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.5226570_5233984del | CA124670 | ClinVar | ||
| 11 | g.5226638_5234052del | CA124669 | ClinVar | ||
| 11 | g.5226914_5234326del | CA124673 | ClinVar | ||
| 11 | g.5232906_5232921delinsAAAATAGAATCTAGGG | CA1949563373 | HBD | c.*43_*58delinsCCCTAGATTCTATTTT (n.*43_*58delinsCCCTAGATTCTATTTT) c.316-123_316-108delinsCCCTAGATTCTATTTT (n.316-123_316-108delinsCCCTAGATTCTATTTT) | |
| 11 | g.5232913_5232927del | CA677544208 | HBD | c.*43_*57del (n.*43_*57del) c.316-123_316-109del (n.316-123_316-109del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5232911A= | CA1949563378 | HBD | c.*53T= (n.*53T=) c.316-113T= (n.316-113T=) | |
| 11 | g.5232911A>G | CA5839874 | HBD | c.*53T>C (n.*53T>C) c.316-113T>C (n.316-113T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232912G>A | CA2612163943 | HBD | c.*52C>T (n.*52C>T) c.316-114C>T (n.316-114C>T) | gnomAD v4 |
| 11 | g.5232913A>C | CA2612163944 | HBD | c.*51T>G (n.*51T>G) c.316-115T>G (n.316-115T>G) | gnomAD v4 |
| 11 | g.5232915T>G | CA2790275224 | HBD | c.*49A>C (n.*49A>C) c.316-117A>C (n.316-117A>C) | |
| 11 | g.5232916C>A | CA5839875 | HBD | c.*48G>T (n.*48G>T) c.316-118G>T (n.316-118G>T) | dbSNP ExAC |
| 11 | g.5232916C= | CA1949563389 | HBD | c.*48G= (n.*48G=) c.316-118G= (n.316-118G=) | |
| 11 | g.5232916C>G | CA2574735626 | HBD | c.*48G>C (n.*48G>C) c.316-118G>C (n.316-118G>C) | |
| 11 | g.5232917T>G | CA1949563394 | HBD | c.*47A>C (n.*47A>C) c.316-119A>C (n.316-119A>C) | dbSNP |
| 11 | g.5232917T= | CA1949563393 | HBD | c.*47A= (n.*47A=) c.316-119A= (n.316-119A=) | |
| 11 | g.5232919G>A | CA597436239 | HBD | c.*45C>T (n.*45C>T) c.316-121C>T (n.316-121C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232919G>C | CA2612163945 | HBD | c.*45C>G (n.*45C>G) c.316-121C>G (n.316-121C>G) | gnomAD v4 |
| 11 | g.5232919G= | CA1949563395 | HBD | c.*45C= (n.*45C=) c.316-121C= (n.316-121C=) | |
| 11 | g.5232920G>A | CA1949563397 | HBD | c.*44C>T (n.*44C>T) c.316-122C>T (n.316-122C>T) | dbSNP |
| 11 | g.5232920G= | CA1949563396 | HBD | c.*44C= (n.*44C=) c.316-122C= (n.316-122C=) | |
| 11 | g.5232920_5232921insCCGGGCGCGGTGGCTCACGCCT | CA2612163946 | HBD | c.*43_*44insAGGCGTGAGCCACCGCGCCCGG (n.*43_*44insAGGCGTGAGCCACCGCGCCCGG) c.316-123_316-122insAGGCGTGAGCCACCGCGCCCGG (n.316-123_316-122insAGGCGTGAGCCACCGCGCCCGG) | gnomAD v4 |
| 11 | g.5232920_5232921insCCGGGCGCGGTGGCTCACGCCTGTAATCCCA | CA2612163947 | HBD | c.*43_*44insTGGGATTACAGGCGTGAGCCACCGCGCCCGG (n.*43_*44insTGGGATTACAGGCGTGAGCCACCGCGCCCGG) c.316-123_316-122insTGGGATTACAGGCGTGAGCCACCGCGCCCGG (n.316-123_316-122insTGGGATTACAGGCGTGAGCCACCGCGCCCGG) | gnomAD v4 |
| 11 | g.5232920_5232921insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC | CA934688669 | HBD | c.*43_*44insGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG (n.*43_*44insGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG) c.316-123_316-122insGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG (n.316-123_316-122insGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG) | gnomAD v3 gnomAD v4 |
| 11 | g.5232921G>A | CA5839876 | HBD | c.*43C>T (n.*43C>T) c.316-123C>T (n.316-123C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232921G= | CA1949563398 | HBD | c.*43C= (n.*43C=) c.316-123C= (n.316-123C=) | |
| 11 | g.5232922A= | CA1949563402 | HBD | c.*42T= (n.*42T=) c.316-124T= (n.316-124T=) | |
| 11 | g.5232922A>C | CA1949563401 | HBD | c.*42T>G (n.*42T>G) c.316-124T>G (n.316-124T>G) | dbSNP gnomAD v4 |
| 11 | g.5232922A>G | CA2612163948 | HBD | c.*42T>C (n.*42T>C) c.316-124T>C (n.316-124T>C) | gnomAD v4 |
| 11 | g.5232924dup | CA597436240 | HBD | c.*42dup (n.*42dup) c.316-124dup (n.316-124dup) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232923A= | CA1949563404 | HBD | c.*41T= (n.*41T=) c.316-125T= (n.316-125T=) | |
| 11 | g.5232923A>C | CA2612163951 | HBD | c.*41T>G (n.*41T>G) c.316-125T>G (n.316-125T>G) | gnomAD v4 |
| 11 | g.5232924_5232927dup | CA918809975 | HBD | c.*37_*40dup (n.*37_*40dup) c.316-129_316-126dup (n.316-129_316-126dup) | dbSNP gnomAD v4 |
| 11 | g.5232927G>A | CA5839877 | HBD | c.*37C>T (n.*37C>T) c.316-129C>T (n.316-129C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5232927G>C | CA2612163954 | HBD | c.*37C>G (n.*37C>G) c.316-129C>G (n.316-129C>G) | gnomAD v4 |
| 11 | g.5232927G= | CA1949563407 | HBD | c.*37C= (n.*37C=) c.316-129C= (n.316-129C=) | |
| 11 | g.5232929del | CA2574735627 | HBD | c.*37del (n.*37del) c.316-129del (n.316-129del) | |
| 11 | g.5232928G>A | CA1949563411 | HBD | c.*36C>T (n.*36C>T) c.316-130C>T (n.316-130C>T) | dbSNP gnomAD v4 |
| 11 | g.5232928G= | CA1949563410 | HBD | c.*36C= (n.*36C=) c.316-130C= (n.316-130C=) | |
| 11 | g.5232928G>T | CA1949563412 | HBD | c.*36C>A (n.*36C>A) c.316-130C>A (n.316-130C>A) | dbSNP |
| 11 | g.5232929G>A | CA217120478 | HBD | c.*35C>T (n.*35C>T) c.316-131C>T (n.316-131C>T) | dbSNP |
| 11 | g.5232929G= | CA1949563415 | HBD | c.*35C= (n.*35C=) c.316-131C= (n.316-131C=) | |
| 11 | g.5232929G>T | CA5839878 | HBD | c.*35C>A (n.*35C>A) c.316-131C>A (n.316-131C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5232930T>A | CA379276286 | HBD | c.*34A>T (n.*34A>T) c.316-132A>T (n.316-132A>T) c.255A>T (p.Arg85Ser) | |
| 11 | g.5232930T>G | CA379276287 | HBD | c.*34A>C (n.*34A>C) c.316-132A>C (n.316-132A>C) c.255A>C (p.Arg85Ser) | |
| 11 | g.5232934_5232936del | CA2612163955 | HBD | c.*32_*34del (n.*32_*34del) c.316-134_316-132del (n.316-134_316-132del) c.253_255del (p.Arg85del) | gnomAD v4 |
| 11 | g.5232931C>A | CA379276288 | HBD | c.*33G>T (n.*33G>T) c.316-133G>T (n.316-133G>T) c.254G>T (p.Arg85Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232931C= | CA1949563419 | HBD | c.*33G= (n.*33G=) c.316-133G= (n.316-133G=) c.254G= (p.Arg85=) | |
| 11 | g.5232931C>G | CA5839879 | HBD | c.*33G>C (n.*33G>C) c.316-133G>C (n.316-133G>C) c.254G>C (p.Arg85Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5232931C>T | CA379276289 | HBD | c.*33G>A (n.*33G>A) c.316-133G>A (n.316-133G>A) c.254G>A (p.Arg85Lys) | COSMIC |
| 11 | g.5232932T>A | CA379276290 | HBD | c.*32A>T (n.*32A>T) c.316-134A>T (n.316-134A>T) c.253A>T (p.Arg85Ter) | |
| 11 | g.5232932T>C | CA379276291 | HBD | c.*32A>G (n.*32A>G) c.316-134A>G (n.316-134A>G) c.253A>G (p.Arg85Gly) | |
| 11 | g.5232932T>G | CA597436241 | HBD | c.*32A>C (n.*32A>C) c.316-134A>C (n.316-134A>C) c.253A>C (p.Arg85=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232932T= | CA1949563423 | HBD | c.*32A= (n.*32A=) c.316-134A= (n.316-134A=) c.253A= (p.Arg85=) | |
| 11 | g.5232933T>A | CA379276292 | HBD | c.*31A>T (n.*31A>T) c.316-135A>T (n.316-135A>T) c.252A>T (p.Arg84Ser) | |
| 11 | g.5232933T>G | CA379276293 | HBD | c.*31A>C (n.*31A>C) c.316-135A>C (n.316-135A>C) c.252A>C (p.Arg84Ser) | |
| 11 | g.5232934C>A | CA379276294 | HBD | c.*30G>T (n.*30G>T) c.316-136G>T (n.316-136G>T) c.251G>T (p.Arg84Ile) | |
| 11 | g.5232934C>G | CA379276295 | HBD | c.*30G>C (n.*30G>C) c.316-136G>C (n.316-136G>C) c.251G>C (p.Arg84Thr) | |
| 11 | g.5232934C>T | CA379276296 | HBD | c.*30G>A (n.*30G>A) c.316-136G>A (n.316-136G>A) c.251G>A (p.Arg84Lys) | |
| 11 | g.5232934_5232941delinsCTTATGGT | CA1949563430 | HBD | c.*23_*30delinsACCATAAG (n.*23_*30delinsACCATAAG) c.316-143_316-136delinsACCATAAG (n.316-143_316-136delinsACCATAAG) c.244_251delinsACCATAAG (p.Thr82=) | |
| 11 | g.5232935T>A | CA379276297 | HBD | c.*29A>T (n.*29A>T) c.316-137A>T (n.316-137A>T) c.250A>T (p.Arg84Ter) | |
| 11 | g.5232935T>C | CA379276298 | HBD | c.*29A>G (n.*29A>G) c.316-137A>G (n.316-137A>G) c.250A>G (p.Arg84Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232935T= | CA1949563435 | HBD | c.*29A= (n.*29A=) c.316-137A= (n.316-137A=) c.250A= (p.Arg84=) | |
| 11 | g.5232936_5232942del | CA918809976 | HBD | c.*23_*29del (n.*23_*29del) c.316-143_316-137del (n.316-143_316-137del) c.244_250del (p.Thr82GlufsTer?) | dbSNP gnomAD v4 |
| 11 | g.5232936T>C | CA5839880 | HBD | c.*28A>G (n.*28A>G) c.316-138A>G (n.316-138A>G) c.249A>G (p.Ile83Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232936T= | CA1949563441 | HBD | c.*28A= (n.*28A=) c.316-138A= (n.316-138A=) c.249A= (p.Ile83=) | |
| 11 | g.5232937A= | CA1949563447 | HBD | c.*27T= (n.*27T=) c.316-139T= (n.316-139T=) c.248T= (p.Ile83=) | |
| 11 | g.5232937A>C | CA379276300 | HBD | c.*27T>G (n.*27T>G) c.316-139T>G (n.316-139T>G) c.248T>G (p.Ile83Arg) | |
| 11 | g.5232937A>G | CA379276301 | HBD | c.*27T>C (n.*27T>C) c.316-139T>C (n.316-139T>C) c.248T>C (p.Ile83Thr) | |
| 11 | g.5232937A>T | CA379276299 | HBD | c.*27T>A (n.*27T>A) c.316-139T>A (n.316-139T>A) c.248T>A (p.Ile83Lys) | dbSNP |
| 11 | g.5232938T>A | CA379276302 | HBD | c.*26A>T (n.*26A>T) c.316-140A>T (n.316-140A>T) c.247A>T (p.Ile83Leu) | |
| 11 | g.5232938T>C | CA5839881 | HBD | c.*26A>G (n.*26A>G) c.316-140A>G (n.316-140A>G) c.247A>G (p.Ile83Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232938T>G | CA379276303 | HBD | c.*26A>C (n.*26A>C) c.316-140A>C (n.316-140A>C) c.247A>C (p.Ile83Leu) | |
| 11 | g.5232938T= | CA1949563449 | HBD | c.*26A= (n.*26A=) c.316-140A= (n.316-140A=) c.247A= (p.Ile83=) | |
| 11 | g.5232939G>A | CA934688670 | HBD | c.*25C>T (n.*25C>T) c.316-141C>T (n.316-141C>T) c.246C>T (p.Thr82=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5232939G= | CA1949563454 | HBD | c.*25C= (n.*25C=) c.316-141C= (n.316-141C=) c.246C= (p.Thr82=) | |
| 11 | g.5232940G>A | CA379276304 | HBD | c.*24C>T (n.*24C>T) c.316-142C>T (n.316-142C>T) c.245C>T (p.Thr82Ile) | |
| 11 | g.5232940G>C | CA379276305 | HBD | c.*24C>G (n.*24C>G) c.316-142C>G (n.316-142C>G) c.245C>G (p.Thr82Ser) | dbSNP gnomAD v4 |
| 11 | g.5232940G= | CA1949563456 | HBD | c.*24C= (n.*24C=) c.316-142C= (n.316-142C=) c.245C= (p.Thr82=) | |
| 11 | g.5232940G>T | CA379276306 | HBD | c.*24C>A (n.*24C>A) c.316-142C>A (n.316-142C>A) c.245C>A (p.Thr82Asn) | |
| 11 | g.5232941T>A | CA379276307 | HBD | c.*23A>T (n.*23A>T) c.316-143A>T (n.316-143A>T) c.244A>T (p.Thr82Ser) | |
| 11 | g.5232941T>C | CA379276308 | HBD | c.*23A>G (n.*23A>G) c.316-143A>G (n.316-143A>G) c.244A>G (p.Thr82Ala) | |
| 11 | g.5232941T>G | CA379276309 | HBD | c.*23A>C (n.*23A>C) c.316-143A>C (n.316-143A>C) c.244A>C (p.Thr82Pro) | |
| 11 | g.5232942T>C | CA379276310 | HBD | c.*22A>G (n.*22A>G) c.316-144A>G (n.316-144A>G) c.243A>G (p.Ile81Met) | |
| 11 | g.5232943A>C | CA379276311 | HBD | c.*21T>G (n.*21T>G) c.316-145T>G (n.316-145T>G) c.242T>G (p.Ile81Arg) | |
| 11 | g.5232943A>G | CA379276312 | HBD | c.*21T>C (n.*21T>C) c.316-145T>C (n.316-145T>C) c.242T>C (p.Ile81Thr) | gnomAD v4 |
| 11 | g.5232943A>T | CA379276313 | HBD | c.*21T>A (n.*21T>A) c.316-145T>A (n.316-145T>A) c.242T>A (p.Ile81Lys) | |
| 11 | g.5232944T>A | CA379276316 | HBD | c.*20A>T (n.*20A>T) c.316-146A>T (n.316-146A>T) c.241A>T (p.Ile81Leu) | |
| 11 | g.5232944T>C | CA379276315 | HBD | c.*20A>G (n.*20A>G) c.316-146A>G (n.316-146A>G) c.241A>G (p.Ile81Val) | |
| 11 | g.5232944T>G | CA379276314 | HBD | c.*20A>C (n.*20A>C) c.316-146A>C (n.316-146A>C) c.241A>C (p.Ile81Leu) | |
| 11 | g.5232946A>C | CA379276317 | HBD | c.*18T>G (n.*18T>G) c.316-148T>G (n.316-148T>G) c.239T>G (p.Leu80Arg) | |
| 11 | g.5232946A>G | CA379276318 | HBD | c.*18T>C (n.*18T>C) c.316-148T>C (n.316-148T>C) c.239T>C (p.Leu80Pro) | |
| 11 | g.5232946A>T | CA379276319 | HBD | c.*18T>A (n.*18T>A) c.316-148T>A (n.316-148T>A) c.239T>A (p.Leu80Gln) | |
| 11 | g.5232947G>C | CA379276320 | HBD | c.*17C>G (n.*17C>G) c.316-149C>G (n.316-149C>G) c.238C>G (p.Leu80Val) | |
| 11 | g.5232947G>T | CA379276321 | HBD | c.*17C>A (n.*17C>A) c.316-149C>A (n.316-149C>A) c.238C>A (p.Leu80Met) | |
| 11 | g.5232948G>A | CA2547762725 | HBD | c.*16C>T (n.*16C>T) c.316-150C>T (n.316-150C>T) c.237C>T (p.Phe79=) | gnomAD v4 |
| 11 | g.5232948G>C | CA379276322 | HBD | c.*16C>G (n.*16C>G) c.316-150C>G (n.316-150C>G) c.237C>G (p.Phe79Leu) | gnomAD v4 |
| 11 | g.5232948G>T | CA379276323 | HBD | c.*16C>A (n.*16C>A) c.316-150C>A (n.316-150C>A) c.237C>A (p.Phe79Leu) | |
| 11 | g.5232949A>C | CA379276324 | HBD | c.*15T>G (n.*15T>G) c.316-151T>G (n.316-151T>G) c.236T>G (p.Phe79Cys) | |
| 11 | g.5232949A>G | CA379276325 | HBD | c.*15T>C (n.*15T>C) c.316-151T>C (n.316-151T>C) c.236T>C (p.Phe79Ser) | |
| 11 | g.5232949A>T | CA379276326 | HBD | c.*15T>A (n.*15T>A) c.316-151T>A (n.316-151T>A) c.236T>A (p.Phe79Tyr) | gnomAD v4 |
| 11 | g.5232950A>C | CA379276327 | HBD | c.*14T>G (n.*14T>G) c.316-152T>G (n.316-152T>G) c.235T>G (p.Phe79Val) | |
| 11 | g.5232950A>G | CA379276328 | HBD | c.*14T>C (n.*14T>C) c.316-152T>C (n.316-152T>C) c.235T>C (p.Phe79Leu) | |
| 11 | g.5232950A>T | CA379276329 | HBD | c.*14T>A (n.*14T>A) c.316-152T>A (n.316-152T>A) c.235T>A (p.Phe79Ile) | |
| 11 | g.5232951A>C | CA379276331 | HBD | c.*13T>G (n.*13T>G) c.316-153T>G (n.316-153T>G) c.234T>G (p.Cys78Trp) | |
| 11 | g.5232951A>T | CA379276330 | HBD | c.*13T>A (n.*13T>A) c.316-153T>A (n.316-153T>A) c.234T>A (p.Cys78Ter) | |
| 11 | g.5232952C>A | CA5839882 | HBD | c.*12G>T (n.*12G>T) c.316-154G>T (n.316-154G>T) c.233G>T (p.Cys78Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232952C= | CA1949563463 | HBD | c.*12G= (n.*12G=) c.316-154G= (n.316-154G=) c.233G= (p.Cys78=) | |
| 11 | g.5232952C>G | CA379276333 | HBD | c.*12G>C (n.*12G>C) c.316-154G>C (n.316-154G>C) c.233G>C (p.Cys78Ser) | |
| 11 | g.5232952C>T | CA379276332 | HBD | c.*12G>A (n.*12G>A) c.316-154G>A (n.316-154G>A) c.233G>A (p.Cys78Tyr) | dbSNP gnomAD v4 |
| 11 | g.5232953A>C | CA379276334 | HBD | c.*11T>G (n.*11T>G) c.316-155T>G (n.316-155T>G) c.232T>G (p.Cys78Gly) | |
| 11 | g.5232953A>G | CA379276335 | HBD | c.*11T>C (n.*11T>C) c.316-155T>C (n.316-155T>C) c.232T>C (p.Cys78Arg) | |
| 11 | g.5232953A>T | CA379276336 | HBD | c.*11T>A (n.*11T>A) c.316-155T>A (n.316-155T>A) c.232T>A (p.Cys78Ser) | |
| 11 | g.5232954G>C | CA379276337 | HBD | c.*10C>G (n.*10C>G) c.316-156C>G (n.316-156C>G) c.231C>G (p.Asp77Glu) | |
| 11 | g.5232954G>T | CA379276338 | HBD | c.*10C>A (n.*10C>A) c.316-156C>A (n.316-156C>A) c.231C>A (p.Asp77Glu) | |
| 11 | g.5232955T>A | CA379276339 | HBD | c.*9A>T (n.*9A>T) c.316-157A>T (n.316-157A>T) c.230A>T (p.Asp77Val) | |
| 11 | g.5232955T>C | CA379276340 | HBD | c.*9A>G (n.*9A>G) c.316-157A>G (n.316-157A>G) c.230A>G (p.Asp77Gly) | gnomAD v4 |
| 11 | g.5232955T>G | CA217120498 | HBD | c.*9A>C (n.*9A>C) c.316-157A>C (n.316-157A>C) c.230A>C (p.Asp77Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5232955T= | CA1949563466 | HBD | c.*9A= (n.*9A=) c.316-157A= (n.316-157A=) c.230A= (p.Asp77=) | |
| 11 | g.5232956C>A | CA379276341 | HBD | c.*8G>T (n.*8G>T) c.316-158G>T (n.316-158G>T) c.229G>T (p.Asp77Tyr) | |
| 11 | g.5232956C>G | CA379276342 | HBD | c.*8G>C (n.*8G>C) c.316-158G>C (n.316-158G>C) c.229G>C (p.Asp77His) | gnomAD v4 |
| 11 | g.5232956C>T | CA379276343 | HBD | c.*8G>A (n.*8G>A) c.316-158G>A (n.316-158G>A) c.229G>A (p.Asp77Asn) | |
| 11 | g.5232957del | CA2612163957 | HBD | c.*8del (n.*8del) c.316-158del (n.316-158del) c.229del (p.Asp77ThrfsTer4) | gnomAD v4 |
| 11 | g.5232958A= | CA1949563470 | HBD | c.*6T= (n.*6T=) c.316-160T= (n.316-160T=) c.227T= (p.Leu76=) | |
| 11 | g.5232958A>C | CA379276346 | HBD | c.*6T>G (n.*6T>G) c.316-160T>G (n.316-160T>G) c.227T>G (p.Leu76Arg) | |
| 11 | g.5232958A>G | CA379276344 | HBD | c.*6T>C (n.*6T>C) c.316-160T>C (n.316-160T>C) c.227T>C (p.Leu76Pro) | dbSNP |
| 11 | g.5232958A>T | CA379276345 | HBD | c.*6T>A (n.*6T>A) c.316-160T>A (n.316-160T>A) c.227T>A (p.Leu76Gln) | |
| 11 | g.5232959G>C | CA379276347 | HBD | c.*5C>G (n.*5C>G) c.316-161C>G (n.316-161C>G) c.226C>G (p.Leu76Val) | |
| 11 | g.5232959G>T | CA379276348 | HBD | c.*5C>A (n.*5C>A) c.316-161C>A (n.316-161C>A) c.226C>A (p.Leu76Met) | |
| 11 | g.5232960G>C | CA379276349 | HBD | c.*4C>G (n.*4C>G) c.316-162C>G (n.316-162C>G) c.225C>G (p.Ile75Met) | gnomAD v4 |
| 11 | g.5232960G= | CA1949563476 | HBD | c.*4C= (n.*4C=) c.316-162C= (n.316-162C=) c.225C= (p.Ile75=) | |
| 11 | g.5232960G>T | CA597436242 | HBD | c.*4C>A (n.*4C>A) c.316-162C>A (n.316-162C>A) c.225C>A (p.Ile75=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232961A>C | CA379276350 | HBD | c.*3T>G (n.*3T>G) c.316-163T>G (n.316-163T>G) c.224T>G (p.Ile75Ser) | |
| 11 | g.5232961A>G | CA379276351 | HBD | c.*3T>C (n.*3T>C) c.316-163T>C (n.316-163T>C) c.224T>C (p.Ile75Thr) | |
| 11 | g.5232961A>T | CA379276352 | HBD | c.*3T>A (n.*3T>A) c.316-163T>A (n.316-163T>A) c.224T>A (p.Ile75Asn) | |
| 11 | g.5232962T>A | CA379276353 | HBD | c.*2A>T (n.*2A>T) c.316-164A>T (n.316-164A>T) c.223A>T (p.Ile75Phe) | |
| 11 | g.5232962T>C | CA379276354 | HBD | c.*2A>G (n.*2A>G) c.316-164A>G (n.316-164A>G) c.223A>G (p.Ile75Val) | |
| 11 | g.5232962T>G | CA379276355 | HBD | c.*2A>C (n.*2A>C) c.316-164A>C (n.316-164A>C) c.223A>C (p.Ile75Leu) | |
| 11 | g.5232963C>A | CA379276356 | HBD | c.*1G>T (n.*1G>T) c.316-165G>T (n.316-165G>T) c.222G>T (p.Glu74Asp) | |
| 11 | g.5232963C>G | CA379276357 | HBD | c.*1G>C (n.*1G>C) c.316-165G>C (n.316-165G>C) c.222G>C (p.Glu74Asp) | |
| 11 | g.5232964T>A | CA379276359 | HBD | c.444A>T (p.Ter148Cys) c.316-166A>T (n.316-166A>T) c.221A>T (p.Glu74Val) | gnomAD v4 |
| 11 | g.5232964T>C | CA379276360 | HBD | c.444A>G (p.Ter148Trp) c.316-166A>G (n.316-166A>G) c.221A>G (p.Glu74Gly) | |
| 11 | g.5232964T>G | CA379276358 | HBD | c.444A>C (p.Ter148Cys) c.316-166A>C (n.316-166A>C) c.221A>C (p.Glu74Ala) | |
| 11 | g.5232965C>A | CA379276361 | HBD | c.443G>T (p.Ter148Leu) c.316-167G>T (n.316-167G>T) c.220G>T (p.Glu74Ter) | gnomAD v4 |
| 11 | g.5232965C= | CA1949563478 | HBD | c.443G= (p.Ter148=) c.316-167G= (n.316-167G=) c.220G= (p.Glu74=) | |
| 11 | g.5232965C>G | CA379276362 | HBD | c.443G>C (p.Ter148Ser) c.316-167G>C (n.316-167G>C) c.220G>C (p.Glu74Gln) | |
| 11 | g.5232965C>T | CA379276363 | HBD | c.443G>A (p.Ter148=) c.316-167G>A (n.316-167G>A) c.220G>A (p.Glu74Lys) | dbSNP |
| 11 | g.5232967_5232988del | CA2612163958 | HBD | c.422_443del (p.Ala141GlufsTer?) c.316-188_316-167del (n.316-188_316-167del) c.199_220del (p.Pro67ArgfsTer7) | gnomAD v4 |
| 11 | g.5232966A>C | CA379276364 | HBD | c.442T>G (p.Ter148Gly) c.316-168T>G (n.316-168T>G) c.219T>G (p.Ile73Met) | gnomAD v4 |
| 11 | g.5232966A>G | CA379276365 | HBD | c.442T>C (p.Ter148Arg) c.316-168T>C (n.316-168T>C) c.219T>C (p.Ile73=) | gnomAD v4 |
| 11 | g.5232966A>T | CA379276366 | HBD | c.442T>A (p.Ter148Arg) c.316-168T>A (n.316-168T>A) c.219T>A (p.Ile73=) | |
| 11 | g.5232967A= | CA1949563482 | HBD | c.441T= (p.His147=) c.316-169T= (n.316-169T=) c.218T= (p.Ile73=) | |
| 11 | g.5232967A>C | CA379276367 | HBD | c.441T>G (p.His147Gln) c.316-169T>G (n.316-169T>G) c.218T>G (p.Ile73Ser) | gnomAD v4 |
| 11 | g.5232967A>G | CA5839883 | HBD | c.441T>C (p.His147=) c.316-169T>C (n.316-169T>C) c.218T>C (p.Ile73Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232967A>T | CA379276368 | HBD | c.441T>A (p.His147Gln) c.316-169T>A (n.316-169T>A) c.218T>A (p.Ile73Asn) | |
| 11 | g.5232968T>A | CA5839884 | HBD | c.440A>T (p.His147Leu) c.316-170A>T (n.316-170A>T) c.217A>T (p.Ile73Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5232968T>C | CA124697 | HBD | c.440A>G (p.His147Arg) c.316-170A>G (n.316-170A>G) c.217A>G (p.Ile73Val) | ClinVar dbSNP |
| 11 | g.5232968T>G | CA379276369 | HBD | c.440A>C (p.His147Pro) c.316-170A>C (n.316-170A>C) c.217A>C (p.Ile73Leu) | |
| 11 | g.5232968T= | CA1949563492 | HBD | c.440A= (p.His147=) c.316-170A= (n.316-170A=) c.217A= (p.Ile73=) | |
| 11 | g.5232969G>A | CA5839885 | HBD | c.439C>T (p.His147Tyr) c.316-171C>T (n.316-171C>T) c.216C>T (p.Thr72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5232969G>C | CA379276371 | HBD | c.439C>G (p.His147Asp) c.316-171C>G (n.316-171C>G) c.216C>G (p.Thr72=) | |
| 11 | g.5232969G= | CA1949563497 | HBD | c.439C= (p.His147=) c.316-171C= (n.316-171C=) c.216C= (p.Thr72=) | |
| 11 | g.5232969G>T | CA379276370 | HBD | c.439C>A (p.His147Asn) c.316-171C>A (n.316-171C>A) c.216C>A (p.Thr72=) | dbSNP |
| 11 | g.5232970G>A | CA379276372 | HBD | c.438C>T (p.Tyr146=) c.316-172C>T (n.316-172C>T) c.215C>T (p.Thr72Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232970G>C | CA5839886 | HBD | c.438C>G (p.Tyr146Ter) c.316-172C>G (n.316-172C>G) c.215C>G (p.Thr72Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232970G= | CA1949563501 | HBD | c.438C= (p.Tyr146=) c.316-172C= (n.316-172C=) c.215C= (p.Thr72=) | |
| 11 | g.5232970G>T | CA379276373 | HBD | c.438C>A (p.Tyr146Ter) c.316-172C>A (n.316-172C>A) c.215C>A (p.Thr72Asn) | |
| 11 | g.5232971T>A | CA217120518 | HBD | c.437A>T (p.Tyr146Phe) c.316-173A>T (n.316-173A>T) c.214A>T (p.Thr72Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232971T>C | CA379276374 | HBD | c.437A>G (p.Tyr146Cys) c.316-173A>G (n.316-173A>G) c.214A>G (p.Thr72Ala) | |
| 11 | g.5232971T>G | CA379276375 | HBD | c.437A>C (p.Tyr146Ser) c.316-173A>C (n.316-173A>C) c.214A>C (p.Thr72Pro) | |
| 11 | g.5232971T= | CA1949563504 | HBD | c.437A= (p.Tyr146=) c.316-173A= (n.316-173A=) c.214A= (p.Thr72=) | |
| 11 | g.5232972A>C | CA379276378 | HBD | c.436T>G (p.Tyr146Asp) c.316-174T>G (n.316-174T>G) c.213T>G (p.Ser71Arg) | |
| 11 | g.5232972A>G | CA379276376 | HBD | c.436T>C (p.Tyr146His) c.316-174T>C (n.316-174T>C) c.213T>C (p.Ser71=) | |
| 11 | g.5232972A>T | CA379276377 | HBD | c.436T>A (p.Tyr146Asn) c.316-174T>A (n.316-174T>A) c.213T>A (p.Ser71Arg) | |
| 11 | g.5232973C>A | CA379276379 | HBD | c.435G>T (p.Lys145Asn) c.316-175G>T (n.316-175G>T) c.212G>T (p.Ser71Ile) | |
| 11 | g.5232973C= | CA1949563510 | HBD | c.435G= (p.Lys145=) c.316-175G= (n.316-175G=) c.212G= (p.Ser71=) | |
| 11 | g.5232973C>G | CA379276380 | HBD | c.435G>C (p.Lys145Asn) c.316-175G>C (n.316-175G>C) c.212G>C (p.Ser71Thr) | gnomAD v4 |
| 11 | g.5232973C>T | CA379276381 | HBD | c.435G>A (p.Lys145=) c.316-175G>A (n.316-175G>A) c.212G>A (p.Ser71Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232974T>A | CA379276382 | HBD | c.434A>T (p.Lys145Met) c.316-176A>T (n.316-176A>T) c.211A>T (p.Ser71Cys) | |
| 11 | g.5232974T>C | CA379276383 | HBD | c.434A>G (p.Lys145Arg) c.316-176A>G (n.316-176A>G) c.211A>G (p.Ser71Gly) | |
| 11 | g.5232974T>G | CA217120523 | HBD | c.434A>C (p.Lys145Thr) c.316-176A>C (n.316-176A>C) c.211A>C (p.Ser71Arg) | dbSNP |
| 11 | g.5232974T= | CA1949563514 | HBD | c.434A= (p.Lys145=) c.316-176A= (n.316-176A=) c.211A= (p.Ser71=) | |
| 11 | g.5232975T>A | CA379276385 | HBD | c.433A>T (p.Lys145Ter) c.316-177A>T (n.316-177A>T) c.210A>T (p.Thr70=) | gnomAD v4 |
| 11 | g.5232975T>C | CA379276386 | HBD | c.433A>G (p.Lys145Glu) c.316-177A>G (n.316-177A>G) c.210A>G (p.Thr70=) | |
| 11 | g.5232975T>G | CA379276384 | HBD | c.433A>C (p.Lys145Gln) c.316-177A>C (n.316-177A>C) c.210A>C (p.Thr70=) | |
| 11 | g.5232976G>A | CA379276388 | HBD | c.432C>T (p.His144=) c.316-178C>T (n.316-178C>T) c.209C>T (p.Thr70Ile) | gnomAD v4 |
| 11 | g.5232976G>C | CA379276387 | HBD | c.432C>G (p.His144Gln) c.316-178C>G (n.316-178C>G) c.209C>G (p.Thr70Arg) | |
| 11 | g.5232976G>T | CA379276389 | HBD | c.432C>A (p.His144Gln) c.316-178C>A (n.316-178C>A) c.209C>A (p.Thr70Lys) | COSMIC |
| 11 | g.5232977T>A | CA379276390 | HBD | c.431A>T (p.His144Leu) c.316-179A>T (n.316-179A>T) c.208A>T (p.Thr70Ser) | |
| 11 | g.5232977T>C | CA379276392 | HBD | c.431A>G (p.His144Arg) c.316-179A>G (n.316-179A>G) c.208A>G (p.Thr70Ala) | gnomAD v4 |
| 11 | g.5232977T>G | CA379276391 | HBD | c.431A>C (p.His144Pro) c.316-179A>C (n.316-179A>C) c.208A>C (p.Thr70Pro) | |
| 11 | g.5232978G>A | CA217120527 | HBD | c.430C>T (p.His144Tyr) c.316-180C>T (n.316-180C>T) c.207C>T (p.Leu69=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232978G>C | CA379276394 | HBD | c.430C>G (p.His144Asp) c.316-180C>G (n.316-180C>G) c.207C>G (p.Leu69=) | |
| 11 | g.5232978G= | CA1949563524 | HBD | c.430C= (p.His144=) c.316-180C= (n.316-180C=) c.207C= (p.Leu69=) | |
| 11 | g.5232978G>T | CA379276393 | HBD | c.430C>A (p.His144Asn) c.316-180C>A (n.316-180C>A) c.207C>A (p.Leu69=) | |
| 11 | g.5232979A>C | CA379276395 | HBD | c.429T>G (p.Ala143=) c.316-181T>G (n.316-181T>G) c.206T>G (p.Leu69Arg) | |
| 11 | g.5232979A>G | CA379276397 | HBD | c.429T>C (p.Ala143=) c.316-181T>C (n.316-181T>C) c.206T>C (p.Leu69Pro) | |
| 11 | g.5232979A>T | CA379276396 | HBD | c.429T>A (p.Ala143=) c.316-181T>A (n.316-181T>A) c.206T>A (p.Leu69His) | |
| 11 | g.5232980G>A | CA379276398 | HBD | c.428C>T (p.Ala143Val) c.316-182C>T (n.316-182C>T) c.205C>T (p.Leu69Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232980G>C | CA379276399 | HBD | c.428C>G (p.Ala143Gly) c.316-182C>G (n.316-182C>G) c.205C>G (p.Leu69Val) | |
| 11 | g.5232980G= | CA1949563528 | HBD | c.428C= (p.Ala143=) c.316-182C= (n.316-182C=) c.205C= (p.Leu69=) | |
| 11 | g.5232980G>T | CA124643 | HBD | c.428C>A (p.Ala143Asp) c.316-182C>A (n.316-182C>A) c.205C>A (p.Leu69Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232981C>A | CA379276400 | HBD | c.427G>T (p.Ala143Ser) c.316-183G>T (n.316-183G>T) c.204G>T (p.Trp68Cys) | COSMIC |
| 11 | g.5232981C>G | CA379276401 | HBD | c.427G>C (p.Ala143Pro) c.316-183G>C (n.316-183G>C) c.204G>C (p.Trp68Cys) | COSMIC |
| 11 | g.5232981C>T | CA379276402 | HBD | c.427G>A (p.Ala143Thr) c.316-183G>A (n.316-183G>A) c.204G>A (p.Trp68Ter) | |
| 11 | g.5232981_5232982dup | CA1949563537 | HBD | c.426_427dup (p.Ala143GlyfsTer?) c.316-184_316-183dup (n.316-184_316-183dup) c.203_204dup (p.Leu69GlyfsTer13) | dbSNP |
| 11 | g.5232982C>A | CA379276403 | HBD | c.426G>T (p.Leu142=) c.316-184G>T (n.316-184G>T) c.203G>T (p.Trp68Leu) | COSMIC |
| 11 | g.5232982C= | CA1949563542 | HBD | c.426G= (p.Leu142=) c.316-184G= (n.316-184G=) c.203G= (p.Trp68=) | |
| 11 | g.5232982C>G | CA379276404 | HBD | c.426G>C (p.Leu142=) c.316-184G>C (n.316-184G>C) c.203G>C (p.Trp68Ser) | gnomAD v4 |
| 11 | g.5232982C>T | CA379276405 | HBD | c.426G>A (p.Leu142=) c.316-184G>A (n.316-184G>A) c.203G>A (p.Trp68Ter) | dbSNP |
| 11 | g.5232983A= | CA1949563550 | HBD | c.425T= (p.Leu142=) c.316-185T= (n.316-185T=) c.202T= (p.Trp68=) | |
| 11 | g.5232983A>C | CA379276406 | HBD | c.425T>G (p.Leu142Arg) c.316-185T>G (n.316-185T>G) c.202T>G (p.Trp68Gly) | |
| 11 | g.5232983A>G | CA124671 | HBD | c.425T>C (p.Leu142Pro) c.316-185T>C (n.316-185T>C) c.202T>C (p.Trp68Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232983A>T | CA379276407 | HBD | c.425T>A (p.Leu142Gln) c.316-185T>A (n.316-185T>A) c.202T>A (p.Trp68Arg) | |
| 11 | g.5232984G>A | CA472641222 | HBD | c.424C>T (p.Leu142=) c.316-186C>T (n.316-186C>T) c.201C>T (p.Pro67=) | gnomAD v4 |
| 11 | g.5232984G>C | CA379276408 | HBD | c.424C>G (p.Leu142Val) c.316-186C>G (n.316-186C>G) c.201C>G (p.Pro67=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5232984G= | CA1949563560 | HBD | c.424C= (p.Leu142=) c.316-186C= (n.316-186C=) c.201C= (p.Pro67=) | |
| 11 | g.5232984G>T | CA379276409 | HBD | c.424C>A (p.Leu142Met) c.316-186C>A (n.316-186C>A) c.201C>A (p.Pro67=) | |
| 11 | g.5232986del | CA2612163959 | HBD | c.424del (p.Leu142TrpfsTer?) c.316-186del (n.316-186del) c.201del (p.Trp68GlyfsTer13) | gnomAD v4 |
| 11 | g.5232985G>A | CA379276410 | HBD | c.423C>T (p.Ala141=) c.316-187C>T (n.316-187C>T) c.200C>T (p.Pro67Leu) | COSMIC |
| 11 | g.5232985G>C | CA217120543 | HBD | c.423C>G (p.Ala141=) c.316-187C>G (n.316-187C>G) c.200C>G (p.Pro67Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232985G= | CA1949563564 | HBD | c.423C= (p.Ala141=) c.316-187C= (n.316-187C=) c.200C= (p.Pro67=) | |
| 11 | g.5232985G>T | CA379276411 | HBD | c.423C>A (p.Ala141=) c.316-187C>A (n.316-187C>A) c.200C>A (p.Pro67His) | |
| 11 | g.5232986G>A | CA217120544 | HBD | c.422C>T (p.Ala141Val) c.316-188C>T (n.316-188C>T) c.199C>T (p.Pro67Ser) | dbSNP |
| 11 | g.5232986G>C | CA379276412 | HBD | c.422C>G (p.Ala141Gly) c.316-188C>G (n.316-188C>G) c.199C>G (p.Pro67Ala) | dbSNP gnomAD v4 |
| 11 | g.5232986G= | CA1949563569 | HBD | c.422C= (p.Ala141=) c.316-188C= (n.316-188C=) c.199C= (p.Pro67=) | |
| 11 | g.5232986G>T | CA379276413 | HBD | c.422C>A (p.Ala141Asp) c.316-188C>A (n.316-188C>A) c.199C>A (p.Pro67Thr) | |
| 11 | g.5232987C>A | CA379276414 | HBD | c.421G>T (p.Ala141Ser) c.316-189G>T (n.316-189G>T) c.198G>T (p.Met66Ile) | |
| 11 | g.5232987C>G | CA379276415 | HBD | c.421G>C (p.Ala141Pro) c.316-189G>C (n.316-189G>C) c.198G>C (p.Met66Ile) | |
| 11 | g.5232987C>T | CA379276416 | HBD | c.421G>A (p.Ala141Thr) c.316-189G>A (n.316-189G>A) c.198G>A (p.Met66Ile) | |
| 11 | g.5232988A= | CA1949563573 | HBD | c.420T= (p.Asn140=) c.316-190T= (n.316-190T=) c.197T= (p.Met66=) | |
| 11 | g.5232988A>C | CA379276417 | HBD | c.420T>G (p.Asn140Lys) c.316-190T>G (n.316-190T>G) c.197T>G (p.Met66Arg) | |
| 11 | g.5232988A>G | CA379276418 | HBD | c.420T>C (p.Asn140=) c.316-190T>C (n.316-190T>C) c.197T>C (p.Met66Thr) | dbSNP |
| 11 | g.5232988A>T | CA379276419 | HBD | c.420T>A (p.Asn140Lys) c.316-190T>A (n.316-190T>A) c.197T>A (p.Met66Lys) | |
| 11 | g.5232989T>A | CA379276422 | HBD | c.419A>T (p.Asn140Ile) c.316-191A>T (n.316-191A>T) c.196A>T (p.Met66Leu) | |
| 11 | g.5232989T>C | CA379276420 | HBD | c.419A>G (p.Asn140Ser) c.316-191A>G (n.316-191A>G) c.196A>G (p.Met66Val) | dbSNP gnomAD v4 |
| 11 | g.5232989T>G | CA379276421 | HBD | c.419A>C (p.Asn140Thr) c.316-191A>C (n.316-191A>C) c.196A>C (p.Met66Leu) | dbSNP |
| 11 | g.5232989T= | CA1949563578 | HBD | c.419A= (p.Asn140=) c.316-191A= (n.316-191A=) c.196A= (p.Met66=) | |
| 11 | g.5232990T>A | CA379276423 | HBD | c.418A>T (p.Asn140Tyr) c.316-192A>T (n.316-192A>T) c.195A>T (p.Leu65=) | dbSNP |
| 11 | g.5232990T>C | CA379276424 | HBD | c.418A>G (p.Asn140Asp) c.316-192A>G (n.316-192A>G) c.195A>G (p.Leu65=) | dbSNP |
| 11 | g.5232990T>G | CA379276425 | HBD | c.418A>C (p.Asn140His) c.316-192A>C (n.316-192A>C) c.195A>C (p.Leu65=) | |
| 11 | g.5232990T= | CA1949563583 | HBD | c.418A= (p.Asn140=) c.316-192A= (n.316-192A=) c.195A= (p.Leu65=) | |
| 11 | g.5232991A= | CA1949563585 | HBD | c.417T= (p.Ala139=) c.316-193T= (n.316-193T=) c.194T= (p.Leu65=) | |
| 11 | g.5232991A>C | CA379276426 | HBD | c.417T>G (p.Ala139=) c.316-193T>G (n.316-193T>G) c.194T>G (p.Leu65Arg) | |
| 11 | g.5232991A>G | CA379276427 | HBD | c.417T>C (p.Ala139=) c.316-193T>C (n.316-193T>C) c.194T>C (p.Leu65Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5232991A>T | CA379276428 | HBD | c.417T>A (p.Ala139=) c.316-193T>A (n.316-193T>A) c.194T>A (p.Leu65Gln) | |
| 11 | g.5232992_5232995dup | CA2695212996 | HBD | c.414_417dup (p.Asn140GlyfsTer2) c.316-196_316-193dup (n.316-196_316-193dup) c.191_194dup (p.Met66AlafsTer10) | |
| 11 | g.5232992G>A | CA379276429 | HBD | c.416C>T (p.Ala139Val) c.316-194C>T (n.316-194C>T) c.193C>T (p.Leu65=) | |
| 11 | g.5232992G>C | CA217120546 | HBD | c.416C>G (p.Ala139Gly) c.316-194C>G (n.316-194C>G) c.193C>G (p.Leu65Val) | dbSNP |
| 11 | g.5232992G= | CA1949563587 | HBD | c.416C= (p.Ala139=) c.316-194C= (n.316-194C=) c.193C= (p.Leu65=) | |
| 11 | g.5232992G>T | CA379276430 | HBD | c.416C>A (p.Ala139Asp) c.316-194C>A (n.316-194C>A) c.193C>A (p.Leu65Ile) | |
| 11 | g.5232992_5232995delinsGCCA | CA1949563586 | HBD | c.413_416delinsTGGC (p.Val138=) c.316-197_316-194delinsTGGC (n.316-197_316-194delinsTGGC) c.190_193delinsTGGC (p.Trp64=) | |
| 11 | g.5232993C>A | CA217120565 | HBD | c.415G>T (p.Ala139Ser) c.316-195G>T (n.316-195G>T) c.192G>T (p.Trp64Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5232993C= | CA1949563591 | HBD | c.415G= (p.Ala139=) c.316-195G= (n.316-195G=) c.192G= (p.Trp64=) | |
| 11 | g.5232993C>G | CA379276431 | HBD | c.415G>C (p.Ala139Pro) c.316-195G>C (n.316-195G>C) c.192G>C (p.Trp64Cys) | |
| 11 | g.5232993C>T | CA379276432 | HBD | c.415G>A (p.Ala139Thr) c.316-195G>A (n.316-195G>A) c.192G>A (p.Trp64Ter) | gnomAD v4 |
| 11 | g.5232994_5232996del | CA217120562 | HBD | c.413_415del (p.Val138del) c.316-197_316-195del (n.316-197_316-195del) c.190_192del (p.Trp64del) | dbSNP |
| 11 | g.5232994C>A | CA379276435 | HBD | c.414G>T (p.Val138=) c.316-196G>T (n.316-196G>T) c.191G>T (p.Trp64Leu) | COSMIC |
| 11 | g.5232994C>G | CA379276434 | HBD | c.414G>C (p.Val138=) c.316-196G>C (n.316-196G>C) c.191G>C (p.Trp64Ser) | |
| 11 | g.5232994C>T | CA379276433 | HBD | c.414G>A (p.Val138=) c.316-196G>A (n.316-196G>A) c.191G>A (p.Trp64Ter) | gnomAD v4 |
| 11 | g.5232995A>C | CA379276436 | HBD | c.413T>G (p.Val138Gly) c.316-197T>G (n.316-197T>G) c.190T>G (p.Trp64Gly) | |
| 11 | g.5232995A>G | CA379276437 | HBD | c.413T>C (p.Val138Ala) c.316-197T>C (n.316-197T>C) c.190T>C (p.Trp64Arg) | |
| 11 | g.5232995A>T | CA379276438 | HBD | c.413T>A (p.Val138Glu) c.316-197T>A (n.316-197T>A) c.190T>A (p.Trp64Arg) | |
| 11 | g.5232996C>A | CA379276439 | HBD | c.412G>T (p.Val138Leu) c.316-198G>T (n.316-198G>T) c.189G>T (p.Val63=) | |
| 11 | g.5232996C= | CA1949563594 | HBD | c.412G= (p.Val138=) c.316-198G= (n.316-198G=) c.189G= (p.Val63=) | |
| 11 | g.5232996C>G | CA379276440 | HBD | c.412G>C (p.Val138Leu) c.316-198G>C (n.316-198G>C) c.189G>C (p.Val63=) | |
| 11 | g.5232996C>T | CA5839887 | HBD | c.412G>A (p.Val138Met) c.316-198G>A (n.316-198G>A) c.189G>A (p.Val63=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5232997A= | CA1949563600 | HBD | c.411T= (p.Gly137=) c.316-199T= (n.316-199T=) c.188T= (p.Val63=) | |
| 11 | g.5232997A>C | CA379276441 | HBD | c.411T>G (p.Gly137=) c.316-199T>G (n.316-199T>G) c.188T>G (p.Val63Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232997A>G | CA5839888 | HBD | c.411T>C (p.Gly137=) c.316-199T>C (n.316-199T>C) c.188T>C (p.Val63Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232997A>T | CA379276442 | HBD | c.411T>A (p.Gly137=) c.316-199T>A (n.316-199T>A) c.188T>A (p.Val63Glu) | dbSNP |
| 11 | g.5232998C>A | CA379276443 | HBD | c.410G>T (p.Gly137Val) c.316-200G>T (n.316-200G>T) c.187G>T (p.Val63Leu) | |
| 11 | g.5232998C= | CA1949563604 | HBD | c.410G= (p.Gly137=) c.316-200G= (n.316-200G=) c.187G= (p.Val63=) | |
| 11 | g.5232998C>G | CA379276444 | HBD | c.410G>C (p.Gly137Ala) c.316-200G>C (n.316-200G>C) c.187G>C (p.Val63Leu) | |
| 11 | g.5232998C>T | CA124637 | HBD | c.410G>A (p.Gly137Asp) c.316-200G>A (n.316-200G>A) c.187G>A (p.Val63Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232999C>A | CA379276445 | HBD | c.409G>T (p.Gly137Cys) c.316-201G>T (n.316-201G>T) c.186G>T (p.Leu62=) | |
| 11 | g.5232999C>G | CA379276447 | HBD | c.409G>C (p.Gly137Arg) c.316-201G>C (n.316-201G>C) c.186G>C (p.Leu62=) | |
| 11 | g.5232999C>T | CA379276446 | HBD | c.409G>A (p.Gly137Ser) c.316-201G>A (n.316-201G>A) c.186G>A (p.Leu62=) | |
| 11 | g.5233000A= | CA1949563608 | HBD | c.408T= (p.Ala136=) c.316-202T= (n.316-202T=) c.185T= (p.Leu62=) | |
| 11 | g.5233000A>C | CA379276448 | HBD | c.408T>G (p.Ala136=) c.316-202T>G (n.316-202T>G) c.185T>G (p.Leu62Arg) | |
| 11 | g.5233000A>G | CA5839889 | HBD | c.408T>C (p.Ala136=) c.316-202T>C (n.316-202T>C) c.185T>C (p.Leu62Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233000A>T | CA379276449 | HBD | c.408T>A (p.Ala136=) c.316-202T>A (n.316-202T>A) c.185T>A (p.Leu62Gln) | |
| 11 | g.5233001G>A | CA379276450 | HBD | c.407C>T (p.Ala136Val) c.316-203C>T (n.316-203C>T) c.184C>T (p.Leu62=) | |
| 11 | g.5233001G>C | CA379276451 | HBD | c.407C>G (p.Ala136Gly) c.316-203C>G (n.316-203C>G) c.184C>G (p.Leu62Val) | |
| 11 | g.5233001G>T | CA379276452 | HBD | c.407C>A (p.Ala136Asp) c.316-203C>A (n.316-203C>A) c.184C>A (p.Leu62Met) | |
| 11 | g.5233002C>A | CA379276453 | HBD | c.406G>T (p.Ala136Ser) c.316-204G>T (n.316-204G>T) c.183G>T (p.Trp61Cys) | dbSNP |
| 11 | g.5233002C= | CA1949563610 | HBD | c.406G= (p.Ala136=) c.316-204G= (n.316-204G=) c.183G= (p.Trp61=) | |
| 11 | g.5233002C>G | CA379276454 | HBD | c.406G>C (p.Ala136Pro) c.316-204G>C (n.316-204G>C) c.183G>C (p.Trp61Cys) | |
| 11 | g.5233002C>T | CA379276455 | HBD | c.406G>A (p.Ala136Thr) c.316-204G>A (n.316-204G>A) c.183G>A (p.Trp61Ter) | |
| 11 | g.5233003C>A | CA379276456 | HBD | c.405G>T (p.Val135=) c.316-205G>T (n.316-205G>T) c.182G>T (p.Trp61Leu) | dbSNP |
| 11 | g.5233003C= | CA1949563613 | HBD | c.405G= (p.Val135=) c.316-205G= (n.316-205G=) c.182G= (p.Trp61=) | |
| 11 | g.5233003C>G | CA379276457 | HBD | c.405G>C (p.Val135=) c.316-205G>C (n.316-205G>C) c.182G>C (p.Trp61Ser) | |
| 11 | g.5233003C>T | CA379276458 | HBD | c.405G>A (p.Val135=) c.316-205G>A (n.316-205G>A) c.182G>A (p.Trp61Ter) | |
| 11 | g.5233004A>C | CA379276459 | HBD | c.404T>G (p.Val135Gly) c.316-206T>G (n.316-206T>G) c.181T>G (p.Trp61Gly) | |
| 11 | g.5233004A>G | CA379276460 | HBD | c.404T>C (p.Val135Ala) c.316-206T>C (n.316-206T>C) c.181T>C (p.Trp61Arg) | |
| 11 | g.5233004A>T | CA379276461 | HBD | c.404T>A (p.Val135Glu) c.316-206T>A (n.316-206T>A) c.181T>A (p.Trp61Arg) | |
| 11 | g.5233005C>A | CA379276462 | HBD | c.403G>T (p.Val135Leu) c.316-207G>T (n.316-207G>T) c.180G>T (p.Trp60Cys) | |
| 11 | g.5233005C>G | CA379276464 | HBD | c.403G>C (p.Val135Leu) c.316-207G>C (n.316-207G>C) c.180G>C (p.Trp60Cys) | |
| 11 | g.5233005C>T | CA379276463 | HBD | c.403G>A (p.Val135Met) c.316-207G>A (n.316-207G>A) c.180G>A (p.Trp60Ter) | |
| 11 | g.5233006C>A | CA379276465 | HBD | c.402G>T (p.Val134=) c.316-208G>T (n.316-208G>T) c.179G>T (p.Trp60Leu) | |
| 11 | g.5233006C= | CA1949563617 | HBD | c.402G= (p.Val134=) c.316-208G= (n.316-208G=) c.179G= (p.Trp60=) | |
| 11 | g.5233006C>G | CA379276466 | HBD | c.402G>C (p.Val134=) c.316-208G>C (n.316-208G>C) c.179G>C (p.Trp60Ser) | |
| 11 | g.5233006C>T | CA379276467 | HBD | c.402G>A (p.Val134=) c.316-208G>A (n.316-208G>A) c.179G>A (p.Trp60Ter) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5233007A= | CA1949563619 | HBD | c.401T= (p.Val134=) c.316-209T= (n.316-209T=) c.178T= (p.Trp60=) | |
| 11 | g.5233007A>C | CA379276468 | HBD | c.401T>G (p.Val134Gly) c.316-209T>G (n.316-209T>G) c.178T>G (p.Trp60Gly) | |
| 11 | g.5233007A>G | CA124709 | HBD | c.401T>C (p.Val134Ala) c.316-209T>C (n.316-209T>C) c.178T>C (p.Trp60Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5233007A>T | CA379276469 | HBD | c.401T>A (p.Val134Glu) c.316-209T>A (n.316-209T>A) c.178T>A (p.Trp60Arg) | |
| 11 | g.5233008C>A | CA379276470 | HBD | c.400G>T (p.Val134Leu) c.316-210G>T (n.316-210G>T) c.177G>T (p.Arg59Ser) | |
| 11 | g.5233008C= | CA1949563624 | HBD | c.400G= (p.Val134=) c.316-210G= (n.316-210G=) c.177G= (p.Arg59=) | |
| 11 | g.5233008C>G | CA379276471 | HBD | c.400G>C (p.Val134Leu) c.316-210G>C (n.316-210G>C) c.177G>C (p.Arg59Ser) | gnomAD v4 |
| 11 | g.5233008C>T | CA5839890 | HBD | c.400G>A (p.Val134Met) c.316-210G>A (n.316-210G>A) c.177G>A (p.Arg59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233009C>A | CA379276474 | HBD | c.399G>T (p.Lys133Asn) c.316-211G>T (n.316-211G>T) c.176G>T (p.Arg59Met) | |
| 11 | g.5233009C>G | CA379276473 | HBD | c.399G>C (p.Lys133Asn) c.316-211G>C (n.316-211G>C) c.176G>C (p.Arg59Thr) | |
| 11 | g.5233009C>T | CA379276472 | HBD | c.399G>A (p.Lys133=) c.316-211G>A (n.316-211G>A) c.176G>A (p.Arg59Lys) | gnomAD v4 |
| 11 | g.5233010T>A | CA379276475 | HBD | c.398A>T (p.Lys133Met) c.316-212A>T (n.316-212A>T) c.175A>T (p.Arg59Trp) | |
| 11 | g.5233010T>C | CA379276476 | HBD | c.398A>G (p.Lys133Arg) c.316-212A>G (n.316-212A>G) c.175A>G (p.Arg59Gly) | |
| 11 | g.5233010T>G | CA379276477 | HBD | c.398A>C (p.Lys133Thr) c.316-212A>C (n.316-212A>C) c.175A>C (p.Arg59=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233010T= | CA1949563625 | HBD | c.398A= (p.Lys133=) c.316-212A= (n.316-212A=) c.175A= (p.Arg59=) | |
| 11 | g.5233011T>A | CA379276478 | HBD | c.397A>T (p.Lys133Ter) c.316-213A>T (n.316-213A>T) c.174A>T (p.Arg58Ser) | |
| 11 | g.5233011T>C | CA379276479 | HBD | c.397A>G (p.Lys133Glu) c.316-213A>G (n.316-213A>G) c.174A>G (p.Arg58=) | |
| 11 | g.5233011T>G | CA379276480 | HBD | c.397A>C (p.Lys133Gln) c.316-213A>C (n.316-213A>C) c.174A>C (p.Arg58Ser) |