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.5233933A= | CA1949564755 | HBD | c.315+58T= (n.315+58T=) c.92+409T= (n.92+409T=) | |
| 11 | g.5233933A>C | CA217123735 | HBD | c.315+58T>G (n.315+58T>G) c.92+409T>G (n.92+409T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5233935C>A | CA2574735645 | HBD | c.315+56G>T (n.315+56G>T) c.92+407G>T (n.92+407G>T) | gnomAD v4 |
| 11 | g.5233936C>A | CA934688726 | HBD | c.315+55G>T (n.315+55G>T) c.92+406G>T (n.92+406G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5233936C= | CA1949564757 | HBD | c.315+55G= (n.315+55G=) c.92+406G= (n.92+406G=) | |
| 11 | g.5233936C>G | CA2612148754 | HBD | c.315+55G>C (n.315+55G>C) c.92+406G>C (n.92+406G>C) | gnomAD v4 |
| 11 | g.5233937A= | CA1949564758 | HBD | c.315+54T= (n.315+54T=) c.92+405T= (n.92+405T=) | |
| 11 | g.5233937A>C | CA597436159 | HBD | c.315+54T>G (n.315+54T>G) c.92+405T>G (n.92+405T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233937A>G | CA2574735646 | HBD | c.315+54T>C (n.315+54T>C) c.92+405T>C (n.92+405T>C) | |
| 11 | g.5233940_5233941delinsAT | CA1949564761 | HBD | c.315+50_315+51delinsAT (n.315+50_315+51delinsAT) c.92+401_92+402delinsAT (n.92+401_92+402delinsAT) | |
| 11 | g.5233941del | CA1949564765 | HBD | c.315+50del (n.315+50del) c.92+401del (n.92+401del) | dbSNP |
| 11 | g.5233941T>A | CA1949564768 | HBD | c.315+50A>T (n.315+50A>T) c.92+401A>T (n.92+401A>T) | dbSNP |
| 11 | g.5233941T>C | CA597436160 | HBD | c.315+50A>G (n.315+50A>G) c.92+401A>G (n.92+401A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233941T= | CA1949564766 | HBD | c.315+50A= (n.315+50A=) c.92+401A= (n.92+401A=) | |
| 11 | g.5233942G>A | CA2612148759 | HBD | c.315+49C>T (n.315+49C>T) c.92+400C>T (n.92+400C>T) | gnomAD v4 |
| 11 | g.5233944A= | CA1949564773 | HBD | c.315+47T= (n.315+47T=) c.92+398T= (n.92+398T=) | |
| 11 | g.5233944A>G | CA5839915 | HBD | c.315+47T>C (n.315+47T>C) c.92+398T>C (n.92+398T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233944A>T | CA5839916 | HBD | c.315+47T>A (n.315+47T>A) c.92+398T>A (n.92+398T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233945del | CA2574735647 | HBD | c.315+47del (n.315+47del) c.92+398del (n.92+398del) | |
| 11 | g.5233945A= | CA1949564779 | HBD | c.315+46T= (n.315+46T=) c.92+397T= (n.92+397T=) | |
| 11 | g.5233945A>G | CA2612148760 | HBD | c.315+46T>C (n.315+46T>C) c.92+397T>C (n.92+397T>C) | gnomAD v4 |
| 11 | g.5233945A>T | CA217123739 | HBD | c.315+46T>A (n.315+46T>A) c.92+397T>A (n.92+397T>A) | dbSNP |
| 11 | g.5233946G= | CA1949564781 | HBD | c.315+45C= (n.315+45C=) c.92+396C= (n.92+396C=) | |
| 11 | g.5233946G>T | CA677545614 | HBD | c.315+45C>A (n.315+45C>A) c.92+396C>A (n.92+396C>A) | dbSNP gnomAD v4 |
| 11 | g.5233947A>G | CA2612148761 | HBD | c.315+44T>C (n.315+44T>C) c.92+395T>C (n.92+395T>C) | gnomAD v4 |
| 11 | g.5233948T>C | CA5839917 | HBD | c.315+43A>G (n.315+43A>G) c.92+394A>G (n.92+394A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233948T= | CA1949564784 | HBD | c.315+43A= (n.315+43A=) c.92+394A= (n.92+394A=) | |
| 11 | g.5233949T>G | CA2612148762 | HBD | c.315+42A>C (n.315+42A>C) c.92+393A>C (n.92+393A>C) | gnomAD v4 |
| 11 | g.5233951G>C | CA5839918 | HBD | c.315+40C>G (n.315+40C>G) c.92+391C>G (n.92+391C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233951G= | CA1949564790 | HBD | c.315+40C= (n.315+40C=) c.92+391C= (n.92+391C=) | |
| 11 | g.5233951G>T | CA2612148763 | HBD | c.315+40C>A (n.315+40C>A) c.92+391C>A (n.92+391C>A) | gnomAD v4 |
| 11 | g.5233952A= | CA1949564794 | HBD | c.315+39T= (n.315+39T=) c.92+390T= (n.92+390T=) | |
| 11 | g.5233952A>G | CA5839919 | HBD | c.315+39T>C (n.315+39T>C) c.92+390T>C (n.92+390T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233953A= | CA1949564796 | HBD | c.315+38T= (n.315+38T=) c.92+389T= (n.92+389T=) | |
| 11 | g.5233953A>C | CA597436163 | HBD | c.315+38T>G (n.315+38T>G) c.92+389T>G (n.92+389T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233954A= | CA1949564797 | HBD | c.315+37T= (n.315+37T=) c.92+388T= (n.92+388T=) | |
| 11 | g.5233954A>T | CA934688727 | HBD | c.315+37T>A (n.315+37T>A) c.92+388T>A (n.92+388T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5233956T>C | CA2612148764 | HBD | c.315+35A>G (n.315+35A>G) c.92+386A>G (n.92+386A>G) | gnomAD v4 |
| 11 | g.5233956T>G | CA2612148765 | HBD | c.315+35A>C (n.315+35A>C) c.92+386A>C (n.92+386A>C) | gnomAD v4 |
| 11 | g.5233956_5233960delinsTAAAA | CA1949564799 | HBD | c.315+31_315+35delinsTTTTA (n.315+31_315+35delinsTTTTA) c.92+382_92+386delinsTTTTA (n.92+382_92+386delinsTTTTA) | |
| 11 | g.5233957A>G | CA653938463 | HBD | c.315+34T>C (n.315+34T>C) c.92+385T>C (n.92+385T>C) | gnomAD v4 COSMIC |
| 11 | g.5233957A>T | CA2574735648 | HBD | c.315+34T>A (n.315+34T>A) c.92+385T>A (n.92+385T>A) | gnomAD v4 |
| 11 | g.5233961del | CA2612148766 | HBD | c.315+34del (n.315+34del) c.92+385del (n.92+385del) | gnomAD v4 |
| 11 | g.5233958_5233961del | CA5839920 | HBD | c.315+31_315+34del (n.315+31_315+34del) c.92+382_92+385del (n.92+382_92+385del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233959A>C | CA2574735649 | HBD | c.315+32T>G (n.315+32T>G) c.92+383T>G (n.92+383T>G) | |
| 11 | g.5233961A= | CA1949564802 | HBD | c.315+30T= (n.315+30T=) c.92+381T= (n.92+381T=) | |
| 11 | g.5233961A>T | CA597436164 | HBD | c.315+30T>A (n.315+30T>A) c.92+381T>A (n.92+381T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233963A= | CA1949564805 | HBD | c.315+28T= (n.315+28T=) c.92+379T= (n.92+379T=) | |
| 11 | g.5233963A>G | CA934688728 | HBD | c.315+28T>C (n.315+28T>C) c.92+379T>C (n.92+379T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5233963_5233977delinsAGAAAAGTGAAGCAT | CA1949564807 | HBD | c.315+14_315+28delinsATGCTTCACTTTTCT (n.315+14_315+28delinsATGCTTCACTTTTCT) c.92+365_92+379delinsATGCTTCACTTTTCT (n.92+365_92+379delinsATGCTTCACTTTTCT) | |
| 11 | g.5233964G>C | CA2500634536 | HBD | c.315+27C>G (n.315+27C>G) c.92+378C>G (n.92+378C>G) | gnomAD v4 |
| 11 | g.5233964_5233977del | CA5839921 | HBD | c.315+14_315+27del (n.315+14_315+27del) c.92+365_92+378del (n.92+365_92+378del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233965A>T | CA2612148769 | HBD | c.315+26T>A (n.315+26T>A) c.92+377T>A (n.92+377T>A) | gnomAD v4 |
| 11 | g.5233968del | CA2574735650 | HBD | c.315+26del (n.315+26del) c.92+377del (n.92+377del) | |
| 11 | g.5233967A>C | CA472885869 | HBD | c.315+24T>G (n.315+24T>G) c.92+375T>G (n.92+375T>G) | |
| 11 | g.5233970_5233974del | CA2612148770 | HBD | c.315+20_315+24del (n.315+20_315+24del) c.92+371_92+375del (n.92+371_92+375del) | gnomAD v4 |
| 11 | g.5233969G>A | CA2612148771 | HBD | c.315+22C>T (n.315+22C>T) c.92+373C>T (n.92+373C>T) | gnomAD v4 |
| 11 | g.5233973A= | CA1949564809 | HBD | c.315+18T= (n.315+18T=) c.92+369T= (n.92+369T=) | |
| 11 | g.5233973A>G | CA677545622 | HBD | c.315+18T>C (n.315+18T>C) c.92+369T>C (n.92+369T>C) | dbSNP gnomAD v4 |
| 11 | g.5233974G>T | CA2612148772 | HBD | c.315+17C>A (n.315+17C>A) c.92+368C>A (n.92+368C>A) | gnomAD v4 |
| 11 | g.5233975C= | CA1949564814 | HBD | c.315+16G= (n.315+16G=) c.92+367G= (n.92+367G=) | |
| 11 | g.5233975C>T | CA5839922 | HBD | c.315+16G>A (n.315+16G>A) c.92+367G>A (n.92+367G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233976A= | CA1949564817 | HBD | c.315+15T= (n.315+15T=) c.92+366T= (n.92+366T=) | |
| 11 | g.5233976A>G | CA597436165 | HBD | c.315+15T>C (n.315+15T>C) c.92+366T>C (n.92+366T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233977T>A | CA597436166 | HBD | c.315+14A>T (n.315+14A>T) c.92+365A>T (n.92+365A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233977T= | CA1949564821 | HBD | c.315+14A= (n.315+14A=) c.92+365A= (n.92+365A=) | |
| 11 | g.5233980C>T | CA2612148773 | HBD | c.315+11G>A (n.315+11G>A) c.92+362G>A (n.92+362G>A) | gnomAD v4 |
| 11 | g.5233983G>T | CA2574735652 | HBD | c.315+8C>A (n.315+8C>A) c.92+359C>A (n.92+359C>A) | |
| 11 | g.5233984del | CA2574735651 | HBD | c.315+8del (n.315+8del) c.92+359del (n.92+359del) | |
| 11 | g.5233984G>A | CA2612148774 | HBD | c.315+7C>T (n.315+7C>T) c.92+358C>T (n.92+358C>T) | gnomAD v4 |
| 11 | g.5233984G= | CA1949564823 | HBD | c.315+7C= (n.315+7C=) c.92+358C= (n.92+358C=) | |
| 11 | g.5233984G>T | CA5839923 | HBD | c.315+7C>A (n.315+7C>A) c.92+358C>A (n.92+358C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233985A= | CA1949564830 | HBD | c.315+6T= (n.315+6T=) c.92+357T= (n.92+357T=) | |
| 11 | g.5233985A>G | CA2790274368 | HBD | c.315+6T>C (n.315+6T>C) c.92+357T>C (n.92+357T>C) | |
| 11 | g.5233985A>T | CA124707 | HBD | c.315+6T>A (n.315+6T>A) c.92+357T>A (n.92+357T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233987T>C | CA5839924 | HBD | c.315+4A>G (n.315+4A>G) c.92+355A>G (n.92+355A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233987T= | CA1949564835 | HBD | c.315+4A= (n.315+4A=) c.92+355A= (n.92+355A=) | |
| 11 | g.5233988C= | CA1949564841 | HBD | c.315+3G= (n.315+3G=) c.92+354G= (n.92+354G=) | |
| 11 | g.5233988C>G | CA597436167 | HBD | c.315+3G>C (n.315+3G>C) c.92+354G>C (n.92+354G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233988C>T | CA5839925 | HBD | c.315+3G>A (n.315+3G>A) c.92+354G>A (n.92+354G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233989A>C | CA379276701 | HBD | c.315+2T>G (n.315+2T>G) c.92+353T>G (n.92+353T>G) | COSMIC |
| 11 | g.5233989A>G | CA379276702 | HBD | c.315+2T>C (n.315+2T>C) c.92+353T>C (n.92+353T>C) | |
| 11 | g.5233989A>T | CA379276703 | HBD | c.315+2T>A (n.315+2T>A) c.92+353T>A (n.92+353T>A) | |
| 11 | g.5233990C>A | CA379276704 | HBD | c.315+1G>T (n.315+1G>T) c.92+352G>T (n.92+352G>T) | |
| 11 | g.5233990C= | CA1949564848 | HBD | c.315+1G= (n.315+1G=) c.92+352G= (n.92+352G=) | |
| 11 | g.5233990C>G | CA379276705 | HBD | c.315+1G>C (n.315+1G>C) c.92+352G>C (n.92+352G>C) | |
| 11 | g.5233990C>T | CA5839926 | HBD | c.315+1G>A (n.315+1G>A) c.92+352G>A (n.92+352G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233991C>A | CA124705 | HBD | c.315G>T (p.Arg105Ser) c.92+351G>T (n.92+351G>T) | ClinVar dbSNP |
| 11 | g.5233991C= | CA1949564854 | HBD | c.315G= (p.Arg105=) c.92+351G= (n.92+351G=) | |
| 11 | g.5233991C>G | CA379276706 | HBD | c.315G>C (p.Arg105Ser) c.92+351G>C (n.92+351G>C) | |
| 11 | g.5233991C>T | CA472885870 | HBD | c.315G>A (p.Arg105=) c.92+351G>A (n.92+351G>A) | dbSNP gnomAD v4 |
| 11 | g.5233992C>A | CA379276707 | HBD | c.314G>T (p.Arg105Met) c.92+350G>T (n.92+350G>T) | |
| 11 | g.5233992C= | CA1949564861 | HBD | c.314G= (p.Arg105=) c.92+350G= (n.92+350G=) | |
| 11 | g.5233992C>G | CA379276708 | HBD | c.314G>C (p.Arg105Thr) c.92+350G>C (n.92+350G>C) | |
| 11 | g.5233992C>T | CA5839927 | HBD | c.314G>A (p.Arg105Lys) c.92+350G>A (n.92+350G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233993T>A | CA379276710 | HBD | c.313A>T (p.Arg105Trp) c.92+349A>T (n.92+349A>T) c.313A>T | |
| 11 | g.5233993T>C | CA379276709 | HBD | c.313A>G (p.Arg105Gly) c.92+349A>G (n.92+349A>G) c.313A>G | COSMIC |
| 11 | g.5233993T>G | CA472885871 | HBD | c.313A>C (p.Arg105=) c.92+349A>C (n.92+349A>C) c.313A>C | dbSNP |
| 11 | g.5233993T= | CA1949564865 | HBD | c.313A= (p.Arg105=) c.92+349A= (n.92+349A=) c.313A= | |
| 11 | g.5233994G>A | CA472885872 | HBD | c.312C>T (p.Phe104=) c.92+348C>T (n.92+348C>T) | |
| 11 | g.5233994G>C | CA379276711 | HBD | c.312C>G (p.Phe104Leu) c.92+348C>G (n.92+348C>G) | |
| 11 | g.5233994G>T | CA379276712 | HBD | c.312C>A (p.Phe104Leu) c.92+348C>A (n.92+348C>A) | |
| 11 | g.5233995A>C | CA379276713 | HBD | c.311T>G (p.Phe104Cys) c.92+347T>G (n.92+347T>G) | |
| 11 | g.5233995A>G | CA379276714 | HBD | c.311T>C (p.Phe104Ser) c.92+347T>C (n.92+347T>C) | |
| 11 | g.5233995A>T | CA379276715 | HBD | c.311T>A (p.Phe104Tyr) c.92+347T>A (n.92+347T>A) | |
| 11 | g.5233996A>C | CA379276716 | HBD | c.310T>G (p.Phe104Val) c.92+346T>G (n.92+346T>G) | |
| 11 | g.5233996A>G | CA379276717 | HBD | c.310T>C (p.Phe104Leu) c.92+346T>C (n.92+346T>C) | |
| 11 | g.5233996A>T | CA379276718 | HBD | c.310T>A (p.Phe104Ile) c.92+346T>A (n.92+346T>A) | |
| 11 | g.5233997G>A | CA472885873 | HBD | c.309C>T (p.Asn103=) c.92+345C>T (n.92+345C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233997G>C | CA379276719 | HBD | c.309C>G (p.Asn103Lys) c.92+345C>G (n.92+345C>G) | |
| 11 | g.5233997G= | CA1949564868 | HBD | c.309C= (p.Asn103=) c.92+345C= (n.92+345C=) | |
| 11 | g.5233997G>T | CA379276720 | HBD | c.309C>A (p.Asn103Lys) c.92+345C>A (n.92+345C>A) | |
| 11 | g.5233998T>A | CA379276721 | HBD | c.308A>T (p.Asn103Ile) c.92+344A>T (n.92+344A>T) | |
| 11 | g.5233998T>C | CA379276722 | HBD | c.308A>G (p.Asn103Ser) c.92+344A>G (n.92+344A>G) | |
| 11 | g.5233998T>G | CA379276723 | HBD | c.308A>C (p.Asn103Thr) c.92+344A>C (n.92+344A>C) | |
| 11 | g.5233999T>A | CA379276725 | HBD | c.307A>T (p.Asn103Tyr) c.92+343A>T (n.92+343A>T) | |
| 11 | g.5233999T>C | CA379276726 | HBD | c.307A>G (p.Asn103Asp) c.92+343A>G (n.92+343A>G) | |
| 11 | g.5233999T>G | CA379276724 | HBD | c.307A>C (p.Asn103His) c.92+343A>C (n.92+343A>C) | |
| 11 | g.5234000C>A | CA379276728 | HBD | c.306G>T (p.Glu102Asp) c.92+342G>T (n.92+342G>T) | COSMIC |
| 11 | g.5234000C= | CA1949564871 | HBD | c.306G= (p.Glu102=) c.92+342G= (n.92+342G=) | |
| 11 | g.5234000C>G | CA379276727 | HBD | c.306G>C (p.Glu102Asp) c.92+342G>C (n.92+342G>C) | gnomAD v4 |
| 11 | g.5234000C>T | CA472885874 | HBD | c.306G>A (p.Glu102=) c.92+342G>A (n.92+342G>A) | dbSNP gnomAD v4 |
| 11 | g.5234001T>A | CA379276729 | HBD | c.305A>T (p.Glu102Val) c.92+341A>T (n.92+341A>T) | |
| 11 | g.5234001T>C | CA379276730 | HBD | c.305A>G (p.Glu102Gly) c.92+341A>G (n.92+341A>G) | dbSNP |
| 11 | g.5234001T>G | CA379276731 | HBD | c.305A>C (p.Glu102Ala) c.92+341A>C (n.92+341A>C) | |
| 11 | g.5234001T= | CA1949564874 | HBD | c.305A= (p.Glu102=) c.92+341A= (n.92+341A=) | |
| 11 | g.5234002C>A | CA379276732 | HBD | c.304G>T (p.Glu102Ter) c.92+340G>T (n.92+340G>T) | |
| 11 | g.5234002C>G | CA379276733 | HBD | c.304G>C (p.Glu102Gln) c.92+340G>C (n.92+340G>C) | |
| 11 | g.5234002C>T | CA379276734 | HBD | c.304G>A (p.Glu102Lys) c.92+340G>A (n.92+340G>A) | |
| 11 | g.5234003A>C | CA472885875 | HBD | c.303T>G (p.Pro101=) c.92+339T>G (n.92+339T>G) | |
| 11 | g.5234003A>G | CA472885876 | HBD | c.303T>C (p.Pro101=) c.92+339T>C (n.92+339T>C) | |
| 11 | g.5234003A>T | CA472885877 | HBD | c.303T>A (p.Pro101=) c.92+339T>A (n.92+339T>A) | |
| 11 | g.5234004G>A | CA379276735 | HBD | c.302C>T (p.Pro101Leu) c.92+338C>T (n.92+338C>T) | gnomAD v4 |
| 11 | g.5234004G>C | CA379276736 | HBD | c.302C>G (p.Pro101Arg) c.92+338C>G (n.92+338C>G) | |
| 11 | g.5234004G>T | CA379276737 | HBD | c.302C>A (p.Pro101His) c.92+338C>A (n.92+338C>A) | |
| 11 | g.5234005G>A | CA5839928 | HBD | c.301C>T (p.Pro101Ser) c.92+337C>T (n.92+337C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5234005G>C | CA379276738 | HBD | c.301C>G (p.Pro101Ala) c.92+337C>G (n.92+337C>G) | gnomAD v4 |
| 11 | g.5234005G= | CA1949564879 | HBD | c.301C= (p.Pro101=) c.92+337C= (n.92+337C=) | |
| 11 | g.5234005G>T | CA379276739 | HBD | c.301C>A (p.Pro101Thr) c.92+337C>A (n.92+337C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234006A= | CA1949564884 | HBD | c.300T= (p.Asp100=) c.92+336T= (n.92+336T=) | |
| 11 | g.5234006A>C | CA379276740 | HBD | c.300T>G (p.Asp100Glu) c.92+336T>G (n.92+336T>G) | |
| 11 | g.5234006A>G | CA472885878 | HBD | c.300T>C (p.Asp100=) c.92+336T>C (n.92+336T>C) | dbSNP gnomAD v2 |
| 11 | g.5234006A>T | CA379276741 | HBD | c.300T>A (p.Asp100Glu) c.92+336T>A (n.92+336T>A) | |
| 11 | g.5234007T>A | CA379276742 | HBD | c.299A>T (p.Asp100Val) c.92+335A>T (n.92+335A>T) | |
| 11 | g.5234007T>C | CA379276743 | HBD | c.299A>G (p.Asp100Gly) c.92+335A>G (n.92+335A>G) | |
| 11 | g.5234007T>G | CA379276744 | HBD | c.299A>C (p.Asp100Ala) c.92+335A>C (n.92+335A>C) | |
| 11 | g.5234008C>A | CA379276745 | HBD | c.298G>T (p.Asp100Tyr) c.92+334G>T (n.92+334G>T) | COSMIC |
| 11 | g.5234008C= | CA1949564889 | HBD | c.298G= (p.Asp100=) c.92+334G= (n.92+334G=) | |
| 11 | g.5234008C>G | CA379276746 | HBD | c.298G>C (p.Asp100His) c.92+334G>C (n.92+334G>C) | |
| 11 | g.5234008C>T | CA124639 | HBD | c.298G>A (p.Asp100Asn) c.92+334G>A (n.92+334G>A) | ClinVar dbSNP COSMIC |
| 11 | g.5234009C>A | CA472885883 | HBD | c.297G>T (p.Val99=) c.92+333G>T (n.92+333G>T) | gnomAD v4 |
| 11 | g.5234009C>G | CA472885885 | HBD | c.297G>C (p.Val99=) c.92+333G>C (n.92+333G>C) | |
| 11 | g.5234009C>T | CA472885886 | HBD | c.297G>A (p.Val99=) c.92+333G>A (n.92+333G>A) | gnomAD v4 |
| 11 | g.5234010A= | CA1949564897 | HBD | c.296T= (p.Val99=) c.92+332T= (n.92+332T=) | |
| 11 | g.5234010A>C | CA379276747 | HBD | c.296T>G (p.Val99Gly) c.92+332T>G (n.92+332T>G) | |
| 11 | g.5234010A>G | CA379276748 | HBD | c.296T>C (p.Val99Ala) c.92+332T>C (n.92+332T>C) | |
| 11 | g.5234010A>T | CA379276749 | HBD | c.296T>A (p.Val99Glu) c.92+332T>A (n.92+332T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234011C>A | CA379276750 | HBD | c.295G>T (p.Val99Leu) c.92+331G>T (n.92+331G>T) | |
| 11 | g.5234011C= | CA1949564903 | HBD | c.295G= (p.Val99=) c.92+331G= (n.92+331G=) | |
| 11 | g.5234011C>G | CA379276751 | HBD | c.295G>C (p.Val99Leu) c.92+331G>C (n.92+331G>C) | gnomAD v4 |
| 11 | g.5234011C>T | CA124663 | HBD | c.295G>A (p.Val99Met) c.92+331G>A (n.92+331G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234012G>A | CA5839929 | HBD | c.294C>T (p.His98=) c.92+330C>T (n.92+330C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234012G>C | CA379276753 | HBD | c.294C>G (p.His98Gln) c.92+330C>G (n.92+330C>G) | gnomAD v4 |
| 11 | g.5234012G= | CA1949564914 | HBD | c.294C= (p.His98=) c.92+330C= (n.92+330C=) | |
| 11 | g.5234012G>T | CA379276752 | HBD | c.294C>A (p.His98Gln) c.92+330C>A (n.92+330C>A) | |
| 11 | g.5234013T>A | CA379276754 | HBD | c.293A>T (p.His98Leu) c.92+329A>T (n.92+329A>T) | |
| 11 | g.5234013T>C | CA217123791 | HBD | c.293A>G (p.His98Arg) c.92+329A>G (n.92+329A>G) | dbSNP gnomAD v4 |
| 11 | g.5234013T>G | CA379276755 | HBD | c.293A>C (p.His98Pro) c.92+329A>C (n.92+329A>C) | |
| 11 | g.5234013T= | CA1949564920 | HBD | c.293A= (p.His98=) c.92+329A= (n.92+329A=) | |
| 11 | g.5234014G>A | CA379276756 | HBD | c.292C>T (p.His98Tyr) c.92+328C>T (n.92+328C>T) | dbSNP gnomAD v4 |
| 11 | g.5234014G>C | CA379276757 | HBD | c.292C>G (p.His98Asp) c.92+328C>G (n.92+328C>G) | gnomAD v4 |
| 11 | g.5234014G= | CA1949564927 | HBD | c.292C= (p.His98=) c.92+328C= (n.92+328C=) | |
| 11 | g.5234014G>T | CA379276758 | HBD | c.292C>A (p.His98Asn) c.92+328C>A (n.92+328C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234015C>A | CA472885891 | HBD | c.291G>T (p.Leu97=) c.92+327G>T (n.92+327G>T) | dbSNP gnomAD v2 |
| 11 | g.5234015C= | CA1949564929 | HBD | c.291G= (p.Leu97=) c.92+327G= (n.92+327G=) | |
| 11 | g.5234015C>G | CA472885892 | HBD | c.291G>C (p.Leu97=) c.92+327G>C (n.92+327G>C) | |
| 11 | g.5234015C>T | CA472885893 | HBD | c.291G>A (p.Leu97=) c.92+327G>A (n.92+327G>A) | |
| 11 | g.5234016A>C | CA379276759 | HBD | c.290T>G (p.Leu97Arg) c.92+326T>G (n.92+326T>G) | |
| 11 | g.5234016A>G | CA379276760 | HBD | c.290T>C (p.Leu97Pro) c.92+326T>C (n.92+326T>C) | |
| 11 | g.5234016A>T | CA379276761 | HBD | c.290T>A (p.Leu97Gln) c.92+326T>A (n.92+326T>A) | |
| 11 | g.5234017G>A | CA5839930 | HBD | c.289C>T (p.Leu97=) c.92+325C>T (n.92+325C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234017G>C | CA379276762 | HBD | c.289C>G (p.Leu97Val) c.92+325C>G (n.92+325C>G) | |
| 11 | g.5234017G= | CA1949564932 | HBD | c.289C= (p.Leu97=) c.92+325C= (n.92+325C=) | |
| 11 | g.5234017G>T | CA379276763 | HBD | c.289C>A (p.Leu97Met) c.92+325C>A (n.92+325C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234018C>A | CA379276764 | HBD | c.288G>T (p.Lys96Asn) c.92+324G>T (n.92+324G>T) | |
| 11 | g.5234018C= | CA1949564934 | HBD | c.288G= (p.Lys96=) c.92+324G= (n.92+324G=) | |
| 11 | g.5234018C>G | CA379276765 | HBD | c.288G>C (p.Lys96Asn) c.92+324G>C (n.92+324G>C) | dbSNP |
| 11 | g.5234018C>T | CA472885897 | HBD | c.288G>A (p.Lys96=) c.92+324G>A (n.92+324G>A) | |
| 11 | g.5234019T>A | CA379276768 | HBD | c.287A>T (p.Lys96Met) c.92+323A>T (n.92+323A>T) | |
| 11 | g.5234019T>C | CA379276767 | HBD | c.287A>G (p.Lys96Arg) c.92+323A>G (n.92+323A>G) | |
| 11 | g.5234019T>G | CA379276766 | HBD | c.287A>C (p.Lys96Thr) c.92+323A>C (n.92+323A>C) | |
| 11 | g.5234020T>A | CA379276769 | HBD | c.286A>T (p.Lys96Ter) c.92+322A>T (n.92+322A>T) | |
| 11 | g.5234020T>C | CA379276770 | HBD | c.286A>G (p.Lys96Glu) c.92+322A>G (n.92+322A>G) | |
| 11 | g.5234020T>G | CA379276771 | HBD | c.286A>C (p.Lys96Gln) c.92+322A>C (n.92+322A>C) | |
| 11 | g.5234021G>A | CA472885900 | HBD | c.285C>T (p.Asp95=) c.92+321C>T (n.92+321C>T) | gnomAD v4 COSMIC |
| 11 | g.5234021G>C | CA379276772 | HBD | c.285C>G (p.Asp95Glu) c.92+321C>G (n.92+321C>G) | |
| 11 | g.5234021G>T | CA379276773 | HBD | c.285C>A (p.Asp95Glu) c.92+321C>A (n.92+321C>A) | COSMIC |
| 11 | g.5234022T>A | CA379276774 | HBD | c.284A>T (p.Asp95Val) c.92+320A>T (n.92+320A>T) | |
| 11 | g.5234022T>C | CA379276775 | HBD | c.284A>G (p.Asp95Gly) c.92+320A>G (n.92+320A>G) | |
| 11 | g.5234022T>G | CA379276776 | HBD | c.284A>C (p.Asp95Ala) c.92+320A>C (n.92+320A>C) | |
| 11 | g.5234023C>A | CA379276777 | HBD | c.283G>T (p.Asp95Tyr) c.92+319G>T (n.92+319G>T) | |
| 11 | g.5234023C= | CA1949564937 | HBD | c.283G= (p.Asp95=) c.92+319G= (n.92+319G=) | |
| 11 | g.5234023C>G | CA217123796 | HBD | c.283G>C (p.Asp95His) c.92+319G>C (n.92+319G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234023C>T | CA379276778 | HBD | c.283G>A (p.Asp95Asn) c.92+319G>A (n.92+319G>A) | |
| 11 | g.5234024A= | CA1949564944 | HBD | c.282T= (p.Cys94=) c.92+318T= (n.92+318T=) | |
| 11 | g.5234024A>C | CA379276779 | HBD | c.282T>G (p.Cys94Trp) c.92+318T>G (n.92+318T>G) | |
| 11 | g.5234024A>G | CA472885903 | HBD | c.282T>C (p.Cys94=) c.92+318T>C (n.92+318T>C) | |
| 11 | g.5234024A>T | CA379276780 | HBD | c.282T>A (p.Cys94Ter) c.92+318T>A (n.92+318T>A) | |
| 11 | g.5234024_5234025insTTTTA | CA1949564940 | HBD | c.282_283insAAAAT (p.Asp95LysfsTer?) c.282_283insAAAAT (p.Asp95LysfsTer24) c.92+318_92+319insAAAAT (n.92+318_92+319insAAAAT) | dbSNP |
| 11 | g.5234024_5234025insTTTTACTATATTTTAT | CA1949564949 | HBD | c.281_282insATAAAATATAGTAAAA (p.Cys94Ter) c.92+317_92+318insATAAAATATAGTAAAA (n.92+317_92+318insATAAAATATAGTAAAA) | dbSNP |
| 11 | g.5234025C>A | CA379276783 | HBD | c.281G>T (p.Cys94Phe) c.92+317G>T (n.92+317G>T) | |
| 11 | g.5234025C= | CA1949564950 | HBD | c.281G= (p.Cys94=) c.92+317G= (n.92+317G=) | |
| 11 | g.5234025C>G | CA379276782 | HBD | c.281G>C (p.Cys94Ser) c.92+317G>C (n.92+317G>C) | |
| 11 | g.5234025C>T | CA379276781 | HBD | c.281G>A (p.Cys94Tyr) c.92+317G>A (n.92+317G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234025_5234026insTATATTTTATCATTT | CA1949564957 | HBD | c.280_281insAAATGATAAAATATA (p.Cys94Ter) c.92+316_92+317insAAATGATAAAATATA (n.92+316_92+317insAAATGATAAAATATA) | dbSNP |
| 11 | g.5234026A= | CA1949564955 | HBD | c.280T= (p.Cys94=) c.92+316T= (n.92+316T=) | |
| 11 | g.5234026A>C | CA124693 | HBD | c.280T>G (p.Cys94Gly) c.92+316T>G (n.92+316T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234026A>G | CA379276785 | HBD | c.280T>C (p.Cys94Arg) c.92+316T>C (n.92+316T>C) | |
| 11 | g.5234026A>T | CA379276784 | HBD | c.280T>A (p.Cys94Ser) c.92+316T>A (n.92+316T>A) | dbSNP |
| 11 | g.5234026_5234027insC | CA217123810 | HBD | c.279_280insG (p.Cys94ValfsTer2) c.92+315_92+316insG (n.92+315_92+316insG) | dbSNP |
| 11 | g.5234027G>A | CA472885906 | HBD | c.279C>T (p.His93=) c.92+315C>T (n.92+315C>T) | dbSNP gnomAD v4 |
| 11 | g.5234027G>C | CA379276787 | HBD | c.279C>G (p.His93Gln) c.92+315C>G (n.92+315C>G) | |
| 11 | g.5234027G= | CA1949564961 | HBD | c.279C= (p.His93=) c.92+315C= (n.92+315C=) | |
| 11 | g.5234027G>T | CA379276786 | HBD | c.279C>A (p.His93Gln) c.92+315C>A (n.92+315C>A) | dbSNP gnomAD v4 |
| 11 | g.5234028T>A | CA379276788 | HBD | c.278A>T (p.His93Leu) c.92+314A>T (n.92+314A>T) | |
| 11 | g.5234028T>C | CA379276790 | HBD | c.278A>G (p.His93Arg) c.92+314A>G (n.92+314A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234028T>G | CA379276789 | HBD | c.278A>C (p.His93Pro) c.92+314A>C (n.92+314A>C) | |
| 11 | g.5234028T= | CA1949564965 | HBD | c.278A= (p.His93=) c.92+314A= (n.92+314A=) | |
| 11 | g.5234029G>A | CA379276791 | HBD | c.277C>T (p.His93Tyr) c.92+313C>T (n.92+313C>T) | gnomAD v4 |
| 11 | g.5234029G>C | CA379276793 | HBD | c.277C>G (p.His93Asp) c.92+313C>G (n.92+313C>G) | |
| 11 | g.5234029G>T | CA379276792 | HBD | c.277C>A (p.His93Asn) c.92+313C>A (n.92+313C>A) | |
| 11 | g.5234030C>A | CA472885910 | HBD | c.276G>T (p.Leu92=) c.92+312G>T (n.92+312G>T) | |
| 11 | g.5234030C= | CA1949564968 | HBD | c.276G= (p.Leu92=) c.92+312G= (n.92+312G=) | |
| 11 | g.5234030C>G | CA472885911 | HBD | c.276G>C (p.Leu92=) c.92+312G>C (n.92+312G>C) | |
| 11 | g.5234030C>T | CA472885912 | HBD | c.276G>A (p.Leu92=) c.92+312G>A (n.92+312G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5234031A= | CA1949564974 | HBD | c.275T= (p.Leu92=) c.92+311T= (n.92+311T=) | |
| 11 | g.5234031A>C | CA379276794 | HBD | c.275T>G (p.Leu92Arg) c.92+311T>G (n.92+311T>G) | |
| 11 | g.5234031A>G | CA379276795 | HBD | c.275T>C (p.Leu92Pro) c.92+311T>C (n.92+311T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234031A>T | CA379276796 | HBD | c.275T>A (p.Leu92Gln) c.92+311T>A (n.92+311T>A) | |
| 11 | g.5234031dup | CA597436168 | HBD | c.275dup (p.His93AlafsTer3) c.92+311dup (n.92+311dup) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234032G>A | CA5839931 | HBD | c.274C>T (p.Leu92=) c.92+310C>T (n.92+310C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234032G>C | CA379276797 | HBD | c.274C>G (p.Leu92Val) c.92+310C>G (n.92+310C>G) | |
| 11 | g.5234032G= | CA1949564978 | HBD | c.274C= (p.Leu92=) c.92+310C= (n.92+310C=) | |
| 11 | g.5234032G>T | CA379276798 | HBD | c.274C>A (p.Leu92Met) c.92+310C>A (n.92+310C>A) | |
| 11 | g.5234033C>A | CA379276799 | HBD | c.273G>T (p.Glu91Asp) c.92+309G>T (n.92+309G>T) | |
| 11 | g.5234033C= | CA1949564983 | HBD | c.273G= (p.Glu91=) c.92+309G= (n.92+309G=) | |
| 11 | g.5234033C>G | CA379276800 | HBD | c.273G>C (p.Glu91Asp) c.92+309G>C (n.92+309G>C) | |
| 11 | g.5234033C>T | CA472885916 | HBD | c.273G>A (p.Glu91=) c.92+309G>A (n.92+309G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |