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 |
|---|---|---|---|---|---|
| 13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32378158_32383530del | CA2580087446 | BRCA2 | c.8755-1159_9256+3385del c.*122-1159_*623+3385del c.8386-1159_8887+3385del c.*317-1159_*818+3385del c.8755-1159_9257-363del c.8755-1159_9205+3385del c.1222-1159_1672+3385del n.882-1159_1383+3385del c.8763-1159_9264+3385del c.1633-1159_2134+3385del c.8659-1159_9160+3385del | ClinVar |
| 13 | g.32378942_32380826del | CA10602552 | BRCA2 | c.8755-375_9256+681del c.*122-375_*623+681del c.8386-375_8887+681del c.*317-375_*818+681del c.8755-375_9205+681del c.1222-375_1672+681del n.882-375_1383+681del c.8763-375_9264+681del c.1633-375_2134+681del c.8659-375_9160+681del | ClinVar |
| 13 | g.32380120_32380123delinsTGTC | CA2082841032 | BRCA2 | c.9231_9234delinsTGTC (p.Phe3077=) c.*598_*601delinsTGTC (n.*598_*601delinsTGTC) c.8862_8865delinsTGTC (p.Phe2954=) c.*793_*796delinsTGTC (n.*793_*796delinsTGTC) c.9180_9183delinsTGTC (p.Phe3060=) c.1647_1650delinsTGTC (p.Phe549=) n.1358_1361delinsTGTC c.9239_9242delinsTGTC (n.9239_9242delinsTGTC) c.2109_2112delinsTGTC c.114_117delinsTGTC (p.Phe38=) c.188_191delinsTGTC c.9135_9138delinsTGTC (p.Phe3045=) | |
| 13 | g.32380121_32380122delinsGT | CA2082841039 | BRCA2 | c.9232_9233delinsGT (p.Val3078=) c.*599_*600delinsGT (n.*599_*600delinsGT) c.8863_8864delinsGT (p.Val2955=) c.*794_*795delinsGT (n.*794_*795delinsGT) c.9181_9182delinsGT (p.Val3061=) c.1648_1649delinsGT (p.Val550=) n.1359_1360delinsGT c.9240_9241delinsGT (n.9240_9241delinsGT) c.2110_2111delinsGT c.115_116delinsGT (p.Val39=) c.189_190delinsGT c.9136_9137delinsGT (p.Val3046=) | |
| 13 | g.32380123_32380125del | CA1139663171 | BRCA2 | c.9234_9236del (p.Val3079del) c.*601_*603del (n.*601_*603del) c.8865_8867del (p.Val2956del) c.*796_*798del (n.*796_*798del) c.9183_9185del (p.Val3062del) c.1650_1652del (p.Val551del) n.1361_1363del c.9242_9244del (n.9242_9244del) c.2112_2114del c.117_119del (p.Val40del) c.191_193del c.9138_9140del (p.Val3047del) | ClinVar dbSNP |
| 13 | g.32380122del | CA10579820 | BRCA2 | c.9233del (p.Val3078AlafsTer5) c.*600del (n.*600del) c.8864del (p.Val2955AlafsTer5) c.*795del (n.*795del) c.9182del (p.Val3061AlafsTer5) c.1649del (p.Val550AlafsTer5) n.1360del c.9241del (n.9241del) c.2111del c.116del (p.Val39AlafsTer5) c.190del c.9137del (p.Val3046AlafsTer5) | ClinVar dbSNP |
| 13 | g.32380122T>A | CA387758555 | BRCA2 | c.9233T>A (p.Val3078Asp) c.*600T>A (n.*600T>A) c.8864T>A (p.Val2955Asp) c.*795T>A (n.*795T>A) c.9182T>A (p.Val3061Asp) c.1649T>A (p.Val550Asp) n.1360T>A c.9241T>A (n.9241T>A) c.2111T>A c.116T>A (p.Val39Asp) c.190T>A c.9137T>A (p.Val3046Asp) | dbSNP |
| 13 | g.32380122T>C | CA387758558 | BRCA2 | c.9233T>C (p.Val3078Ala) c.*600T>C (n.*600T>C) c.8864T>C (p.Val2955Ala) c.*795T>C (n.*795T>C) c.9182T>C (p.Val3061Ala) c.1649T>C (p.Val550Ala) n.1360T>C c.9241T>C (n.9241T>C) c.2111T>C c.116T>C (p.Val39Ala) c.190T>C c.9137T>C (p.Val3046Ala) | dbSNP |
| 13 | g.32380122T>G | CA387758568 | BRCA2 | c.9233T>G (p.Val3078Gly) c.*600T>G (n.*600T>G) c.8864T>G (p.Val2955Gly) c.*795T>G (n.*795T>G) c.9182T>G (p.Val3061Gly) c.1649T>G (p.Val550Gly) n.1360T>G c.9241T>G (n.9241T>G) c.2111T>G c.116T>G (p.Val39Gly) c.190T>G c.9137T>G (p.Val3046Gly) | |
| 13 | g.32380123C>A | CA483262128 | BRCA2 | c.9234C>A (p.Val3078=) c.*601C>A (n.*601C>A) c.8865C>A (p.Val2955=) c.*796C>A (n.*796C>A) c.9183C>A (p.Val3061=) c.1650C>A (p.Val550=) n.1361C>A c.9242C>A (n.9242C>A) c.2112C>A c.117C>A (p.Val39=) c.191C>A c.9138C>A (p.Val3046=) | dbSNP gnomAD v4 |
| 13 | g.32380123C= | CA2082841061 | BRCA2 | c.9234C= (p.Val3078=) c.*601C= (n.*601C=) c.8865C= (p.Val2955=) c.*796C= (n.*796C=) c.9183C= (p.Val3061=) c.1650C= (p.Val550=) n.1361C= c.9242C= (n.9242C=) c.2112C= c.117C= (p.Val39=) c.191C= c.9138C= (p.Val3046=) | |
| 13 | g.32380123C>G | CA483262129 | BRCA2 | c.9234C>G (p.Val3078=) c.*601C>G (n.*601C>G) c.8865C>G (p.Val2955=) c.*796C>G (n.*796C>G) c.9183C>G (p.Val3061=) c.1650C>G (p.Val550=) n.1361C>G c.9242C>G (n.9242C>G) c.2112C>G c.117C>G (p.Val39=) c.191C>G c.9138C>G (p.Val3046=) | ClinVar dbSNP |
| 13 | g.32380123C>T | CA026042 | BRCA2 | c.9234C>T (p.Val3078=) c.*601C>T (n.*601C>T) c.8865C>T (p.Val2955=) c.*796C>T (n.*796C>T) c.9183C>T (p.Val3061=) c.1650C>T (p.Val550=) n.1361C>T c.9242C>T (n.9242C>T) c.2112C>T c.117C>T (p.Val39=) c.191C>T c.9138C>T (p.Val3046=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380123_32380124delinsCG | CA2082841060 | BRCA2 | c.9234_9235delinsCG (p.Val3078=) c.*601_*602delinsCG (n.*601_*602delinsCG) c.8865_8866delinsCG (p.Val2955=) c.*796_*797delinsCG (n.*796_*797delinsCG) c.9183_9184delinsCG (p.Val3061=) c.1650_1651delinsCG (p.Val550=) n.1361_1362delinsCG c.9242_9243delinsCG (n.9242_9243delinsCG) c.2112_2113delinsCG c.117_118delinsCG (p.Val39=) c.191_192delinsCG c.9138_9139delinsCG (p.Val3046=) | |
| 13 | g.32380124del | CA026043 | BRCA2 | c.9235del (p.Val3079PhefsTer4) c.*602del (n.*602del) c.8866del (p.Val2956PhefsTer4) c.*797del (n.*797del) c.9184del (p.Val3062PhefsTer4) c.1651del (p.Val551PhefsTer4) n.1362del c.9243del (n.9243del) c.2113del c.118del (p.Val40PhefsTer4) c.192del c.9139del (p.Val3047PhefsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380124G>A | CA026044 | BRCA2 | c.9235G>A (p.Val3079Ile) c.*602G>A (n.*602G>A) c.8866G>A (p.Val2956Ile) c.*797G>A (n.*797G>A) c.9184G>A (p.Val3062Ile) c.1651G>A (p.Val551Ile) n.1362G>A c.9243G>A (n.9243G>A) c.2113G>A c.118G>A (p.Val40Ile) c.192G>A c.9139G>A (p.Val3047Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380124G>C | CA387758582 | BRCA2 | c.9235G>C (p.Val3079Leu) c.*602G>C (n.*602G>C) c.8866G>C (p.Val2956Leu) c.*797G>C (n.*797G>C) c.9184G>C (p.Val3062Leu) c.1651G>C (p.Val551Leu) n.1362G>C c.9243G>C (n.9243G>C) c.2113G>C c.118G>C (p.Val40Leu) c.192G>C c.9139G>C (p.Val3047Leu) | ClinVar dbSNP |
| 13 | g.32380124G= | CA2082841077 | BRCA2 | c.9235G= (p.Val3079=) c.*602G= (n.*602G=) c.8866G= (p.Val2956=) c.*797G= (n.*797G=) c.9184G= (p.Val3062=) c.1651G= (p.Val551=) n.1362G= c.9243G= (n.9243G=) c.2113G= c.118G= (p.Val40=) c.192G= c.9139G= (p.Val3047=) | |
| 13 | g.32380124G>T | CA247495088 | BRCA2 | c.9235G>T (p.Val3079Phe) c.*602G>T (n.*602G>T) c.8866G>T (p.Val2956Phe) c.*797G>T (n.*797G>T) c.9184G>T (p.Val3062Phe) c.1651G>T (p.Val551Phe) n.1362G>T c.9243G>T (n.9243G>T) c.2113G>T c.118G>T (p.Val40Phe) c.192G>T c.9139G>T (p.Val3047Phe) | ClinVar dbSNP |
| 13 | g.32380125T>A | CA387758586 | BRCA2 | c.9236T>A (p.Val3079Asp) c.*603T>A (n.*603T>A) c.8867T>A (p.Val2956Asp) c.*798T>A (n.*798T>A) c.9185T>A (p.Val3062Asp) c.1652T>A (p.Val551Asp) n.1363T>A c.9244T>A (n.9244T>A) c.2114T>A c.119T>A (p.Val40Asp) c.193T>A c.9140T>A (p.Val3047Asp) | dbSNP |
| 13 | g.32380125T>C | CA387758587 | BRCA2 | c.9236T>C (p.Val3079Ala) c.*603T>C (n.*603T>C) c.8867T>C (p.Val2956Ala) c.*798T>C (n.*798T>C) c.9185T>C (p.Val3062Ala) c.1652T>C (p.Val551Ala) n.1363T>C c.9244T>C (n.9244T>C) c.2114T>C c.119T>C (p.Val40Ala) c.193T>C c.9140T>C (p.Val3047Ala) | |
| 13 | g.32380125T>G | CA387758589 | BRCA2 | c.9236T>G (p.Val3079Gly) c.*603T>G (n.*603T>G) c.8867T>G (p.Val2956Gly) c.*798T>G (n.*798T>G) c.9185T>G (p.Val3062Gly) c.1652T>G (p.Val551Gly) n.1363T>G c.9244T>G (n.9244T>G) c.2114T>G c.119T>G (p.Val40Gly) c.193T>G c.9140T>G (p.Val3047Gly) | |
| 13 | g.32380127del | CA2695217964 | BRCA2 | c.9238del (p.Ser3080LeufsTer3) c.*605del (n.*605del) c.8869del (p.Ser2957LeufsTer3) c.*800del (n.*800del) c.9187del (p.Ser3063LeufsTer3) c.1654del (p.Ser552LeufsTer3) n.1365del c.9246del (n.9246del) c.2116del c.121del (p.Ser41LeufsTer3) c.195del c.9142del (p.Ser3048LeufsTer3) | |
| 13 | g.32380126T>A | CA483262132 | BRCA2 | c.9237T>A (p.Val3079=) c.*604T>A (n.*604T>A) c.8868T>A (p.Val2956=) c.*799T>A (n.*799T>A) c.9186T>A (p.Val3062=) c.1653T>A (p.Val551=) n.1364T>A c.9245T>A (n.9245T>A) c.2115T>A c.120T>A (p.Val40=) c.194T>A c.9141T>A (p.Val3047=) | dbSNP |
| 13 | g.32380126T>C | CA026045 | BRCA2 | c.9237T>C (p.Val3079=) c.*604T>C (n.*604T>C) c.8868T>C (p.Val2956=) c.*799T>C (n.*799T>C) c.9186T>C (p.Val3062=) c.1653T>C (p.Val551=) n.1364T>C c.9245T>C (n.9245T>C) c.2115T>C c.120T>C (p.Val40=) c.194T>C c.9141T>C (p.Val3047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380126T>G | CA483262133 | BRCA2 | c.9237T>G (p.Val3079=) c.*604T>G (n.*604T>G) c.8868T>G (p.Val2956=) c.*799T>G (n.*799T>G) c.9186T>G (p.Val3062=) c.1653T>G (p.Val551=) n.1364T>G c.9245T>G (n.9245T>G) c.2115T>G c.120T>G (p.Val40=) c.194T>G c.9141T>G (p.Val3047=) | ClinVar |
| 13 | g.32380126T= | CA2082841083 | BRCA2 | c.9237T= (p.Val3079=) c.*604T= (n.*604T=) c.8868T= (p.Val2956=) c.*799T= (n.*799T=) c.9186T= (p.Val3062=) c.1653T= (p.Val551=) n.1364T= c.9245T= (n.9245T=) c.2115T= c.120T= (p.Val40=) c.194T= c.9141T= (p.Val3047=) | |
| 13 | g.32380126_32380128delinsTTC | CA2082841087 | BRCA2 | c.9237_9239delinsTTC (p.Val3079=) c.*604_*606delinsTTC (n.*604_*606delinsTTC) c.8868_8870delinsTTC (p.Val2956=) c.*799_*801delinsTTC (n.*799_*801delinsTTC) c.9186_9188delinsTTC (p.Val3062=) c.1653_1655delinsTTC (p.Val551=) n.1364_1366delinsTTC c.9245_9247delinsTTC (n.9245_9247delinsTTC) c.2115_2117delinsTTC c.120_122delinsTTC (p.Val40=) c.194_196delinsTTC c.9141_9143delinsTTC (p.Val3047=) | |
| 13 | g.32380127T>A | CA387758593 | BRCA2 | c.9238T>A (p.Ser3080Thr) c.*605T>A (n.*605T>A) c.8869T>A (p.Ser2957Thr) c.*800T>A (n.*800T>A) c.9187T>A (p.Ser3063Thr) c.1654T>A (p.Ser552Thr) n.1365T>A c.9246T>A (n.9246T>A) c.2116T>A c.121T>A (p.Ser41Thr) c.195T>A c.9142T>A (p.Ser3048Thr) | dbSNP |
| 13 | g.32380127T>C | CA387758596 | BRCA2 | c.9238T>C (p.Ser3080Pro) c.*605T>C (n.*605T>C) c.8869T>C (p.Ser2957Pro) c.*800T>C (n.*800T>C) c.9187T>C (p.Ser3063Pro) c.1654T>C (p.Ser552Pro) n.1365T>C c.9246T>C (n.9246T>C) c.2116T>C c.121T>C (p.Ser41Pro) c.195T>C c.9142T>C (p.Ser3048Pro) | ClinVar dbSNP |
| 13 | g.32380127T>G | CA387758600 | BRCA2 | c.9238T>G (p.Ser3080Ala) c.*605T>G (n.*605T>G) c.8869T>G (p.Ser2957Ala) c.*800T>G (n.*800T>G) c.9187T>G (p.Ser3063Ala) c.1654T>G (p.Ser552Ala) n.1365T>G c.9246T>G (n.9246T>G) c.2116T>G c.121T>G (p.Ser41Ala) c.195T>G c.9142T>G (p.Ser3048Ala) | |
| 13 | g.32380128_32380129del | CA919243156 | BRCA2 | c.9239_9240del (p.Ser3080CysfsTer30) c.*606_*607del (n.*606_*607del) c.8870_8871del (p.Ser2957CysfsTer30) c.*801_*802del (n.*801_*802del) c.9239_9240del (p.Ser3080CysfsTer?) c.9188_9189del (p.Ser3063CysfsTer30) c.1655_1656del (p.Ser552CysfsTer30) n.1366_1367del c.9247_9248del (n.9247_9248del) c.2117_2118del c.122_123del (p.Ser41CysfsTer?) c.196_197del c.9143_9144del (p.Ser3048CysfsTer30) | dbSNP |
| 13 | g.32380128C>A | CA387758604 | BRCA2 | c.9239C>A (p.Ser3080Tyr) c.*606C>A (n.*606C>A) c.8870C>A (p.Ser2957Tyr) c.*801C>A (n.*801C>A) c.9188C>A (p.Ser3063Tyr) c.1655C>A (p.Ser552Tyr) n.1366C>A c.9247C>A (n.9247C>A) c.2117C>A c.122C>A (p.Ser41Tyr) c.196C>A c.9143C>A (p.Ser3048Tyr) | |
| 13 | g.32380128C= | CA2082841097 | BRCA2 | c.9239C= (p.Ser3080=) c.*606C= (n.*606C=) c.8870C= (p.Ser2957=) c.*801C= (n.*801C=) c.9188C= (p.Ser3063=) c.1655C= (p.Ser552=) n.1366C= c.9247C= (n.9247C=) c.2117C= c.122C= (p.Ser41=) c.196C= c.9143C= (p.Ser3048=) | |
| 13 | g.32380128C>G | CA6941358 | BRCA2 | c.9239C>G (p.Ser3080Cys) c.*606C>G (n.*606C>G) c.8870C>G (p.Ser2957Cys) c.*801C>G (n.*801C>G) c.9188C>G (p.Ser3063Cys) c.1655C>G (p.Ser552Cys) n.1366C>G c.9247C>G (n.9247C>G) c.2117C>G c.122C>G (p.Ser41Cys) c.196C>G c.9143C>G (p.Ser3048Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32380128C>T | CA387758611 | BRCA2 | c.9239C>T (p.Ser3080Phe) c.*606C>T (n.*606C>T) c.8870C>T (p.Ser2957Phe) c.*801C>T (n.*801C>T) c.9188C>T (p.Ser3063Phe) c.1655C>T (p.Ser552Phe) n.1366C>T c.9247C>T (n.9247C>T) c.2117C>T c.122C>T (p.Ser41Phe) c.196C>T c.9143C>T (p.Ser3048Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32380129T>A | CA483262135 | BRCA2 | c.9240T>A (p.Ser3080=) c.*607T>A (n.*607T>A) c.8871T>A (p.Ser2957=) c.*802T>A (n.*802T>A) c.9189T>A (p.Ser3063=) c.1656T>A (p.Ser552=) n.1367T>A c.9248T>A (n.9248T>A) c.2118T>A c.123T>A (p.Ser41=) c.197T>A c.9144T>A (p.Ser3048=) | |
| 13 | g.32380129T>C | CA483262136 | BRCA2 | c.9240T>C (p.Ser3080=) c.*607T>C (n.*607T>C) c.8871T>C (p.Ser2957=) c.*802T>C (n.*802T>C) c.9189T>C (p.Ser3063=) c.1656T>C (p.Ser552=) n.1367T>C c.9248T>C (n.9248T>C) c.2118T>C c.123T>C (p.Ser41=) c.197T>C c.9144T>C (p.Ser3048=) | |
| 13 | g.32380129T>G | CA483262137 | BRCA2 | c.9240T>G (p.Ser3080=) c.*607T>G (n.*607T>G) c.8871T>G (p.Ser2957=) c.*802T>G (n.*802T>G) c.9189T>G (p.Ser3063=) c.1656T>G (p.Ser552=) n.1367T>G c.9248T>G (n.9248T>G) c.2118T>G c.123T>G (p.Ser41=) c.197T>G c.9144T>G (p.Ser3048=) | |
| 13 | g.32380130G>A | CA387758616 | BRCA2 | c.9241G>A (p.Val3081Ile) c.*608G>A (n.*608G>A) c.8872G>A (p.Val2958Ile) c.*803G>A (n.*803G>A) c.9190G>A (p.Val3064Ile) c.1657G>A (p.Val553Ile) n.1368G>A c.9249G>A (n.9249G>A) c.2119G>A c.124G>A (p.Val42Ile) c.198G>A c.9145G>A (p.Val3049Ile) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380130G>C | CA387758618 | BRCA2 | c.9241G>C (p.Val3081Leu) c.*608G>C (n.*608G>C) c.8872G>C (p.Val2958Leu) c.*803G>C (n.*803G>C) c.9190G>C (p.Val3064Leu) c.1657G>C (p.Val553Leu) n.1368G>C c.9249G>C (n.9249G>C) c.2119G>C c.124G>C (p.Val42Leu) c.198G>C c.9145G>C (p.Val3049Leu) | dbSNP |
| 13 | g.32380130G= | CA2082841113 | BRCA2 | c.9241G= (p.Val3081=) c.*608G= (n.*608G=) c.8872G= (p.Val2958=) c.*803G= (n.*803G=) c.9190G= (p.Val3064=) c.1657G= (p.Val553=) n.1368G= c.9249G= (n.9249G=) c.2119G= c.124G= (p.Val42=) c.198G= c.9145G= (p.Val3049=) | |
| 13 | g.32380130G>T | CA10586088 | BRCA2 | c.9241G>T (p.Val3081Phe) c.*608G>T (n.*608G>T) c.8872G>T (p.Val2958Phe) c.*803G>T (n.*803G>T) c.9190G>T (p.Val3064Phe) c.1657G>T (p.Val553Phe) n.1368G>T c.9249G>T (n.9249G>T) c.2119G>T c.124G>T (p.Val42Phe) c.198G>T c.9145G>T (p.Val3049Phe) | ClinVar dbSNP |
| 13 | g.32380131T>A | CA387758621 | BRCA2 | c.9242T>A (p.Val3081Asp) c.*609T>A (n.*609T>A) c.8873T>A (p.Val2958Asp) c.*804T>A (n.*804T>A) c.9191T>A (p.Val3064Asp) c.1658T>A (p.Val553Asp) n.1369T>A c.9250T>A (n.9250T>A) c.2120T>A c.125T>A (p.Val42Asp) c.199T>A c.9146T>A (p.Val3049Asp) | |
| 13 | g.32380131T>C | CA026046 | BRCA2 | c.9242T>C (p.Val3081Ala) c.*609T>C (n.*609T>C) c.8873T>C (p.Val2958Ala) c.*804T>C (n.*804T>C) c.9191T>C (p.Val3064Ala) c.1658T>C (p.Val553Ala) n.1369T>C c.9250T>C (n.9250T>C) c.2120T>C c.125T>C (p.Val42Ala) c.199T>C c.9146T>C (p.Val3049Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380131T>G | CA387758623 | BRCA2 | c.9242T>G (p.Val3081Gly) c.*609T>G (n.*609T>G) c.8873T>G (p.Val2958Gly) c.*804T>G (n.*804T>G) c.9191T>G (p.Val3064Gly) c.1658T>G (p.Val553Gly) n.1369T>G c.9250T>G (n.9250T>G) c.2120T>G c.125T>G (p.Val42Gly) c.199T>G c.9146T>G (p.Val3049Gly) | ClinVar dbSNP |
| 13 | g.32380131T= | CA2082841128 | BRCA2 | c.9242T= (p.Val3081=) c.*609T= (n.*609T=) c.8873T= (p.Val2958=) c.*804T= (n.*804T=) c.9191T= (p.Val3064=) c.1658T= (p.Val553=) n.1369T= c.9250T= (n.9250T=) c.2120T= c.125T= (p.Val42=) c.199T= c.9146T= (p.Val3049=) | |
| 13 | g.32380132T>A | CA483262139 | BRCA2 | c.9243T>A (p.Val3081=) c.*610T>A (n.*610T>A) c.8874T>A (p.Val2958=) c.*805T>A (n.*805T>A) c.9192T>A (p.Val3064=) c.1659T>A (p.Val553=) n.1370T>A c.9251T>A (n.9251T>A) c.2121T>A c.126T>A (p.Val42=) c.200T>A c.9147T>A (p.Val3049=) | |
| 13 | g.32380132T>C | CA483262141 | BRCA2 | c.9243T>C (p.Val3081=) c.*610T>C (n.*610T>C) c.8874T>C (p.Val2958=) c.*805T>C (n.*805T>C) c.9192T>C (p.Val3064=) c.1659T>C (p.Val553=) n.1370T>C c.9251T>C (n.9251T>C) c.2121T>C c.126T>C (p.Val42=) c.200T>C c.9147T>C (p.Val3049=) | dbSNP |