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.5226570_5233984del | CA124670 | ClinVar | ||
| 11 | g.5226638_5234052del | CA124669 | ClinVar | ||
| 11 | g.5226914_5234326del | CA124673 | ClinVar | ||
| 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) | |
| 11 | g.5233012C>A | CA379276481 | HBD | c.396G>T (p.Gln132His) c.316-214G>T (n.316-214G>T) c.173G>T (p.Arg58Ile) | |
| 11 | g.5233012C>G | CA379276482 | HBD | c.396G>C (p.Gln132His) c.316-214G>C (n.316-214G>C) c.173G>C (p.Arg58Thr) | |
| 11 | g.5233012C>T | CA379276483 | HBD | c.396G>A (p.Gln132=) c.316-214G>A (n.316-214G>A) c.173G>A (p.Arg58Lys) | |
| 11 | g.5233013T>A | CA379276484 | HBD | c.395A>T (p.Gln132Leu) c.316-215A>T (n.316-215A>T) c.172A>T (p.Arg58Ter) | |
| 11 | g.5233013T>C | CA379276485 | HBD | c.395A>G (p.Gln132Arg) c.316-215A>G (n.316-215A>G) c.172A>G (p.Arg58Gly) | |
| 11 | g.5233013T>G | CA379276486 | HBD | c.395A>C (p.Gln132Pro) c.316-215A>C (n.316-215A>C) c.172A>C (p.Arg58=) | |
| 11 | g.5233014G>A | CA379276489 | HBD | c.394C>T (p.Gln132Ter) c.316-216C>T (n.316-216C>T) c.171C>T (p.Ile57=) | |
| 11 | g.5233014G>C | CA379276487 | HBD | c.394C>G (p.Gln132Glu) c.316-216C>G (n.316-216C>G) c.171C>G (p.Ile57Met) | COSMIC |
| 11 | g.5233014G>T | CA379276488 | HBD | c.394C>A (p.Gln132Lys) c.316-216C>A (n.316-216C>A) c.171C>A (p.Ile57=) | |
| 11 | g.5233015A= | CA1949563626 | HBD | c.393T= (p.Tyr131=) c.316-217T= (n.316-217T=) c.170T= (p.Ile57=) | |
| 11 | g.5233015A>C | CA379276490 | HBD | c.393T>G (p.Tyr131Ter) c.316-217T>G (n.316-217T>G) c.170T>G (p.Ile57Ser) | |
| 11 | g.5233015A>G | CA379276491 | HBD | c.393T>C (p.Tyr131=) c.316-217T>C (n.316-217T>C) c.170T>C (p.Ile57Thr) | dbSNP |
| 11 | g.5233015A>T | CA379276492 | HBD | c.393T>A (p.Tyr131Ter) c.316-217T>A (n.316-217T>A) c.170T>A (p.Ile57Asn) | |
| 11 | g.5233016T>A | CA379276493 | HBD | c.392A>T (p.Tyr131Phe) c.316-218A>T (n.316-218A>T) c.169A>T (p.Ile57Phe) | dbSNP |
| 11 | g.5233016T>C | CA217120589 | HBD | c.392A>G (p.Tyr131Cys) c.316-218A>G (n.316-218A>G) c.169A>G (p.Ile57Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233016T>G | CA379276494 | HBD | c.392A>C (p.Tyr131Ser) c.316-218A>C (n.316-218A>C) c.169A>C (p.Ile57Leu) | |
| 11 | g.5233016T= | CA1949563632 | HBD | c.392A= (p.Tyr131=) c.316-218A= (n.316-218A=) c.169A= (p.Ile57=) | |
| 11 | g.5233016_5233020delinsTAGGC | CA1949563630 | HBD | c.388_392delinsGCCTA (p.Ala130=) c.316-222_316-218delinsGCCTA (n.316-222_316-218delinsGCCTA) c.165_169delinsGCCTA (p.Leu55=) | |
| 11 | g.5233017A>C | CA379276495 | HBD | c.391T>G (p.Tyr131Asp) c.316-219T>G (n.316-219T>G) c.168T>G (p.Pro56=) | |
| 11 | g.5233017A>G | CA379276496 | HBD | c.391T>C (p.Tyr131His) c.316-219T>C (n.316-219T>C) c.168T>C (p.Pro56=) | |
| 11 | g.5233017A>T | CA379276497 | HBD | c.391T>A (p.Tyr131Asn) c.316-219T>A (n.316-219T>A) c.168T>A (p.Pro56=) | |
| 11 | g.5233019_5233022del | CA677544619 | HBD | c.388_391del (p.Ala130IlefsTer?) c.316-222_316-219del (n.316-222_316-219del) c.165_168del (p.Pro56SerfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5233018G>A | CA379276498 | HBD | c.390C>T (p.Ala130=) c.316-220C>T (n.316-220C>T) c.167C>T (p.Pro56Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233018G>C | CA5839891 | HBD | c.390C>G (p.Ala130=) c.316-220C>G (n.316-220C>G) c.167C>G (p.Pro56Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233018G= | CA1949563643 | HBD | c.390C= (p.Ala130=) c.316-220C= (n.316-220C=) c.167C= (p.Pro56=) | |
| 11 | g.5233018G>T | CA379276499 | HBD | c.390C>A (p.Ala130=) c.316-220C>A (n.316-220C>A) c.167C>A (p.Pro56His) | |
| 11 | g.5233019G>A | CA379276501 | HBD | c.389C>T (p.Ala130Val) c.316-221C>T (n.316-221C>T) c.166C>T (p.Pro56Ser) | |
| 11 | g.5233019G>C | CA379276502 | HBD | c.389C>G (p.Ala130Gly) c.316-221C>G (n.316-221C>G) c.166C>G (p.Pro56Ala) | |
| 11 | g.5233019G>T | CA379276500 | HBD | c.389C>A (p.Ala130Asp) c.316-221C>A (n.316-221C>A) c.166C>A (p.Pro56Thr) | |
| 11 | g.5233020C>A | CA379276504 | HBD | c.388G>T (p.Ala130Ser) c.316-222G>T (n.316-222G>T) c.165G>T (p.Leu55=) | dbSNP |
| 11 | g.5233020C>G | CA379276503 | HBD | c.388G>C (p.Ala130Pro) c.316-222G>C (n.316-222G>C) c.165G>C (p.Leu55=) | |
| 11 | g.5233020C>T | CA379276505 | HBD | c.388G>A (p.Ala130Thr) c.316-222G>A (n.316-222G>A) c.165G>A (p.Leu55=) | |
| 11 | g.5233021A= | CA1949563645 | HBD | c.387T= (p.Ala129=) c.316-223T= (n.316-223T=) c.164T= (p.Leu55=) | |
| 11 | g.5233021A>C | CA379276506 | HBD | c.387T>G (p.Ala129=) c.316-223T>G (n.316-223T>G) c.164T>G (p.Leu55Arg) | |
| 11 | g.5233021A>G | CA379276507 | HBD | c.387T>C (p.Ala129=) c.316-223T>C (n.316-223T>C) c.164T>C (p.Leu55Pro) | dbSNP gnomAD v4 |
| 11 | g.5233021A>T | CA379276508 | HBD | c.387T>A (p.Ala129=) c.316-223T>A (n.316-223T>A) c.164T>A (p.Leu55Gln) | |
| 11 | g.5233022G>A | CA5839892 | HBD | c.386C>T (p.Ala129Val) c.316-224C>T (n.316-224C>T) c.163C>T (p.Leu55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233022G>C | CA379276509 | HBD | c.386C>G (p.Ala129Gly) c.316-224C>G (n.316-224C>G) c.163C>G (p.Leu55Val) | |
| 11 | g.5233022G= | CA1949563648 | HBD | c.386C= (p.Ala129=) c.316-224C= (n.316-224C=) c.163C= (p.Leu55=) | |
| 11 | g.5233022G>T | CA379276510 | HBD | c.386C>A (p.Ala129Asp) c.316-224C>A (n.316-224C>A) c.163C>A (p.Leu55Met) | |
| 11 | g.5233023C>A | CA379276511 | HBD | c.385G>T (p.Ala129Ser) c.316-225G>T (n.316-225G>T) c.162G>T (p.Arg54Ser) | |
| 11 | g.5233023C>G | CA379276512 | HBD | c.385G>C (p.Ala129Pro) c.316-225G>C (n.316-225G>C) c.162G>C (p.Arg54Ser) | |
| 11 | g.5233023C>T | CA379276513 | HBD | c.385G>A (p.Ala129Thr) c.316-225G>A (n.316-225G>A) c.162G>A (p.Arg54=) | gnomAD v4 |
| 11 | g.5233024C>A | CA379276514 | HBD | c.384G>T (p.Gln128His) c.316-226G>T (n.316-226G>T) c.161G>T (p.Arg54Met) | |
| 11 | g.5233024C>G | CA379276515 | HBD | c.384G>C (p.Gln128His) c.316-226G>C (n.316-226G>C) c.161G>C (p.Arg54Thr) | |
| 11 | g.5233024C>T | CA379276516 | HBD | c.384G>A (p.Gln128=) c.316-226G>A (n.316-226G>A) c.161G>A (p.Arg54Lys) | |
| 11 | g.5233025T>A | CA379276519 | HBD | c.383A>T (p.Gln128Leu) c.316-227A>T (n.316-227A>T) c.160A>T (p.Arg54Trp) | |
| 11 | g.5233025T>C | CA379276518 | HBD | c.383A>G (p.Gln128Arg) c.316-227A>G (n.316-227A>G) c.160A>G (p.Arg54Gly) | |
| 11 | g.5233025T>G | CA379276517 | HBD | c.383A>C (p.Gln128Pro) c.316-227A>C (n.316-227A>C) c.160A>C (p.Arg54=) | |
| 11 | g.5233026G>A | CA379276520 | HBD | c.382C>T (p.Gln128Ter) c.316-228C>T (n.316-228C>T) c.159C>T (p.Cys53=) | dbSNP |
| 11 | g.5233026G>C | CA379276521 | HBD | c.382C>G (p.Gln128Glu) c.316-228C>G (n.316-228C>G) c.159C>G (p.Cys53Trp) | |
| 11 | g.5233026G>T | CA379276522 | HBD | c.382C>A (p.Gln128Lys) c.316-228C>A (n.316-228C>A) c.159C>A (p.Cys53Ter) | |
| 11 | g.5233027C>A | CA379276523 | HBD | c.381G>T (p.Met127Ile) c.316-229G>T (n.316-229G>T) c.158G>T (p.Cys53Phe) | |
| 11 | g.5233027C>G | CA379276524 | HBD | c.381G>C (p.Met127Ile) c.316-229G>C (n.316-229G>C) c.158G>C (p.Cys53Ser) | |
| 11 | g.5233027C>T | CA379276525 | HBD | c.381G>A (p.Met127Ile) c.316-229G>A (n.316-229G>A) c.158G>A (p.Cys53Tyr) | |
| 11 | g.5233028A= | CA1949563651 | HBD | c.380T= (p.Met127=) c.316-230T= (n.316-230T=) c.157T= (p.Cys53=) | |
| 11 | g.5233028A>C | CA379276526 | HBD | c.380T>G (p.Met127Arg) c.316-230T>G (n.316-230T>G) c.157T>G (p.Cys53Gly) | |
| 11 | g.5233028A>G | CA5839893 | HBD | c.380T>C (p.Met127Thr) c.316-230T>C (n.316-230T>C) c.157T>C (p.Cys53Arg) | dbSNP ExAC gnomAD v2 |
| 11 | g.5233028A>T | CA379276527 | HBD | c.380T>A (p.Met127Lys) c.316-230T>A (n.316-230T>A) c.157T>A (p.Cys53Ser) | |
| 11 | g.5233029T>A | CA379276528 | HBD | c.379A>T (p.Met127Leu) c.316-231A>T (n.316-231A>T) c.156A>T (p.Lys52Asn) | |
| 11 | g.5233029T>C | CA379276529 | HBD | c.379A>G (p.Met127Val) c.316-231A>G (n.316-231A>G) c.156A>G (p.Lys52=) | |
| 11 | g.5233029T>G | CA379276530 | HBD | c.379A>C (p.Met127Leu) c.316-231A>C (n.316-231A>C) c.156A>C (p.Lys52Asn) | |
| 11 | g.5233030T>A | CA379276533 | HBD | c.378A>T (p.Gln126His) c.316-232A>T (n.316-232A>T) c.155A>T (p.Lys52Ile) | |
| 11 | g.5233030T>C | CA379276532 | HBD | c.378A>G (p.Gln126=) c.316-232A>G (n.316-232A>G) c.155A>G (p.Lys52Arg) | |
| 11 | g.5233030T>G | CA379276531 | HBD | c.378A>C (p.Gln126His) c.316-232A>C (n.316-232A>C) c.155A>C (p.Lys52Thr) | |
| 11 | g.5233031T>A | CA379276534 | HBD | c.377A>T (p.Gln126Leu) c.316-233A>T (n.316-233A>T) c.154A>T (p.Lys52Ter) | |
| 11 | g.5233031T>C | CA379276535 | HBD | c.377A>G (p.Gln126Arg) c.316-233A>G (n.316-233A>G) c.154A>G (p.Lys52Glu) | |
| 11 | g.5233031T>G | CA379276536 | HBD | c.377A>C (p.Gln126Pro) c.316-233A>C (n.316-233A>C) c.154A>C (p.Lys52Gln) | |
| 11 | g.5233032G>A | CA379276537 | HBD | c.376C>T (p.Gln126Ter) c.316-234C>T (n.316-234C>T) c.153C>T (p.His51=) | |
| 11 | g.5233032G>C | CA124667 | HBD | c.376C>G (p.Gln126Glu) c.316-234C>G (n.316-234C>G) c.153C>G (p.His51Gln) | ClinVar dbSNP |
| 11 | g.5233032G= | CA1949563655 | HBD | c.376C= (p.Gln126=) c.316-234C= (n.316-234C=) c.153C= (p.His51=) | |
| 11 | g.5233032G>T | CA379276538 | HBD | c.376C>A (p.Gln126Lys) c.316-234C>A (n.316-234C>A) c.153C>A (p.His51Gln) | dbSNP |
| 11 | g.5233033T>A | CA379276539 | HBD | c.375A>T (p.Pro125=) c.316-235A>T (n.316-235A>T) c.152A>T (p.His51Leu) | |
| 11 | g.5233033T>C | CA379276540 | HBD | c.375A>G (p.Pro125=) c.316-235A>G (n.316-235A>G) c.152A>G (p.His51Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233033T>G | CA379276541 | HBD | c.375A>C (p.Pro125=) c.316-235A>C (n.316-235A>C) c.152A>C (p.His51Pro) | |
| 11 | g.5233033T= | CA1949563659 | HBD | c.375A= (p.Pro125=) c.316-235A= (n.316-235A=) c.152A= (p.His51=) | |
| 11 | g.5233034G>A | CA379276542 | HBD | c.374C>T (p.Pro125Leu) c.316-236C>T (n.316-236C>T) c.151C>T (p.His51Tyr) | |
| 11 | g.5233034G>C | CA379276543 | HBD | c.374C>G (p.Pro125Arg) c.316-236C>G (n.316-236C>G) c.151C>G (p.His51Asp) | gnomAD v4 |
| 11 | g.5233034G= | CA1949563662 | HBD | c.374C= (p.Pro125=) c.316-236C= (n.316-236C=) c.151C= (p.His51=) | |
| 11 | g.5233034G>T | CA379276544 | HBD | c.374C>A (p.Pro125Gln) c.316-236C>A (n.316-236C>A) c.151C>A (p.His51Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233035G>A | CA379276547 | HBD | c.373C>T (p.Pro125Ser) c.316-237C>T (n.316-237C>T) c.150C>T (p.Pro50=) | |
| 11 | g.5233035G>C | CA379276546 | HBD | c.373C>G (p.Pro125Ala) c.316-237C>G (n.316-237C>G) c.150C>G (p.Pro50=) | |
| 11 | g.5233035G>T | CA379276545 | HBD | c.373C>A (p.Pro125Thr) c.316-237C>A (n.316-237C>A) c.150C>A (p.Pro50=) | |
| 11 | g.5233036G>A | CA379276548 | HBD | c.372C>T (p.Thr124=) c.316-238C>T (n.316-238C>T) c.149C>T (p.Pro50Leu) | |
| 11 | g.5233036G>C | CA379276549 | HBD | c.372C>G (p.Thr124=) c.316-238C>G (n.316-238C>G) c.149C>G (p.Pro50Arg) | |
| 11 | g.5233036G>T | CA379276550 | HBD | c.372C>A (p.Thr124=) c.316-238C>A (n.316-238C>A) c.149C>A (p.Pro50His) | |
| 11 | g.5233037G>A | CA379276551 | HBD | c.371C>T (p.Thr124Ile) c.316-239C>T (n.316-239C>T) c.148C>T (p.Pro50Ser) | |
| 11 | g.5233037G>C | CA5839894 | HBD | c.371C>G (p.Thr124Ser) c.316-239C>G (n.316-239C>G) c.148C>G (p.Pro50Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233037G= | CA1949563663 | HBD | c.371C= (p.Thr124=) c.316-239C= (n.316-239C=) c.148C= (p.Pro50=) | |
| 11 | g.5233037G>T | CA379276552 | HBD | c.371C>A (p.Thr124Asn) c.316-239C>A (n.316-239C>A) c.148C>A (p.Pro50Thr) | |
| 11 | g.5233038T>A | CA379276553 | HBD | c.370A>T (p.Thr124Ser) c.316-240A>T (n.316-240A>T) c.147A>T (p.Ser49=) | |
| 11 | g.5233038T>C | CA5839895 | HBD | c.370A>G (p.Thr124Ala) c.316-240A>G (n.316-240A>G) c.147A>G (p.Ser49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233038T>G | CA379276554 | HBD | c.370A>C (p.Thr124Pro) c.316-240A>C (n.316-240A>C) c.147A>C (p.Ser49=) | |
| 11 | g.5233038T= | CA1949563667 | HBD | c.370A= (p.Thr124=) c.316-240A= (n.316-240A=) c.147A= (p.Ser49=) | |
| 11 | g.5233039G>A | CA379276555 | HBD | c.369C>T (p.Phe123=) c.316-241C>T (n.316-241C>T) c.146C>T (p.Ser49Leu) | COSMIC |
| 11 | g.5233039G>C | CA379276556 | HBD | c.369C>G (p.Phe123Leu) c.316-241C>G (n.316-241C>G) c.146C>G (p.Ser49Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233039G= | CA1949563669 | HBD | c.369C= (p.Phe123=) c.316-241C= (n.316-241C=) c.146C= (p.Ser49=) | |
| 11 | g.5233039G>T | CA379276557 | HBD | c.369C>A (p.Phe123Leu) c.316-241C>A (n.316-241C>A) c.146C>A (p.Ser49Ter) | |
| 11 | g.5233040A>C | CA379276560 | HBD | c.368T>G (p.Phe123Cys) c.316-242T>G (n.316-242T>G) c.145T>G (p.Ser49Ala) | |
| 11 | g.5233040A>G | CA379276559 | HBD | c.368T>C (p.Phe123Ser) c.316-242T>C (n.316-242T>C) c.145T>C (p.Ser49Pro) | gnomAD v4 |
| 11 | g.5233040A>T | CA379276558 | HBD | c.368T>A (p.Phe123Tyr) c.316-242T>A (n.316-242T>A) c.145T>A (p.Ser49Thr) | |
| 11 | g.5233041A>C | CA379276561 | HBD | c.367T>G (p.Phe123Val) c.316-243T>G (n.316-243T>G) c.144T>G (p.Asn48Lys) | |
| 11 | g.5233041A>G | CA379276562 | HBD | c.367T>C (p.Phe123Leu) c.316-243T>C (n.316-243T>C) c.144T>C (p.Asn48=) | gnomAD v4 |
| 11 | g.5233041A>T | CA379276563 | HBD | c.367T>A (p.Phe123Ile) c.316-243T>A (n.316-243T>A) c.144T>A (p.Asn48Lys) | |
| 11 | g.5233042T>A | CA379276564 | HBD | c.366A>T (p.Glu122Asp) c.316-244A>T (n.316-244A>T) c.143A>T (p.Asn48Ile) | |
| 11 | g.5233042T>C | CA379276565 | HBD | c.366A>G (p.Glu122=) c.316-244A>G (n.316-244A>G) c.143A>G (p.Asn48Ser) | |
| 11 | g.5233042T>G | CA379276566 | HBD | c.366A>C (p.Glu122Asp) c.316-244A>C (n.316-244A>C) c.143A>C (p.Asn48Thr) | |
| 11 | g.5233043_5233044insGGTCGAATGGATCTGTCTCTGTCTCTCTCTCCACCTTCTT | CA2790275239 | HBD | c.366_367insGAAGGTGGAGAGAGAGACAGAGACAGATCCATTCGACCAA (p.Phe123GlufsTer31) c.316-244_316-243insGAAGGTGGAGAGAGAGACAGAGACAGATCCATTCGACCAA (n.316-244_316-243insGAAGGTGGAGAGAGAGACAGAGACAGATCCATTCGACCAA) c.143_144insGAAGGTGGAGAGAGAGACAGAGACAGATCCATTCGACCAA (p.Asn48LysfsTer40) | |
| 11 | g.5233043T>A | CA124651 | HBD | c.365A>T (p.Glu122Val) c.316-245A>T (n.316-245A>T) c.142A>T (p.Asn48Tyr) | ClinVar dbSNP |
| 11 | g.5233043T>C | CA379276568 | HBD | c.365A>G (p.Glu122Gly) c.316-245A>G (n.316-245A>G) c.142A>G (p.Asn48Asp) | |
| 11 | g.5233043T>G | CA379276567 | HBD | c.365A>C (p.Glu122Ala) c.316-245A>C (n.316-245A>C) c.142A>C (p.Asn48His) | |
| 11 | g.5233043T= | CA1949563671 | HBD | c.365A= (p.Glu122=) c.316-245A= (n.316-245A=) c.142A= (p.Asn48=) | |
| 11 | g.5233044C>A | CA379276569 | HBD | c.364G>T (p.Glu122Ter) c.316-246G>T (n.316-246G>T) c.141G>T (p.Arg47Ser) | |
| 11 | g.5233044C= | CA1949563676 | HBD | c.364G= (p.Glu122=) c.316-246G= (n.316-246G=) c.141G= (p.Arg47=) | |
| 11 | g.5233044C>G | CA379276570 | HBD | c.364G>C (p.Glu122Gln) c.316-246G>C (n.316-246G>C) c.141G>C (p.Arg47Ser) | dbSNP |
| 11 | g.5233044C>T | CA379276571 | HBD | c.364G>A (p.Glu122Lys) c.316-246G>A (n.316-246G>A) c.141G>A (p.Arg47=) | dbSNP COSMIC |
| 11 | g.5233045C>A | CA379276572 | HBD | c.363G>T (p.Lys121Asn) c.316-247G>T (n.316-247G>T) c.140G>T (p.Arg47Met) | |
| 11 | g.5233045C= | CA1949563679 | HBD | c.363G= (p.Lys121=) c.316-247G= (n.316-247G=) c.140G= (p.Arg47=) | |
| 11 | g.5233045C>G | CA379276573 | HBD | c.363G>C (p.Lys121Asn) c.316-247G>C (n.316-247G>C) c.140G>C (p.Arg47Thr) | gnomAD v4 |
| 11 | g.5233045C>T | CA5839896 | HBD | c.363G>A (p.Lys121=) c.316-247G>A (n.316-247G>A) c.140G>A (p.Arg47Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233046T>A | CA379276574 | HBD | c.362A>T (p.Lys121Met) c.316-248A>T (n.316-248A>T) c.139A>T (p.Arg47Trp) | |
| 11 | g.5233046T>C | CA379276576 | HBD | c.362A>G (p.Lys121Arg) c.316-248A>G (n.316-248A>G) c.139A>G (p.Arg47Gly) | |
| 11 | g.5233046T>G | CA379276575 | HBD | c.362A>C (p.Lys121Thr) c.316-248A>C (n.316-248A>C) c.139A>C (p.Arg47=) | |
| 11 | g.5233047T>A | CA379276577 | HBD | c.361A>T (p.Lys121Ter) c.316-249A>T (n.316-249A>T) c.138A>T (p.Ala46=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233047T>C | CA379276578 | HBD | c.361A>G (p.Lys121Glu) c.316-249A>G (n.316-249A>G) c.138A>G (p.Ala46=) | |
| 11 | g.5233047T>G | CA379276579 | HBD | c.361A>C (p.Lys121Gln) c.316-249A>C (n.316-249A>C) c.138A>C (p.Ala46=) | |
| 11 | g.5233047T= | CA1949563682 | HBD | c.361A= (p.Lys121=) c.316-249A= (n.316-249A=) c.138A= (p.Ala46=) | |
| 11 | g.5233048G>A | CA379276580 | HBD | c.360C>T (p.Gly120=) c.316-250C>T (n.316-250C>T) c.137C>T (p.Ala46Val) | |
| 11 | g.5233048G>C | CA379276581 | HBD | c.360C>G (p.Gly120=) c.316-250C>G (n.316-250C>G) c.137C>G (p.Ala46Gly) | |
| 11 | g.5233048G>T | CA379276582 | HBD | c.360C>A (p.Gly120=) c.316-250C>A (n.316-250C>A) c.137C>A (p.Ala46Glu) | gnomAD v4 |
| 11 | g.5233049C>A | CA379276583 | HBD | c.359G>T (p.Gly120Val) c.316-251G>T (n.316-251G>T) c.136G>T (p.Ala46Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233049C= | CA1949563684 | HBD | c.359G= (p.Gly120=) c.316-251G= (n.316-251G=) c.136G= (p.Ala46=) | |
| 11 | g.5233049C>G | CA379276584 | HBD | c.359G>C (p.Gly120Ala) c.316-251G>C (n.316-251G>C) c.136G>C (p.Ala46Pro) | |
| 11 | g.5233049C>T | CA5839897 | HBD | c.359G>A (p.Gly120Asp) c.316-251G>A (n.316-251G>A) c.136G>A (p.Ala46Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233050C>A | CA379276585 | HBD | c.358G>T (p.Gly120Cys) c.316-252G>T (n.316-252G>T) c.135G>T (p.Leu45Phe) | |
| 11 | g.5233050C>G | CA379276586 | HBD | c.358G>C (p.Gly120Arg) c.316-252G>C (n.316-252G>C) c.135G>C (p.Leu45Phe) | |
| 11 | g.5233050C>T | CA379276587 | HBD | c.358G>A (p.Gly120Ser) c.316-252G>A (n.316-252G>A) c.135G>A (p.Leu45=) | |
| 11 | g.5233051A>C | CA379276588 | HBD | c.357T>G (p.Phe119Leu) c.316-253T>G (n.316-253T>G) c.134T>G (p.Leu45Trp) | |
| 11 | g.5233051A>G | CA379276590 | HBD | c.357T>C (p.Phe119=) c.316-253T>C (n.316-253T>C) c.134T>C (p.Leu45Ser) | |
| 11 | g.5233051A>T | CA379276589 | HBD | c.357T>A (p.Phe119Leu) c.316-253T>A (n.316-253T>A) c.134T>A (p.Leu45Ter) | |
| 11 | g.5233052A>C | CA379276591 | HBD | c.356T>G (p.Phe119Cys) c.316-254T>G (n.316-254T>G) c.133T>G (p.Leu45Val) | |
| 11 | g.5233052A>G | CA379276592 | HBD | c.356T>C (p.Phe119Ser) c.316-254T>C (n.316-254T>C) c.133T>C (p.Leu45=) | |
| 11 | g.5233052A>T | CA379276593 | HBD | c.356T>A (p.Phe119Tyr) c.316-254T>A (n.316-254T>A) c.133T>A (p.Leu45Met) | |
| 11 | g.5233053A= | CA1949563688 | HBD | c.355T= (p.Phe119=) c.316-255T= (n.316-255T=) c.132T= (p.Thr44=) | |
| 11 | g.5233053A>C | CA217120647 | HBD | c.355T>G (p.Phe119Val) c.316-255T>G (n.316-255T>G) c.132T>G (p.Thr44=) | dbSNP gnomAD v4 |
| 11 | g.5233053A>G | CA379276594 | HBD | c.355T>C (p.Phe119Leu) c.316-255T>C (n.316-255T>C) c.132T>C (p.Thr44=) | |
| 11 | g.5233053A>T | CA379276595 | HBD | c.355T>A (p.Phe119Ile) c.316-255T>A (n.316-255T>A) c.132T>A (p.Thr44=) | |
| 11 | g.5233054G>A | CA379276596 | HBD | c.354C>T (p.Asn118=) c.316-256C>T (n.316-256C>T) c.131C>T (p.Thr44Ile) | |
| 11 | g.5233054G>C | CA379276597 | HBD | c.354C>G (p.Asn118Lys) c.316-256C>G (n.316-256C>G) c.131C>G (p.Thr44Ser) | dbSNP |
| 11 | g.5233054G>T | CA379276598 | HBD | c.354C>A (p.Asn118Lys) c.316-256C>A (n.316-256C>A) c.131C>A (p.Thr44Asn) | |
| 11 | g.5233055T>A | CA379276599 | HBD | c.353A>T (p.Asn118Ile) c.316-257A>T (n.316-257A>T) c.130A>T (p.Thr44Ser) | |
| 11 | g.5233055T>C | CA379276600 | HBD | c.353A>G (p.Asn118Ser) c.316-257A>G (n.316-257A>G) c.130A>G (p.Thr44Ala) | |
| 11 | g.5233055T>G | CA379276601 | HBD | c.353A>C (p.Asn118Thr) c.316-257A>C (n.316-257A>C) c.130A>C (p.Thr44Pro) | |
| 11 | g.5233055_5233056insCCCTG | CA2612163981 | HBD | c.352_353insCAGGG (p.Asn118ThrfsTer?) c.316-258_316-257insCAGGG (n.316-258_316-257insCAGGG) c.129_130insCAGGG (p.Thr44GlnfsTer24) | gnomAD v4 |
| 11 | g.5233056T>A | CA379276602 | HBD | c.352A>T (p.Asn118Tyr) c.316-258A>T (n.316-258A>T) c.129A>T (p.Ala43=) | |
| 11 | g.5233056T>C | CA217120651 | HBD | c.352A>G (p.Asn118Asp) c.316-258A>G (n.316-258A>G) c.129A>G (p.Ala43=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5233056T>G | CA217120653 | HBD | c.352A>C (p.Asn118His) c.316-258A>C (n.316-258A>C) c.129A>C (p.Ala43=) | dbSNP gnomAD v4 |
| 11 | g.5233056T= | CA1949563691 | HBD | c.352A= (p.Asn118=) c.316-258A= (n.316-258A=) c.129A= (p.Ala43=) | |
| 11 | g.5233057G>A | CA379276603 | HBD | c.351C>T (p.Arg117=) c.316-259C>T (n.316-259C>T) c.128C>T (p.Ala43Val) | gnomAD v4 |
| 11 | g.5233057G>C | CA379276604 | HBD | c.351C>G (p.Arg117=) c.316-259C>G (n.316-259C>G) c.128C>G (p.Ala43Gly) | gnomAD v4 |
| 11 | g.5233057G>T | CA379276605 | HBD | c.351C>A (p.Arg117=) c.316-259C>A (n.316-259C>A) c.128C>A (p.Ala43Glu) | |
| 11 | g.5233058C>A | CA379276606 | HBD | c.350G>T (p.Arg117Leu) c.316-260G>T (n.316-260G>T) c.127G>T (p.Ala43Ser) | |
| 11 | g.5233058C= | CA1949563699 | HBD | c.350G= (p.Arg117=) c.316-260G= (n.316-260G=) c.127G= (p.Ala43=) | |
| 11 | g.5233058C>G | CA379276607 | HBD | c.350G>C (p.Arg117Pro) c.316-260G>C (n.316-260G>C) c.127G>C (p.Ala43Pro) | |
| 11 | g.5233058C>T | CA124641 | HBD | c.350G>A (p.Arg117His) c.316-260G>A (n.316-260G>A) c.127G>A (p.Ala43Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5233059G>A | CA124675 | HBD | c.349C>T (p.Arg117Cys) c.316-261C>T (n.316-261C>T) c.126C>T (p.Pro42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233059G>C | CA5839898 | HBD | c.349C>G (p.Arg117Gly) c.316-261C>G (n.316-261C>G) c.126C>G (p.Pro42=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233059G= | CA1949563709 | HBD | c.349C= (p.Arg117=) c.316-261C= (n.316-261C=) c.126C= (p.Pro42=) | |
| 11 | g.5233059G>T | CA379276608 | HBD | c.349C>A (p.Arg117Ser) c.316-261C>A (n.316-261C>A) c.126C>A (p.Pro42=) | |
| 11 | g.5233060G>A | CA379276609 | HBD | c.348C>T (p.Ala116=) c.316-262C>T (n.316-262C>T) c.125C>T (p.Pro42Leu) | COSMIC |
| 11 | g.5233060G>C | CA379276610 | HBD | c.348C>G (p.Ala116=) c.316-262C>G (n.316-262C>G) c.125C>G (p.Pro42Arg) | |
| 11 | g.5233060G>T | CA379276611 | HBD | c.348C>A (p.Ala116=) c.316-262C>A (n.316-262C>A) c.125C>A (p.Pro42His) | |
| 11 | g.5233061G>A | CA379276613 | HBD | c.347C>T (p.Ala116Val) c.316-263C>T (n.316-263C>T) c.124C>T (p.Pro42Ser) | |
| 11 | g.5233061G>C | CA379276614 | HBD | c.347C>G (p.Ala116Gly) c.316-263C>G (n.316-263C>G) c.124C>G (p.Pro42Ala) | |
| 11 | g.5233061G>T | CA379276612 | HBD | c.347C>A (p.Ala116Asp) c.316-263C>A (n.316-263C>A) c.124C>A (p.Pro42Thr) | |
| 11 | g.5233061_5233062delinsGC | CA1949563711 | HBD | c.346_347delinsGC (p.Ala116=) c.316-264_316-263delinsGC (n.316-264_316-263delinsGC) c.123_124delinsGC (p.Trp41=) | |
| 11 | g.5233062C>A | CA379276616 | HBD | c.346G>T (p.Ala116Ser) c.316-264G>T (n.316-264G>T) c.123G>T (p.Trp41Cys) | dbSNP |
| 11 | g.5233062C= | CA1949563713 | HBD | c.346G= (p.Ala116=) c.316-264G= (n.316-264G=) c.123G= (p.Trp41=) | |
| 11 | g.5233062C>G | CA379276615 | HBD | c.346G>C (p.Ala116Pro) c.316-264G>C (n.316-264G>C) c.123G>C (p.Trp41Cys) | |
| 11 | g.5233062C>T | CA5839899 | HBD | c.346G>A (p.Ala116Thr) c.316-264G>A (n.316-264G>A) c.123G>A (p.Trp41Ter) | dbSNP ExAC gnomAD v2 |
| 11 | g.5233063del | CA597436243 | HBD | c.346del (p.Ala116ProfsTer?) c.316-264del (n.316-264del) c.123del (p.Trp41CysfsTer25) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233063C>A | CA379276617 | HBD | c.345G>T (p.Leu115=) c.316-265G>T (n.316-265G>T) c.122G>T (p.Trp41Leu) | |
| 11 | g.5233063C= | CA1949563716 | HBD | c.345G= (p.Leu115=) c.316-265G= (n.316-265G=) c.122G= (p.Trp41=) | |
| 11 | g.5233063C>G | CA379276618 | HBD | c.345G>C (p.Leu115=) c.316-265G>C (n.316-265G>C) c.122G>C (p.Trp41Ser) | |
| 11 | g.5233063C>T | CA379276619 | HBD | c.345G>A (p.Leu115=) c.316-265G>A (n.316-265G>A) c.122G>A (p.Trp41Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233064A= | CA1949563719 | HBD | c.344T= (p.Leu115=) c.316-266T= (n.316-266T=) c.121T= (p.Trp41=) | |
| 11 | g.5233064A>C | CA379276620 | HBD | c.344T>G (p.Leu115Arg) c.316-266T>G (n.316-266T>G) c.121T>G (p.Trp41Gly) | |
| 11 | g.5233064A>G | CA379276621 | HBD | c.344T>C (p.Leu115Pro) c.316-266T>C (n.316-266T>C) c.121T>C (p.Trp41Arg) | gnomAD v4 |
| 11 | g.5233064A>T | CA379276622 | HBD | c.344T>A (p.Leu115Gln) c.316-266T>A (n.316-266T>A) c.121T>A (p.Trp41Arg) | |
| 11 | g.5233065G>A | CA472641223 | HBD | c.343C>T (p.Leu115=) c.316-267C>T (n.316-267C>T) c.120C>T (p.Cys40=) | COSMIC |
| 11 | g.5233065G>C | CA379276624 | HBD | c.343C>G (p.Leu115Val) c.316-267C>G (n.316-267C>G) c.120C>G (p.Cys40Trp) | |
| 11 | g.5233065G>T | CA379276623 | HBD | c.343C>A (p.Leu115Met) c.316-267C>A (n.316-267C>A) c.120C>A (p.Cys40Ter) | |
| 11 | g.5233065_5233066dup | CA597436244 | HBD | c.342_343dup (p.Leu115ArgfsTer?) c.316-268_316-267dup (n.316-268_316-267dup) c.119_120dup (p.Trp41AlafsTer26) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5233066C>A | CA379276625 | HBD | c.342G>T (p.Val114=) c.316-268G>T (n.316-268G>T) c.119G>T (p.Cys40Phe) | |
| 11 | g.5233066C= | CA1949563723 | HBD | c.342G= (p.Val114=) c.316-268G= (n.316-268G=) c.119G= (p.Cys40=) | |
| 11 | g.5233066C>G | CA379276626 | HBD | c.342G>C (p.Val114=) c.316-268G>C (n.316-268G>C) c.119G>C (p.Cys40Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5233066C>T | CA379276627 | HBD | c.342G>A (p.Val114=) c.316-268G>A (n.316-268G>A) c.119G>A (p.Cys40Tyr) | |
| 11 | g.5233073_5233074dup | CA2695212999 | HBD | c.341_342dup (p.Leu115CysfsTer?) c.316-269_316-268dup (n.316-269_316-268dup) c.118_119dup (p.Trp41AlafsTer26) | |
| 11 | g.5233067A= | CA1949563730 | HBD | c.341T= (p.Val114=) c.316-269T= (n.316-269T=) c.118T= (p.Cys40=) | |
| 11 | g.5233067A>C | CA379276628 | HBD | c.341T>G (p.Val114Gly) c.316-269T>G (n.316-269T>G) c.118T>G (p.Cys40Gly) | |
| 11 | g.5233067A>G | CA379276629 | HBD | c.341T>C (p.Val114Ala) c.316-269T>C (n.316-269T>C) c.118T>C (p.Cys40Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5233067A>T | CA379276630 | HBD | c.341T>A (p.Val114Glu) c.316-269T>A (n.316-269T>A) c.118T>A (p.Cys40Ser) | |
| 11 | g.5233068C>A | CA379276633 | HBD | c.340G>T (p.Val114Leu) c.316-270G>T (n.316-270G>T) c.117G>T (p.Val39=) | |
| 11 | g.5233068C>G | CA379276631 | HBD | c.340G>C (p.Val114Leu) c.316-270G>C (n.316-270G>C) c.117G>C (p.Val39=) | |
| 11 | g.5233068C>T | CA379276632 | HBD | c.340G>A (p.Val114Met) c.316-270G>A (n.316-270G>A) c.117G>A (p.Val39=) | gnomAD v4 |
| 11 | g.5233069A>C | CA379276634 | HBD | c.339T>G (p.Cys113Trp) c.316-271T>G (n.316-271T>G) c.116T>G (p.Val39Gly) | |
| 11 | g.5233069A>G | CA379276635 | HBD | c.339T>C (p.Cys113=) c.316-271T>C (n.316-271T>C) c.116T>C (p.Val39Ala) | |
| 11 | g.5233069A>T | CA379276636 | HBD | c.339T>A (p.Cys113Ter) c.316-271T>A (n.316-271T>A) c.116T>A (p.Val39Glu) | |
| 11 | g.5233070C>A | CA379276637 | HBD | c.338G>T (p.Cys113Phe) c.316-272G>T (n.316-272G>T) c.115G>T (p.Val39Leu) | |
| 11 | g.5233070C= | CA1949563734 | HBD | c.338G= (p.Cys113=) c.316-272G= (n.316-272G=) c.115G= (p.Val39=) | |
| 11 | g.5233070C>G | CA379276638 | HBD | c.338G>C (p.Cys113Ser) c.316-272G>C (n.316-272G>C) c.115G>C (p.Val39Leu) | |
| 11 | g.5233070C>T | CA5839900 | HBD | c.338G>A (p.Cys113Tyr) c.316-272G>A (n.316-272G>A) c.115G>A (p.Val39Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233071A>C | CA379276639 | HBD | c.337T>G (p.Cys113Gly) c.316-273T>G (n.316-273T>G) c.114T>G (p.Cys38Trp) | |
| 11 | g.5233071A>G | CA379276640 | HBD | c.337T>C (p.Cys113Arg) c.316-273T>C (n.316-273T>C) c.114T>C (p.Cys38=) | |
| 11 | g.5233071A>T | CA379276641 | HBD | c.337T>A (p.Cys113Ser) c.316-273T>A (n.316-273T>A) c.114T>A (p.Cys38Ter) | |
| 11 | g.5233072C>A | CA379276642 | HBD | c.336G>T (p.Val112=) c.316-274G>T (n.316-274G>T) c.113G>T (p.Cys38Phe) | gnomAD v4 |
| 11 | g.5233072C= | CA1949563737 | HBD | c.336G= (p.Val112=) c.316-274G= (n.316-274G=) c.113G= (p.Cys38=) | |
| 11 | g.5233072C>G | CA5839901 | HBD | c.336G>C (p.Val112=) c.316-274G>C (n.316-274G>C) c.113G>C (p.Cys38Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233072C>T | CA379276643 | HBD | c.336G>A (p.Val112=) c.316-274G>A (n.316-274G>A) c.113G>A (p.Cys38Tyr) | gnomAD v4 |
| 11 | g.5233073A>C | CA379276644 | HBD | c.335T>G (p.Val112Gly) c.316-275T>G (n.316-275T>G) c.112T>G (p.Cys38Gly) | gnomAD v4 |
| 11 | g.5233073A>G | CA379276646 | HBD | c.335T>C (p.Val112Ala) c.316-275T>C (n.316-275T>C) c.112T>C (p.Cys38Arg) | gnomAD v4 |
| 11 | g.5233073A>T | CA379276645 | HBD | c.335T>A (p.Val112Glu) c.316-275T>A (n.316-275T>A) c.112T>A (p.Cys38Ser) | |
| 11 | g.5233074C>A | CA379276647 | HBD | c.334G>T (p.Val112Leu) c.316-276G>T (n.316-276G>T) c.111G>T (p.Trp37Cys) | COSMIC |
| 11 | g.5233074C= | CA1949563741 | HBD | c.334G= (p.Val112=) c.316-276G= (n.316-276G=) c.111G= (p.Trp37=) | |
| 11 | g.5233074C>G | CA379276648 | HBD | c.334G>C (p.Val112Leu) c.316-276G>C (n.316-276G>C) c.111G>C (p.Trp37Cys) | |
| 11 | g.5233074C>T | CA5839902 | HBD | c.334G>A (p.Val112Met) c.316-276G>A (n.316-276G>A) c.111G>A (p.Trp37Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233075C>A | CA379276649 | HBD | c.333G>T (p.Leu111=) c.316-277G>T (n.316-277G>T) c.110G>T (p.Trp37Leu) | dbSNP gnomAD v2 |
| 11 | g.5233075C= | CA1949563744 | HBD | c.333G= (p.Leu111=) c.316-277G= (n.316-277G=) c.110G= (p.Trp37=) | |
| 11 | g.5233075C>G | CA379276650 | HBD | c.333G>C (p.Leu111=) c.316-277G>C (n.316-277G>C) c.110G>C (p.Trp37Ser) | gnomAD v4 |
| 11 | g.5233075C>T | CA379276651 | HBD | c.333G>A (p.Leu111=) c.316-277G>A (n.316-277G>A) c.110G>A (p.Trp37Ter) | |
| 11 | g.5233076A= | CA1949563748 | HBD | c.332T= (p.Leu111=) c.316-278T= (n.316-278T=) c.109T= (p.Trp37=) | |
| 11 | g.5233076A>C | CA379276652 | HBD | c.332T>G (p.Leu111Arg) c.316-278T>G (n.316-278T>G) c.109T>G (p.Trp37Gly) | |
| 11 | g.5233076A>G | CA5839903 | HBD | c.332T>C (p.Leu111Pro) c.316-278T>C (n.316-278T>C) c.109T>C (p.Trp37Arg) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.5233076A>T | CA379276653 | HBD | c.332T>A (p.Leu111Gln) c.316-278T>A (n.316-278T>A) c.109T>A (p.Trp37Arg) | |
| 11 | g.5233077G>A | CA472641224 | HBD | c.331C>T (p.Leu111=) c.316-279C>T (n.316-279C>T) c.108C>T (p.Cys36=) | COSMIC |
| 11 | g.5233077G>C | CA379276654 | HBD | c.331C>G (p.Leu111Val) c.316-279C>G (n.316-279C>G) c.108C>G (p.Cys36Trp) | |
| 11 | g.5233077G>T | CA379276655 | HBD | c.331C>A (p.Leu111Met) c.316-279C>A (n.316-279C>A) c.108C>A (p.Cys36Ter) | |
| 11 | g.5233078C>A | CA379276657 | HBD | c.330G>T (p.Val110=) c.316-280G>T (n.316-280G>T) c.107G>T (p.Cys36Phe) | |
| 11 | g.5233078C= | CA1949563752 | HBD | c.330G= (p.Val110=) c.316-280G= (n.316-280G=) c.107G= (p.Cys36=) | |
| 11 | g.5233078C>G | CA379276656 | HBD | c.330G>C (p.Val110=) c.316-280G>C (n.316-280G>C) c.107G>C (p.Cys36Ser) | |
| 11 | g.5233078C>T | CA5839904 | HBD | c.330G>A (p.Val110=) c.316-280G>A (n.316-280G>A) c.107G>A (p.Cys36Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233079A>C | CA379276658 | HBD | c.329T>G (p.Val110Gly) c.316-281T>G (n.316-281T>G) c.106T>G (p.Cys36Gly) | |
| 11 | g.5233079A>G | CA379276659 | HBD | c.329T>C (p.Val110Ala) c.316-281T>C (n.316-281T>C) c.106T>C (p.Cys36Arg) | |
| 11 | g.5233079A>T | CA379276660 | HBD | c.329T>A (p.Val110Glu) c.316-281T>A (n.316-281T>A) c.106T>A (p.Cys36Ser) | |
| 11 | g.5233080C>A | CA379276661 | HBD | c.328G>T (p.Val110Leu) c.316-282G>T (n.316-282G>T) c.105G>T (p.Met35Ile) | |
| 11 | g.5233080C>G | CA379276662 | HBD | c.328G>C (p.Val110Leu) c.316-282G>C (n.316-282G>C) c.105G>C (p.Met35Ile) | |
| 11 | g.5233080C>T | CA379276663 | HBD | c.328G>A (p.Val110Met) c.316-282G>A (n.316-282G>A) c.105G>A (p.Met35Ile) | COSMIC |
| 11 | g.5233081A= | CA1949563760 | HBD | c.327T= (p.Asn109=) c.316-283T= (n.316-283T=) c.104T= (p.Met35=) | |
| 11 | g.5233081A>C | CA379276664 | HBD | c.327T>G (p.Asn109Lys) c.316-283T>G (n.316-283T>G) c.104T>G (p.Met35Arg) | |
| 11 | g.5233081A>G | CA5839905 | HBD | c.327T>C (p.Asn109=) c.316-283T>C (n.316-283T>C) c.104T>C (p.Met35Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233081A>T | CA379276665 | HBD | c.327T>A (p.Asn109Lys) c.316-283T>A (n.316-283T>A) c.104T>A (p.Met35Lys) | |
| 11 | g.5233082T>A | CA379276666 | HBD | c.326A>T (p.Asn109Ile) c.316-284A>T (n.316-284A>T) c.103A>T (p.Met35Leu) | |
| 11 | g.5233082T>C | CA379276667 | HBD | c.326A>G (p.Asn109Ser) c.316-284A>G (n.316-284A>G) c.103A>G (p.Met35Val) | gnomAD v4 |
| 11 | g.5233082T>G | CA379276668 | HBD | c.326A>C (p.Asn109Thr) c.316-284A>C (n.316-284A>C) c.103A>C (p.Met35Leu) | |
| 11 | g.5233083T>A | CA379276670 | HBD | c.325A>T (p.Asn109Tyr) c.316-285A>T (n.316-285A>T) c.102A>T (p.Ala34=) | |
| 11 | g.5233083T>C | CA379276671 | HBD | c.325A>G (p.Asn109Asp) c.316-285A>G (n.316-285A>G) c.102A>G (p.Ala34=) | |
| 11 | g.5233083T>G | CA379276669 | HBD | c.325A>C (p.Asn109His) c.316-285A>C (n.316-285A>C) c.102A>C (p.Ala34=) | dbSNP |
| 11 | g.5233083T= | CA1949563766 | HBD | c.325A= (p.Asn109=) c.316-285A= (n.316-285A=) c.102A= (p.Ala34=) | |
| 11 | g.5233084G>A | CA379276674 | HBD | c.324C>T (p.Gly108=) c.316-286C>T (n.316-286C>T) c.101C>T (p.Ala34Val) | |
| 11 | g.5233084G>C | CA379276672 | HBD | c.324C>G (p.Gly108=) c.316-286C>G (n.316-286C>G) c.101C>G (p.Ala34Gly) | |
| 11 | g.5233084G>T | CA379276673 | HBD | c.324C>A (p.Gly108=) c.316-286C>A (n.316-286C>A) c.101C>A (p.Ala34Glu) | |
| 11 | g.5233085C>A | CA379276675 | HBD | c.323G>T (p.Gly108Val) c.316-287G>T (n.316-287G>T) c.100G>T (p.Ala34Ser) | |
| 11 | g.5233085C>G | CA379276676 | HBD | c.323G>C (p.Gly108Ala) c.316-287G>C (n.316-287G>C) c.100G>C (p.Ala34Pro) | |
| 11 | g.5233085C>T | CA379276677 | HBD | c.323G>A (p.Gly108Asp) c.316-287G>A (n.316-287G>A) c.100G>A (p.Ala34Thr) | COSMIC |
| 11 | g.5233086C>A | CA379276678 | HBD | c.322G>T (p.Gly108Cys) c.316-288G>T (n.316-288G>T) c.99G>T (p.Trp33Cys) | gnomAD v4 |
| 11 | g.5233086C= | CA1949563770 | HBD | c.322G= (p.Gly108=) c.316-288G= (n.316-288G=) c.99G= (p.Trp33=) | |
| 11 | g.5233086C>G | CA379276679 | HBD | c.322G>C (p.Gly108Arg) c.316-288G>C (n.316-288G>C) c.99G>C (p.Trp33Cys) | |
| 11 | g.5233086C>T | CA5839906 | HBD | c.322G>A (p.Gly108Ser) c.316-288G>A (n.316-288G>A) c.99G>A (p.Trp33Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233087C>A | CA379276680 | HBD | c.321G>T (p.Leu107Phe) c.316-289G>T (n.316-289G>T) c.98G>T (p.Trp33Leu) | |
| 11 | g.5233087C= | CA1949563771 | HBD | c.321G= (p.Leu107=) c.316-289G= (n.316-289G=) c.98G= (p.Trp33=) | |
| 11 | g.5233087C>G | CA379276681 | HBD | c.321G>C (p.Leu107Phe) c.316-289G>C (n.316-289G>C) c.98G>C (p.Trp33Ser) | |
| 11 | g.5233087C>T | CA379276682 | HBD | c.321G>A (p.Leu107=) c.316-289G>A (n.316-289G>A) c.98G>A (p.Trp33Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233088A>C | CA379276683 | HBD | c.320T>G (p.Leu107Trp) c.316-290T>G (n.316-290T>G) c.97T>G (p.Trp33Gly) | |
| 11 | g.5233088A>G | CA379276684 | HBD | c.320T>C (p.Leu107Ser) c.316-290T>C (n.316-290T>C) c.97T>C (p.Trp33Arg) | |
| 11 | g.5233088A>T | CA379276685 | HBD | c.320T>A (p.Leu107Ter) c.316-290T>A (n.316-290T>A) c.97T>A (p.Trp33Arg) | |
| 11 | g.5233089A= | CA1949563774 | HBD | c.319T= (p.Leu107=) c.316-291T= (n.316-291T=) c.96T= (p.Ser32=) | |
| 11 | g.5233089A>C | CA379276686 | HBD | c.319T>G (p.Leu107Val) c.316-291T>G (n.316-291T>G) c.96T>G (p.Ser32=) | gnomAD v4 |
| 11 | g.5233089A>G | CA472641225 | HBD | c.319T>C (p.Leu107=) c.316-291T>C (n.316-291T>C) c.96T>C (p.Ser32=) | dbSNP gnomAD v4 |
| 11 | g.5233089A>T | CA379276687 | HBD | c.319T>A (p.Leu107Met) c.316-291T>A (n.316-291T>A) c.96T>A (p.Ser32=) | |
| 11 | g.5233090G>A | CA379276688 | HBD | c.318C>T (p.Leu106=) c.316-292C>T (n.316-292C>T) c.95C>T (p.Ser32Phe) | gnomAD v4 |
| 11 | g.5233090G>C | CA5839907 | HBD | c.318C>G (p.Leu106=) c.316-292C>G (n.316-292C>G) c.95C>G (p.Ser32Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5233090G= | CA1949563778 | HBD | c.318C= (p.Leu106=) c.316-292C= (n.316-292C=) c.95C= (p.Ser32=) | |
| 11 | g.5233090G>T | CA379276689 | HBD | c.318C>A (p.Leu106=) c.316-292C>A (n.316-292C>A) c.95C>A (p.Ser32Tyr) | |
| 11 | g.5233091A>C | CA379276690 | HBD | c.317T>G (p.Leu106Arg) c.316-293T>G (n.316-293T>G) c.94T>G (p.Ser32Ala) | |
| 11 | g.5233091A>G | CA379276691 | HBD | c.317T>C (p.Leu106Pro) c.316-293T>C (n.316-293T>C) c.94T>C (p.Ser32Pro) | |
| 11 | g.5233091A>T | CA379276692 | HBD | c.317T>A (p.Leu106His) c.316-293T>A (n.316-293T>A) c.94T>A (p.Ser32Thr) | |
| 11 | g.5233092G>A | CA379276693 | HBD | c.316C>T (p.Leu106Phe) c.316-294C>T (n.316-294C>T) c.93C>T (p.Ser31=) | |
| 11 | g.5233092G>C | CA379276694 | HBD | c.316C>G (p.Leu106Val) c.316-294C>G (n.316-294C>G) c.93C>G (p.Ser31Arg) | |
| 11 | g.5233092G>T | CA379276695 | HBD | c.316C>A (p.Leu106Ile) c.316-294C>A (n.316-294C>A) c.93C>A (p.Ser31Arg) |