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 |
|---|---|---|---|---|---|
| 11 | g.66850300_66850316del | CA2573147599 | PC | c.2625_2641del (p.Phe876GlyfsTer?) n.290-248_290-232del c.*634_*650del (n.*634_*650del) c.*1101_*1117del (n.*1101_*1117del) c.-16_1del (n.-16_1del) c.1104_1120del (p.Phe369GlyfsTer?) c.1329_1345del (p.Phe444GlyfsTer?) c.1260_1276del (p.Phe421GlyfsTer?) | dbSNP |
| 11 | g.66850298G>A | CA6131024 | PC | c.2640C>T (p.Ser880=) n.290-233C>T c.*649C>T (n.*649C>T) c.*1116C>T (n.*1116C>T) c.-1C>T (n.-1C>T) c.1119C>T (p.Ser373=) c.1344C>T (p.Ser448=) c.1275C>T (p.Ser425=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850298G>C | CA381492502 | PC | c.2640C>G (p.Ser880Arg) n.290-233C>G c.*649C>G (n.*649C>G) c.*1116C>G (n.*1116C>G) c.-1C>G (n.-1C>G) c.1119C>G (p.Ser373Arg) c.1344C>G (p.Ser448Arg) c.1275C>G (p.Ser425Arg) | |
| 11 | g.66850298G= | CA1979879393 | PC | c.2640C= (p.Ser880=) n.290-233C= c.*649C= (n.*649C=) c.*1116C= (n.*1116C=) c.-1C= (n.-1C=) c.1119C= (p.Ser373=) c.1344C= (p.Ser448=) c.1275C= (p.Ser425=) | |
| 11 | g.66850298G>T | CA381492503 | PC | c.2640C>A (p.Ser880Arg) n.290-233C>A c.*649C>A (n.*649C>A) c.*1116C>A (n.*1116C>A) c.-1C>A (n.-1C>A) c.1119C>A (p.Ser373Arg) c.1344C>A (p.Ser448Arg) c.1275C>A (p.Ser425Arg) | |
| 11 | g.66850299C>A | CA381492504 | PC | c.2639G>T (p.Ser880Ile) n.290-234G>T c.*648G>T (n.*648G>T) c.*1115G>T (n.*1115G>T) c.-2G>T (n.-2G>T) c.1118G>T (p.Ser373Ile) c.1343G>T (p.Ser448Ile) c.1274G>T (p.Ser425Ile) | |
| 11 | g.66850299C>G | CA381492506 | PC | c.2639G>C (p.Ser880Thr) n.290-234G>C c.*648G>C (n.*648G>C) c.*1115G>C (n.*1115G>C) c.-2G>C (n.-2G>C) c.1118G>C (p.Ser373Thr) c.1343G>C (p.Ser448Thr) c.1274G>C (p.Ser425Thr) | gnomAD v4 |
| 11 | g.66850299C>T | CA381492505 | PC | c.2639G>A (p.Ser880Asn) n.290-234G>A c.*648G>A (n.*648G>A) c.*1115G>A (n.*1115G>A) c.-2G>A (n.-2G>A) c.1118G>A (p.Ser373Asn) c.1343G>A (p.Ser448Asn) c.1274G>A (p.Ser425Asn) | |
| 11 | g.66850300T>A | CA381492507 | PC | c.2638A>T (p.Ser880Cys) n.290-235A>T c.*647A>T (n.*647A>T) c.*1114A>T (n.*1114A>T) c.-3A>T (n.-3A>T) c.1117A>T (p.Ser373Cys) c.1342A>T (p.Ser448Cys) c.1273A>T (p.Ser425Cys) | |
| 11 | g.66850300T>C | CA381492508 | PC | c.2638A>G (p.Ser880Gly) n.290-235A>G c.*647A>G (n.*647A>G) c.*1114A>G (n.*1114A>G) c.-3A>G (n.-3A>G) c.1117A>G (p.Ser373Gly) c.1342A>G (p.Ser448Gly) c.1273A>G (p.Ser425Gly) | ClinVar gnomAD v4 |
| 11 | g.66850300T>G | CA381492509 | PC | c.2638A>C (p.Ser880Arg) n.290-235A>C c.*647A>C (n.*647A>C) c.*1114A>C (n.*1114A>C) c.-3A>C (n.-3A>C) c.1117A>C (p.Ser373Arg) c.1342A>C (p.Ser448Arg) c.1273A>C (p.Ser425Arg) | |
| 11 | g.66850302_66850303del | CA2792479711 | PC | c.2637_2638del (p.His879GlnfsTer?) n.290-236_290-235del c.*646_*647del (n.*646_*647del) c.*1113_*1114del (n.*1113_*1114del) c.-4_-3del (n.-4_-3del) c.1116_1117del (p.His372GlnfsTer?) c.1341_1342del (p.His447GlnfsTer?) c.1272_1273del (p.His424GlnfsTer?) | |
| 11 | g.66850301G>A | CA475500715 | PC | c.2637C>T (p.His879=) n.290-236C>T c.*646C>T (n.*646C>T) c.*1113C>T (n.*1113C>T) c.-4C>T (n.-4C>T) c.1116C>T (p.His372=) c.1341C>T (p.His447=) c.1272C>T (p.His424=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850301G>C | CA381492511 | PC | c.2637C>G (p.His879Gln) n.290-236C>G c.*646C>G (n.*646C>G) c.*1113C>G (n.*1113C>G) c.-4C>G (n.-4C>G) c.1116C>G (p.His372Gln) c.1341C>G (p.His447Gln) c.1272C>G (p.His424Gln) | |
| 11 | g.66850301G= | CA1979879395 | PC | c.2637C= (p.His879=) n.290-236C= c.*646C= (n.*646C=) c.*1113C= (n.*1113C=) c.-4C= (n.-4C=) c.1116C= (p.His372=) c.1341C= (p.His447=) c.1272C= (p.His424=) | |
| 11 | g.66850301G>T | CA381492513 | PC | c.2637C>A (p.His879Gln) n.290-236C>A c.*646C>A (n.*646C>A) c.*1113C>A (n.*1113C>A) c.-4C>A (n.-4C>A) c.1116C>A (p.His372Gln) c.1341C>A (p.His447Gln) c.1272C>A (p.His424Gln) | |
| 11 | g.66850302T>A | CA381492515 | PC | c.2636A>T (p.His879Leu) n.290-237A>T c.*645A>T (n.*645A>T) c.*1112A>T (n.*1112A>T) c.-5A>T (n.-5A>T) c.1115A>T (p.His372Leu) c.1340A>T (p.His447Leu) c.1271A>T (p.His424Leu) | |
| 11 | g.66850302T>C | CA6131025 | PC | c.2636A>G (p.His879Arg) n.290-237A>G c.*645A>G (n.*645A>G) c.*1112A>G (n.*1112A>G) c.-5A>G (n.-5A>G) c.1115A>G (p.His372Arg) c.1340A>G (p.His447Arg) c.1271A>G (p.His424Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850302T>G | CA381492518 | PC | c.2636A>C (p.His879Pro) n.290-237A>C c.*645A>C (n.*645A>C) c.*1112A>C (n.*1112A>C) c.-5A>C (n.-5A>C) c.1115A>C (p.His372Pro) c.1340A>C (p.His447Pro) c.1271A>C (p.His424Pro) | |
| 11 | g.66850302T= | CA1979879398 | PC | c.2636A= (p.His879=) n.290-237A= c.*645A= (n.*645A=) c.*1112A= (n.*1112A=) c.-5A= (n.-5A=) c.1115A= (p.His372=) c.1340A= (p.His447=) c.1271A= (p.His424=) | |
| 11 | g.66850303G>A | CA381492519 | PC | c.2635C>T (p.His879Tyr) n.290-238C>T c.*644C>T (n.*644C>T) c.*1111C>T (n.*1111C>T) c.-6C>T (n.-6C>T) c.1114C>T (p.His372Tyr) c.1339C>T (p.His447Tyr) c.1270C>T (p.His424Tyr) | gnomAD v4 |
| 11 | g.66850303G>C | CA381492520 | PC | c.2635C>G (p.His879Asp) n.290-238C>G c.*644C>G (n.*644C>G) c.*1111C>G (n.*1111C>G) c.-6C>G (n.-6C>G) c.1114C>G (p.His372Asp) c.1339C>G (p.His447Asp) c.1270C>G (p.His424Asp) | |
| 11 | g.66850303G>T | CA381492521 | PC | c.2635C>A (p.His879Asn) n.290-238C>A c.*644C>A (n.*644C>A) c.*1111C>A (n.*1111C>A) c.-6C>A (n.-6C>A) c.1114C>A (p.His372Asn) c.1339C>A (p.His447Asn) c.1270C>A (p.His424Asn) | |
| 11 | g.66850304G>A | CA475500719 | PC | c.2634C>T (p.Ala878=) n.290-239C>T c.*643C>T (n.*643C>T) c.*1110C>T (n.*1110C>T) c.-7C>T (n.-7C>T) c.1113C>T (p.Ala371=) c.1338C>T (p.Ala446=) c.1269C>T (p.Ala423=) | |
| 11 | g.66850304G>C | CA475500720 | PC | c.2634C>G (p.Ala878=) n.290-239C>G c.*643C>G (n.*643C>G) c.*1110C>G (n.*1110C>G) c.-7C>G (n.-7C>G) c.1113C>G (p.Ala371=) c.1338C>G (p.Ala446=) c.1269C>G (p.Ala423=) | |
| 11 | g.66850304G>T | CA475500721 | PC | c.2634C>A (p.Ala878=) n.290-239C>A c.*643C>A (n.*643C>A) c.*1110C>A (n.*1110C>A) c.-7C>A (n.-7C>A) c.1113C>A (p.Ala371=) c.1338C>A (p.Ala446=) c.1269C>A (p.Ala423=) | |
| 11 | g.66850305G>A | CA381492524 | PC | c.2633C>T (p.Ala878Val) n.290-240C>T c.*642C>T (n.*642C>T) c.*1109C>T (n.*1109C>T) c.-8C>T (n.-8C>T) c.1112C>T (p.Ala371Val) c.1337C>T (p.Ala446Val) c.1268C>T (p.Ala423Val) | |
| 11 | g.66850305G>C | CA381492527 | PC | c.2633C>G (p.Ala878Gly) n.290-240C>G c.*642C>G (n.*642C>G) c.*1109C>G (n.*1109C>G) c.-8C>G (n.-8C>G) c.1112C>G (p.Ala371Gly) c.1337C>G (p.Ala446Gly) c.1268C>G (p.Ala423Gly) | |
| 11 | g.66850305G>T | CA381492525 | PC | c.2633C>A (p.Ala878Asp) n.290-240C>A c.*642C>A (n.*642C>A) c.*1109C>A (n.*1109C>A) c.-8C>A (n.-8C>A) c.1112C>A (p.Ala371Asp) c.1337C>A (p.Ala446Asp) c.1268C>A (p.Ala423Asp) | |
| 11 | g.66850306C>A | CA381492528 | PC | c.2632G>T (p.Ala878Ser) n.290-241G>T c.*641G>T (n.*641G>T) c.*1108G>T (n.*1108G>T) c.-9G>T (n.-9G>T) c.1111G>T (p.Ala371Ser) c.1336G>T (p.Ala446Ser) c.1267G>T (p.Ala423Ser) | |
| 11 | g.66850306C>G | CA381492529 | PC | c.2632G>C (p.Ala878Pro) n.290-241G>C c.*641G>C (n.*641G>C) c.*1108G>C (n.*1108G>C) c.-9G>C (n.-9G>C) c.1111G>C (p.Ala371Pro) c.1336G>C (p.Ala446Pro) c.1267G>C (p.Ala423Pro) | |
| 11 | g.66850306C>T | CA381492531 | PC | c.2632G>A (p.Ala878Thr) n.290-241G>A c.*641G>A (n.*641G>A) c.*1108G>A (n.*1108G>A) c.-9G>A (n.-9G>A) c.1111G>A (p.Ala371Thr) c.1336G>A (p.Ala446Thr) c.1267G>A (p.Ala423Thr) | |
| 11 | g.66850307C>A | CA381492532 | PC | c.2631G>T (p.Gln877His) n.290-242G>T c.*640G>T (n.*640G>T) c.*1107G>T (n.*1107G>T) c.-10G>T (n.-10G>T) c.1110G>T (p.Gln370His) c.1335G>T (p.Gln445His) c.1266G>T (p.Gln422His) | |
| 11 | g.66850307C>G | CA381492534 | PC | c.2631G>C (p.Gln877His) n.290-242G>C c.*640G>C (n.*640G>C) c.*1107G>C (n.*1107G>C) c.-10G>C (n.-10G>C) c.1110G>C (p.Gln370His) c.1335G>C (p.Gln445His) c.1266G>C (p.Gln422His) | |
| 11 | g.66850307C>T | CA475500723 | PC | c.2631G>A (p.Gln877=) n.290-242G>A c.*640G>A (n.*640G>A) c.*1107G>A (n.*1107G>A) c.-10G>A (n.-10G>A) c.1110G>A (p.Gln370=) c.1335G>A (p.Gln445=) c.1266G>A (p.Gln422=) | |
| 11 | g.66850308T>A | CA381492535 | PC | c.2630A>T (p.Gln877Leu) n.290-243A>T c.*639A>T (n.*639A>T) c.*1106A>T (n.*1106A>T) c.-11A>T (n.-11A>T) c.1109A>T (p.Gln370Leu) c.1334A>T (p.Gln445Leu) c.1265A>T (p.Gln422Leu) | |
| 11 | g.66850308T>C | CA381492536 | PC | c.2630A>G (p.Gln877Arg) n.290-243A>G c.*639A>G (n.*639A>G) c.*1106A>G (n.*1106A>G) c.-11A>G (n.-11A>G) c.1109A>G (p.Gln370Arg) c.1334A>G (p.Gln445Arg) c.1265A>G (p.Gln422Arg) | |
| 11 | g.66850308T>G | CA381492538 | PC | c.2630A>C (p.Gln877Pro) n.290-243A>C c.*639A>C (n.*639A>C) c.*1106A>C (n.*1106A>C) c.-11A>C (n.-11A>C) c.1109A>C (p.Gln370Pro) c.1334A>C (p.Gln445Pro) c.1265A>C (p.Gln422Pro) | |
| 11 | g.66850309G>A | CA381492543 | PC | c.2629C>T (p.Gln877Ter) n.290-244C>T c.*638C>T (n.*638C>T) c.*1105C>T (n.*1105C>T) c.-12C>T (n.-12C>T) c.1108C>T (p.Gln370Ter) c.1333C>T (p.Gln445Ter) c.1264C>T (p.Gln422Ter) | gnomAD v4 |
| 11 | g.66850309G>C | CA381492544 | PC | c.2629C>G (p.Gln877Glu) n.290-244C>G c.*638C>G (n.*638C>G) c.*1105C>G (n.*1105C>G) c.-12C>G (n.-12C>G) c.1108C>G (p.Gln370Glu) c.1333C>G (p.Gln445Glu) c.1264C>G (p.Gln422Glu) | |
| 11 | g.66850309G>T | CA381492545 | PC | c.2629C>A (p.Gln877Lys) n.290-244C>A c.*638C>A (n.*638C>A) c.*1105C>A (n.*1105C>A) c.-12C>A (n.-12C>A) c.1108C>A (p.Gln370Lys) c.1333C>A (p.Gln445Lys) c.1264C>A (p.Gln422Lys) | |
| 11 | g.66850310G>A | CA475500725 | PC | c.2628C>T (p.Phe876=) n.290-245C>T c.*637C>T (n.*637C>T) c.*1104C>T (n.*1104C>T) c.-13C>T (n.-13C>T) c.1107C>T (p.Phe369=) c.1332C>T (p.Phe444=) c.1263C>T (p.Phe421=) | |
| 11 | g.66850310G>C | CA381492546 | PC | c.2628C>G (p.Phe876Leu) n.290-245C>G c.*637C>G (n.*637C>G) c.*1104C>G (n.*1104C>G) c.-13C>G (n.-13C>G) c.1107C>G (p.Phe369Leu) c.1332C>G (p.Phe444Leu) c.1263C>G (p.Phe421Leu) | |
| 11 | g.66850310G>T | CA381492547 | PC | c.2628C>A (p.Phe876Leu) n.290-245C>A c.*637C>A (n.*637C>A) c.*1104C>A (n.*1104C>A) c.-13C>A (n.-13C>A) c.1107C>A (p.Phe369Leu) c.1332C>A (p.Phe444Leu) c.1263C>A (p.Phe421Leu) | |
| 11 | g.66850311A>C | CA381492548 | PC | c.2627T>G (p.Phe876Cys) n.290-246T>G c.*636T>G (n.*636T>G) c.*1103T>G (n.*1103T>G) c.-14T>G (n.-14T>G) c.1106T>G (p.Phe369Cys) c.1331T>G (p.Phe444Cys) c.1262T>G (p.Phe421Cys) | |
| 11 | g.66850311A>G | CA381492550 | PC | c.2627T>C (p.Phe876Ser) n.290-246T>C c.*636T>C (n.*636T>C) c.*1103T>C (n.*1103T>C) c.-14T>C (n.-14T>C) c.1106T>C (p.Phe369Ser) c.1331T>C (p.Phe444Ser) c.1262T>C (p.Phe421Ser) | |
| 11 | g.66850311A>T | CA381492549 | PC | c.2627T>A (p.Phe876Tyr) n.290-246T>A c.*636T>A (n.*636T>A) c.*1103T>A (n.*1103T>A) c.-14T>A (n.-14T>A) c.1106T>A (p.Phe369Tyr) c.1331T>A (p.Phe444Tyr) c.1262T>A (p.Phe421Tyr) | |
| 11 | g.66850312dup | CA2614541606 | PC | c.2627dup (p.Gln877ProfsTer?) n.290-246dup c.*636dup (n.*636dup) c.*1103dup (n.*1103dup) c.-14dup (n.-14dup) c.1106dup (p.Gln370ProfsTer?) c.1331dup (p.Gln445ProfsTer?) c.1262dup (p.Gln422ProfsTer?) | gnomAD v4 |
| 11 | g.66850312A>C | CA381492551 | PC | c.2626T>G (p.Phe876Val) n.290-247T>G c.*635T>G (n.*635T>G) c.*1102T>G (n.*1102T>G) c.-15T>G (n.-15T>G) c.1105T>G (p.Phe369Val) c.1330T>G (p.Phe444Val) c.1261T>G (p.Phe421Val) | |
| 11 | g.66850312A>G | CA381492552 | PC | c.2626T>C (p.Phe876Leu) n.290-247T>C c.*635T>C (n.*635T>C) c.*1102T>C (n.*1102T>C) c.-15T>C (n.-15T>C) c.1105T>C (p.Phe369Leu) c.1330T>C (p.Phe444Leu) c.1261T>C (p.Phe421Leu) | |
| 11 | g.66850312A>T | CA381492553 | PC | c.2626T>A (p.Phe876Ile) n.290-247T>A c.*635T>A (n.*635T>A) c.*1102T>A (n.*1102T>A) c.-15T>A (n.-15T>A) c.1105T>A (p.Phe369Ile) c.1330T>A (p.Phe444Ile) c.1261T>A (p.Phe421Ile) | |
| 11 | g.66850313G>A | CA475500729 | PC | c.2625C>T (p.His875=) n.290-248C>T c.*634C>T (n.*634C>T) c.*1101C>T (n.*1101C>T) c.-16C>T (n.-16C>T) c.1104C>T (p.His368=) c.1329C>T (p.His443=) c.1260C>T (p.His420=) | gnomAD v4 |
| 11 | g.66850313G>C | CA381492554 | PC | c.2625C>G (p.His875Gln) n.290-248C>G c.*634C>G (n.*634C>G) c.*1101C>G (n.*1101C>G) c.-16C>G (n.-16C>G) c.1104C>G (p.His368Gln) c.1329C>G (p.His443Gln) c.1260C>G (p.His420Gln) | |
| 11 | g.66850313G>T | CA381492555 | PC | c.2625C>A (p.His875Gln) n.290-248C>A c.*634C>A (n.*634C>A) c.*1101C>A (n.*1101C>A) c.-16C>A (n.-16C>A) c.1104C>A (p.His368Gln) c.1329C>A (p.His443Gln) c.1260C>A (p.His420Gln) | |
| 11 | g.66850314T>A | CA381492556 | PC | c.2624A>T (p.His875Leu) n.290-249A>T c.*633A>T (n.*633A>T) c.*1100A>T (n.*1100A>T) c.-17A>T (n.-17A>T) c.1103A>T (p.His368Leu) c.1328A>T (p.His443Leu) c.1259A>T (p.His420Leu) | |
| 11 | g.66850314T>C | CA6131026 | PC | c.2624A>G (p.His875Arg) n.290-249A>G c.*633A>G (n.*633A>G) c.*1100A>G (n.*1100A>G) c.-17A>G (n.-17A>G) c.1103A>G (p.His368Arg) c.1328A>G (p.His443Arg) c.1259A>G (p.His420Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850314T>G | CA381492557 | PC | c.2624A>C (p.His875Pro) n.290-249A>C c.*633A>C (n.*633A>C) c.*1100A>C (n.*1100A>C) c.-17A>C (n.-17A>C) c.1103A>C (p.His368Pro) c.1328A>C (p.His443Pro) c.1259A>C (p.His420Pro) | |
| 11 | g.66850314T= | CA1979879401 | PC | c.2624A= (p.His875=) n.290-249A= c.*633A= (n.*633A=) c.*1100A= (n.*1100A=) c.-17A= (n.-17A=) c.1103A= (p.His368=) c.1328A= (p.His443=) c.1259A= (p.His420=) | |
| 11 | g.66850315G>A | CA381492558 | PC | c.2623C>T (p.His875Tyr) n.290-250C>T c.*632C>T (n.*632C>T) c.*1099C>T (n.*1099C>T) c.-18C>T (n.-18C>T) c.1102C>T (p.His368Tyr) c.1327C>T (p.His443Tyr) c.1258C>T (p.His420Tyr) | ClinVar |
| 11 | g.66850315G>C | CA381492559 | PC | c.2623C>G (p.His875Asp) n.290-250C>G c.*632C>G (n.*632C>G) c.*1099C>G (n.*1099C>G) c.-18C>G (n.-18C>G) c.1102C>G (p.His368Asp) c.1327C>G (p.His443Asp) c.1258C>G (p.His420Asp) | |
| 11 | g.66850315G>T | CA381492560 | PC | c.2623C>A (p.His875Asn) n.290-250C>A c.*632C>A (n.*632C>A) c.*1099C>A (n.*1099C>A) c.-18C>A (n.-18C>A) c.1102C>A (p.His368Asn) c.1327C>A (p.His443Asn) c.1258C>A (p.His420Asn) | |
| 11 | g.66850316C>A | CA475500733 | PC | c.2622G>T (p.Leu874=) n.290-251G>T c.*631G>T (n.*631G>T) c.*1098G>T (n.*1098G>T) c.-19G>T (n.-19G>T) c.1101G>T (p.Leu367=) c.1326G>T (p.Leu442=) c.1257G>T (p.Leu419=) | |
| 11 | g.66850316C>G | CA475500734 | PC | c.2622G>C (p.Leu874=) n.290-251G>C c.*631G>C (n.*631G>C) c.*1098G>C (n.*1098G>C) c.-19G>C (n.-19G>C) c.1101G>C (p.Leu367=) c.1326G>C (p.Leu442=) c.1257G>C (p.Leu419=) | |
| 11 | g.66850316C>T | CA475500732 | PC | c.2622G>A (p.Leu874=) n.290-251G>A c.*631G>A (n.*631G>A) c.*1098G>A (n.*1098G>A) c.-19G>A (n.-19G>A) c.1101G>A (p.Leu367=) c.1326G>A (p.Leu442=) c.1257G>A (p.Leu419=) | |
| 11 | g.66850317A= | CA1979879406 | PC | c.2621T= (p.Leu874=) n.290-252T= c.*630T= (n.*630T=) c.*1097T= (n.*1097T=) c.-20T= (n.-20T=) c.1100T= (p.Leu367=) c.1325T= (p.Leu442=) c.1256T= (p.Leu419=) | |
| 11 | g.66850317A>C | CA381492562 | PC | c.2621T>G (p.Leu874Arg) n.290-252T>G c.*630T>G (n.*630T>G) c.*1097T>G (n.*1097T>G) c.-20T>G (n.-20T>G) c.1100T>G (p.Leu367Arg) c.1325T>G (p.Leu442Arg) c.1256T>G (p.Leu419Arg) | |
| 11 | g.66850317A>G | CA381492563 | PC | c.2621T>C (p.Leu874Pro) n.290-252T>C c.*630T>C (n.*630T>C) c.*1097T>C (n.*1097T>C) c.-20T>C (n.-20T>C) c.1100T>C (p.Leu367Pro) c.1325T>C (p.Leu442Pro) c.1256T>C (p.Leu419Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850317A>T | CA381492561 | PC | c.2621T>A (p.Leu874Gln) n.290-252T>A c.*630T>A (n.*630T>A) c.*1097T>A (n.*1097T>A) c.-20T>A (n.-20T>A) c.1100T>A (p.Leu367Gln) c.1325T>A (p.Leu442Gln) c.1256T>A (p.Leu419Gln) | |
| 11 | g.66850318G>A | CA475500735 | PC | c.2620C>T (p.Leu874=) n.290-253C>T c.*629C>T (n.*629C>T) c.*1096C>T (n.*1096C>T) c.-21C>T (n.-21C>T) c.1099C>T (p.Leu367=) c.1324C>T (p.Leu442=) c.1255C>T (p.Leu419=) | ClinVar gnomAD v4 |
| 11 | g.66850318G>C | CA381492565 | PC | c.2620C>G (p.Leu874Val) n.290-253C>G c.*629C>G (n.*629C>G) c.*1096C>G (n.*1096C>G) c.-21C>G (n.-21C>G) c.1099C>G (p.Leu367Val) c.1324C>G (p.Leu442Val) c.1255C>G (p.Leu419Val) | dbSNP |
| 11 | g.66850318G= | CA1979879410 | PC | c.2620C= (p.Leu874=) n.290-253C= c.*629C= (n.*629C=) c.*1096C= (n.*1096C=) c.-21C= (n.-21C=) c.1099C= (p.Leu367=) c.1324C= (p.Leu442=) c.1255C= (p.Leu419=) | |
| 11 | g.66850318G>T | CA381492564 | PC | c.2620C>A (p.Leu874Met) n.290-253C>A c.*629C>A (n.*629C>A) c.*1096C>A (n.*1096C>A) c.-21C>A (n.-21C>A) c.1099C>A (p.Leu367Met) c.1324C>A (p.Leu442Met) c.1255C>A (p.Leu419Met) | |
| 11 | g.66850319G>A | CA341768 | PC | c.2619C>T (p.Asn873=) n.290-254C>T c.*628C>T (n.*628C>T) c.*1095C>T (n.*1095C>T) c.-22C>T (n.-22C>T) c.1098C>T (p.Asn366=) c.1323C>T (p.Asn441=) c.1254C>T (p.Asn418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850319G>C | CA381492566 | PC | c.2619C>G (p.Asn873Lys) n.290-254C>G c.*628C>G (n.*628C>G) c.*1095C>G (n.*1095C>G) c.-22C>G (n.-22C>G) c.1098C>G (p.Asn366Lys) c.1323C>G (p.Asn441Lys) c.1254C>G (p.Asn418Lys) | |
| 11 | g.66850319G= | CA1979879415 | PC | c.2619C= (p.Asn873=) n.290-254C= c.*628C= (n.*628C=) c.*1095C= (n.*1095C=) c.-22C= (n.-22C=) c.1098C= (p.Asn366=) c.1323C= (p.Asn441=) c.1254C= (p.Asn418=) | |
| 11 | g.66850319G>T | CA381492567 | PC | c.2619C>A (p.Asn873Lys) n.290-254C>A c.*628C>A (n.*628C>A) c.*1095C>A (n.*1095C>A) c.-22C>A (n.-22C>A) c.1098C>A (p.Asn366Lys) c.1323C>A (p.Asn441Lys) c.1254C>A (p.Asn418Lys) | |
| 11 | g.66850320T>A | CA381492568 | PC | c.2618A>T (p.Asn873Ile) n.290-255A>T c.*627A>T (n.*627A>T) c.*1094A>T (n.*1094A>T) c.-23A>T (n.-23A>T) c.1097A>T (p.Asn366Ile) c.1322A>T (p.Asn441Ile) c.1253A>T (p.Asn418Ile) | |
| 11 | g.66850320T>C | CA381492569 | PC | c.2618A>G (p.Asn873Ser) n.290-255A>G c.*627A>G (n.*627A>G) c.*1094A>G (n.*1094A>G) c.-23A>G (n.-23A>G) c.1097A>G (p.Asn366Ser) c.1322A>G (p.Asn441Ser) c.1253A>G (p.Asn418Ser) | dbSNP |
| 11 | g.66850320T>G | CA381492570 | PC | c.2618A>C (p.Asn873Thr) n.290-255A>C c.*627A>C (n.*627A>C) c.*1094A>C (n.*1094A>C) c.-23A>C (n.-23A>C) c.1097A>C (p.Asn366Thr) c.1322A>C (p.Asn441Thr) c.1253A>C (p.Asn418Thr) | |
| 11 | g.66850320T= | CA1979879421 | PC | c.2618A= (p.Asn873=) n.290-255A= c.*627A= (n.*627A=) c.*1094A= (n.*1094A=) c.-23A= (n.-23A=) c.1097A= (p.Asn366=) c.1322A= (p.Asn441=) c.1253A= (p.Asn418=) | |
| 11 | g.66850321T>A | CA381492571 | PC | c.2617A>T (p.Asn873Tyr) n.290-256A>T c.*626A>T (n.*626A>T) c.*1093A>T (n.*1093A>T) c.-24A>T (n.-24A>T) c.1096A>T (p.Asn366Tyr) c.1321A>T (p.Asn441Tyr) c.1252A>T (p.Asn418Tyr) | |
| 11 | g.66850321T>C | CA381492572 | PC | c.2617A>G (p.Asn873Asp) n.290-256A>G c.*626A>G (n.*626A>G) c.*1093A>G (n.*1093A>G) c.-24A>G (n.-24A>G) c.1096A>G (p.Asn366Asp) c.1321A>G (p.Asn441Asp) c.1252A>G (p.Asn418Asp) | |
| 11 | g.66850321T>G | CA381492573 | PC | c.2617A>C (p.Asn873His) n.290-256A>C c.*626A>C (n.*626A>C) c.*1093A>C (n.*1093A>C) c.-24A>C (n.-24A>C) c.1096A>C (p.Asn366His) c.1321A>C (p.Asn441His) c.1252A>C (p.Asn418His) | |
| 11 | g.66850322G>A | CA475500740 | PC | c.2616C>T (p.Thr872=) n.290-257C>T c.*625C>T (n.*625C>T) c.*1092C>T (n.*1092C>T) c.-25C>T (n.-25C>T) c.1095C>T (p.Thr365=) c.1320C>T (p.Thr440=) c.1251C>T (p.Thr417=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850322G>C | CA475500741 | PC | c.2616C>G (p.Thr872=) n.290-257C>G c.*625C>G (n.*625C>G) c.*1092C>G (n.*1092C>G) c.-25C>G (n.-25C>G) c.1095C>G (p.Thr365=) c.1320C>G (p.Thr440=) c.1251C>G (p.Thr417=) | |
| 11 | g.66850322G= | CA1979879423 | PC | c.2616C= (p.Thr872=) n.290-257C= c.*625C= (n.*625C=) c.*1092C= (n.*1092C=) c.-25C= (n.-25C=) c.1095C= (p.Thr365=) c.1320C= (p.Thr440=) c.1251C= (p.Thr417=) | |
| 11 | g.66850322G>T | CA475500742 | PC | c.2616C>A (p.Thr872=) n.290-257C>A c.*625C>A (n.*625C>A) c.*1092C>A (n.*1092C>A) c.-25C>A (n.-25C>A) c.1095C>A (p.Thr365=) c.1320C>A (p.Thr440=) c.1251C>A (p.Thr417=) | |
| 11 | g.66850323G>A | CA381492574 | PC | c.2615C>T (p.Thr872Ile) n.290-258C>T c.*624C>T (n.*624C>T) c.*1091C>T (n.*1091C>T) c.-26C>T (n.-26C>T) c.1094C>T (p.Thr365Ile) c.1319C>T (p.Thr440Ile) c.1250C>T (p.Thr417Ile) | gnomAD v4 |
| 11 | g.66850323G>C | CA381492575 | PC | c.2615C>G (p.Thr872Ser) n.290-258C>G c.*624C>G (n.*624C>G) c.*1091C>G (n.*1091C>G) c.-26C>G (n.-26C>G) c.1094C>G (p.Thr365Ser) c.1319C>G (p.Thr440Ser) c.1250C>G (p.Thr417Ser) | gnomAD v4 |
| 11 | g.66850323G>T | CA381492576 | PC | c.2615C>A (p.Thr872Asn) n.290-258C>A c.*624C>A (n.*624C>A) c.*1091C>A (n.*1091C>A) c.-26C>A (n.-26C>A) c.1094C>A (p.Thr365Asn) c.1319C>A (p.Thr440Asn) c.1250C>A (p.Thr417Asn) | |
| 11 | g.66850324T>A | CA381492577 | PC | c.2614A>T (p.Thr872Ser) n.290-259A>T c.*623A>T (n.*623A>T) c.*1090A>T (n.*1090A>T) c.-27A>T (n.-27A>T) c.1093A>T (p.Thr365Ser) c.1318A>T (p.Thr440Ser) c.1249A>T (p.Thr417Ser) | |
| 11 | g.66850324T>C | CA381492578 | PC | c.2614A>G (p.Thr872Ala) n.290-259A>G c.*623A>G (n.*623A>G) c.*1090A>G (n.*1090A>G) c.-27A>G (n.-27A>G) c.1093A>G (p.Thr365Ala) c.1318A>G (p.Thr440Ala) c.1249A>G (p.Thr417Ala) | |
| 11 | g.66850324T>G | CA381492579 | PC | c.2614A>C (p.Thr872Pro) n.290-259A>C c.*623A>C (n.*623A>C) c.*1090A>C (n.*1090A>C) c.-27A>C (n.-27A>C) c.1093A>C (p.Thr365Pro) c.1318A>C (p.Thr440Pro) c.1249A>C (p.Thr417Pro) | |
| 11 | g.66850325G>A | CA475500743 | PC | c.2613C>T (p.Tyr871=) n.290-260C>T c.*622C>T (n.*622C>T) c.*1089C>T (n.*1089C>T) c.-28C>T (n.-28C>T) c.1092C>T (p.Tyr364=) c.1317C>T (p.Tyr439=) c.1248C>T (p.Tyr416=) | ClinVar dbSNP |
| 11 | g.66850325G>C | CA381492580 | PC | c.2613C>G (p.Tyr871Ter) n.290-260C>G c.*622C>G (n.*622C>G) c.*1089C>G (n.*1089C>G) c.-28C>G (n.-28C>G) c.1092C>G (p.Tyr364Ter) c.1317C>G (p.Tyr439Ter) c.1248C>G (p.Tyr416Ter) | |
| 11 | g.66850325G= | CA1979879426 | PC | c.2613C= (p.Tyr871=) n.290-260C= c.*622C= (n.*622C=) c.*1089C= (n.*1089C=) c.-28C= (n.-28C=) c.1092C= (p.Tyr364=) c.1317C= (p.Tyr439=) c.1248C= (p.Tyr416=) | |
| 11 | g.66850325G>T | CA6131027 | PC | c.2613C>A (p.Tyr871Ter) n.290-260C>A c.*622C>A (n.*622C>A) c.*1089C>A (n.*1089C>A) c.-28C>A (n.-28C>A) c.1092C>A (p.Tyr364Ter) c.1317C>A (p.Tyr439Ter) c.1248C>A (p.Tyr416Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.66850326T>A | CA381492581 | PC | c.2612A>T (p.Tyr871Phe) n.290-261A>T c.*621A>T (n.*621A>T) c.*1088A>T (n.*1088A>T) c.-29A>T (n.-29A>T) c.1091A>T (p.Tyr364Phe) c.1316A>T (p.Tyr439Phe) c.1247A>T (p.Tyr416Phe) | |
| 11 | g.66850326T>C | CA381492582 | PC | c.2612A>G (p.Tyr871Cys) n.290-261A>G c.*621A>G (n.*621A>G) c.*1088A>G (n.*1088A>G) c.-29A>G (n.-29A>G) c.1091A>G (p.Tyr364Cys) c.1316A>G (p.Tyr439Cys) c.1247A>G (p.Tyr416Cys) | |
| 11 | g.66850326T>G | CA381492583 | PC | c.2612A>C (p.Tyr871Ser) n.290-261A>C c.*621A>C (n.*621A>C) c.*1088A>C (n.*1088A>C) c.-29A>C (n.-29A>C) c.1091A>C (p.Tyr364Ser) c.1316A>C (p.Tyr439Ser) c.1247A>C (p.Tyr416Ser) | |
| 11 | g.66850327A= | CA1979879430 | PC | c.2611T= (p.Tyr871=) n.290-262T= c.*620T= (n.*620T=) c.*1087T= (n.*1087T=) c.-30T= (n.-30T=) c.1090T= (p.Tyr364=) c.1315T= (p.Tyr439=) c.1246T= (p.Tyr416=) | |
| 11 | g.66850327A>C | CA381492584 | PC | c.2611T>G (p.Tyr871Asp) n.290-262T>G c.*620T>G (n.*620T>G) c.*1087T>G (n.*1087T>G) c.-30T>G (n.-30T>G) c.1090T>G (p.Tyr364Asp) c.1315T>G (p.Tyr439Asp) c.1246T>G (p.Tyr416Asp) | |
| 11 | g.66850327A>G | CA6131028 | PC | c.2611T>C (p.Tyr871His) n.290-262T>C c.*620T>C (n.*620T>C) c.*1087T>C (n.*1087T>C) c.-30T>C (n.-30T>C) c.1090T>C (p.Tyr364His) c.1315T>C (p.Tyr439His) c.1246T>C (p.Tyr416His) | dbSNP ExAC gnomAD v2 |
| 11 | g.66850327A>T | CA381492585 | PC | c.2611T>A (p.Tyr871Asn) n.290-262T>A c.*620T>A (n.*620T>A) c.*1087T>A (n.*1087T>A) c.-30T>A (n.-30T>A) c.1090T>A (p.Tyr364Asn) c.1315T>A (p.Tyr439Asn) c.1246T>A (p.Tyr416Asn) | |
| 11 | g.66850327dup | CA912972935 | PC | c.2611dup (p.Tyr871LeufsTer?) n.290-262dup c.*620dup (n.*620dup) c.*1087dup (n.*1087dup) c.-30dup (n.-30dup) c.1090dup (p.Tyr364LeufsTer?) c.1315dup (p.Tyr439LeufsTer?) c.1246dup (p.Tyr416LeufsTer?) | |
| 11 | g.66850328C>A | CA381492586 | PC | c.2610G>T (p.Gln870His) n.290-263G>T c.*619G>T (n.*619G>T) c.*1086G>T (n.*1086G>T) c.-31G>T (n.-31G>T) c.1089G>T (p.Gln363His) c.1314G>T (p.Gln438His) c.1245G>T (p.Gln415His) | |
| 11 | g.66850328C>G | CA381492587 | PC | c.2610G>C (p.Gln870His) n.290-263G>C c.*619G>C (n.*619G>C) c.*1086G>C (n.*1086G>C) c.-31G>C (n.-31G>C) c.1089G>C (p.Gln363His) c.1314G>C (p.Gln438His) c.1245G>C (p.Gln415His) | |
| 11 | g.66850328C>T | CA475500750 | PC | c.2610G>A (p.Gln870=) n.290-263G>A c.*619G>A (n.*619G>A) c.*1086G>A (n.*1086G>A) c.-31G>A (n.-31G>A) c.1089G>A (p.Gln363=) c.1314G>A (p.Gln438=) c.1245G>A (p.Gln415=) | |
| 11 | g.66850329_66850334dup | CA658821722 | PC | c.2605_2610dup (p.Gln870_Tyr871insGlyGln) n.290-268_290-263dup c.*614_*619dup (n.*614_*619dup) c.*1081_*1086dup (n.*1081_*1086dup) c.-36_-31dup (n.-36_-31dup) c.1084_1089dup (p.Gln363_Tyr364insGlyGln) c.1309_1314dup (p.Gln438_Tyr439insGlyGln) c.1240_1245dup (p.Gln415_Tyr416insGlyGln) | ClinVar dbSNP |
| 11 | g.66850329T>A | CA381492588 | PC | c.2609A>T (p.Gln870Leu) n.290-264A>T c.*618A>T (n.*618A>T) c.*1085A>T (n.*1085A>T) c.-32A>T (n.-32A>T) c.1088A>T (p.Gln363Leu) c.1313A>T (p.Gln438Leu) c.1244A>T (p.Gln415Leu) | |
| 11 | g.66850329T>C | CA381492589 | PC | c.2609A>G (p.Gln870Arg) n.290-264A>G c.*618A>G (n.*618A>G) c.*1085A>G (n.*1085A>G) c.-32A>G (n.-32A>G) c.1088A>G (p.Gln363Arg) c.1313A>G (p.Gln438Arg) c.1244A>G (p.Gln415Arg) | |
| 11 | g.66850329T>G | CA381492590 | PC | c.2609A>C (p.Gln870Pro) n.290-264A>C c.*618A>C (n.*618A>C) c.*1085A>C (n.*1085A>C) c.-32A>C (n.-32A>C) c.1088A>C (p.Gln363Pro) c.1313A>C (p.Gln438Pro) c.1244A>C (p.Gln415Pro) | |
| 11 | g.66850330G>A | CA381492591 | PC | c.2608C>T (p.Gln870Ter) n.290-265C>T c.*617C>T (n.*617C>T) c.*1084C>T (n.*1084C>T) c.-33C>T (n.-33C>T) c.1087C>T (p.Gln363Ter) c.1312C>T (p.Gln438Ter) c.1243C>T (p.Gln415Ter) | |
| 11 | g.66850330G>C | CA381492592 | PC | c.2608C>G (p.Gln870Glu) n.290-265C>G c.*617C>G (n.*617C>G) c.*1084C>G (n.*1084C>G) c.-33C>G (n.-33C>G) c.1087C>G (p.Gln363Glu) c.1312C>G (p.Gln438Glu) c.1243C>G (p.Gln415Glu) | |
| 11 | g.66850330G>T | CA381492593 | PC | c.2608C>A (p.Gln870Lys) n.290-265C>A c.*617C>A (n.*617C>A) c.*1084C>A (n.*1084C>A) c.-33C>A (n.-33C>A) c.1087C>A (p.Gln363Lys) c.1312C>A (p.Gln438Lys) c.1243C>A (p.Gln415Lys) | |
| 11 | g.66850331G>A | CA6131029 | PC | c.2607C>T (p.Gly869=) n.290-266C>T c.*616C>T (n.*616C>T) c.*1083C>T (n.*1083C>T) c.-34C>T (n.-34C>T) c.1086C>T (p.Gly362=) c.1311C>T (p.Gly437=) c.1242C>T (p.Gly414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850331G>C | CA475500751 | PC | c.2607C>G (p.Gly869=) n.290-266C>G c.*616C>G (n.*616C>G) c.*1083C>G (n.*1083C>G) c.-34C>G (n.-34C>G) c.1086C>G (p.Gly362=) c.1311C>G (p.Gly437=) c.1242C>G (p.Gly414=) | dbSNP |
| 11 | g.66850331G= | CA1979879440 | PC | c.2607C= (p.Gly869=) n.290-266C= c.*616C= (n.*616C=) c.*1083C= (n.*1083C=) c.-34C= (n.-34C=) c.1086C= (p.Gly362=) c.1311C= (p.Gly437=) c.1242C= (p.Gly414=) | |
| 11 | g.66850331G>T | CA475500752 | PC | c.2607C>A (p.Gly869=) n.290-266C>A c.*616C>A (n.*616C>A) c.*1083C>A (n.*1083C>A) c.-34C>A (n.-34C>A) c.1086C>A (p.Gly362=) c.1311C>A (p.Gly437=) c.1242C>A (p.Gly414=) | |
| 11 | g.66850332C>A | CA381492595 | PC | c.2606G>T (p.Gly869Val) n.290-267G>T c.*615G>T (n.*615G>T) c.*1082G>T (n.*1082G>T) c.-35G>T (n.-35G>T) c.1085G>T (p.Gly362Val) c.1310G>T (p.Gly437Val) c.1241G>T (p.Gly414Val) | |
| 11 | g.66850332C= | CA1979879447 | PC | c.2606G= (p.Gly869=) n.290-267G= c.*615G= (n.*615G=) c.*1082G= (n.*1082G=) c.-35G= (n.-35G=) c.1085G= (p.Gly362=) c.1310G= (p.Gly437=) c.1241G= (p.Gly414=) | |
| 11 | g.66850332C>G | CA381492594 | PC | c.2606G>C (p.Gly869Ala) n.290-267G>C c.*615G>C (n.*615G>C) c.*1082G>C (n.*1082G>C) c.-35G>C (n.-35G>C) c.1085G>C (p.Gly362Ala) c.1310G>C (p.Gly437Ala) c.1241G>C (p.Gly414Ala) | ClinVar dbSNP |
| 11 | g.66850332C>T | CA381492596 | PC | c.2606G>A (p.Gly869Asp) n.290-267G>A c.*615G>A (n.*615G>A) c.*1082G>A (n.*1082G>A) c.-35G>A (n.-35G>A) c.1085G>A (p.Gly362Asp) c.1310G>A (p.Gly437Asp) c.1241G>A (p.Gly414Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850336del | CA475500754 | PC | c.2606del (p.Gly869AlafsTer?) n.290-267del c.*615del (n.*615del) c.*1082del (n.*1082del) c.-35del (n.-35del) c.1085del (p.Gly362AlafsTer?) c.1310del (p.Gly437AlafsTer?) c.1241del (p.Gly414AlafsTer?) | COSMIC |
| 11 | g.66850333C>A | CA381492597 | PC | c.2605G>T (p.Gly869Cys) n.290-268G>T c.*614G>T (n.*614G>T) c.*1081G>T (n.*1081G>T) c.-36G>T (n.-36G>T) c.1084G>T (p.Gly362Cys) c.1309G>T (p.Gly437Cys) c.1240G>T (p.Gly414Cys) | |
| 11 | g.66850333C= | CA1979879451 | PC | c.2605G= (p.Gly869=) n.290-268G= c.*614G= (n.*614G=) c.*1081G= (n.*1081G=) c.-36G= (n.-36G=) c.1084G= (p.Gly362=) c.1309G= (p.Gly437=) c.1240G= (p.Gly414=) | |
| 11 | g.66850333C>G | CA381492598 | PC | c.2605G>C (p.Gly869Arg) n.290-268G>C c.*614G>C (n.*614G>C) c.*1081G>C (n.*1081G>C) c.-36G>C (n.-36G>C) c.1084G>C (p.Gly362Arg) c.1309G>C (p.Gly437Arg) c.1240G>C (p.Gly414Arg) | |
| 11 | g.66850333C>T | CA6131030 | PC | c.2605G>A (p.Gly869Ser) n.290-268G>A c.*614G>A (n.*614G>A) c.*1081G>A (n.*1081G>A) c.-36G>A (n.-36G>A) c.1084G>A (p.Gly362Ser) c.1309G>A (p.Gly437Ser) c.1240G>A (p.Gly414Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850334C>A | CA475500758 | PC | c.2604G>T (p.Gly868=) n.290-269G>T c.*613G>T (n.*613G>T) c.*1080G>T (n.*1080G>T) c.-37G>T (n.-37G>T) c.1083G>T (p.Gly361=) c.1308G>T (p.Gly436=) c.1239G>T (p.Gly413=) | |
| 11 | g.66850334C>G | CA475500759 | PC | c.2604G>C (p.Gly868=) n.290-269G>C c.*613G>C (n.*613G>C) c.*1080G>C (n.*1080G>C) c.-37G>C (n.-37G>C) c.1083G>C (p.Gly361=) c.1308G>C (p.Gly436=) c.1239G>C (p.Gly413=) | |
| 11 | g.66850334C>T | CA475500760 | PC | c.2604G>A (p.Gly868=) n.290-269G>A c.*613G>A (n.*613G>A) c.*1080G>A (n.*1080G>A) c.-37G>A (n.-37G>A) c.1083G>A (p.Gly361=) c.1308G>A (p.Gly436=) c.1239G>A (p.Gly413=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850335C>A | CA381492599 | PC | c.2603G>T (p.Gly868Val) n.290-270G>T c.*612G>T (n.*612G>T) c.*1079G>T (n.*1079G>T) c.-38G>T (n.-38G>T) c.1082G>T (p.Gly361Val) c.1307G>T (p.Gly436Val) c.1238G>T (p.Gly413Val) | |
| 11 | g.66850335C>G | CA381492600 | PC | c.2603G>C (p.Gly868Ala) n.290-270G>C c.*612G>C (n.*612G>C) c.*1079G>C (n.*1079G>C) c.-38G>C (n.-38G>C) c.1082G>C (p.Gly361Ala) c.1307G>C (p.Gly436Ala) c.1238G>C (p.Gly413Ala) | |
| 11 | g.66850335C>T | CA381492601 | PC | c.2603G>A (p.Gly868Glu) n.290-270G>A c.*612G>A (n.*612G>A) c.*1079G>A (n.*1079G>A) c.-38G>A (n.-38G>A) c.1082G>A (p.Gly361Glu) c.1307G>A (p.Gly436Glu) c.1238G>A (p.Gly413Glu) | |
| 11 | g.66850336C>A | CA381492602 | PC | c.2602G>T (p.Gly868Trp) n.290-271G>T c.*611G>T (n.*611G>T) c.*1078G>T (n.*1078G>T) c.-39G>T (n.-39G>T) c.1081G>T (p.Gly361Trp) c.1306G>T (p.Gly436Trp) c.1237G>T (p.Gly413Trp) | |
| 11 | g.66850336C>G | CA381492603 | PC | c.2602G>C (p.Gly868Arg) n.290-271G>C c.*611G>C (n.*611G>C) c.*1078G>C (n.*1078G>C) c.-39G>C (n.-39G>C) c.1081G>C (p.Gly361Arg) c.1306G>C (p.Gly436Arg) c.1237G>C (p.Gly413Arg) | |
| 11 | g.66850336C>T | CA381492604 | PC | c.2602G>A (p.Gly868Arg) n.290-271G>A c.*611G>A (n.*611G>A) c.*1078G>A (n.*1078G>A) c.-39G>A (n.-39G>A) c.1081G>A (p.Gly361Arg) c.1306G>A (p.Gly436Arg) c.1237G>A (p.Gly413Arg) | |
| 11 | g.66850336_66850337delinsCT | CA1979879456 | PC | c.2601_2602delinsAG (p.Pro867=) n.290-272_290-271delinsAG c.*610_*611delinsAG (n.*610_*611delinsAG) c.*1077_*1078delinsAG (n.*1077_*1078delinsAG) c.-40_-39delinsAG (n.-40_-39delinsAG) c.1080_1081delinsAG (p.Pro360=) c.1305_1306delinsAG (p.Pro435=) c.1236_1237delinsAG (p.Pro412=) | |
| 11 | g.66850337del | CA475500762 | PC | c.2601del (p.Gly869AlafsTer?) n.290-272del c.*610del (n.*610del) c.*1077del (n.*1077del) c.-40del (n.-40del) c.1080del (p.Gly362AlafsTer?) c.1305del (p.Gly437AlafsTer?) c.1236del (p.Gly414AlafsTer?) | dbSNP COSMIC |
| 11 | g.66850337T>A | CA475500765 | PC | c.2601A>T (p.Pro867=) n.290-272A>T c.*610A>T (n.*610A>T) c.*1077A>T (n.*1077A>T) c.-40A>T (n.-40A>T) c.1080A>T (p.Pro360=) c.1305A>T (p.Pro435=) c.1236A>T (p.Pro412=) | |
| 11 | g.66850337T>C | CA475500764 | PC | c.2601A>G (p.Pro867=) n.290-272A>G c.*610A>G (n.*610A>G) c.*1077A>G (n.*1077A>G) c.-40A>G (n.-40A>G) c.1080A>G (p.Pro360=) c.1305A>G (p.Pro435=) c.1236A>G (p.Pro412=) | |
| 11 | g.66850337T>G | CA475500763 | PC | c.2601A>C (p.Pro867=) n.290-272A>C c.*610A>C (n.*610A>C) c.*1077A>C (n.*1077A>C) c.-40A>C (n.-40A>C) c.1080A>C (p.Pro360=) c.1305A>C (p.Pro435=) c.1236A>C (p.Pro412=) | |
| 11 | g.66850338G>A | CA381492605 | PC | c.2600C>T (p.Pro867Leu) n.290-273C>T c.*609C>T (n.*609C>T) c.*1076C>T (n.*1076C>T) c.-41C>T (n.-41C>T) c.1079C>T (p.Pro360Leu) c.1304C>T (p.Pro435Leu) c.1235C>T (p.Pro412Leu) | |
| 11 | g.66850338G>C | CA224122575 | PC | c.2600C>G (p.Pro867Arg) n.290-273C>G c.*609C>G (n.*609C>G) c.*1076C>G (n.*1076C>G) c.-41C>G (n.-41C>G) c.1079C>G (p.Pro360Arg) c.1304C>G (p.Pro435Arg) c.1235C>G (p.Pro412Arg) | dbSNP gnomAD v4 |
| 11 | g.66850338G= | CA1979879460 | PC | c.2600C= (p.Pro867=) n.290-273C= c.*609C= (n.*609C=) c.*1076C= (n.*1076C=) c.-41C= (n.-41C=) c.1079C= (p.Pro360=) c.1304C= (p.Pro435=) c.1235C= (p.Pro412=) | |
| 11 | g.66850338G>T | CA381492606 | PC | c.2600C>A (p.Pro867Gln) n.290-273C>A c.*609C>A (n.*609C>A) c.*1076C>A (n.*1076C>A) c.-41C>A (n.-41C>A) c.1079C>A (p.Pro360Gln) c.1304C>A (p.Pro435Gln) c.1235C>A (p.Pro412Gln) | |
| 11 | g.66850339G>A | CA381492609 | PC | c.2599C>T (p.Pro867Ser) n.290-274C>T c.*608C>T (n.*608C>T) c.*1075C>T (n.*1075C>T) c.-42C>T (n.-42C>T) c.1078C>T (p.Pro360Ser) c.1303C>T (p.Pro435Ser) c.1234C>T (p.Pro412Ser) | |
| 11 | g.66850339G>C | CA381492608 | PC | c.2599C>G (p.Pro867Ala) n.290-274C>G c.*608C>G (n.*608C>G) c.*1075C>G (n.*1075C>G) c.-42C>G (n.-42C>G) c.1078C>G (p.Pro360Ala) c.1303C>G (p.Pro435Ala) c.1234C>G (p.Pro412Ala) | |
| 11 | g.66850339G>T | CA381492607 | PC | c.2599C>A (p.Pro867Thr) n.290-274C>A c.*608C>A (n.*608C>A) c.*1075C>A (n.*1075C>A) c.-42C>A (n.-42C>A) c.1078C>A (p.Pro360Thr) c.1303C>A (p.Pro435Thr) c.1234C>A (p.Pro412Thr) | |
| 11 | g.66850340G>A | CA475500770 | PC | c.2598C>T (p.Ile866=) n.290-275C>T c.*607C>T (n.*607C>T) c.*1074C>T (n.*1074C>T) c.-43C>T (n.-43C>T) c.1077C>T (p.Ile359=) c.1302C>T (p.Ile434=) c.1233C>T (p.Ile411=) | dbSNP |
| 11 | g.66850340G>C | CA381492610 | PC | c.2598C>G (p.Ile866Met) n.290-275C>G c.*607C>G (n.*607C>G) c.*1074C>G (n.*1074C>G) c.-43C>G (n.-43C>G) c.1077C>G (p.Ile359Met) c.1302C>G (p.Ile434Met) c.1233C>G (p.Ile411Met) | gnomAD v4 |
| 11 | g.66850340G= | CA1979879464 | PC | c.2598C= (p.Ile866=) n.290-275C= c.*607C= (n.*607C=) c.*1074C= (n.*1074C=) c.-43C= (n.-43C=) c.1077C= (p.Ile359=) c.1302C= (p.Ile434=) c.1233C= (p.Ile411=) | |
| 11 | g.66850340G>T | CA475500769 | PC | c.2598C>A (p.Ile866=) n.290-275C>A c.*607C>A (n.*607C>A) c.*1074C>A (n.*1074C>A) c.-43C>A (n.-43C>A) c.1077C>A (p.Ile359=) c.1302C>A (p.Ile434=) c.1233C>A (p.Ile411=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850341A>C | CA381492611 | PC | c.2597T>G (p.Ile866Ser) n.290-276T>G c.*606T>G (n.*606T>G) c.*1073T>G (n.*1073T>G) c.-44T>G (n.-44T>G) c.1076T>G (p.Ile359Ser) c.1301T>G (p.Ile434Ser) c.1232T>G (p.Ile411Ser) | |
| 11 | g.66850341A>G | CA381492612 | PC | c.2597T>C (p.Ile866Thr) n.290-276T>C c.*606T>C (n.*606T>C) c.*1073T>C (n.*1073T>C) c.-44T>C (n.-44T>C) c.1076T>C (p.Ile359Thr) c.1301T>C (p.Ile434Thr) c.1232T>C (p.Ile411Thr) | |
| 11 | g.66850341A>T | CA381492613 | PC | c.2597T>A (p.Ile866Asn) n.290-276T>A c.*606T>A (n.*606T>A) c.*1073T>A (n.*1073T>A) c.-44T>A (n.-44T>A) c.1076T>A (p.Ile359Asn) c.1301T>A (p.Ile434Asn) c.1232T>A (p.Ile411Asn) | |
| 11 | g.66850342T>A | CA381492614 | PC | c.2596A>T (p.Ile866Phe) n.290-277A>T c.*605A>T (n.*605A>T) c.*1072A>T (n.*1072A>T) c.1075A>T (p.Ile359Phe) c.1300A>T (p.Ile434Phe) c.1231A>T (p.Ile411Phe) | |
| 11 | g.66850342T>C | CA381492615 | PC | c.2596A>G (p.Ile866Val) n.290-277A>G c.*605A>G (n.*605A>G) c.*1072A>G (n.*1072A>G) c.1075A>G (p.Ile359Val) c.1300A>G (p.Ile434Val) c.1231A>G (p.Ile411Val) | |
| 11 | g.66850342T>G | CA381492616 | PC | c.2596A>C (p.Ile866Leu) n.290-277A>C c.*605A>C (n.*605A>C) c.*1072A>C (n.*1072A>C) c.1075A>C (p.Ile359Leu) c.1300A>C (p.Ile434Leu) c.1231A>C (p.Ile411Leu) | |
| 11 | g.66850343C>A | CA381492617 | PC | c.2595G>T (p.Glu865Asp) n.290-278G>T c.*604G>T (n.*604G>T) c.*1071G>T (n.*1071G>T) c.1074G>T (p.Glu358Asp) c.1299G>T (p.Glu433Asp) c.1230G>T (p.Glu410Asp) | |
| 11 | g.66850343C= | CA1979879466 | PC | c.2595G= (p.Glu865=) n.290-278G= c.*604G= (n.*604G=) c.*1071G= (n.*1071G=) c.1074G= (p.Glu358=) c.1299G= (p.Glu433=) c.1230G= (p.Glu410=) | |
| 11 | g.66850343C>G | CA381492618 | PC | c.2595G>C (p.Glu865Asp) n.290-278G>C c.*604G>C (n.*604G>C) c.*1071G>C (n.*1071G>C) c.1074G>C (p.Glu358Asp) c.1299G>C (p.Glu433Asp) c.1230G>C (p.Glu410Asp) | |
| 11 | g.66850343C>T | CA224122576 | PC | c.2595G>A (p.Glu865=) n.290-278G>A c.*604G>A (n.*604G>A) c.*1071G>A (n.*1071G>A) c.1074G>A (p.Glu358=) c.1299G>A (p.Glu433=) c.1230G>A (p.Glu410=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850344T>A | CA381492619 | PC | c.2594A>T (p.Glu865Val) n.290-279A>T c.*603A>T (n.*603A>T) c.*1070A>T (n.*1070A>T) c.1073A>T (p.Glu358Val) c.1298A>T (p.Glu433Val) c.1229A>T (p.Glu410Val) | |
| 11 | g.66850344T>C | CA381492620 | PC | c.2594A>G (p.Glu865Gly) n.290-279A>G c.*603A>G (n.*603A>G) c.*1070A>G (n.*1070A>G) c.1073A>G (p.Glu358Gly) c.1298A>G (p.Glu433Gly) c.1229A>G (p.Glu410Gly) | |
| 11 | g.66850344T>G | CA381492621 | PC | c.2594A>C (p.Glu865Ala) n.290-279A>C c.*603A>C (n.*603A>C) c.*1070A>C (n.*1070A>C) c.1073A>C (p.Glu358Ala) c.1298A>C (p.Glu433Ala) c.1229A>C (p.Glu410Ala) | |
| 11 | g.66850345C>A | CA381492622 | PC | c.2593G>T (p.Glu865Ter) n.290-280G>T c.*602G>T (n.*602G>T) c.*1069G>T (n.*1069G>T) c.1072G>T (p.Glu358Ter) c.1297G>T (p.Glu433Ter) c.1228G>T (p.Glu410Ter) | |
| 11 | g.66850345C>G | CA381492624 | PC | c.2593G>C (p.Glu865Gln) n.290-280G>C c.*602G>C (n.*602G>C) c.*1069G>C (n.*1069G>C) c.1072G>C (p.Glu358Gln) c.1297G>C (p.Glu433Gln) c.1228G>C (p.Glu410Gln) | |
| 11 | g.66850345C>T | CA381492623 | PC | c.2593G>A (p.Glu865Lys) n.290-280G>A c.*602G>A (n.*602G>A) c.*1069G>A (n.*1069G>A) c.1072G>A (p.Glu358Lys) c.1297G>A (p.Glu433Lys) c.1228G>A (p.Glu410Lys) | gnomAD v4 |
| 11 | g.66850346A= | CA1979879470 | PC | c.2592T= (p.Asn864=) n.290-281T= c.*601T= (n.*601T=) c.*1068T= (n.*1068T=) c.1071T= (p.Asn357=) c.1296T= (p.Asn432=) c.1227T= (p.Asn409=) | |
| 11 | g.66850346A>C | CA381492625 | PC | c.2592T>G (p.Asn864Lys) n.290-281T>G c.*601T>G (n.*601T>G) c.*1068T>G (n.*1068T>G) c.1071T>G (p.Asn357Lys) c.1296T>G (p.Asn432Lys) c.1227T>G (p.Asn409Lys) | gnomAD v4 |
| 11 | g.66850346A>G | CA6131031 | PC | c.2592T>C (p.Asn864=) n.290-281T>C c.*601T>C (n.*601T>C) c.*1068T>C (n.*1068T>C) c.1071T>C (p.Asn357=) c.1296T>C (p.Asn432=) c.1227T>C (p.Asn409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850346A>T | CA381492626 | PC | c.2592T>A (p.Asn864Lys) n.290-281T>A c.*601T>A (n.*601T>A) c.*1068T>A (n.*1068T>A) c.1071T>A (p.Asn357Lys) c.1296T>A (p.Asn432Lys) c.1227T>A (p.Asn409Lys) | |
| 11 | g.66850347T>A | CA381492627 | PC | c.2591A>T (p.Asn864Ile) n.290-282A>T c.*600A>T (n.*600A>T) c.*1067A>T (n.*1067A>T) c.1070A>T (p.Asn357Ile) c.1295A>T (p.Asn432Ile) c.1226A>T (p.Asn409Ile) | |
| 11 | g.66850347T>C | CA381492628 | PC | c.2591A>G (p.Asn864Ser) n.290-282A>G c.*600A>G (n.*600A>G) c.*1067A>G (n.*1067A>G) c.1070A>G (p.Asn357Ser) c.1295A>G (p.Asn432Ser) c.1226A>G (p.Asn409Ser) | |
| 11 | g.66850347T>G | CA381492629 | PC | c.2591A>C (p.Asn864Thr) n.290-282A>C c.*600A>C (n.*600A>C) c.*1067A>C (n.*1067A>C) c.1070A>C (p.Asn357Thr) c.1295A>C (p.Asn432Thr) c.1226A>C (p.Asn409Thr) | |
| 11 | g.66850350dup | CA2580084574 | PC | c.2591dup (p.Asn864LysfsTer2) n.290-282dup c.*600dup (n.*600dup) c.*1067dup (n.*1067dup) c.1070dup (p.Asn357LysfsTer2) c.1295dup (p.Asn432LysfsTer2) c.1226dup (p.Asn409LysfsTer2) | ClinVar |
| 11 | g.66850348T>A | CA381492630 | PC | c.2590A>T (p.Asn864Tyr) n.290-283A>T c.*599A>T (n.*599A>T) c.*1066A>T (n.*1066A>T) c.1069A>T (p.Asn357Tyr) c.1294A>T (p.Asn432Tyr) c.1225A>T (p.Asn409Tyr) | |
| 11 | g.66850348T>C | CA381492631 | PC | c.2590A>G (p.Asn864Asp) n.290-283A>G c.*599A>G (n.*599A>G) c.*1066A>G (n.*1066A>G) c.1069A>G (p.Asn357Asp) c.1294A>G (p.Asn432Asp) c.1225A>G (p.Asn409Asp) | |
| 11 | g.66850348T>G | CA381492632 | PC | c.2590A>C (p.Asn864His) n.290-283A>C c.*599A>C (n.*599A>C) c.*1066A>C (n.*1066A>C) c.1069A>C (p.Asn357His) c.1294A>C (p.Asn432His) c.1225A>C (p.Asn409His) | |
| 11 | g.66850349T>A | CA381492633 | PC | c.2589A>T (p.Glu863Asp) n.290-284A>T c.*598A>T (n.*598A>T) c.*1065A>T (n.*1065A>T) c.1068A>T (p.Glu356Asp) c.1293A>T (p.Glu431Asp) c.1224A>T (p.Glu408Asp) | |
| 11 | g.66850349T>C | CA475500771 | PC | c.2589A>G (p.Glu863=) n.290-284A>G c.*598A>G (n.*598A>G) c.*1065A>G (n.*1065A>G) c.1068A>G (p.Glu356=) c.1293A>G (p.Glu431=) c.1224A>G (p.Glu408=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850349T>G | CA6131032 | PC | c.2589A>C (p.Glu863Asp) n.290-284A>C c.*598A>C (n.*598A>C) c.*1065A>C (n.*1065A>C) c.1068A>C (p.Glu356Asp) c.1293A>C (p.Glu431Asp) c.1224A>C (p.Glu408Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850349T= | CA1979879476 | PC | c.2589A= (p.Glu863=) n.290-284A= c.*598A= (n.*598A=) c.*1065A= (n.*1065A=) c.1068A= (p.Glu356=) c.1293A= (p.Glu431=) c.1224A= (p.Glu408=) | |
| 11 | g.66850350T>A | CA381492634 | PC | c.2588A>T (p.Glu863Val) n.290-285A>T c.*597A>T (n.*597A>T) c.*1064A>T (n.*1064A>T) c.1067A>T (p.Glu356Val) c.1292A>T (p.Glu431Val) c.1223A>T (p.Glu408Val) | |
| 11 | g.66850350T>C | CA381492635 | PC | c.2588A>G (p.Glu863Gly) n.290-285A>G c.*597A>G (n.*597A>G) c.*1064A>G (n.*1064A>G) c.1067A>G (p.Glu356Gly) c.1292A>G (p.Glu431Gly) c.1223A>G (p.Glu408Gly) | gnomAD v4 |
| 11 | g.66850350T>G | CA381492636 | PC | c.2588A>C (p.Glu863Ala) n.290-285A>C c.*597A>C (n.*597A>C) c.*1064A>C (n.*1064A>C) c.1067A>C (p.Glu356Ala) c.1292A>C (p.Glu431Ala) c.1223A>C (p.Glu408Ala) | gnomAD v4 |
| 11 | g.66850351C>A | CA381492639 | PC | c.2587G>T (p.Glu863Ter) n.290-286G>T c.*596G>T (n.*596G>T) c.*1063G>T (n.*1063G>T) c.1066G>T (p.Glu356Ter) c.1291G>T (p.Glu431Ter) c.1222G>T (p.Glu408Ter) | |
| 11 | g.66850351C>G | CA381492638 | PC | c.2587G>C (p.Glu863Gln) n.290-286G>C c.*596G>C (n.*596G>C) c.*1063G>C (n.*1063G>C) c.1066G>C (p.Glu356Gln) c.1291G>C (p.Glu431Gln) c.1222G>C (p.Glu408Gln) | |
| 11 | g.66850351C>T | CA381492637 | PC | c.2587G>A (p.Glu863Lys) n.290-286G>A c.*596G>A (n.*596G>A) c.*1063G>A (n.*1063G>A) c.1066G>A (p.Glu356Lys) c.1291G>A (p.Glu431Lys) c.1222G>A (p.Glu408Lys) | gnomAD v4 |
| 11 | g.66850352A= | CA1979879479 | PC | c.2586T= (p.Tyr862=) n.290-287T= c.*595T= (n.*595T=) c.*1062T= (n.*1062T=) c.1065T= (p.Tyr355=) c.1290T= (p.Tyr430=) c.1221T= (p.Tyr407=) | |
| 11 | g.66850352A>C | CA381492640 | PC | c.2586T>G (p.Tyr862Ter) n.290-287T>G c.*595T>G (n.*595T>G) c.*1062T>G (n.*1062T>G) c.1065T>G (p.Tyr355Ter) c.1290T>G (p.Tyr430Ter) c.1221T>G (p.Tyr407Ter) | |
| 11 | g.66850352A>G | CA6131033 | PC | c.2586T>C (p.Tyr862=) n.290-287T>C c.*595T>C (n.*595T>C) c.*1062T>C (n.*1062T>C) c.1065T>C (p.Tyr355=) c.1290T>C (p.Tyr430=) c.1221T>C (p.Tyr407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850352A>T | CA381492641 | PC | c.2586T>A (p.Tyr862Ter) n.290-287T>A c.*595T>A (n.*595T>A) c.*1062T>A (n.*1062T>A) c.1065T>A (p.Tyr355Ter) c.1290T>A (p.Tyr430Ter) c.1221T>A (p.Tyr407Ter) | |
| 11 | g.66850353T>A | CA381492642 | PC | c.2585A>T (p.Tyr862Phe) n.290-288A>T c.*594A>T (n.*594A>T) c.*1061A>T (n.*1061A>T) c.1064A>T (p.Tyr355Phe) c.1289A>T (p.Tyr430Phe) c.1220A>T (p.Tyr407Phe) | |
| 11 | g.66850353T>C | CA381492643 | PC | c.2585A>G (p.Tyr862Cys) n.290-288A>G c.*594A>G (n.*594A>G) c.*1061A>G (n.*1061A>G) c.1064A>G (p.Tyr355Cys) c.1289A>G (p.Tyr430Cys) c.1220A>G (p.Tyr407Cys) | gnomAD v4 |
| 11 | g.66850353T>G | CA381492644 | PC | c.2585A>C (p.Tyr862Ser) n.290-288A>C c.*594A>C (n.*594A>C) c.*1061A>C (n.*1061A>C) c.1064A>C (p.Tyr355Ser) c.1289A>C (p.Tyr430Ser) c.1220A>C (p.Tyr407Ser) | |
| 11 | g.66850354A>C | CA381492645 | PC | c.2584T>G (p.Tyr862Asp) n.290-289T>G c.*593T>G (n.*593T>G) c.*1060T>G (n.*1060T>G) c.1063T>G (p.Tyr355Asp) c.1288T>G (p.Tyr430Asp) c.1219T>G (p.Tyr407Asp) | |
| 11 | g.66850354A>G | CA381492646 | PC | c.2584T>C (p.Tyr862His) n.290-289T>C c.*593T>C (n.*593T>C) c.*1060T>C (n.*1060T>C) c.1063T>C (p.Tyr355His) c.1288T>C (p.Tyr430His) c.1219T>C (p.Tyr407His) | |
| 11 | g.66850354A>T | CA381492647 | PC | c.2584T>A (p.Tyr862Asn) n.290-289T>A c.*593T>A (n.*593T>A) c.*1060T>A (n.*1060T>A) c.1063T>A (p.Tyr355Asn) c.1288T>A (p.Tyr430Asn) c.1219T>A (p.Tyr407Asn) | |
| 11 | g.66850355C>A | CA475500772 | PC | c.2583G>T (p.Val861=) n.290-290G>T c.*592G>T (n.*592G>T) c.*1059G>T (n.*1059G>T) c.1062G>T (p.Val354=) c.1287G>T (p.Val429=) c.1218G>T (p.Val406=) | |
| 11 | g.66850355C>G | CA475500773 | PC | c.2583G>C (p.Val861=) n.290-290G>C c.*592G>C (n.*592G>C) c.*1059G>C (n.*1059G>C) c.1062G>C (p.Val354=) c.1287G>C (p.Val429=) c.1218G>C (p.Val406=) | |
| 11 | g.66850355C>T | CA475500774 | PC | c.2583G>A (p.Val861=) n.290-290G>A c.*592G>A (n.*592G>A) c.*1059G>A (n.*1059G>A) c.1062G>A (p.Val354=) c.1287G>A (p.Val429=) c.1218G>A (p.Val406=) | dbSNP gnomAD v4 |
| 11 | g.66850356A>C | CA381492648 | PC | c.2582T>G (p.Val861Gly) n.290-291T>G c.*591T>G (n.*591T>G) c.*1058T>G (n.*1058T>G) c.1061T>G (p.Val354Gly) c.1286T>G (p.Val429Gly) c.1217T>G (p.Val406Gly) | |
| 11 | g.66850356A>G | CA381492649 | PC | c.2582T>C (p.Val861Ala) n.290-291T>C c.*591T>C (n.*591T>C) c.*1058T>C (n.*1058T>C) c.1061T>C (p.Val354Ala) c.1286T>C (p.Val429Ala) c.1217T>C (p.Val406Ala) | |
| 11 | g.66850356A>T | CA381492650 | PC | c.2582T>A (p.Val861Glu) n.290-291T>A c.*591T>A (n.*591T>A) c.*1058T>A (n.*1058T>A) c.1061T>A (p.Val354Glu) c.1286T>A (p.Val429Glu) c.1217T>A (p.Val406Glu) | |
| 11 | g.66850357del | CA2499221217 | PC | c.2581del (p.Val861CysfsTer?) n.290-292del c.*590del (n.*590del) c.*1057del (n.*1057del) c.1060del (p.Val354CysfsTer?) c.1285del (p.Val429CysfsTer?) c.1216del (p.Val406CysfsTer?) | ClinVar dbSNP |
| 11 | g.66850357C>A | CA381492653 | PC | c.2581G>T (p.Val861Leu) n.290-292G>T c.*590G>T (n.*590G>T) c.*1057G>T (n.*1057G>T) c.1060G>T (p.Val354Leu) c.1285G>T (p.Val429Leu) c.1216G>T (p.Val406Leu) | |
| 11 | g.66850357C>G | CA381492652 | PC | c.2581G>C (p.Val861Leu) n.290-292G>C c.*590G>C (n.*590G>C) c.*1057G>C (n.*1057G>C) c.1060G>C (p.Val354Leu) c.1285G>C (p.Val429Leu) c.1216G>C (p.Val406Leu) | |
| 11 | g.66850357C>T | CA381492651 | PC | c.2581G>A (p.Val861Met) n.290-292G>A c.*590G>A (n.*590G>A) c.*1057G>A (n.*1057G>A) c.1060G>A (p.Val354Met) c.1285G>A (p.Val429Met) c.1216G>A (p.Val406Met) | dbSNP gnomAD v4 |
| 11 | g.66850358G>A | CA292678 | PC | c.2580C>T (p.Asp860=) n.290-293C>T c.*589C>T (n.*589C>T) c.*1056C>T (n.*1056C>T) c.1059C>T (p.Asp353=) c.1284C>T (p.Asp428=) c.1215C>T (p.Asp405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850358G>C | CA381492654 | PC | c.2580C>G (p.Asp860Glu) n.290-293C>G c.*589C>G (n.*589C>G) c.*1056C>G (n.*1056C>G) c.1059C>G (p.Asp353Glu) c.1284C>G (p.Asp428Glu) c.1215C>G (p.Asp405Glu) | dbSNP |
| 11 | g.66850358G= | CA1979879485 | PC | c.2580C= (p.Asp860=) n.290-293C= c.*589C= (n.*589C=) c.*1056C= (n.*1056C=) c.1059C= (p.Asp353=) c.1284C= (p.Asp428=) c.1215C= (p.Asp405=) | |
| 11 | g.66850358G>T | CA381492655 | PC | c.2580C>A (p.Asp860Glu) n.290-293C>A c.*589C>A (n.*589C>A) c.*1056C>A (n.*1056C>A) c.1059C>A (p.Asp353Glu) c.1284C>A (p.Asp428Glu) c.1215C>A (p.Asp405Glu) | |
| 11 | g.66850359T>A | CA381492656 | PC | c.2579A>T (p.Asp860Val) n.290-294A>T c.*588A>T (n.*588A>T) c.*1055A>T (n.*1055A>T) c.1058A>T (p.Asp353Val) c.1283A>T (p.Asp428Val) c.1214A>T (p.Asp405Val) | |
| 11 | g.66850359T>C | CA381492657 | PC | c.2579A>G (p.Asp860Gly) n.290-294A>G c.*588A>G (n.*588A>G) c.*1055A>G (n.*1055A>G) c.1058A>G (p.Asp353Gly) c.1283A>G (p.Asp428Gly) c.1214A>G (p.Asp405Gly) | |
| 11 | g.66850359T>G | CA381492658 | PC | c.2579A>C (p.Asp860Ala) n.290-294A>C c.*588A>C (n.*588A>C) c.*1055A>C (n.*1055A>C) c.1058A>C (p.Asp353Ala) c.1283A>C (p.Asp428Ala) c.1214A>C (p.Asp405Ala) | |
| 11 | g.66850360C>A | CA381492659 | PC | c.2578G>T (p.Asp860Tyr) n.290-295G>T c.*587G>T (n.*587G>T) c.*1054G>T (n.*1054G>T) c.1057G>T (p.Asp353Tyr) c.1282G>T (p.Asp428Tyr) c.1213G>T (p.Asp405Tyr) | |
| 11 | g.66850360C>G | CA381492660 | PC | c.2578G>C (p.Asp860His) n.290-295G>C c.*587G>C (n.*587G>C) c.*1054G>C (n.*1054G>C) c.1057G>C (p.Asp353His) c.1282G>C (p.Asp428His) c.1213G>C (p.Asp405His) | |
| 11 | g.66850360C>T | CA381492661 | PC | c.2578G>A (p.Asp860Asn) n.290-295G>A c.*587G>A (n.*587G>A) c.*1054G>A (n.*1054G>A) c.1057G>A (p.Asp353Asn) c.1282G>A (p.Asp428Asn) c.1213G>A (p.Asp405Asn) | |
| 11 | g.66850361C>A | CA475500775 | PC | c.2577G>T (p.Ser859=) n.290-296G>T c.*586G>T (n.*586G>T) c.*1053G>T (n.*1053G>T) c.1056G>T (p.Ser352=) c.1281G>T (p.Ser427=) c.1212G>T (p.Ser404=) | |
| 11 | g.66850361C= | CA1979879496 | PC | c.2577G= (p.Ser859=) n.290-296G= c.*586G= (n.*586G=) c.*1053G= (n.*1053G=) c.1056G= (p.Ser352=) c.1281G= (p.Ser427=) c.1212G= (p.Ser404=) | |
| 11 | g.66850361C>G | CA475500776 | PC | c.2577G>C (p.Ser859=) n.290-296G>C c.*586G>C (n.*586G>C) c.*1053G>C (n.*1053G>C) c.1056G>C (p.Ser352=) c.1281G>C (p.Ser427=) c.1212G>C (p.Ser404=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850361C>T | CA312860 | PC | c.2577G>A (p.Ser859=) n.290-296G>A c.*586G>A (n.*586G>A) c.*1053G>A (n.*1053G>A) c.1056G>A (p.Ser352=) c.1281G>A (p.Ser427=) c.1212G>A (p.Ser404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850362G>A | CA381492662 | PC | c.2576C>T (p.Ser859Leu) n.290-297C>T c.*585C>T (n.*585C>T) c.*1052C>T (n.*1052C>T) c.1055C>T (p.Ser352Leu) c.1280C>T (p.Ser427Leu) c.1211C>T (p.Ser404Leu) | gnomAD v4 COSMIC |
| 11 | g.66850362G>C | CA381492663 | PC | c.2576C>G (p.Ser859Trp) n.290-297C>G c.*585C>G (n.*585C>G) c.*1052C>G (n.*1052C>G) c.1055C>G (p.Ser352Trp) c.1280C>G (p.Ser427Trp) c.1211C>G (p.Ser404Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850362G= | CA1979879499 | PC | c.2576C= (p.Ser859=) n.290-297C= c.*585C= (n.*585C=) c.*1052C= (n.*1052C=) c.1055C= (p.Ser352=) c.1280C= (p.Ser427=) c.1211C= (p.Ser404=) | |
| 11 | g.66850362G>T | CA381492664 | PC | c.2576C>A (p.Ser859Ter) n.290-297C>A c.*585C>A (n.*585C>A) c.*1052C>A (n.*1052C>A) c.1055C>A (p.Ser352Ter) c.1280C>A (p.Ser427Ter) c.1211C>A (p.Ser404Ter) | ClinVar |
| 11 | g.66850363A>C | CA381492667 | PC | c.2575T>G (p.Ser859Ala) n.290-298T>G c.*584T>G (n.*584T>G) c.*1051T>G (n.*1051T>G) c.1054T>G (p.Ser352Ala) c.1279T>G (p.Ser427Ala) c.1210T>G (p.Ser404Ala) | |
| 11 | g.66850363A>G | CA381492665 | PC | c.2575T>C (p.Ser859Pro) n.290-298T>C c.*584T>C (n.*584T>C) c.*1051T>C (n.*1051T>C) c.1054T>C (p.Ser352Pro) c.1279T>C (p.Ser427Pro) c.1210T>C (p.Ser404Pro) | |
| 11 | g.66850363A>T | CA381492666 | PC | c.2575T>A (p.Ser859Thr) n.290-298T>A c.*584T>A (n.*584T>A) c.*1051T>A (n.*1051T>A) c.1054T>A (p.Ser352Thr) c.1279T>A (p.Ser427Thr) c.1210T>A (p.Ser404Thr) | |
| 11 | g.66850364G>A | CA6131034 | PC | c.2574C>T (p.Asn858=) n.290-299C>T c.*583C>T (n.*583C>T) c.*1050C>T (n.*1050C>T) c.1053C>T (p.Asn351=) c.1278C>T (p.Asn426=) c.1209C>T (p.Asn403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850364G>C | CA381492668 | PC | c.2574C>G (p.Asn858Lys) n.290-299C>G c.*583C>G (n.*583C>G) c.*1050C>G (n.*1050C>G) c.1053C>G (p.Asn351Lys) c.1278C>G (p.Asn426Lys) c.1209C>G (p.Asn403Lys) | |
| 11 | g.66850364G= | CA1979879501 | PC | c.2574C= (p.Asn858=) n.290-299C= c.*583C= (n.*583C=) c.*1050C= (n.*1050C=) c.1053C= (p.Asn351=) c.1278C= (p.Asn426=) c.1209C= (p.Asn403=) | |
| 11 | g.66850364G>T | CA381492669 | PC | c.2574C>A (p.Asn858Lys) n.290-299C>A c.*583C>A (n.*583C>A) c.*1050C>A (n.*1050C>A) c.1053C>A (p.Asn351Lys) c.1278C>A (p.Asn426Lys) c.1209C>A (p.Asn403Lys) | COSMIC |
| 11 | g.66850365T>A | CA381492670 | PC | c.2573A>T (p.Asn858Ile) n.290-300A>T c.*582A>T (n.*582A>T) c.*1049A>T (n.*1049A>T) c.1052A>T (p.Asn351Ile) c.1277A>T (p.Asn426Ile) c.1208A>T (p.Asn403Ile) | |
| 11 | g.66850365T>C | CA381492671 | PC | c.2573A>G (p.Asn858Ser) n.290-300A>G c.*582A>G (n.*582A>G) c.*1049A>G (n.*1049A>G) c.1052A>G (p.Asn351Ser) c.1277A>G (p.Asn426Ser) c.1208A>G (p.Asn403Ser) | |
| 11 | g.66850365T>G | CA381492672 | PC | c.2573A>C (p.Asn858Thr) n.290-300A>C c.*582A>C (n.*582A>C) c.*1049A>C (n.*1049A>C) c.1052A>C (p.Asn351Thr) c.1277A>C (p.Asn426Thr) c.1208A>C (p.Asn403Thr) | |
| 11 | g.66850366T>A | CA381492673 | PC | c.2572A>T (p.Asn858Tyr) n.290-301A>T c.*581A>T (n.*581A>T) c.*1048A>T (n.*1048A>T) c.1051A>T (p.Asn351Tyr) c.1276A>T (p.Asn426Tyr) c.1207A>T (p.Asn403Tyr) | |
| 11 | g.66850366T>C | CA381492674 | PC | c.2572A>G (p.Asn858Asp) n.290-301A>G c.*581A>G (n.*581A>G) c.*1048A>G (n.*1048A>G) c.1051A>G (p.Asn351Asp) c.1276A>G (p.Asn426Asp) c.1207A>G (p.Asn403Asp) | |
| 11 | g.66850366T>G | CA381492675 | PC | c.2572A>C (p.Asn858His) n.290-301A>C c.*581A>C (n.*581A>C) c.*1048A>C (n.*1048A>C) c.1051A>C (p.Asn351His) c.1276A>C (p.Asn426His) c.1207A>C (p.Asn403His) | |
| 11 | g.66850367G>A | CA475500777 | PC | c.2571C>T (p.Gly857=) n.290-302C>T c.*580C>T (n.*580C>T) c.*1047C>T (n.*1047C>T) c.1050C>T (p.Gly350=) c.1275C>T (p.Gly425=) c.1206C>T (p.Gly402=) | dbSNP |
| 11 | g.66850367G>C | CA475500778 | PC | c.2571C>G (p.Gly857=) n.290-302C>G c.*580C>G (n.*580C>G) c.*1047C>G (n.*1047C>G) c.1050C>G (p.Gly350=) c.1275C>G (p.Gly425=) c.1206C>G (p.Gly402=) | |
| 11 | g.66850367G= | CA1979879505 | PC | c.2571C= (p.Gly857=) n.290-302C= c.*580C= (n.*580C=) c.*1047C= (n.*1047C=) c.1050C= (p.Gly350=) c.1275C= (p.Gly425=) c.1206C= (p.Gly402=) | |
| 11 | g.66850367G>T | CA475500779 | PC | c.2571C>A (p.Gly857=) n.290-302C>A c.*580C>A (n.*580C>A) c.*1047C>A (n.*1047C>A) c.1050C>A (p.Gly350=) c.1275C>A (p.Gly425=) c.1206C>A (p.Gly402=) | dbSNP COSMIC |
| 11 | g.66850368C>A | CA381492676 | PC | c.2570G>T (p.Gly857Val) n.290-303G>T c.*579G>T (n.*579G>T) c.*1046G>T (n.*1046G>T) c.1049G>T (p.Gly350Val) c.1274G>T (p.Gly425Val) c.1205G>T (p.Gly402Val) | |
| 11 | g.66850368C>G | CA381492677 | PC | c.2570G>C (p.Gly857Ala) n.290-303G>C c.*579G>C (n.*579G>C) c.*1046G>C (n.*1046G>C) c.1049G>C (p.Gly350Ala) c.1274G>C (p.Gly425Ala) c.1205G>C (p.Gly402Ala) | |
| 11 | g.66850368C>T | CA381492678 | PC | c.2570G>A (p.Gly857Asp) n.290-303G>A c.*579G>A (n.*579G>A) c.*1046G>A (n.*1046G>A) c.1049G>A (p.Gly350Asp) c.1274G>A (p.Gly425Asp) c.1205G>A (p.Gly402Asp) | |
| 11 | g.66850369C>A | CA381492679 | PC | c.2569G>T (p.Gly857Cys) n.290-304G>T c.*578G>T (n.*578G>T) c.*1045G>T (n.*1045G>T) c.1048G>T (p.Gly350Cys) c.1273G>T (p.Gly425Cys) c.1204G>T (p.Gly402Cys) | |
| 11 | g.66850369C>G | CA381492681 | PC | c.2569G>C (p.Gly857Arg) n.290-304G>C c.*578G>C (n.*578G>C) c.*1045G>C (n.*1045G>C) c.1048G>C (p.Gly350Arg) c.1273G>C (p.Gly425Arg) c.1204G>C (p.Gly402Arg) | |
| 11 | g.66850369C>T | CA381492680 | PC | c.2569G>A (p.Gly857Ser) n.290-304G>A c.*578G>A (n.*578G>A) c.*1045G>A (n.*1045G>A) c.1048G>A (p.Gly350Ser) c.1273G>A (p.Gly425Ser) c.1204G>A (p.Gly402Ser) | gnomAD v4 |
| 11 | g.66850370A>C | CA475500781 | PC | c.2568T>G (p.Ser856=) n.290-305T>G c.*577T>G (n.*577T>G) c.*1044T>G (n.*1044T>G) c.1047T>G (p.Ser349=) c.1272T>G (p.Ser424=) c.1203T>G (p.Ser401=) | ClinVar dbSNP |
| 11 | g.66850370A>G | CA475500780 | PC | c.2568T>C (p.Ser856=) n.290-305T>C c.*577T>C (n.*577T>C) c.*1044T>C (n.*1044T>C) c.1047T>C (p.Ser349=) c.1272T>C (p.Ser424=) c.1203T>C (p.Ser401=) | |
| 11 | g.66850370A>T | CA475500782 | PC | c.2568T>A (p.Ser856=) n.290-305T>A c.*577T>A (n.*577T>A) c.*1044T>A (n.*1044T>A) c.1047T>A (p.Ser349=) c.1272T>A (p.Ser424=) c.1203T>A (p.Ser401=) | |
| 11 | g.66850371G>A | CA381492682 | PC | c.2567C>T (p.Ser856Phe) n.290-306C>T c.*576C>T (n.*576C>T) c.*1043C>T (n.*1043C>T) c.1046C>T (p.Ser349Phe) c.1271C>T (p.Ser424Phe) c.1202C>T (p.Ser401Phe) | gnomAD v4 |
| 11 | g.66850371G>C | CA381492684 | PC | c.2567C>G (p.Ser856Cys) n.290-306C>G c.*576C>G (n.*576C>G) c.*1043C>G (n.*1043C>G) c.1046C>G (p.Ser349Cys) c.1271C>G (p.Ser424Cys) c.1202C>G (p.Ser401Cys) | ClinVar |
| 11 | g.66850371G>T | CA381492683 | PC | c.2567C>A (p.Ser856Tyr) n.290-306C>A c.*576C>A (n.*576C>A) c.*1043C>A (n.*1043C>A) c.1046C>A (p.Ser349Tyr) c.1271C>A (p.Ser424Tyr) c.1202C>A (p.Ser401Tyr) | |
| 11 | g.66850372A= | CA1979879507 | PC | c.2566T= (p.Ser856=) n.290-307T= c.*575T= (n.*575T=) c.*1042T= (n.*1042T=) c.1045T= (p.Ser349=) c.1270T= (p.Ser424=) c.1201T= (p.Ser401=) | |
| 11 | g.66850372A>C | CA381492685 | PC | c.2566T>G (p.Ser856Ala) n.290-307T>G c.*575T>G (n.*575T>G) c.*1042T>G (n.*1042T>G) c.1045T>G (p.Ser349Ala) c.1270T>G (p.Ser424Ala) c.1201T>G (p.Ser401Ala) | |
| 11 | g.66850372A>G | CA381492686 | PC | c.2566T>C (p.Ser856Pro) n.290-307T>C c.*575T>C (n.*575T>C) c.*1042T>C (n.*1042T>C) c.1045T>C (p.Ser349Pro) c.1270T>C (p.Ser424Pro) c.1201T>C (p.Ser401Pro) | dbSNP |
| 11 | g.66850372A>T | CA381492687 | PC | c.2566T>A (p.Ser856Thr) n.290-307T>A c.*575T>A (n.*575T>A) c.*1042T>A (n.*1042T>A) c.1045T>A (p.Ser349Thr) c.1270T>A (p.Ser424Thr) c.1201T>A (p.Ser401Thr) | |
| 11 | g.66850373C>A | CA381492688 | PC | c.2565G>T (p.Lys855Asn) n.290-308G>T c.*574G>T (n.*574G>T) c.*1041G>T (n.*1041G>T) c.1044G>T (p.Lys348Asn) c.1269G>T (p.Lys423Asn) c.1200G>T (p.Lys400Asn) | |
| 11 | g.66850373C>G | CA381492689 | PC | c.2565G>C (p.Lys855Asn) n.290-308G>C c.*574G>C (n.*574G>C) c.*1041G>C (n.*1041G>C) c.1044G>C (p.Lys348Asn) c.1269G>C (p.Lys423Asn) c.1200G>C (p.Lys400Asn) | |
| 11 | g.66850373C>T | CA475500783 | PC | c.2565G>A (p.Lys855=) n.290-308G>A c.*574G>A (n.*574G>A) c.*1041G>A (n.*1041G>A) c.1044G>A (p.Lys348=) c.1269G>A (p.Lys423=) c.1200G>A (p.Lys400=) | |
| 11 | g.66850374T>A | CA381492692 | PC | c.2564A>T (p.Lys855Met) n.290-309A>T c.*573A>T (n.*573A>T) c.*1040A>T (n.*1040A>T) c.1043A>T (p.Lys348Met) c.1268A>T (p.Lys423Met) c.1199A>T (p.Lys400Met) | |
| 11 | g.66850374T>C | CA381492691 | PC | c.2564A>G (p.Lys855Arg) n.290-309A>G c.*573A>G (n.*573A>G) c.*1040A>G (n.*1040A>G) c.1043A>G (p.Lys348Arg) c.1268A>G (p.Lys423Arg) c.1199A>G (p.Lys400Arg) | |
| 11 | g.66850374T>G | CA381492690 | PC | c.2564A>C (p.Lys855Thr) n.290-309A>C c.*573A>C (n.*573A>C) c.*1040A>C (n.*1040A>C) c.1043A>C (p.Lys348Thr) c.1268A>C (p.Lys423Thr) c.1199A>C (p.Lys400Thr) | |
| 11 | g.66850375T>A | CA381492693 | PC | c.2563A>T (p.Lys855Ter) n.290-310A>T c.*572A>T (n.*572A>T) c.*1039A>T (n.*1039A>T) c.1042A>T (p.Lys348Ter) c.1267A>T (p.Lys423Ter) c.1198A>T (p.Lys400Ter) | COSMIC |
| 11 | g.66850375T>C | CA381492694 | PC | c.2563A>G (p.Lys855Glu) n.290-310A>G c.*572A>G (n.*572A>G) c.*1039A>G (n.*1039A>G) c.1042A>G (p.Lys348Glu) c.1267A>G (p.Lys423Glu) c.1198A>G (p.Lys400Glu) | |
| 11 | g.66850375T>G | CA381492695 | PC | c.2563A>C (p.Lys855Gln) n.290-310A>C c.*572A>C (n.*572A>C) c.*1039A>C (n.*1039A>C) c.1042A>C (p.Lys348Gln) c.1267A>C (p.Lys423Gln) c.1198A>C (p.Lys400Gln) | |
| 11 | g.66850376C>A | CA381492696 | PC | c.2562G>T (p.Met854Ile) n.290-311G>T c.*571G>T (n.*571G>T) c.*1038G>T (n.*1038G>T) c.1041G>T (p.Met347Ile) c.1266G>T (p.Met422Ile) c.1197G>T (p.Met399Ile) | |
| 11 | g.66850376C>G | CA381492697 | PC | c.2562G>C (p.Met854Ile) n.290-311G>C c.*571G>C (n.*571G>C) c.*1038G>C (n.*1038G>C) c.1041G>C (p.Met347Ile) c.1266G>C (p.Met422Ile) c.1197G>C (p.Met399Ile) | |
| 11 | g.66850376C>T | CA381492698 | PC | c.2562G>A (p.Met854Ile) n.290-311G>A c.*571G>A (n.*571G>A) c.*1038G>A (n.*1038G>A) c.1041G>A (p.Met347Ile) c.1266G>A (p.Met422Ile) c.1197G>A (p.Met399Ile) | |
| 11 | g.66850377A>C | CA381492701 | PC | c.2561T>G (p.Met854Arg) n.290-312T>G c.*570T>G (n.*570T>G) c.*1037T>G (n.*1037T>G) c.1040T>G (p.Met347Arg) c.1265T>G (p.Met422Arg) c.1196T>G (p.Met399Arg) | |
| 11 | g.66850377A>G | CA381492699 | PC | c.2561T>C (p.Met854Thr) n.290-312T>C c.*570T>C (n.*570T>C) c.*1037T>C (n.*1037T>C) c.1040T>C (p.Met347Thr) c.1265T>C (p.Met422Thr) c.1196T>C (p.Met399Thr) | |
| 11 | g.66850377A>T | CA381492700 | PC | c.2561T>A (p.Met854Lys) n.290-312T>A c.*570T>A (n.*570T>A) c.*1037T>A (n.*1037T>A) c.1040T>A (p.Met347Lys) c.1265T>A (p.Met422Lys) c.1196T>A (p.Met399Lys) | |
| 11 | g.66850378T>A | CA381492702 | PC | c.2560A>T (p.Met854Leu) n.290-313A>T c.*569A>T (n.*569A>T) c.*1036A>T (n.*1036A>T) c.1039A>T (p.Met347Leu) c.1264A>T (p.Met422Leu) c.1195A>T (p.Met399Leu) | |
| 11 | g.66850378T>C | CA381492703 | PC | c.2560A>G (p.Met854Val) n.290-313A>G c.*569A>G (n.*569A>G) c.*1036A>G (n.*1036A>G) c.1039A>G (p.Met347Val) c.1264A>G (p.Met422Val) c.1195A>G (p.Met399Val) | COSMIC |
| 11 | g.66850378T>G | CA381492704 | PC | c.2560A>C (p.Met854Leu) n.290-313A>C c.*569A>C (n.*569A>C) c.*1036A>C (n.*1036A>C) c.1039A>C (p.Met347Leu) c.1264A>C (p.Met422Leu) c.1195A>C (p.Met399Leu) | |
| 11 | g.66850379G>A | CA475500784 | PC | c.2559C>T (p.Thr853=) n.290-314C>T c.*568C>T (n.*568C>T) c.*1035C>T (n.*1035C>T) c.1038C>T (p.Thr346=) c.1263C>T (p.Thr421=) c.1194C>T (p.Thr398=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850379G>C | CA475500785 | PC | c.2559C>G (p.Thr853=) n.290-314C>G c.*568C>G (n.*568C>G) c.*1035C>G (n.*1035C>G) c.1038C>G (p.Thr346=) c.1263C>G (p.Thr421=) c.1194C>G (p.Thr398=) | |
| 11 | g.66850379G= | CA1979879510 | PC | c.2559C= (p.Thr853=) n.290-314C= c.*568C= (n.*568C=) c.*1035C= (n.*1035C=) c.1038C= (p.Thr346=) c.1263C= (p.Thr421=) c.1194C= (p.Thr398=) | |
| 11 | g.66850379G>T | CA475500786 | PC | c.2559C>A (p.Thr853=) n.290-314C>A c.*568C>A (n.*568C>A) c.*1035C>A (n.*1035C>A) c.1038C>A (p.Thr346=) c.1263C>A (p.Thr421=) c.1194C>A (p.Thr398=) | ClinVar dbSNP |
| 11 | g.66850380G>A | CA381492705 | PC | c.2558C>T (p.Thr853Ile) n.290-315C>T c.*567C>T (n.*567C>T) c.*1034C>T (n.*1034C>T) c.1037C>T (p.Thr346Ile) c.1262C>T (p.Thr421Ile) c.1193C>T (p.Thr398Ile) | dbSNP |
| 11 | g.66850380G>C | CA381492706 | PC | c.2558C>G (p.Thr853Ser) n.290-315C>G c.*567C>G (n.*567C>G) c.*1034C>G (n.*1034C>G) c.1037C>G (p.Thr346Ser) c.1262C>G (p.Thr421Ser) c.1193C>G (p.Thr398Ser) | |
| 11 | g.66850380G= | CA1979879513 | PC | c.2558C= (p.Thr853=) n.290-315C= c.*567C= (n.*567C=) c.*1034C= (n.*1034C=) c.1037C= (p.Thr346=) c.1262C= (p.Thr421=) c.1193C= (p.Thr398=) | |
| 11 | g.66850380G>T | CA381492707 | PC | c.2558C>A (p.Thr853Asn) n.290-315C>A c.*567C>A (n.*567C>A) c.*1034C>A (n.*1034C>A) c.1037C>A (p.Thr346Asn) c.1262C>A (p.Thr421Asn) c.1193C>A (p.Thr398Asn) | |
| 11 | g.66850381T>A | CA381492708 | PC | c.2557A>T (p.Thr853Ser) n.290-316A>T c.*566A>T (n.*566A>T) c.*1033A>T (n.*1033A>T) c.1036A>T (p.Thr346Ser) c.1261A>T (p.Thr421Ser) c.1192A>T (p.Thr398Ser) | gnomAD v4 |
| 11 | g.66850381T>C | CA381492709 | PC | c.2557A>G (p.Thr853Ala) n.290-316A>G c.*566A>G (n.*566A>G) c.*1033A>G (n.*1033A>G) c.1036A>G (p.Thr346Ala) c.1261A>G (p.Thr421Ala) c.1192A>G (p.Thr398Ala) | |
| 11 | g.66850381T>G | CA381492710 | PC | c.2557A>C (p.Thr853Pro) n.290-316A>C c.*566A>C (n.*566A>C) c.*1033A>C (n.*1033A>C) c.1036A>C (p.Thr346Pro) c.1261A>C (p.Thr421Pro) c.1192A>C (p.Thr398Pro) | |
| 11 | g.66850382G>A | CA475500787 | PC | c.2556C>T (p.Ala852=) n.290-317C>T c.*565C>T (n.*565C>T) c.*1032C>T (n.*1032C>T) c.1035C>T (p.Ala345=) c.1260C>T (p.Ala420=) c.1191C>T (p.Ala397=) | dbSNP |
| 11 | g.66850382G>C | CA475500789 | PC | c.2556C>G (p.Ala852=) n.290-317C>G c.*565C>G (n.*565C>G) c.*1032C>G (n.*1032C>G) c.1035C>G (p.Ala345=) c.1260C>G (p.Ala420=) c.1191C>G (p.Ala397=) | |
| 11 | g.66850382G= | CA1979879514 | PC | c.2556C= (p.Ala852=) n.290-317C= c.*565C= (n.*565C=) c.*1032C= (n.*1032C=) c.1035C= (p.Ala345=) c.1260C= (p.Ala420=) c.1191C= (p.Ala397=) | |
| 11 | g.66850382G>T | CA475500788 | PC | c.2556C>A (p.Ala852=) n.290-317C>A c.*565C>A (n.*565C>A) c.*1032C>A (n.*1032C>A) c.1035C>A (p.Ala345=) c.1260C>A (p.Ala420=) c.1191C>A (p.Ala397=) | |
| 11 | g.66850383G>A | CA381492711 | PC | c.2555C>T (p.Ala852Val) n.290-318C>T c.*564C>T (n.*564C>T) c.*1031C>T (n.*1031C>T) c.1034C>T (p.Ala345Val) c.1259C>T (p.Ala420Val) c.1190C>T (p.Ala397Val) | |
| 11 | g.66850383G>C | CA381492712 | PC | c.2555C>G (p.Ala852Gly) n.290-318C>G c.*564C>G (n.*564C>G) c.*1031C>G (n.*1031C>G) c.1034C>G (p.Ala345Gly) c.1259C>G (p.Ala420Gly) c.1190C>G (p.Ala397Gly) | |
| 11 | g.66850383G>T | CA381492713 | PC | c.2555C>A (p.Ala852Asp) n.290-318C>A c.*564C>A (n.*564C>A) c.*1031C>A (n.*1031C>A) c.1034C>A (p.Ala345Asp) c.1259C>A (p.Ala420Asp) c.1190C>A (p.Ala397Asp) | |
| 11 | g.66850384C>A | CA381492714 | PC | c.2554G>T (p.Ala852Ser) n.290-319G>T c.*563G>T (n.*563G>T) c.*1030G>T (n.*1030G>T) c.1033G>T (p.Ala345Ser) c.1258G>T (p.Ala420Ser) c.1189G>T (p.Ala397Ser) | |
| 11 | g.66850384C>G | CA381492716 | PC | c.2554G>C (p.Ala852Pro) n.290-319G>C c.*563G>C (n.*563G>C) c.*1030G>C (n.*1030G>C) c.1033G>C (p.Ala345Pro) c.1258G>C (p.Ala420Pro) c.1189G>C (p.Ala397Pro) | dbSNP |
| 11 | g.66850384C>T | CA381492715 | PC | c.2554G>A (p.Ala852Thr) n.290-319G>A c.*563G>A (n.*563G>A) c.*1030G>A (n.*1030G>A) c.1033G>A (p.Ala345Thr) c.1258G>A (p.Ala420Thr) c.1189G>A (p.Ala397Thr) | dbSNP |
| 11 | g.66850385C>A | CA475500790 | PC | c.2553G>T (p.Thr851=) n.290-320G>T c.*562G>T (n.*562G>T) c.*1029G>T (n.*1029G>T) c.1032G>T (p.Thr344=) c.1257G>T (p.Thr419=) c.1188G>T (p.Thr396=) | dbSNP |
| 11 | g.66850385C= | CA1979879516 | PC | c.2553G= (p.Thr851=) n.290-320G= c.*562G= (n.*562G=) c.*1029G= (n.*1029G=) c.1032G= (p.Thr344=) c.1257G= (p.Thr419=) c.1188G= (p.Thr396=) | |
| 11 | g.66850385C>G | CA475500791 | PC | c.2553G>C (p.Thr851=) n.290-320G>C c.*562G>C (n.*562G>C) c.*1029G>C (n.*1029G>C) c.1032G>C (p.Thr344=) c.1257G>C (p.Thr419=) c.1188G>C (p.Thr396=) | |
| 11 | g.66850385C>T | CA6131035 | PC | c.2553G>A (p.Thr851=) n.290-320G>A c.*562G>A (n.*562G>A) c.*1029G>A (n.*1029G>A) c.1032G>A (p.Thr344=) c.1257G>A (p.Thr419=) c.1188G>A (p.Thr396=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850386G>A | CA381492717 | PC | c.2552C>T (p.Thr851Met) n.290-321C>T c.*561C>T (n.*561C>T) c.*1028C>T (n.*1028C>T) c.1031C>T (p.Thr344Met) c.1256C>T (p.Thr419Met) c.1187C>T (p.Thr396Met) | dbSNP gnomAD v4 |
| 11 | g.66850386G>C | CA381492718 | PC | c.2552C>G (p.Thr851Arg) n.290-321C>G c.*561C>G (n.*561C>G) c.*1028C>G (n.*1028C>G) c.1031C>G (p.Thr344Arg) c.1256C>G (p.Thr419Arg) c.1187C>G (p.Thr396Arg) | dbSNP |
| 11 | g.66850386G>T | CA381492719 | PC | c.2552C>A (p.Thr851Lys) n.290-321C>A c.*561C>A (n.*561C>A) c.*1028C>A (n.*1028C>A) c.1031C>A (p.Thr344Lys) c.1256C>A (p.Thr419Lys) c.1187C>A (p.Thr396Lys) | gnomAD v4 |
| 11 | g.66850387T>A | CA381492720 | PC | c.2551A>T (p.Thr851Ser) n.290-322A>T c.*560A>T (n.*560A>T) c.*1027A>T (n.*1027A>T) c.1030A>T (p.Thr344Ser) c.1255A>T (p.Thr419Ser) c.1186A>T (p.Thr396Ser) | |
| 11 | g.66850387T>C | CA6131036 | PC | c.2551A>G (p.Thr851Ala) n.290-322A>G c.*560A>G (n.*560A>G) c.*1027A>G (n.*1027A>G) c.1030A>G (p.Thr344Ala) c.1255A>G (p.Thr419Ala) c.1186A>G (p.Thr396Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850387T>G | CA381492721 | PC | c.2551A>C (p.Thr851Pro) n.290-322A>C c.*560A>C (n.*560A>C) c.*1027A>C (n.*1027A>C) c.1030A>C (p.Thr344Pro) c.1255A>C (p.Thr419Pro) c.1186A>C (p.Thr396Pro) | |
| 11 | g.66850387T= | CA1979879519 | PC | c.2551A= (p.Thr851=) n.290-322A= c.*560A= (n.*560A=) c.*1027A= (n.*1027A=) c.1030A= (p.Thr344=) c.1255A= (p.Thr419=) c.1186A= (p.Thr396=) | |
| 11 | g.66850388G>A | CA292675 | PC | c.2550C>T (p.Cys850=) n.290-323C>T c.*559C>T (n.*559C>T) c.*1026C>T (n.*1026C>T) c.1029C>T (p.Cys343=) c.1254C>T (p.Cys418=) c.1185C>T (p.Cys395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850388G>C | CA381492722 | PC | c.2550C>G (p.Cys850Trp) n.290-323C>G c.*559C>G (n.*559C>G) c.*1026C>G (n.*1026C>G) c.1029C>G (p.Cys343Trp) c.1254C>G (p.Cys418Trp) c.1185C>G (p.Cys395Trp) | |
| 11 | g.66850388G= | CA1979879524 | PC | c.2550C= (p.Cys850=) n.290-323C= c.*559C= (n.*559C=) c.*1026C= (n.*1026C=) c.1029C= (p.Cys343=) c.1254C= (p.Cys418=) c.1185C= (p.Cys395=) | |
| 11 | g.66850388G>T | CA381492723 | PC | c.2550C>A (p.Cys850Ter) n.290-323C>A c.*559C>A (n.*559C>A) c.*1026C>A (n.*1026C>A) c.1029C>A (p.Cys343Ter) c.1254C>A (p.Cys418Ter) c.1185C>A (p.Cys395Ter) | |
| 11 | g.66850389C>A | CA381492724 | PC | c.2549G>T (p.Cys850Phe) n.290-324G>T c.*558G>T (n.*558G>T) c.*1025G>T (n.*1025G>T) c.1028G>T (p.Cys343Phe) c.1253G>T (p.Cys418Phe) c.1184G>T (p.Cys395Phe) | |
| 11 | g.66850389C= | CA1979879528 | PC | c.2549G= (p.Cys850=) n.290-324G= c.*558G= (n.*558G=) c.*1025G= (n.*1025G=) c.1028G= (p.Cys343=) c.1253G= (p.Cys418=) c.1184G= (p.Cys395=) | |
| 11 | g.66850389C>G | CA381492725 | PC | c.2549G>C (p.Cys850Ser) n.290-324G>C c.*558G>C (n.*558G>C) c.*1025G>C (n.*1025G>C) c.1028G>C (p.Cys343Ser) c.1253G>C (p.Cys418Ser) c.1184G>C (p.Cys395Ser) | |
| 11 | g.66850389C>T | CA224122598 | PC | c.2549G>A (p.Cys850Tyr) n.290-324G>A c.*558G>A (n.*558G>A) c.*1025G>A (n.*1025G>A) c.1028G>A (p.Cys343Tyr) c.1253G>A (p.Cys418Tyr) c.1184G>A (p.Cys395Tyr) | ClinVar dbSNP |
| 11 | g.66850394_66850410del | CA2574890788 | PC | c.2533_2549del (p.Tyr845HisfsTer13) n.290-340_290-324del c.*542_*558del (n.*542_*558del) c.*1009_*1025del (n.*1009_*1025del) c.1012_1028del (p.Tyr338HisfsTer13) c.1237_1253del (p.Tyr413HisfsTer13) c.1168_1184del (p.Tyr390HisfsTer13) | |
| 11 | g.66850390A= | CA1979879533 | PC | c.2548T= (p.Cys850=) n.290-325T= c.*557T= (n.*557T=) c.*1024T= (n.*1024T=) c.1027T= (p.Cys343=) c.1252T= (p.Cys418=) c.1183T= (p.Cys395=) | |
| 11 | g.66850390A>C | CA6131037 | PC | c.2548T>G (p.Cys850Gly) n.290-325T>G c.*557T>G (n.*557T>G) c.*1024T>G (n.*1024T>G) c.1027T>G (p.Cys343Gly) c.1252T>G (p.Cys418Gly) c.1183T>G (p.Cys395Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850390A>G | CA381492727 | PC | c.2548T>C (p.Cys850Arg) n.290-325T>C c.*557T>C (n.*557T>C) c.*1024T>C (n.*1024T>C) c.1027T>C (p.Cys343Arg) c.1252T>C (p.Cys418Arg) c.1183T>C (p.Cys395Arg) | |
| 11 | g.66850390A>T | CA381492726 | PC | c.2548T>A (p.Cys850Ser) n.290-325T>A c.*557T>A (n.*557T>A) c.*1024T>A (n.*1024T>A) c.1027T>A (p.Cys343Ser) c.1252T>A (p.Cys418Ser) c.1183T>A (p.Cys395Ser) | |
| 11 | g.66850391G>A | CA475500792 | PC | c.2547C>T (p.Asp849=) n.290-326C>T c.*556C>T (n.*556C>T) c.*1023C>T (n.*1023C>T) c.1026C>T (p.Asp342=) c.1251C>T (p.Asp417=) c.1182C>T (p.Asp394=) | dbSNP |
| 11 | g.66850391G>C | CA381492728 | PC | c.2547C>G (p.Asp849Glu) n.290-326C>G c.*556C>G (n.*556C>G) c.*1023C>G (n.*1023C>G) c.1026C>G (p.Asp342Glu) c.1251C>G (p.Asp417Glu) c.1182C>G (p.Asp394Glu) | dbSNP gnomAD v4 |
| 11 | g.66850391G= | CA1979879537 | PC | c.2547C= (p.Asp849=) n.290-326C= c.*556C= (n.*556C=) c.*1023C= (n.*1023C=) c.1026C= (p.Asp342=) c.1251C= (p.Asp417=) c.1182C= (p.Asp394=) | |
| 11 | g.66850391G>T | CA381492729 | PC | c.2547C>A (p.Asp849Glu) n.290-326C>A c.*556C>A (n.*556C>A) c.*1023C>A (n.*1023C>A) c.1026C>A (p.Asp342Glu) c.1251C>A (p.Asp417Glu) c.1182C>A (p.Asp394Glu) | |
| 11 | g.66850392T>A | CA381492730 | PC | c.2546A>T (p.Asp849Val) n.290-327A>T c.*555A>T (n.*555A>T) c.*1022A>T (n.*1022A>T) c.1025A>T (p.Asp342Val) c.1250A>T (p.Asp417Val) c.1181A>T (p.Asp394Val) | |
| 11 | g.66850392T>C | CA381492731 | PC | c.2546A>G (p.Asp849Gly) n.290-327A>G c.*555A>G (n.*555A>G) c.*1022A>G (n.*1022A>G) c.1025A>G (p.Asp342Gly) c.1250A>G (p.Asp417Gly) c.1181A>G (p.Asp394Gly) | |
| 11 | g.66850392T>G | CA381492732 | PC | c.2546A>C (p.Asp849Ala) n.290-327A>C c.*555A>C (n.*555A>C) c.*1022A>C (n.*1022A>C) c.1025A>C (p.Asp342Ala) c.1250A>C (p.Asp417Ala) c.1181A>C (p.Asp394Ala) | |
| 11 | g.66850393C>A | CA381492733 | PC | c.2545G>T (p.Asp849Tyr) n.290-328G>T c.*554G>T (n.*554G>T) c.*1021G>T (n.*1021G>T) c.1024G>T (p.Asp342Tyr) c.1249G>T (p.Asp417Tyr) c.1180G>T (p.Asp394Tyr) | |
| 11 | g.66850393C= | CA1979879541 | PC | c.2545G= (p.Asp849=) n.290-328G= c.*554G= (n.*554G=) c.*1021G= (n.*1021G=) c.1024G= (p.Asp342=) c.1249G= (p.Asp417=) c.1180G= (p.Asp394=) | |
| 11 | g.66850393C>G | CA381492734 | PC | c.2545G>C (p.Asp849His) n.290-328G>C c.*554G>C (n.*554G>C) c.*1021G>C (n.*1021G>C) c.1024G>C (p.Asp342His) c.1249G>C (p.Asp417His) c.1180G>C (p.Asp394His) | gnomAD v4 |
| 11 | g.66850393C>T | CA381492735 | PC | c.2545G>A (p.Asp849Asn) n.290-328G>A c.*554G>A (n.*554G>A) c.*1021G>A (n.*1021G>A) c.1024G>A (p.Asp342Asn) c.1249G>A (p.Asp417Asn) c.1180G>A (p.Asp394Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850394G>A | CA475500793 | PC | c.2544C>T (p.Phe848=) n.290-329C>T c.*553C>T (n.*553C>T) c.*1020C>T (n.*1020C>T) c.1023C>T (p.Phe341=) c.1248C>T (p.Phe416=) c.1179C>T (p.Phe393=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850394G>C | CA381492736 | PC | c.2544C>G (p.Phe848Leu) n.290-329C>G c.*553C>G (n.*553C>G) c.*1020C>G (n.*1020C>G) c.1023C>G (p.Phe341Leu) c.1248C>G (p.Phe416Leu) c.1179C>G (p.Phe393Leu) | ClinVar dbSNP |
| 11 | g.66850394G= | CA1979879543 | PC | c.2544C= (p.Phe848=) n.290-329C= c.*553C= (n.*553C=) c.*1020C= (n.*1020C=) c.1023C= (p.Phe341=) c.1248C= (p.Phe416=) c.1179C= (p.Phe393=) | |
| 11 | g.66850394G>T | CA381492737 | PC | c.2544C>A (p.Phe848Leu) n.290-329C>A c.*553C>A (n.*553C>A) c.*1020C>A (n.*1020C>A) c.1023C>A (p.Phe341Leu) c.1248C>A (p.Phe416Leu) c.1179C>A (p.Phe393Leu) | |
| 11 | g.66850395A>C | CA381492740 | PC | c.2543T>G (p.Phe848Cys) n.290-330T>G c.*552T>G (n.*552T>G) c.*1019T>G (n.*1019T>G) c.1022T>G (p.Phe341Cys) c.1247T>G (p.Phe416Cys) c.1178T>G (p.Phe393Cys) | |
| 11 | g.66850395A>G | CA381492739 | PC | c.2543T>C (p.Phe848Ser) n.290-330T>C c.*552T>C (n.*552T>C) c.*1019T>C (n.*1019T>C) c.1022T>C (p.Phe341Ser) c.1247T>C (p.Phe416Ser) c.1178T>C (p.Phe393Ser) | |
| 11 | g.66850395A>T | CA381492738 | PC | c.2543T>A (p.Phe848Tyr) n.290-330T>A c.*552T>A (n.*552T>A) c.*1019T>A (n.*1019T>A) c.1022T>A (p.Phe341Tyr) c.1247T>A (p.Phe416Tyr) c.1178T>A (p.Phe393Tyr) | |
| 11 | g.66850396A>C | CA381492741 | PC | c.2542T>G (p.Phe848Val) n.290-331T>G c.*551T>G (n.*551T>G) c.*1018T>G (n.*1018T>G) c.1021T>G (p.Phe341Val) c.1246T>G (p.Phe416Val) c.1177T>G (p.Phe393Val) | |
| 11 | g.66850396A>G | CA381492742 | PC | c.2542T>C (p.Phe848Leu) n.290-331T>C c.*551T>C (n.*551T>C) c.*1018T>C (n.*1018T>C) c.1021T>C (p.Phe341Leu) c.1246T>C (p.Phe416Leu) c.1177T>C (p.Phe393Leu) | |
| 11 | g.66850396A>T | CA381492743 | PC | c.2542T>A (p.Phe848Ile) n.290-331T>A c.*551T>A (n.*551T>A) c.*1018T>A (n.*1018T>A) c.1021T>A (p.Phe341Ile) c.1246T>A (p.Phe416Ile) c.1177T>A (p.Phe393Ile) | |
| 11 | g.66850397G>A | CA475500794 | PC | c.2541C>T (p.Ala847=) n.290-332C>T c.*550C>T (n.*550C>T) c.*1017C>T (n.*1017C>T) c.1020C>T (p.Ala340=) c.1245C>T (p.Ala415=) c.1176C>T (p.Ala392=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850397G>C | CA475500795 | PC | c.2541C>G (p.Ala847=) n.290-332C>G c.*550C>G (n.*550C>G) c.*1017C>G (n.*1017C>G) c.1020C>G (p.Ala340=) c.1245C>G (p.Ala415=) c.1176C>G (p.Ala392=) | |
| 11 | g.66850397G= | CA1979879547 | PC | c.2541C= (p.Ala847=) n.290-332C= c.*550C= (n.*550C=) c.*1017C= (n.*1017C=) c.1020C= (p.Ala340=) c.1245C= (p.Ala415=) c.1176C= (p.Ala392=) | |
| 11 | g.66850397G>T | CA475500796 | PC | c.2541C>A (p.Ala847=) n.290-332C>A c.*550C>A (n.*550C>A) c.*1017C>A (n.*1017C>A) c.1020C>A (p.Ala340=) c.1245C>A (p.Ala415=) c.1176C>A (p.Ala392=) | gnomAD v4 |
| 11 | g.66850398G>A | CA341765 | PC | c.2540C>T (p.Ala847Val) n.290-333C>T c.*549C>T (n.*549C>T) c.*1016C>T (n.*1016C>T) c.1019C>T (p.Ala340Val) c.1244C>T (p.Ala415Val) c.1175C>T (p.Ala392Val) | dbSNP |
| 11 | g.66850398G>C | CA381492744 | PC | c.2540C>G (p.Ala847Gly) n.290-333C>G c.*549C>G (n.*549C>G) c.*1016C>G (n.*1016C>G) c.1019C>G (p.Ala340Gly) c.1244C>G (p.Ala415Gly) c.1175C>G (p.Ala392Gly) | |
| 11 | g.66850398G= | CA1979879554 | PC | c.2540C= (p.Ala847=) n.290-333C= c.*549C= (n.*549C=) c.*1016C= (n.*1016C=) c.1019C= (p.Ala340=) c.1244C= (p.Ala415=) c.1175C= (p.Ala392=) | |
| 11 | g.66850398G>T | CA381492745 | PC | c.2540C>A (p.Ala847Asp) n.290-333C>A c.*549C>A (n.*549C>A) c.*1016C>A (n.*1016C>A) c.1019C>A (p.Ala340Asp) c.1244C>A (p.Ala415Asp) c.1175C>A (p.Ala392Asp) |