| 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.32370503_32371631dup | CA2580087371 | BRCA2 | c.8433_8632+531dup c.8064_8263+531dup c.900_1099+531dup c.8441_8640+531dup c.998_1197+531dup c.8337_8536+531dup | ClinVar |
| 13 | g.32370973_32370975del | CA2739277519 | BRCA2 | c.8505_8507del (p.Ser2836del) c.8136_8138del (p.Ser2713del) c.972_974del (p.Ser325del) c.8513_8515del (n.8513_8515del) c.1070_1072del c.8409_8411del (p.Ser2804del) | |
| 13 | g.32370971T>A | CA387752688 | BRCA2 | c.8503T>A (p.Ser2835Thr) c.8134T>A (p.Ser2712Thr) c.970T>A (p.Ser324Thr) c.8511T>A (n.8511T>A) c.1068T>A c.1T>A (p.Ser1Thr) c.8407T>A (p.Ser2803Thr) | dbSNP |
| 13 | g.32370971T>C | CA025684 | BRCA2 | c.8503T>C (p.Ser2835Pro) c.8134T>C (p.Ser2712Pro) c.970T>C (p.Ser324Pro) c.8511T>C (n.8511T>C) c.1068T>C c.1T>C (p.Ser1Pro) c.8407T>C (p.Ser2803Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32370971T>G | CA387752689 | BRCA2 | c.8503T>G (p.Ser2835Ala) c.8134T>G (p.Ser2712Ala) c.970T>G (p.Ser324Ala) c.8511T>G (n.8511T>G) c.1068T>G c.1T>G (p.Ser1Ala) c.8407T>G (p.Ser2803Ala) | |
| 13 | g.32370971T= | CA2082815394 | BRCA2 | c.8503T= (p.Ser2835=) c.8134T= (p.Ser2712=) c.970T= (p.Ser324=) c.8511T= (n.8511T=) c.1068T= c.1T= (p.Ser1=) c.8407T= (p.Ser2803=) | |
| 13 | g.32370972C>A | CA025685 | BRCA2 | c.8504C>A (p.Ser2835Ter) c.8135C>A (p.Ser2712Ter) c.971C>A (p.Ser324Ter) c.8512C>A (n.8512C>A) c.1069C>A c.2C>A (p.Ser1Ter) c.8408C>A (p.Ser2803Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32370972C= | CA2082815405 | BRCA2 | c.8504C= (p.Ser2835=) c.8135C= (p.Ser2712=) c.971C= (p.Ser324=) c.8512C= (n.8512C=) c.1069C= c.2C= (p.Ser1=) c.8408C= (p.Ser2803=) | |
| 13 | g.32370972C>G | CA10589501 | BRCA2 | c.8504C>G (p.Ser2835Ter) c.8135C>G (p.Ser2712Ter) c.971C>G (p.Ser324Ter) c.8512C>G (n.8512C>G) c.1069C>G c.2C>G (p.Ser1Ter) c.8408C>G (p.Ser2803Ter) | ClinVar dbSNP |
| 13 | g.32370972C>T | CA387752690 | BRCA2 | c.8504C>T (p.Ser2835Leu) c.8135C>T (p.Ser2712Leu) c.971C>T (p.Ser324Leu) c.8512C>T (n.8512C>T) c.1069C>T c.2C>T (p.Ser1Leu) c.8408C>T (p.Ser2803Leu) | dbSNP |
| 13 | g.32370972_32370973delinsCA | CA2082815406 | BRCA2 | c.8504_8505delinsCA (p.Ser2835=) c.8135_8136delinsCA (p.Ser2712=) c.971_972delinsCA (p.Ser324=) c.8512_8513delinsCA (n.8512_8513delinsCA) c.1069_1070delinsCA c.2_3delinsCA (p.Ser1=) c.8408_8409delinsCA (p.Ser2803=) | |
| 13 | g.32370973del | CA025686 | BRCA2 | c.8505del (p.Ser2836LeufsTer27) c.8136del (p.Ser2713LeufsTer27) c.972del (p.Ser325LeufsTer27) c.8513del (n.8513del) c.1070del c.3del (p.Ser2LeufsTer27) c.8409del (p.Ser2804LeufsTer27) | ClinVar dbSNP |
| 13 | g.32370973A= | CA2082815421 | BRCA2 | c.8505A= (p.Ser2835=) c.8136A= (p.Ser2712=) c.972A= (p.Ser324=) c.8513A= (n.8513A=) c.1070A= c.3A= (p.Ser1=) c.8409A= (p.Ser2803=) | |
| 13 | g.32370973A>C | CA483261497 | BRCA2 | c.8505A>C (p.Ser2835=) c.8136A>C (p.Ser2712=) c.972A>C (p.Ser324=) c.8513A>C (n.8513A>C) c.1070A>C c.3A>C (p.Ser1=) c.8409A>C (p.Ser2803=) | |
| 13 | g.32370973A>G | CA6941254 | BRCA2 | c.8505A>G (p.Ser2835=) c.8136A>G (p.Ser2712=) c.972A>G (p.Ser324=) c.8513A>G (n.8513A>G) c.1070A>G c.3A>G (p.Ser1=) c.8409A>G (p.Ser2803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32370973A>T | CA483261498 | BRCA2 | c.8505A>T (p.Ser2835=) c.8136A>T (p.Ser2712=) c.972A>T (p.Ser324=) c.8513A>T (n.8513A>T) c.1070A>T c.3A>T (p.Ser1=) c.8409A>T (p.Ser2803=) | dbSNP |
| 13 | g.32370974T>A | CA387752691 | BRCA2 | c.8506T>A (p.Ser2836Thr) c.8137T>A (p.Ser2713Thr) c.973T>A (p.Ser325Thr) c.8514T>A (n.8514T>A) c.1071T>A c.4T>A (p.Ser2Thr) c.8410T>A (p.Ser2804Thr) | dbSNP |
| 13 | g.32370974T>C | CA387752692 | BRCA2 | c.8506T>C (p.Ser2836Pro) c.8137T>C (p.Ser2713Pro) c.973T>C (p.Ser325Pro) c.8514T>C (n.8514T>C) c.1071T>C c.4T>C (p.Ser2Pro) c.8410T>C (p.Ser2804Pro) | ClinVar dbSNP |
| 13 | g.32370974T>G | CA387752693 | BRCA2 | c.8506T>G (p.Ser2836Ala) c.8137T>G (p.Ser2713Ala) c.973T>G (p.Ser325Ala) c.8514T>G (n.8514T>G) c.1071T>G c.4T>G (p.Ser2Ala) c.8410T>G (p.Ser2804Ala) | |
| 13 | g.32370974T= | CA2082815432 | BRCA2 | c.8506T= (p.Ser2836=) c.8137T= (p.Ser2713=) c.973T= (p.Ser325=) c.8514T= (n.8514T=) c.1071T= c.4T= (p.Ser2=) c.8410T= (p.Ser2804=) | |
| 13 | g.32370975_32370976dup | CA2573149214 | BRCA2 | c.8507_8508dup (p.Gly2837LeufsTer27) c.8138_8139dup (p.Gly2714LeufsTer27) c.974_975dup (p.Gly326LeufsTer27) c.8515_8516dup (n.8515_8516dup) c.1072_1073dup c.5_6dup (p.Gly3LeufsTer27) c.8411_8412dup (p.Gly2805LeufsTer27) | ClinVar dbSNP |
| 13 | g.32370975C>A | CA387752694 | BRCA2 | c.8507C>A (p.Ser2836Tyr) c.8138C>A (p.Ser2713Tyr) c.974C>A (p.Ser325Tyr) c.8515C>A (n.8515C>A) c.1072C>A c.5C>A (p.Ser2Tyr) c.8411C>A (p.Ser2804Tyr) | |
| 13 | g.32370975C= | CA2082815436 | BRCA2 | c.8507C= (p.Ser2836=) c.8138C= (p.Ser2713=) c.974C= (p.Ser325=) c.8515C= (n.8515C=) c.1072C= c.5C= (p.Ser2=) c.8411C= (p.Ser2804=) | |
| 13 | g.32370975C>G | CA387752695 | BRCA2 | c.8507C>G (p.Ser2836Cys) c.8138C>G (p.Ser2713Cys) c.974C>G (p.Ser325Cys) c.8515C>G (n.8515C>G) c.1072C>G c.5C>G (p.Ser2Cys) c.8411C>G (p.Ser2804Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32370975C>T | CA336295 | BRCA2 | c.8507C>T (p.Ser2836Phe) c.8138C>T (p.Ser2713Phe) c.974C>T (p.Ser325Phe) c.8515C>T (n.8515C>T) c.1072C>T c.5C>T (p.Ser2Phe) c.8411C>T (p.Ser2804Phe) | ClinVar dbSNP |
| 13 | g.32370976T>A | CA483261499 | BRCA2 | c.8508T>A (p.Ser2836=) c.8139T>A (p.Ser2713=) c.975T>A (p.Ser325=) c.8516T>A (n.8516T>A) c.1073T>A c.6T>A (p.Ser2=) c.8412T>A (p.Ser2804=) | |
| 13 | g.32370976T>C | CA336270 | BRCA2 | c.8508T>C (p.Ser2836=) c.8139T>C (p.Ser2713=) c.975T>C (p.Ser325=) c.8516T>C (n.8516T>C) c.1073T>C c.6T>C (p.Ser2=) c.8412T>C (p.Ser2804=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32370976T>G | CA483261500 | BRCA2 | c.8508T>G (p.Ser2836=) c.8139T>G (p.Ser2713=) c.975T>G (p.Ser325=) c.8516T>G (n.8516T>G) c.1073T>G c.6T>G (p.Ser2=) c.8412T>G (p.Ser2804=) | |
| 13 | g.32370976T= | CA2082815449 | BRCA2 | c.8508T= (p.Ser2836=) c.8139T= (p.Ser2713=) c.975T= (p.Ser325=) c.8516T= (n.8516T=) c.1073T= c.6T= (p.Ser2=) c.8412T= (p.Ser2804=) | |
| 13 | g.32370977G>A | CA387752698 | BRCA2 | c.8509G>A (p.Gly2837Arg) c.8140G>A (p.Gly2714Arg) c.976G>A (p.Gly326Arg) c.8517G>A (n.8517G>A) c.1074G>A c.7G>A (p.Gly3Arg) c.8413G>A (p.Gly2805Arg) | dbSNP |
| 13 | g.32370977G>C | CA387752696 | BRCA2 | c.8509G>C (p.Gly2837Arg) c.8140G>C (p.Gly2714Arg) c.976G>C (p.Gly326Arg) c.8517G>C (n.8517G>C) c.1074G>C c.7G>C (p.Gly3Arg) c.8413G>C (p.Gly2805Arg) | dbSNP |
| 13 | g.32370977G>T | CA387752697 | BRCA2 | c.8509G>T (p.Gly2837Ter) c.8140G>T (p.Gly2714Ter) c.976G>T (p.Gly326Ter) c.8517G>T (n.8517G>T) c.1074G>T c.7G>T (p.Gly3Ter) c.8413G>T (p.Gly2805Ter) | dbSNP COSMIC COSMIC |
| 13 | g.32370978G>A | CA387752699 | BRCA2 | c.8510G>A (p.Gly2837Glu) c.8141G>A (p.Gly2714Glu) c.977G>A (p.Gly326Glu) c.8518G>A (n.8518G>A) c.1075G>A c.8G>A (p.Gly3Glu) c.8414G>A (p.Gly2805Glu) | dbSNP gnomAD v4 |
| 13 | g.32370978G>C | CA387752700 | BRCA2 | c.8510G>C (p.Gly2837Ala) c.8141G>C (p.Gly2714Ala) c.977G>C (p.Gly326Ala) c.8518G>C (n.8518G>C) c.1075G>C c.8G>C (p.Gly3Ala) c.8414G>C (p.Gly2805Ala) | dbSNP gnomAD v4 |
| 13 | g.32370978G= | CA2082815460 | BRCA2 | c.8510G= (p.Gly2837=) c.8141G= (p.Gly2714=) c.977G= (p.Gly326=) c.8518G= (n.8518G=) c.1075G= c.8G= (p.Gly3=) c.8414G= (p.Gly2805=) | |
| 13 | g.32370978G>T | CA025687 | BRCA2 | c.8510G>T (p.Gly2837Val) c.8141G>T (p.Gly2714Val) c.977G>T (p.Gly326Val) c.8518G>T (n.8518G>T) c.1075G>T c.8G>T (p.Gly3Val) c.8414G>T (p.Gly2805Val) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32370979A>C | CA483261501 | BRCA2 | c.8511A>C (p.Gly2837=) c.8142A>C (p.Gly2714=) c.978A>C (p.Gly326=) c.8519A>C (n.8519A>C) c.1076A>C c.9A>C (p.Gly3=) c.8415A>C (p.Gly2805=) | |
| 13 | g.32370979A>G | CA483261502 | BRCA2 | c.8511A>G (p.Gly2837=) c.8142A>G (p.Gly2714=) c.978A>G (p.Gly326=) c.8519A>G (n.8519A>G) c.1076A>G c.9A>G (p.Gly3=) c.8415A>G (p.Gly2805=) | ClinVar dbSNP |
| 13 | g.32370979A>T | CA483261503 | BRCA2 | c.8511A>T (p.Gly2837=) c.8142A>T (p.Gly2714=) c.978A>T (p.Gly326=) c.8519A>T (n.8519A>T) c.1076A>T c.9A>T (p.Gly3=) c.8415A>T (p.Gly2805=) | |
| 13 | g.32370980T>A | CA387752701 | BRCA2 | c.8512T>A (p.Leu2838Ile) c.8143T>A (p.Leu2715Ile) c.979T>A (p.Leu327Ile) c.8520T>A (n.8520T>A) c.1077T>A c.10T>A (p.Leu4Ile) c.8416T>A (p.Leu2806Ile) | dbSNP |
| 13 | g.32370980T>C | CA483261504 | BRCA2 | c.8512T>C (p.Leu2838=) c.8143T>C (p.Leu2715=) c.979T>C (p.Leu327=) c.8520T>C (n.8520T>C) c.1077T>C c.10T>C (p.Leu4=) c.8416T>C (p.Leu2806=) | |
| 13 | g.32370980T>G | CA387752702 | BRCA2 | c.8512T>G (p.Leu2838Val) c.8143T>G (p.Leu2715Val) c.979T>G (p.Leu327Val) c.8520T>G (n.8520T>G) c.1077T>G c.10T>G (p.Leu4Val) c.8416T>G (p.Leu2806Val) | |
| 13 | g.32370981del | CA2727920447 | BRCA2 | c.8513del (p.Leu2838TyrfsTer25) c.8144del (p.Leu2715TyrfsTer25) c.980del (p.Leu327TyrfsTer25) c.8521del (n.8521del) c.1078del c.11del (p.Leu4TyrfsTer25) c.8417del (p.Leu2806TyrfsTer25) | dbSNP |
| 13 | g.32370980_32370982delinsTTA | CA2082815465 | BRCA2 | c.8512_8514delinsTTA (p.Leu2838=) c.8143_8145delinsTTA (p.Leu2715=) c.979_981delinsTTA (p.Leu327=) c.8520_8522delinsTTA (n.8520_8522delinsTTA) c.1077_1079delinsTTA c.10_12delinsTTA (p.Leu4=) c.8416_8418delinsTTA (p.Leu2806=) | |
| 13 | g.32370981T>A | CA10589502 | BRCA2 | c.8513T>A (p.Leu2838Ter) c.8144T>A (p.Leu2715Ter) c.980T>A (p.Leu327Ter) c.8521T>A (n.8521T>A) c.1078T>A c.11T>A (p.Leu4Ter) c.8417T>A (p.Leu2806Ter) | ClinVar dbSNP |
| 13 | g.32370981T>C | CA387752703 | BRCA2 | c.8513T>C (p.Leu2838Ser) c.8144T>C (p.Leu2715Ser) c.980T>C (p.Leu327Ser) c.8521T>C (n.8521T>C) c.1078T>C c.11T>C (p.Leu4Ser) c.8417T>C (p.Leu2806Ser) | |
| 13 | g.32370981T>G | CA10589503 | BRCA2 | c.8513T>G (p.Leu2838Ter) c.8144T>G (p.Leu2715Ter) c.980T>G (p.Leu327Ter) c.8521T>G (n.8521T>G) c.1078T>G c.11T>G (p.Leu4Ter) c.8417T>G (p.Leu2806Ter) | ClinVar dbSNP |
| 13 | g.32370981T= | CA2082815473 | BRCA2 | c.8513T= (p.Leu2838=) c.8144T= (p.Leu2715=) c.980T= (p.Leu327=) c.8521T= (n.8521T=) c.1078T= c.11T= (p.Leu4=) c.8417T= (p.Leu2806=) | |
| 13 | g.32370983_32370984del | CA891843899 | BRCA2 | c.8515_8516del (p.Tyr2839HisfsTer5) c.8146_8147del (p.Tyr2716HisfsTer5) c.982_983del (p.Tyr328HisfsTer5) c.8523_8524del (n.8523_8524del) c.1080_1081del c.13_14del (p.Tyr5HisfsTer5) c.8419_8420del (p.Tyr2807HisfsTer5) | dbSNP |