OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226914_5234326del | CA124673 | ClinVar | ||
| 11 | g.5234070A>C | CA379276868 | HBD | c.236T>G (p.Leu79Arg) c.92+272T>G (n.92+272T>G) | |
| 11 | g.5234070A>G | CA379276869 | HBD | c.236T>C (p.Leu79Pro) c.92+272T>C (n.92+272T>C) | |
| 11 | g.5234070A>T | CA379276870 | HBD | c.236T>A (p.Leu79Gln) c.92+272T>A (n.92+272T>A) | |
| 11 | g.5234070dup | CA2612148893 | HBD | c.236dup (p.Asp80GlyfsTer12) c.92+272dup (n.92+272dup) | gnomAD v4 |
| 11 | g.5234071G>A | CA472885957 | HBD | c.235C>T (p.Leu79=) c.92+271C>T (n.92+271C>T) | |
| 11 | g.5234071G>C | CA379276871 | HBD | c.235C>G (p.Leu79Val) c.92+271C>G (n.92+271C>G) | |
| 11 | g.5234071G>T | CA379276872 | HBD | c.235C>A (p.Leu79Met) c.92+271C>A (n.92+271C>A) | |
| 11 | g.5234072G>A | CA472885959 | HBD | c.234C>T (p.His78=) c.92+270C>T (n.92+270C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234072G>C | CA379276873 | HBD | c.234C>G (p.His78Gln) c.92+270C>G (n.92+270C>G) | |
| 11 | g.5234072G>T | CA379276874 | HBD | c.234C>A (p.His78Gln) c.92+270C>A (n.92+270C>A) | |
| 11 | g.5234073T>A | CA379276876 | HBD | c.233A>T (p.His78Leu) c.92+269A>T (n.92+269A>T) | |
| 11 | g.5234073T>C | CA379276877 | HBD | c.233A>G (p.His78Arg) c.92+269A>G (n.92+269A>G) | |
| 11 | g.5234073T>G | CA379276875 | HBD | c.233A>C (p.His78Pro) c.92+269A>C (n.92+269A>C) | |
| 11 | g.5234074G>A | CA217123886 | HBD | c.232C>T (p.His78Tyr) c.92+268C>T (n.92+268C>T) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5234074G>C | CA379276878 | HBD | c.232C>G (p.His78Asp) c.92+268C>G (n.92+268C>G) | |
| 11 | g.5234074G= | CA1949565078 | HBD | c.232C= (p.His78=) c.92+268C= (n.92+268C=) | |
| 11 | g.5234074G>T | CA379276879 | HBD | c.232C>A (p.His78Asn) c.92+268C>A (n.92+268C>A) | |
| 11 | g.5234075A= | CA1949565082 | HBD | c.231T= (p.Ala77=) c.92+267T= (n.92+267T=) | |
| 11 | g.5234075A>C | CA217123892 | HBD | c.231T>G (p.Ala77=) c.92+267T>G (n.92+267T>G) | dbSNP |
| 11 | g.5234075A>G | CA472885966 | HBD | c.231T>C (p.Ala77=) c.92+267T>C (n.92+267T>C) | COSMIC |
| 11 | g.5234075A>T | CA472885965 | HBD | c.231T>A (p.Ala77=) c.92+267T>A (n.92+267T>A) | |
| 11 | g.5234076G>A | CA379276880 | HBD | c.230C>T (p.Ala77Val) c.92+266C>T (n.92+266C>T) | gnomAD v4 |
| 11 | g.5234076G>C | CA379276881 | HBD | c.230C>G (p.Ala77Gly) c.92+266C>G (n.92+266C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234076G= | CA1949565087 | HBD | c.230C= (p.Ala77=) c.92+266C= (n.92+266C=) | |
| 11 | g.5234076G>T | CA379276882 | HBD | c.230C>A (p.Ala77Asp) c.92+266C>A (n.92+266C>A) | |
| 11 | g.5234077C>A | CA379276883 | HBD | c.229G>T (p.Ala77Ser) c.92+265G>T (n.92+265G>T) | dbSNP |
| 11 | g.5234077C= | CA1949565090 | HBD | c.229G= (p.Ala77=) c.92+265G= (n.92+265G=) | |
| 11 | g.5234077C>G | CA379276885 | HBD | c.229G>C (p.Ala77Pro) c.92+265G>C (n.92+265G>C) | |
| 11 | g.5234077C>T | CA379276884 | HBD | c.229G>A (p.Ala77Thr) c.92+265G>A (n.92+265G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234078C>A | CA472885967 | HBD | c.228G>T (p.Leu76=) c.92+264G>T (n.92+264G>T) | |
| 11 | g.5234078C>G | CA472885969 | HBD | c.228G>C (p.Leu76=) c.92+264G>C (n.92+264G>C) | gnomAD v4 |
| 11 | g.5234078C>T | CA472885970 | HBD | c.228G>A (p.Leu76=) c.92+264G>A (n.92+264G>A) | gnomAD v4 |
| 11 | g.5234079A>C | CA379276886 | HBD | c.227T>G (p.Leu76Arg) c.92+263T>G (n.92+263T>G) | |
| 11 | g.5234079A>G | CA379276887 | HBD | c.227T>C (p.Leu76Pro) c.92+263T>C (n.92+263T>C) | |
| 11 | g.5234079A>T | CA379276888 | HBD | c.227T>A (p.Leu76Gln) c.92+263T>A (n.92+263T>A) | |
| 11 | g.5234080G>A | CA472885971 | HBD | c.226C>T (p.Leu76=) c.92+262C>T (n.92+262C>T) | gnomAD v4 |
| 11 | g.5234080G>C | CA124687 | HBD | c.226C>G (p.Leu76Val) c.92+262C>G (n.92+262C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234080G= | CA1949565100 | HBD | c.226C= (p.Leu76=) c.92+262C= (n.92+262C=) | |
| 11 | g.5234080G>T | CA379276889 | HBD | c.226C>A (p.Leu76Met) c.92+262C>A (n.92+262C>A) | |
| 11 | g.5234081G>A | CA5839939 | HBD | c.225C>T (p.Gly75=) c.92+261C>T (n.92+261C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234081G>C | CA472885975 | HBD | c.225C>G (p.Gly75=) c.92+261C>G (n.92+261C>G) | |
| 11 | g.5234081G= | CA1949565108 | HBD | c.225C= (p.Gly75=) c.92+261C= (n.92+261C=) | |
| 11 | g.5234081G>T | CA472885976 | HBD | c.225C>A (p.Gly75=) c.92+261C>A (n.92+261C>A) | |
| 11 | g.5234082C>A | CA5839940 | HBD | c.224G>T (p.Gly75Val) c.92+260G>T (n.92+260G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234082C= | CA1949565116 | HBD | c.224G= (p.Gly75=) c.92+260G= (n.92+260G=) | |
| 11 | g.5234082C>G | CA379276890 | HBD | c.224G>C (p.Gly75Ala) c.92+260G>C (n.92+260G>C) | |
| 11 | g.5234082C>T | CA217123906 | HBD | c.224G>A (p.Gly75Asp) c.92+260G>A (n.92+260G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234083C>A | CA379276891 | HBD | c.223G>T (p.Gly75Cys) c.92+259G>T (n.92+259G>T) | |
| 11 | g.5234083C= | CA1949565121 | HBD | c.223G= (p.Gly75=) c.92+259G= (n.92+259G=) | |
| 11 | g.5234083C>G | CA379276893 | HBD | c.223G>C (p.Gly75Arg) c.92+259G>C (n.92+259G>C) | |
| 11 | g.5234083C>T | CA379276892 | HBD | c.223G>A (p.Gly75Ser) c.92+259G>A (n.92+259G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234084del | CA2612148923 | HBD | c.222del (p.Asp74GlufsTer16) c.92+258del (n.92+258del) | gnomAD v4 |
| 11 | g.5234084A= | CA1949565138 | HBD | c.222T= (p.Asp74=) c.92+258T= (n.92+258T=) | |
| 11 | g.5234084A>C | CA379276894 | HBD | c.222T>G (p.Asp74Glu) c.92+258T>G (n.92+258T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234084A>G | CA472885980 | HBD | c.222T>C (p.Asp74=) c.92+258T>C (n.92+258T>C) | |
| 11 | g.5234084A>T | CA379276895 | HBD | c.222T>A (p.Asp74Glu) c.92+258T>A (n.92+258T>A) | |
| 11 | g.5234085T>A | CA379276896 | HBD | c.221A>T (p.Asp74Val) c.92+257A>T (n.92+257A>T) | |
| 11 | g.5234085T>C | CA379276897 | HBD | c.221A>G (p.Asp74Gly) c.92+257A>G (n.92+257A>G) | |
| 11 | g.5234085T>G | CA379276898 | HBD | c.221A>C (p.Asp74Ala) c.92+257A>C (n.92+257A>C) | |
| 11 | g.5234085_5234086insGGA | CA2612148928 | HBD | c.220_221insTCC (p.Asp74delinsValHis) c.92+256_92+257insTCC (n.92+256_92+257insTCC) | gnomAD v4 |
| 11 | g.5234086C>A | CA379276899 | HBD | c.220G>T (p.Asp74Tyr) c.92+256G>T (n.92+256G>T) | |
| 11 | g.5234086C>G | CA379276900 | HBD | c.220G>C (p.Asp74His) c.92+256G>C (n.92+256G>C) | |
| 11 | g.5234086C>T | CA379276901 | HBD | c.220G>A (p.Asp74Asn) c.92+256G>A (n.92+256G>A) | |
| 11 | g.5234087del | CA2612148930 | HBD | c.219del (p.Ser73ArgfsTer17) c.92+255del (n.92+255del) | gnomAD v4 |
| 11 | g.5234087A>C | CA379276902 | HBD | c.219T>G (p.Ser73Arg) c.92+255T>G (n.92+255T>G) | |
| 11 | g.5234087A>G | CA472885984 | HBD | c.219T>C (p.Ser73=) c.92+255T>C (n.92+255T>C) | |
| 11 | g.5234087A>T | CA379276903 | HBD | c.219T>A (p.Ser73Arg) c.92+255T>A (n.92+255T>A) | |
| 11 | g.5234088C>A | CA379276905 | HBD | c.218G>T (p.Ser73Ile) c.92+254G>T (n.92+254G>T) | |
| 11 | g.5234088C= | CA1949565143 | HBD | c.218G= (p.Ser73=) c.92+254G= (n.92+254G=) | |
| 11 | g.5234088C>G | CA5839941 | HBD | c.218G>C (p.Ser73Thr) c.92+254G>C (n.92+254G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234088C>T | CA379276904 | HBD | c.218G>A (p.Ser73Asn) c.92+254G>A (n.92+254G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234089T>A | CA379276906 | HBD | c.217A>T (p.Ser73Cys) c.92+253A>T (n.92+253A>T) | |
| 11 | g.5234089T>C | CA379276907 | HBD | c.217A>G (p.Ser73Gly) c.92+253A>G (n.92+253A>G) | |
| 11 | g.5234089T>G | CA379276908 | HBD | c.217A>C (p.Ser73Arg) c.92+253A>C (n.92+253A>C) | |
| 11 | g.5234090A= | CA1949565148 | HBD | c.216T= (p.Phe72=) c.92+252T= (n.92+252T=) | |
| 11 | g.5234090A>C | CA379276909 | HBD | c.216T>G (p.Phe72Leu) c.92+252T>G (n.92+252T>G) | |
| 11 | g.5234090A>G | CA472885988 | HBD | c.216T>C (p.Phe72=) c.92+252T>C (n.92+252T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234090A>T | CA379276910 | HBD | c.216T>A (p.Phe72Leu) c.92+252T>A (n.92+252T>A) | |
| 11 | g.5234090_5234091insGCCTTCTTGCC | CA2612148938 | HBD | c.215_216insGGCAAGAAGGC (p.Phe72LeufsTer22) c.92+251_92+252insGGCAAGAAGGC (n.92+251_92+252insGGCAAGAAGGC) | gnomAD v4 |
| 11 | g.5234091A>C | CA379276911 | HBD | c.215T>G (p.Phe72Cys) c.92+251T>G (n.92+251T>G) | |
| 11 | g.5234091A>G | CA379276912 | HBD | c.215T>C (p.Phe72Ser) c.92+251T>C (n.92+251T>C) | |
| 11 | g.5234091A>T | CA379276913 | HBD | c.215T>A (p.Phe72Tyr) c.92+251T>A (n.92+251T>A) | |
| 11 | g.5234091_5234092insTG | CA2612148944 | HBD | c.214_215insCA (p.Phe72SerfsTer19) c.92+250_92+251insCA (n.92+250_92+251insCA) | gnomAD v4 |
| 11 | g.5234092A>C | CA379276914 | HBD | c.214T>G (p.Phe72Val) c.92+250T>G (n.92+250T>G) | |
| 11 | g.5234092A>G | CA379276915 | HBD | c.214T>C (p.Phe72Leu) c.92+250T>C (n.92+250T>C) | |
| 11 | g.5234092A>T | CA379276916 | HBD | c.214T>A (p.Phe72Ile) c.92+250T>A (n.92+250T>A) | |
| 11 | g.5234093G>A | CA472885990 | HBD | c.213C>T (p.Ala71=) c.92+249C>T (n.92+249C>T) | dbSNP |
| 11 | g.5234093G>C | CA472885991 | HBD | c.213C>G (p.Ala71=) c.92+249C>G (n.92+249C>G) | dbSNP gnomAD v2 |
| 11 | g.5234093G= | CA1949565150 | HBD | c.213C= (p.Ala71=) c.92+249C= (n.92+249C=) | |
| 11 | g.5234093G>T | CA472885992 | HBD | c.213C>A (p.Ala71=) c.92+249C>A (n.92+249C>A) | gnomAD v4 |
| 11 | g.5234093_5234094insCCTTCTT | CA2612148953 | HBD | c.212_213insAAGAAGG (p.Phe72ArgfsTer4) c.92+248_92+249insAAGAAGG (n.92+248_92+249insAAGAAGG) | gnomAD v4 |
| 11 | g.5234094G>A | CA379276917 | HBD | c.212C>T (p.Ala71Val) c.92+248C>T (n.92+248C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234094G>C | CA5839942 | HBD | c.212C>G (p.Ala71Gly) c.92+248C>G (n.92+248C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234094G= | CA1949565153 | HBD | c.212C= (p.Ala71=) c.92+248C= (n.92+248C=) | |
| 11 | g.5234094G>T | CA5839943 | HBD | c.212C>A (p.Ala71Asp) c.92+248C>A (n.92+248C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234095C>A | CA379276918 | HBD | c.211G>T (p.Ala71Ser) c.92+247G>T (n.92+247G>T) | |
| 11 | g.5234095C>G | CA379276919 | HBD | c.211G>C (p.Ala71Pro) c.92+247G>C (n.92+247G>C) | gnomAD v4 |
| 11 | g.5234095C>T | CA379276920 | HBD | c.211G>A (p.Ala71Thr) c.92+247G>A (n.92+247G>A) | gnomAD v4 |
| 11 | g.5234095_5234096insCATC | CA2612148962 | HBD | c.211_212insATGG (p.Ala71AspfsTer4) c.92+247_92+248insATGG (n.92+247_92+248insATGG) | gnomAD v4 |
| 11 | g.5234096A>C | CA472885996 | HBD | c.210T>G (p.Gly70=) c.92+246T>G (n.92+246T>G) | |
| 11 | g.5234096A>G | CA472885997 | HBD | c.210T>C (p.Gly70=) c.92+246T>C (n.92+246T>C) | |
| 11 | g.5234096A>T | CA472885998 | HBD | c.210T>A (p.Gly70=) c.92+246T>A (n.92+246T>A) | |
| 11 | g.5234097C>A | CA379276921 | HBD | c.209G>T (p.Gly70Val) c.92+245G>T (n.92+245G>T) | |
| 11 | g.5234097C= | CA1949565158 | HBD | c.209G= (p.Gly70=) c.92+245G= (n.92+245G=) | |
| 11 | g.5234097C>G | CA379276922 | HBD | c.209G>C (p.Gly70Ala) c.92+245G>C (n.92+245G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234097C>T | CA379276923 | HBD | c.209G>A (p.Gly70Asp) c.92+245G>A (n.92+245G>A) | dbSNP gnomAD v4 |
| 11 | g.5234098C>A | CA379276924 | HBD | c.208G>T (p.Gly70Cys) c.92+244G>T (n.92+244G>T) | |
| 11 | g.5234098C= | CA1949565162 | HBD | c.208G= (p.Gly70=) c.92+244G= (n.92+244G=) | |
| 11 | g.5234098C>G | CA124649 | HBD | c.208G>C (p.Gly70Arg) c.92+244G>C (n.92+244G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5234098C>T | CA217123923 | HBD | c.208G>A (p.Gly70Ser) c.92+244G>A (n.92+244G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234099T>A | CA472885999 | HBD | c.207A>T (p.Leu69=) c.92+243A>T (n.92+243A>T) | |
| 11 | g.5234099T>C | CA472886000 | HBD | c.207A>G (p.Leu69=) c.92+243A>G (n.92+243A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234099T>G | CA472886001 | HBD | c.207A>C (p.Leu69=) c.92+243A>C (n.92+243A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234099T= | CA1949565168 | HBD | c.207A= (p.Leu69=) c.92+243A= (n.92+243A=) | |
| 11 | g.5234100A>C | CA379276925 | HBD | c.206T>G (p.Leu69Arg) c.92+242T>G (n.92+242T>G) | |
| 11 | g.5234100A>G | CA379276926 | HBD | c.206T>C (p.Leu69Pro) c.92+242T>C (n.92+242T>C) | |
| 11 | g.5234100A>T | CA379276927 | HBD | c.206T>A (p.Leu69Gln) c.92+242T>A (n.92+242T>A) | |
| 11 | g.5234100_5234101delinsAG | CA1949565173 | HBD | c.205_206delinsCT (p.Leu69=) c.92+241_92+242delinsCT (n.92+241_92+242delinsCT) | |
| 11 | g.5234101del | CA1949565176 | HBD | c.205del (p.Leu69Ter) c.92+241del (n.92+241del) | dbSNP gnomAD v4 |
| 11 | g.5234101G>A | CA5839944 | HBD | c.205C>T (p.Leu69=) c.92+241C>T (n.92+241C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234101G>C | CA379276929 | HBD | c.205C>G (p.Leu69Val) c.92+241C>G (n.92+241C>G) | |
| 11 | g.5234101G= | CA1949565177 | HBD | c.205C= (p.Leu69=) c.92+241C= (n.92+241C=) | |
| 11 | g.5234101G>T | CA379276928 | HBD | c.205C>A (p.Leu69Ile) c.92+241C>A (n.92+241C>A) | COSMIC |
| 11 | g.5234102C>A | CA472886005 | HBD | c.204G>T (p.Val68=) c.92+240G>T (n.92+240G>T) | |
| 11 | g.5234102C>G | CA472886006 | HBD | c.204G>C (p.Val68=) c.92+240G>C (n.92+240G>C) | |
| 11 | g.5234102C>T | CA472886007 | HBD | c.204G>A (p.Val68=) c.92+240G>A (n.92+240G>A) | |
| 11 | g.5234103A= | CA1949565181 | HBD | c.203T= (p.Val68=) c.92+239T= (n.92+239T=) | |
| 11 | g.5234103A>C | CA379276930 | HBD | c.203T>G (p.Val68Gly) c.92+239T>G (n.92+239T>G) | |
| 11 | g.5234103A>G | CA379276931 | HBD | c.203T>C (p.Val68Ala) c.92+239T>C (n.92+239T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234103A>T | CA379276932 | HBD | c.203T>A (p.Val68Glu) c.92+239T>A (n.92+239T>A) | |
| 11 | g.5234104C>A | CA379276933 | HBD | c.202G>T (p.Val68Leu) c.92+238G>T (n.92+238G>T) | gnomAD v4 |
| 11 | g.5234104C>G | CA379276934 | HBD | c.202G>C (p.Val68Leu) c.92+238G>C (n.92+238G>C) | |
| 11 | g.5234104C>T | CA379276935 | HBD | c.202G>A (p.Val68Met) c.92+238G>A (n.92+238G>A) | gnomAD v4 |
| 11 | g.5234104_5234107delinsCCTT | CA1949565184 | HBD | c.199_202delinsAAGG (p.Lys67=) c.92+235_92+238delinsAAGG (n.92+235_92+238delinsAAGG) | |
| 11 | g.5234105C>A | CA379276936 | HBD | c.201G>T (p.Lys67Asn) c.92+237G>T (n.92+237G>T) | |
| 11 | g.5234105C= | CA1949565190 | HBD | c.201G= (p.Lys67=) c.92+237G= (n.92+237G=) | |
| 11 | g.5234105C>G | CA379276937 | HBD | c.201G>C (p.Lys67Asn) c.92+237G>C (n.92+237G>C) | |
| 11 | g.5234105C>T | CA472886009 | HBD | c.201G>A (p.Lys67=) c.92+237G>A (n.92+237G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5234108_5234110del | CA677546043 | HBD | c.199_201del (p.Lys67del) c.92+235_92+237del (n.92+235_92+237del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234106T>A | CA379276938 | HBD | c.200A>T (p.Lys67Met) c.92+236A>T (n.92+236A>T) | |
| 11 | g.5234106T>C | CA379276939 | HBD | c.200A>G (p.Lys67Arg) c.92+236A>G (n.92+236A>G) | |
| 11 | g.5234106T>G | CA379276940 | HBD | c.200A>C (p.Lys67Thr) c.92+236A>C (n.92+236A>C) | |
| 11 | g.5234107T>A | CA379276941 | HBD | c.199A>T (p.Lys67Ter) c.92+235A>T (n.92+235A>T) | |
| 11 | g.5234107T>C | CA379276942 | HBD | c.199A>G (p.Lys67Glu) c.92+235A>G (n.92+235A>G) | |
| 11 | g.5234107T>G | CA379276943 | HBD | c.199A>C (p.Lys67Gln) c.92+235A>C (n.92+235A>C) | |
| 11 | g.5234108C>A | CA379276944 | HBD | c.198G>T (p.Lys66Asn) c.92+234G>T (n.92+234G>T) | COSMIC |
| 11 | g.5234108C= | CA1949565193 | HBD | c.198G= (p.Lys66=) c.92+234G= (n.92+234G=) | |
| 11 | g.5234108C>G | CA5839945 | HBD | c.198G>C (p.Lys66Asn) c.92+234G>C (n.92+234G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234108C>T | CA472886013 | HBD | c.198G>A (p.Lys66=) c.92+234G>A (n.92+234G>A) | |
| 11 | g.5234109T>A | CA379276945 | HBD | c.197A>T (p.Lys66Met) c.92+233A>T (n.92+233A>T) | |
| 11 | g.5234109T>C | CA379276947 | HBD | c.197A>G (p.Lys66Arg) c.92+233A>G (n.92+233A>G) | COSMIC |
| 11 | g.5234109T>G | CA379276946 | HBD | c.197A>C (p.Lys66Thr) c.92+233A>C (n.92+233A>C) | |
| 11 | g.5234110T>A | CA379276948 | HBD | c.196A>T (p.Lys66Ter) c.92+232A>T (n.92+232A>T) | |
| 11 | g.5234110T>C | CA379276949 | HBD | c.196A>G (p.Lys66Glu) c.92+232A>G (n.92+232A>G) | COSMIC |
| 11 | g.5234110T>G | CA379276950 | HBD | c.196A>C (p.Lys66Gln) c.92+232A>C (n.92+232A>C) | |
| 11 | g.5234111G>A | CA472886014 | HBD | c.195C>T (p.Gly65=) c.92+231C>T (n.92+231C>T) | gnomAD v4 |
| 11 | g.5234111G>C | CA472886015 | HBD | c.195C>G (p.Gly65=) c.92+231C>G (n.92+231C>G) | |
| 11 | g.5234111G>T | CA472886016 | HBD | c.195C>A (p.Gly65=) c.92+231C>A (n.92+231C>A) | |
| 11 | g.5234112C>A | CA379276951 | HBD | c.194G>T (p.Gly65Val) c.92+230G>T (n.92+230G>T) | COSMIC |
| 11 | g.5234112C>G | CA379276952 | HBD | c.194G>C (p.Gly65Ala) c.92+230G>C (n.92+230G>C) | |
| 11 | g.5234112C>T | CA379276953 | HBD | c.194G>A (p.Gly65Asp) c.92+230G>A (n.92+230G>A) | |
| 11 | g.5234113C>A | CA379276954 | HBD | c.193G>T (p.Gly65Cys) c.92+229G>T (n.92+229G>T) | COSMIC |
| 11 | g.5234113C= | CA1949565194 | HBD | c.193G= (p.Gly65=) c.92+229G= (n.92+229G=) | |
| 11 | g.5234113C>G | CA379276955 | HBD | c.193G>C (p.Gly65Arg) c.92+229G>C (n.92+229G>C) | |
| 11 | g.5234113C>T | CA379276956 | HBD | c.193G>A (p.Gly65Ser) c.92+229G>A (n.92+229G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234114A= | CA1949565200 | HBD | c.192T= (p.His64=) c.92+228T= (n.92+228T=) | |
| 11 | g.5234114A>C | CA379276957 | HBD | c.192T>G (p.His64Gln) c.92+228T>G (n.92+228T>G) | |
| 11 | g.5234114A>G | CA5839946 | HBD | c.192T>C (p.His64=) c.92+228T>C (n.92+228T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234114A>T | CA379276958 | HBD | c.192T>A (p.His64Gln) c.92+228T>A (n.92+228T>A) | |
| 11 | g.5234115T>A | CA379276961 | HBD | c.191A>T (p.His64Leu) c.92+227A>T (n.92+227A>T) | |
| 11 | g.5234115T>C | CA379276959 | HBD | c.191A>G (p.His64Arg) c.92+227A>G (n.92+227A>G) | COSMIC |
| 11 | g.5234115T>G | CA379276960 | HBD | c.191A>C (p.His64Pro) c.92+227A>C (n.92+227A>C) | gnomAD v4 |
| 11 | g.5234116G>A | CA379276962 | HBD | c.190C>T (p.His64Tyr) c.92+226C>T (n.92+226C>T) | gnomAD v4 |
| 11 | g.5234116G>C | CA379276963 | HBD | c.190C>G (p.His64Asp) c.92+226C>G (n.92+226C>G) | |
| 11 | g.5234116G>T | CA379276964 | HBD | c.190C>A (p.His64Asn) c.92+226C>A (n.92+226C>A) | |
| 11 | g.5234117A>C | CA472886022 | HBD | c.189T>G (p.Ala63=) c.92+225T>G (n.92+225T>G) | |
| 11 | g.5234117A>G | CA472886023 | HBD | c.189T>C (p.Ala63=) c.92+225T>C (n.92+225T>C) | |
| 11 | g.5234117A>T | CA472886024 | HBD | c.189T>A (p.Ala63=) c.92+225T>A (n.92+225T>A) | |
| 11 | g.5234118G>A | CA379276965 | HBD | c.188C>T (p.Ala63Val) c.92+224C>T (n.92+224C>T) | COSMIC |
| 11 | g.5234118G>C | CA379276966 | HBD | c.188C>G (p.Ala63Gly) c.92+224C>G (n.92+224C>G) | |
| 11 | g.5234118G>T | CA379276967 | HBD | c.188C>A (p.Ala63Asp) c.92+224C>A (n.92+224C>A) | |
| 11 | g.5234119C>A | CA379276968 | HBD | c.187G>T (p.Ala63Ser) c.92+223G>T (n.92+223G>T) | |
| 11 | g.5234119C>G | CA379276969 | HBD | c.187G>C (p.Ala63Pro) c.92+223G>C (n.92+223G>C) | |
| 11 | g.5234119C>T | CA379276970 | HBD | c.187G>A (p.Ala63Thr) c.92+223G>A (n.92+223G>A) | |
| 11 | g.5234120C>A | CA379276971 | HBD | c.186G>T (p.Lys62Asn) c.92+222G>T (n.92+222G>T) | |
| 11 | g.5234120C>G | CA379276972 | HBD | c.186G>C (p.Lys62Asn) c.92+222G>C (n.92+222G>C) | |
| 11 | g.5234120C>T | CA472886026 | HBD | c.186G>A (p.Lys62=) c.92+222G>A (n.92+222G>A) | gnomAD v4 |
| 11 | g.5234121T>A | CA379276975 | HBD | c.185A>T (p.Lys62Met) c.92+221A>T (n.92+221A>T) | |
| 11 | g.5234121T>C | CA379276974 | HBD | c.185A>G (p.Lys62Arg) c.92+221A>G (n.92+221A>G) | |
| 11 | g.5234121T>G | CA379276973 | HBD | c.185A>C (p.Lys62Thr) c.92+221A>C (n.92+221A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234121T= | CA1949565203 | HBD | c.185A= (p.Lys62=) c.92+221A= (n.92+221A=) | |
| 11 | g.5234122T>A | CA379276976 | HBD | c.184A>T (p.Lys62Ter) c.92+220A>T (n.92+220A>T) | |
| 11 | g.5234122T>C | CA379276977 | HBD | c.184A>G (p.Lys62Glu) c.92+220A>G (n.92+220A>G) | |
| 11 | g.5234122T>G | CA379276978 | HBD | c.184A>C (p.Lys62Gln) c.92+220A>C (n.92+220A>C) | |
| 11 | g.5234123C>A | CA472886030 | HBD | c.183G>T (p.Val61=) c.92+219G>T (n.92+219G>T) | |
| 11 | g.5234123C>G | CA472886031 | HBD | c.183G>C (p.Val61=) c.92+219G>C (n.92+219G>C) | |
| 11 | g.5234123C>T | CA472886032 | HBD | c.183G>A (p.Val61=) c.92+219G>A (n.92+219G>A) | gnomAD v4 |
| 11 | g.5234124A>C | CA379276979 | HBD | c.182T>G (p.Val61Gly) c.92+218T>G (n.92+218T>G) | gnomAD v4 |
| 11 | g.5234124A>G | CA379276980 | HBD | c.182T>C (p.Val61Ala) c.92+218T>C (n.92+218T>C) | |
| 11 | g.5234124A>T | CA379276981 | HBD | c.182T>A (p.Val61Glu) c.92+218T>A (n.92+218T>A) | |
| 11 | g.5234125C>A | CA379276982 | HBD | c.181G>T (p.Val61Leu) c.92+217G>T (n.92+217G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234125C= | CA1949565205 | HBD | c.181G= (p.Val61=) c.92+217G= (n.92+217G=) | |
| 11 | g.5234125C>G | CA379276983 | HBD | c.181G>C (p.Val61Leu) c.92+217G>C (n.92+217G>C) | |
| 11 | g.5234125C>T | CA379276984 | HBD | c.181G>A (p.Val61Met) c.92+217G>A (n.92+217G>A) | COSMIC |
| 11 | g.5234125_5234126dup | CA2695213004 | HBD | c.180_181dup (p.Val61GlyfsTer2) c.92+216_92+217dup (n.92+216_92+217dup) | |
| 11 | g.5234126C>A | CA379276985 | HBD | c.180G>T (p.Lys60Asn) c.92+216G>T (n.92+216G>T) | |
| 11 | g.5234126C= | CA1949565211 | HBD | c.180G= (p.Lys60=) c.92+216G= (n.92+216G=) | |
| 11 | g.5234126C>G | CA217123932 | HBD | c.180G>C (p.Lys60Asn) c.92+216G>C (n.92+216G>C) | dbSNP |
| 11 | g.5234126C>T | CA472886035 | HBD | c.180G>A (p.Lys60=) c.92+216G>A (n.92+216G>A) | gnomAD v4 |
| 11 | g.5234126_5234127delinsCT | CA1949565213 | HBD | c.179_180delinsAG (p.Lys60=) c.92+215_92+216delinsAG (n.92+215_92+216delinsAG) | |
| 11 | g.5234127T>A | CA217123944 | HBD | c.179A>T (p.Lys60Met) c.92+215A>T (n.92+215A>T) | dbSNP |
| 11 | g.5234127T>C | CA379276987 | HBD | c.179A>G (p.Lys60Arg) c.92+215A>G (n.92+215A>G) | |
| 11 | g.5234127T>G | CA379276986 | HBD | c.179A>C (p.Lys60Thr) c.92+215A>C (n.92+215A>C) | |
| 11 | g.5234127T= | CA1949565222 | HBD | c.179A= (p.Lys60=) c.92+215A= (n.92+215A=) | |
| 11 | g.5234128del | CA124674 | HBD | c.179del (p.Lys60ArgfsTer2) c.92+215del (n.92+215del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234128T>A | CA379276988 | HBD | c.178A>T (p.Lys60Ter) c.92+214A>T (n.92+214A>T) | |
| 11 | g.5234128T>C | CA379276989 | HBD | c.178A>G (p.Lys60Glu) c.92+214A>G (n.92+214A>G) | |
| 11 | g.5234128T>G | CA379276990 | HBD | c.178A>C (p.Lys60Gln) c.92+214A>C (n.92+214A>C) | |
| 11 | g.5234129A= | CA1949565225 | HBD | c.177T= (p.Pro59=) c.92+213T= (n.92+213T=) | |
| 11 | g.5234129A>C | CA472886039 | HBD | c.177T>G (p.Pro59=) c.92+213T>G (n.92+213T>G) | dbSNP |
| 11 | g.5234129A>G | CA472886041 | HBD | c.177T>C (p.Pro59=) c.92+213T>C (n.92+213T>C) | |
| 11 | g.5234129A>T | CA472886040 | HBD | c.177T>A (p.Pro59=) c.92+213T>A (n.92+213T>A) | |
| 11 | g.5234130G>A | CA379276991 | HBD | c.176C>T (p.Pro59Leu) c.92+212C>T (n.92+212C>T) | |
| 11 | g.5234130G>C | CA379276992 | HBD | c.176C>G (p.Pro59Arg) c.92+212C>G (n.92+212C>G) | gnomAD v4 |
| 11 | g.5234130G>T | CA379276993 | HBD | c.176C>A (p.Pro59His) c.92+212C>A (n.92+212C>A) | |
| 11 | g.5234132del | CA2612149028 | HBD | c.176del (p.Pro59LeufsTer3) c.92+212del (n.92+212del) | gnomAD v4 |
| 11 | g.5234131G>A | CA379276994 | HBD | c.175C>T (p.Pro59Ser) c.92+211C>T (n.92+211C>T) | |
| 11 | g.5234131G>C | CA379276995 | HBD | c.175C>G (p.Pro59Ala) c.92+211C>G (n.92+211C>G) | gnomAD v4 |
| 11 | g.5234131G>T | CA379276996 | HBD | c.175C>A (p.Pro59Thr) c.92+211C>A (n.92+211C>A) | |
| 11 | g.5234132G>A | CA5839947 | HBD | c.174C>T (p.Asn58=) c.92+210C>T (n.92+210C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234132G>C | CA379276997 | HBD | c.174C>G (p.Asn58Lys) c.92+210C>G (n.92+210C>G) | |
| 11 | g.5234132G= | CA1949565229 | HBD | c.174C= (p.Asn58=) c.92+210C= (n.92+210C=) | |
| 11 | g.5234132G>T | CA124701 | HBD | c.174C>A (p.Asn58Lys) c.92+210C>A (n.92+210C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234133T>A | CA379277000 | HBD | c.173A>T (p.Asn58Ile) c.92+209A>T (n.92+209A>T) | |
| 11 | g.5234133T>C | CA379276999 | HBD | c.173A>G (p.Asn58Ser) c.92+209A>G (n.92+209A>G) | gnomAD v4 |
| 11 | g.5234133T>G | CA379276998 | HBD | c.173A>C (p.Asn58Thr) c.92+209A>C (n.92+209A>C) | COSMIC |
| 11 | g.5234134T>A | CA379277001 | HBD | c.172A>T (p.Asn58Tyr) c.92+208A>T (n.92+208A>T) | |
| 11 | g.5234134T>C | CA379277003 | HBD | c.172A>G (p.Asn58Asp) c.92+208A>G (n.92+208A>G) | |
| 11 | g.5234134T>G | CA379277002 | HBD | c.172A>C (p.Asn58His) c.92+208A>C (n.92+208A>C) | |
| 11 | g.5234135G>A | CA472886043 | HBD | c.171C>T (p.Gly57=) c.92+207C>T (n.92+207C>T) | gnomAD v4 |
| 11 | g.5234135G>C | CA472886044 | HBD | c.171C>G (p.Gly57=) c.92+207C>G (n.92+207C>G) | |
| 11 | g.5234135G>T | CA472886045 | HBD | c.171C>A (p.Gly57=) c.92+207C>A (n.92+207C>A) | dbSNP |
| 11 | g.5234136C>A | CA379277004 | HBD | c.170G>T (p.Gly57Val) c.92+206G>T (n.92+206G>T) | |
| 11 | g.5234136C= | CA1949565237 | HBD | c.170G= (p.Gly57=) c.92+206G= (n.92+206G=) | |
| 11 | g.5234136C>G | CA217123957 | HBD | c.170G>C (p.Gly57Ala) c.92+206G>C (n.92+206G>C) | dbSNP COSMIC |
| 11 | g.5234136C>T | CA379277005 | HBD | c.170G>A (p.Gly57Asp) c.92+206G>A (n.92+206G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234137C>A | CA379277006 | HBD | c.169G>T (p.Gly57Cys) c.92+205G>T (n.92+205G>T) | |
| 11 | g.5234137C= | CA1949565243 | HBD | c.169G= (p.Gly57=) c.92+205G= (n.92+205G=) | |
| 11 | g.5234137C>G | CA379277007 | HBD | c.169G>C (p.Gly57Arg) c.92+205G>C (n.92+205G>C) | |
| 11 | g.5234137C>T | CA5839948 | HBD | c.169G>A (p.Gly57Ser) c.92+205G>A (n.92+205G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234138C>A | CA379277008 | HBD | c.168G>T (p.Met56Ile) c.92+204G>T (n.92+204G>T) | |
| 11 | g.5234138C>G | CA379277009 | HBD | c.168G>C (p.Met56Ile) c.92+204G>C (n.92+204G>C) | |
| 11 | g.5234138C>T | CA379277010 | HBD | c.168G>A (p.Met56Ile) c.92+204G>A (n.92+204G>A) | gnomAD v4 |
| 11 | g.5234139A= | CA1949565247 | HBD | c.167T= (p.Met56=) c.92+203T= (n.92+203T=) | |
| 11 | g.5234139A>C | CA379277011 | HBD | c.167T>G (p.Met56Arg) c.92+203T>G (n.92+203T>G) | COSMIC |
| 11 | g.5234139A>G | CA379277012 | HBD | c.167T>C (p.Met56Thr) c.92+203T>C (n.92+203T>C) | dbSNP |
| 11 | g.5234139A>T | CA379277013 | HBD | c.167T>A (p.Met56Lys) c.92+203T>A (n.92+203T>A) | |
| 11 | g.5234140T>A | CA379277014 | HBD | c.166A>T (p.Met56Leu) c.92+202A>T (n.92+202A>T) | |
| 11 | g.5234140T>C | CA379277015 | HBD | c.166A>G (p.Met56Val) c.92+202A>G (n.92+202A>G) | |
| 11 | g.5234140T>G | CA379277016 | HBD | c.166A>C (p.Met56Leu) c.92+202A>C (n.92+202A>C) | |
| 11 | g.5234141A>C | CA472886046 | HBD | c.165T>G (p.Val55=) c.92+201T>G (n.92+201T>G) | |
| 11 | g.5234141A>G | CA472886047 | HBD | c.165T>C (p.Val55=) c.92+201T>C (n.92+201T>C) | |
| 11 | g.5234141A>T | CA472886048 | HBD | c.165T>A (p.Val55=) c.92+201T>A (n.92+201T>A) | |
| 11 | g.5234142A>C | CA379277019 | HBD | c.164T>G (p.Val55Gly) c.92+200T>G (n.92+200T>G) | |
| 11 | g.5234142A>G | CA379277018 | HBD | c.164T>C (p.Val55Ala) c.92+200T>C (n.92+200T>C) | gnomAD v4 |
| 11 | g.5234142A>T | CA379277017 | HBD | c.164T>A (p.Val55Asp) c.92+200T>A (n.92+200T>A) | |
| 11 | g.5234143C>A | CA379277020 | HBD | c.163G>T (p.Val55Phe) c.92+199G>T (n.92+199G>T) | |
| 11 | g.5234143C= | CA1949565249 | HBD | c.163G= (p.Val55=) c.92+199G= (n.92+199G=) | |
| 11 | g.5234143C>G | CA379277021 | HBD | c.163G>C (p.Val55Leu) c.92+199G>C (n.92+199G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234143C>T | CA379277022 | HBD | c.163G>A (p.Val55Ile) c.92+199G>A (n.92+199G>A) | gnomAD v4 |
| 11 | g.5234144A>C | CA472886049 | HBD | c.162T>G (p.Ala54=) c.92+198T>G (n.92+198T>G) | |
| 11 | g.5234144A>G | CA472886050 | HBD | c.162T>C (p.Ala54=) c.92+198T>C (n.92+198T>C) | gnomAD v4 |
| 11 | g.5234144A>T | CA472886051 | HBD | c.162T>A (p.Ala54=) c.92+198T>A (n.92+198T>A) | |
| 11 | g.5234145G>A | CA379277023 | HBD | c.161C>T (p.Ala54Val) c.92+197C>T (n.92+197C>T) | |
| 11 | g.5234145G>C | CA379277024 | HBD | c.161C>G (p.Ala54Gly) c.92+197C>G (n.92+197C>G) | |
| 11 | g.5234145G>T | CA379277025 | HBD | c.161C>A (p.Ala54Asp) c.92+197C>A (n.92+197C>A) | |
| 11 | g.5234146C>A | CA379277026 | HBD | c.160G>T (p.Ala54Ser) c.92+196G>T (n.92+196G>T) | |
| 11 | g.5234146C= | CA1949565251 | HBD | c.160G= (p.Ala54=) c.92+196G= (n.92+196G=) | |
| 11 | g.5234146C>G | CA379277027 | HBD | c.160G>C (p.Ala54Pro) c.92+196G>C (n.92+196G>C) | |
| 11 | g.5234146C>T | CA379277028 | HBD | c.160G>A (p.Ala54Thr) c.92+196G>A (n.92+196G>A) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5234147A= | CA1949565256 | HBD | c.159T= (p.Asp53=) c.92+195T= (n.92+195T=) | |
| 11 | g.5234147A>C | CA5839949 | HBD | c.159T>G (p.Asp53Glu) c.92+195T>G (n.92+195T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234147A>G | CA472886052 | HBD | c.159T>C (p.Asp53=) c.92+195T>C (n.92+195T>C) | gnomAD v4 |
| 11 | g.5234147A>T | CA379277029 | HBD | c.159T>A (p.Asp53Glu) c.92+195T>A (n.92+195T>A) | |
| 11 | g.5234148T>A | CA379277031 | HBD | c.158A>T (p.Asp53Val) c.92+194A>T (n.92+194A>T) | gnomAD v4 |
| 11 | g.5234148T>C | CA379277032 | HBD | c.158A>G (p.Asp53Gly) c.92+194A>G (n.92+194A>G) | |
| 11 | g.5234148T>G | CA379277030 | HBD | c.158A>C (p.Asp53Ala) c.92+194A>C (n.92+194A>C) | |
| 11 | g.5234149C>A | CA379277033 | HBD | c.157G>T (p.Asp53Tyr) c.92+193G>T (n.92+193G>T) | |
| 11 | g.5234149C= | CA1949565264 | HBD | c.157G= (p.Asp53=) c.92+193G= (n.92+193G=) | |
| 11 | g.5234149C>G | CA217123962 | HBD | c.157G>C (p.Asp53His) c.92+193G>C (n.92+193G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234149C>T | CA379277034 | HBD | c.157G>A (p.Asp53Asn) c.92+193G>A (n.92+193G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234150A= | CA1949565272 | HBD | c.156T= (p.Pro52=) c.92+192T= (n.92+192T=) | |
| 11 | g.5234150A>C | CA472886053 | HBD | c.156T>G (p.Pro52=) c.92+192T>G (n.92+192T>G) | |
| 11 | g.5234150A>G | CA217123964 | HBD | c.156T>C (p.Pro52=) c.92+192T>C (n.92+192T>C) | dbSNP |
| 11 | g.5234150A>T | CA472886054 | HBD | c.156T>A (p.Pro52=) c.92+192T>A (n.92+192T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234151G>A | CA379277036 | HBD | c.155C>T (p.Pro52Leu) c.92+191C>T (n.92+191C>T) | gnomAD v4 |
| 11 | g.5234151G>C | CA124635 | HBD | c.155C>G (p.Pro52Arg) c.92+191C>G (n.92+191C>G) | ClinVar dbSNP |
| 11 | g.5234151G= | CA1949565277 | HBD | c.155C= (p.Pro52=) c.92+191C= (n.92+191C=) | |
| 11 | g.5234151G>T | CA379277035 | HBD | c.155C>A (p.Pro52His) c.92+191C>A (n.92+191C>A) | |
| 11 | g.5234152G>A | CA379277037 | HBD | c.154C>T (p.Pro52Ser) c.92+190C>T (n.92+190C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5234152G>C | CA379277038 | HBD | c.154C>G (p.Pro52Ala) c.92+190C>G (n.92+190C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234152G= | CA1949565284 | HBD | c.154C= (p.Pro52=) c.92+190C= (n.92+190C=) | |
| 11 | g.5234152G>T | CA379277039 | HBD | c.154C>A (p.Pro52Thr) c.92+190C>A (n.92+190C>A) | |
| 11 | g.5234153A>C | CA472886055 | HBD | c.153T>G (p.Ser51=) c.92+189T>G (n.92+189T>G) | |
| 11 | g.5234153A>G | CA472886056 | HBD | c.153T>C (p.Ser51=) c.92+189T>C (n.92+189T>C) | |
| 11 | g.5234153A>T | CA472886057 | HBD | c.153T>A (p.Ser51=) c.92+189T>A (n.92+189T>A) | |
| 11 | g.5234154G>A | CA379277040 | HBD | c.152C>T (p.Ser51Phe) c.92+188C>T (n.92+188C>T) | dbSNP |
| 11 | g.5234154G>C | CA379277041 | HBD | c.152C>G (p.Ser51Cys) c.92+188C>G (n.92+188C>G) | |
| 11 | g.5234154G= | CA1949565288 | HBD | c.152C= (p.Ser51=) c.92+188C= (n.92+188C=) | |
| 11 | g.5234154G>T | CA379277042 | HBD | c.152C>A (p.Ser51Tyr) c.92+188C>A (n.92+188C>A) | |
| 11 | g.5234155A= | CA1949565292 | HBD | c.151T= (p.Ser51=) c.92+187T= (n.92+187T=) | |
| 11 | g.5234155A>C | CA379277043 | HBD | c.151T>G (p.Ser51Ala) c.92+187T>G (n.92+187T>G) | |
| 11 | g.5234155A>G | CA379277044 | HBD | c.151T>C (p.Ser51Pro) c.92+187T>C (n.92+187T>C) | |
| 11 | g.5234155A>T | CA5839950 | HBD | c.151T>A (p.Ser51Thr) c.92+187T>A (n.92+187T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234156G>A | CA472885879 | HBD | c.150C>T (p.Ser50=) c.92+186C>T (n.92+186C>T) | gnomAD v4 COSMIC |
| 11 | g.5234156G>C | CA472885880 | HBD | c.150C>G (p.Ser50=) c.92+186C>G (n.92+186C>G) | |
| 11 | g.5234156G>T | CA472885881 | HBD | c.150C>A (p.Ser50=) c.92+186C>A (n.92+186C>A) | |
| 11 | g.5234157G>A | CA379277045 | HBD | c.149C>T (p.Ser50Phe) c.92+185C>T (n.92+185C>T) | gnomAD v4 |
| 11 | g.5234157G>C | CA379277046 | HBD | c.149C>G (p.Ser50Cys) c.92+185C>G (n.92+185C>G) | |
| 11 | g.5234157G>T | CA379277047 | HBD | c.149C>A (p.Ser50Tyr) c.92+185C>A (n.92+185C>A) | |
| 11 | g.5234158A>C | CA379277048 | HBD | c.148T>G (p.Ser50Ala) c.92+184T>G (n.92+184T>G) | |
| 11 | g.5234158A>G | CA379277049 | HBD | c.148T>C (p.Ser50Pro) c.92+184T>C (n.92+184T>C) | gnomAD v4 |
| 11 | g.5234158A>T | CA379277050 | HBD | c.148T>A (p.Ser50Thr) c.92+184T>A (n.92+184T>A) | |
| 11 | g.5234159C>A | CA217123977 | HBD | c.147G>T (p.Leu49=) c.92+183G>T (n.92+183G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234159C= | CA1949565296 | HBD | c.147G= (p.Leu49=) c.92+183G= (n.92+183G=) | |
| 11 | g.5234159C>G | CA472885882 | HBD | c.147G>C (p.Leu49=) c.92+183G>C (n.92+183G>C) | |
| 11 | g.5234159C>T | CA472885884 | HBD | c.147G>A (p.Leu49=) c.92+183G>A (n.92+183G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234160A>C | CA379277051 | HBD | c.146T>G (p.Leu49Arg) c.92+182T>G (n.92+182T>G) | |
| 11 | g.5234160A>G | CA379277052 | HBD | c.146T>C (p.Leu49Pro) c.92+182T>C (n.92+182T>C) | |
| 11 | g.5234160A>T | CA379277053 | HBD | c.146T>A (p.Leu49Gln) c.92+182T>A (n.92+182T>A) | |
| 11 | g.5234161G>A | CA5839951 | HBD | c.145C>T (p.Leu49=) c.92+181C>T (n.92+181C>T) | dbSNP ExAC gnomAD v2 |
| 11 | g.5234161G>C | CA217123985 | HBD | c.145C>G (p.Leu49Val) c.92+181C>G (n.92+181C>G) | dbSNP |
| 11 | g.5234161G= | CA1949565300 | HBD | c.145C= (p.Leu49=) c.92+181C= (n.92+181C=) | |
| 11 | g.5234161G>T | CA379277054 | HBD | c.145C>A (p.Leu49Met) c.92+181C>A (n.92+181C>A) | |
| 11 | g.5234162A= | CA1949565303 | HBD | c.144T= (p.Asp48=) c.92+180T= (n.92+180T=) | |
| 11 | g.5234162A>C | CA5839952 | HBD | c.144T>G (p.Asp48Glu) c.92+180T>G (n.92+180T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234162A>G | CA472885887 | HBD | c.144T>C (p.Asp48=) c.92+180T>C (n.92+180T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234162A>T | CA379277055 | HBD | c.144T>A (p.Asp48Glu) c.92+180T>A (n.92+180T>A) | |
| 11 | g.5234163T>A | CA124677 | HBD | c.143A>T (p.Asp48Val) c.92+179A>T (n.92+179A>T) | ClinVar dbSNP |
| 11 | g.5234163T>C | CA379277057 | HBD | c.143A>G (p.Asp48Gly) c.92+179A>G (n.92+179A>G) | |
| 11 | g.5234163T>G | CA379277056 | HBD | c.143A>C (p.Asp48Ala) c.92+179A>C (n.92+179A>C) | |
| 11 | g.5234163T= | CA1949565311 | HBD | c.143A= (p.Asp48=) c.92+179A= (n.92+179A=) | |
| 11 | g.5234164C>A | CA379277058 | HBD | c.142G>T (p.Asp48Tyr) c.92+178G>T (n.92+178G>T) | |
| 11 | g.5234164C>G | CA379277059 | HBD | c.142G>C (p.Asp48His) c.92+178G>C (n.92+178G>C) | |
| 11 | g.5234164C>T | CA379277060 | HBD | c.142G>A (p.Asp48Asn) c.92+178G>A (n.92+178G>A) | COSMIC |
| 11 | g.5234165C>A | CA5839953 | HBD | c.141G>T (p.Gly47=) c.92+177G>T (n.92+177G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234165C= | CA1949565316 | HBD | c.141G= (p.Gly47=) c.92+177G= (n.92+177G=) | |
| 11 | g.5234165C>G | CA472885888 | HBD | c.141G>C (p.Gly47=) c.92+177G>C (n.92+177G>C) | |
| 11 | g.5234165C>T | CA472885889 | HBD | c.141G>A (p.Gly47=) c.92+177G>A (n.92+177G>A) | gnomAD v4 |
| 11 | g.5234166C>A | CA217123990 | HBD | c.140G>T (p.Gly47Val) c.92+176G>T (n.92+176G>T) | dbSNP |
| 11 | g.5234166C= | CA1949565319 | HBD | c.140G= (p.Gly47=) c.92+176G= (n.92+176G=) | |
| 11 | g.5234166C>G | CA379277061 | HBD | c.140G>C (p.Gly47Ala) c.92+176G>C (n.92+176G>C) | |
| 11 | g.5234166C>T | CA379277062 | HBD | c.140G>A (p.Gly47Glu) c.92+176G>A (n.92+176G>A) | gnomAD v4 |
| 11 | g.5234167C>A | CA379277063 | HBD | c.139G>T (p.Gly47Trp) c.92+175G>T (n.92+175G>T) | |
| 11 | g.5234167C>G | CA379277064 | HBD | c.139G>C (p.Gly47Arg) c.92+175G>C (n.92+175G>C) | |
| 11 | g.5234167C>T | CA379277065 | HBD | c.139G>A (p.Gly47Arg) c.92+175G>A (n.92+175G>A) | |
| 11 | g.5234168A>C | CA379277066 | HBD | c.138T>G (p.Phe46Leu) c.92+174T>G (n.92+174T>G) | |
| 11 | g.5234168A>G | CA472885890 | HBD | c.138T>C (p.Phe46=) c.92+174T>C (n.92+174T>C) | |
| 11 | g.5234168A>T | CA379277067 | HBD | c.138T>A (p.Phe46Leu) c.92+174T>A (n.92+174T>A) | |
| 11 | g.5234169A>C | CA379277070 | HBD | c.137T>G (p.Phe46Cys) c.92+173T>G (n.92+173T>G) | |
| 11 | g.5234169A>G | CA379277068 | HBD | c.137T>C (p.Phe46Ser) c.92+173T>C (n.92+173T>C) | |
| 11 | g.5234169A>T | CA379277069 | HBD | c.137T>A (p.Phe46Tyr) c.92+173T>A (n.92+173T>A) | |
| 11 | g.5234170A>C | CA379277071 | HBD | c.136T>G (p.Phe46Val) c.92+172T>G (n.92+172T>G) | |
| 11 | g.5234170A>G | CA379277072 | HBD | c.136T>C (p.Phe46Leu) c.92+172T>C (n.92+172T>C) | |
| 11 | g.5234170A>T | CA379277073 | HBD | c.136T>A (p.Phe46Ile) c.92+172T>A (n.92+172T>A) | |
| 11 | g.5234170_5234171delinsAG | CA1949565324 | HBD | c.135_136delinsCT (p.Ser45=) c.92+171_92+172delinsCT (n.92+171_92+172delinsCT) |