277Ter) n.3452G>T c.3691G>T (p.Gly1231Ter) c.*215G>T (n.*215G>T) c.3167G>T n.454G>T n.3878G>T c.3526G>T (p.Gly1176Ter) | |
| 15 | g.89315337G>A | CA393744791 | FANCI,POLG | c.3593G>A (p.Gly1198Glu) c.3335G>A (p.Gly1112Glu) c.3872G>A (p.Gly1291Glu) n.5457G>A c.73+1369C>T c.4004G>A (p.Gly1335Glu) n.3077G>A c.3830G>A (p.Gly1277Glu) n.3453G>A c.3692G>A (p.Gly1231Glu) c.*216G>A (n.*216G>A) c.3168G>A n.455G>A n.3879G>A c.3527G>A (p.Gly1176Glu) | |
| 15 | g.89315337G>C | CA393744796 | FANCI,POLG | c.3593G>C (p.Gly1198Ala) c.3335G>C (p.Gly1112Ala) c.3872G>C (p.Gly1291Ala) n.5457G>C c.73+1369C>G c.4004G>C (p.Gly1335Ala) n.3077G>C c.3830G>C (p.Gly1277Ala) n.3453G>C c.3692G>C (p.Gly1231Ala) c.*216G>C (n.*216G>C) c.3168G>C n.455G>C n.3879G>C c.3527G>C (p.Gly1176Ala) | ClinVar |
| 15 | g.89315337G>T | CA393744793 | FANCI,POLG | c.3593G>T (p.Gly1198Val) c.3335G>T (p.Gly1112Val) c.3872G>T (p.Gly1291Val) n.5457G>T c.73+1369C>A c.4004G>T (p.Gly1335Val) n.3077G>T c.3830G>T (p.Gly1277Val) n.3453G>T c.3692G>T (p.Gly1231Val) c.*216G>T (n.*216G>T) c.3168G>T n.455G>T n.3879G>T c.3527G>T (p.Gly1176Val) | gnomAD v4 |
| 15 | g.89315338A>C | CA492067870 | FANCI,POLG | c.3594A>C (p.Gly1198=) c.3336A>C (p.Gly1112=) c.3873A>C (p.Gly1291=) n.5458A>C c.73+1368T>G c.4005A>C (p.Gly1335=) n.3078A>C c.3831A>C (p.Gly1277=) n.3454A>C c.3693A>C (p.Gly1231=) c.*217A>C (n.*217A>C) c.3169A>C n.456A>C n.3880A>C c.3528A>C (p.Gly1176=) | |
| 15 | g.89315338A>G | CA492067872 | FANCI,POLG | c.3594A>G (p.Gly1198=) c.3336A>G (p.Gly1112=) c.3873A>G (p.Gly1291=) n.5458A>G c.73+1368T>C c.4005A>G (p.Gly1335=) n.3078A>G c.3831A>G (p.Gly1277=) n.3454A>G c.3693A>G (p.Gly1231=) c.*217A>G (n.*217A>G) c.3169A>G n.456A>G n.3880A>G c.3528A>G (p.Gly1176=) | gnomAD v3 gnomAD v4 |
| 15 | g.89315338A>T | CA492067874 | FANCI,POLG | c.3594A>T (p.Gly1198=) c.3336A>T (p.Gly1112=) c.3873A>T (p.Gly1291=) n.5458A>T c.73+1368T>A c.4005A>T (p.Gly1335=) n.3078A>T c.3831A>T (p.Gly1277=) n.3454A>T c.3693A>T (p.Gly1231=) c.*217A>T (n.*217A>T) c.3169A>T n.456A>T n.3880A>T c.3528A>T (p.Gly1176=) | |
| 15 | g.89315339A>C | CA393744798 | FANCI,POLG | c.3595A>C (p.Asn1199His) c.3337A>C (p.Asn1113His) c.3874A>C (p.Asn1292His) n.5459A>C c.73+1367T>G c.4006A>C (p.Asn1336His) n.3079A>C c.3832A>C (p.Asn1278His) n.3455A>C c.3694A>C (p.Asn1232His) c.*218A>C (n.*218A>C) c.3170A>C n.457A>C n.3881A>C c.3529A>C (p.Asn1177His) | |
| 15 | g.89315339A>G | CA393744799 | FANCI,POLG | c.3595A>G (p.Asn1199Asp) c.3337A>G (p.Asn1113Asp) c.3874A>G (p.Asn1292Asp) n.5459A>G c.73+1367T>C c.4006A>G (p.Asn1336Asp) n.3079A>G c.3832A>G (p.Asn1278Asp) n.3455A>G c.3694A>G (p.Asn1232Asp) c.*218A>G (n.*218A>G) c.3170A>G n.457A>G n.3881A>G c.3529A>G (p.Asn1177Asp) | |
| 15 | g.89315339A>T | CA393744801 | FANCI,POLG | c.3595A>T (p.Asn1199Tyr) c.3337A>T (p.Asn1113Tyr) c.3874A>T (p.Asn1292Tyr) n.5459A>T c.73+1367T>A c.4006A>T (p.Asn1336Tyr) n.3079A>T c.3832A>T (p.Asn1278Tyr) n.3455A>T c.3694A>T (p.Asn1232Tyr) c.*218A>T (n.*218A>T) c.3170A>T n.457A>T n.3881A>T c.3529A>T (p.Asn1177Tyr) | |
| 15 | g.89315340A= | CA2194534474 | FANCI,POLG | c.3596A= (p.Asn1199=) c.3338A= (p.Asn1113=) c.3875A= (p.Asn1292=) n.5460A= c.73+1366T= c.4007A= (p.Asn1336=) n.3080A= c.3833A= (p.Asn1278=) n.3456A= c.3695A= (p.Asn1232=) c.*219A= (n.*219A=) c.3171A= n.458A= n.3882A= c.3530A= (p.Asn1177=) | |
| 15 | g.89315340A>C | CA393744804 | FANCI,POLG | c.3596A>C (p.Asn1199Thr) c.3338A>C (p.Asn1113Thr) c.3875A>C (p.Asn1292Thr) n.5460A>C c.73+1366T>G c.4007A>C (p.Asn1336Thr) n.3080A>C c.3833A>C (p.Asn1278Thr) n.3456A>C c.3695A>C (p.Asn1232Thr) c.*219A>C (n.*219A>C) c.3171A>C n.458A>C n.3882A>C c.3530A>C (p.Asn1177Thr) | |
| 15 | g.89315340A>G | CA393744806 | FANCI,POLG | c.3596A>G (p.Asn1199Ser) c.3338A>G (p.Asn1113Ser) c.3875A>G (p.Asn1292Ser) n.5460A>G c.73+1366T>C c.4007A>G (p.Asn1336Ser) n.3080A>G c.3833A>G (p.Asn1278Ser) n.3456A>G c.3695A>G (p.Asn1232Ser) c.*219A>G (n.*219A>G) c.3171A>G n.458A>G n.3882A>G c.3530A>G (p.Asn1177Ser) | ClinVar dbSNP |
| 15 | g.89315340A>T | CA393744807 | FANCI,POLG | c.3596A>T (p.Asn1199Ile) c.3338A>T (p.Asn1113Ile) c.3875A>T (p.Asn1292Ile) n.5460A>T c.73+1366T>A c.4007A>T (p.Asn1336Ile) n.3080A>T c.3833A>T (p.Asn1278Ile) n.3456A>T c.3695A>T (p.Asn1232Ile) c.*219A>T (n.*219A>T) c.3171A>T n.458A>T n.3882A>T c.3530A>T (p.Asn1177Ile) | gnomAD v4 |
| 15 | g.89315341C>A | CA393744811 | FANCI,POLG | c.3597C>A (p.Asn1199Lys) c.3339C>A (p.Asn1113Lys) c.3876C>A (p.Asn1292Lys) n.5461C>A c.73+1365G>T c.4008C>A (p.Asn1336Lys) n.3081C>A c.3834C>A (p.Asn1278Lys) n.3457C>A c.3696C>A (p.Asn1232Lys) c.*220C>A (n.*220C>A) c.3172C>A n.459C>A n.3883C>A c.3531C>A (p.Asn1177Lys) | |
| 15 | g.89315341C>G | CA393744813 | FANCI,POLG | c.3597C>G (p.Asn1199Lys) c.3339C>G (p.Asn1113Lys) c.3876C>G (p.Asn1292Lys) n.5461C>G c.73+1365G>C c.4008C>G (p.Asn1336Lys) n.3081C>G c.3834C>G (p.Asn1278Lys) n.3457C>G c.3696C>G (p.Asn1232Lys) c.*220C>G (n.*220C>G) c.3172C>G n.459C>G n.3883C>G c.3531C>G (p.Asn1177Lys) | |
| 15 | g.89315341C>T | CA492067889 | FANCI,POLG | c.3597C>T (p.Asn1199=) c.3339C>T (p.Asn1113=) c.3876C>T (p.Asn1292=) n.5461C>T c.73+1365G>A c.4008C>T (p.Asn1336=) n.3081C>T c.3834C>T (p.Asn1278=) n.3457C>T c.3696C>T (p.Asn1232=) c.*220C>T (n.*220C>T) c.3172C>T n.459C>T n.3883C>T c.3531C>T (p.Asn1177=) | gnomAD v4 |
| 15 | g.89315342A= | CA2194534477 | FANCI,POLG | c.3598A= (p.Ile1200=) c.3340A= (p.Ile1114=) c.3877A= (p.Ile1293=) n.5462A= c.73+1364T= c.4009A= (p.Ile1337=) n.3082A= c.3835A= (p.Ile1279=) n.3458A= c.3697A= (p.Ile1233=) c.*221A= (n.*221A=) c.3173A= n.460A= n.3884A= c.3532A= (p.Ile1178=) | |
| 15 | g.89315342A>C | CA393744816 | FANCI,POLG | c.3598A>C (p.Ile1200Leu) c.3340A>C (p.Ile1114Leu) c.3877A>C (p.Ile1293Leu) n.5462A>C c.73+1364T>G c.4009A>C (p.Ile1337Leu) n.3082A>C c.3835A>C (p.Ile1279Leu) n.3458A>C c.3697A>C (p.Ile1233Leu) c.*221A>C (n.*221A>C) c.3173A>C n.460A>C n.3884A>C c.3532A>C (p.Ile1178Leu) | |
| 15 | g.89315342A>G | CA7723938 | FANCI,POLG | c.3598A>G (p.Ile1200Val) c.3340A>G (p.Ile1114Val) c.3877A>G (p.Ile1293Val) n.5462A>G c.73+1364T>C c.4009A>G (p.Ile1337Val) n.3082A>G c.3835A>G (p.Ile1279Val) n.3458A>G c.3697A>G (p.Ile1233Val) c.*221A>G (n.*221A>G) c.3173A>G n.460A>G n.3884A>G c.3532A>G (p.Ile1178Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |