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.5232967_5232988del | CA2612163958 | HBD | c.422_443del (p.Ala141GlufsTer?) c.316-188_316-167del (n.316-188_316-167del) c.199_220del (p.Pro67ArgfsTer7) | gnomAD v4 |
11 | g.5232983A= | CA1949563550 | HBD | c.425T= (p.Leu142=) c.316-185T= (n.316-185T=) c.202T= (p.Trp68=) | |
11 | g.5232983A>C | CA379276406 | HBD | c.425T>G (p.Leu142Arg) c.316-185T>G (n.316-185T>G) c.202T>G (p.Trp68Gly) | |
11 | g.5232983A>G | CA124671 | HBD | c.425T>C (p.Leu142Pro) c.316-185T>C (n.316-185T>C) c.202T>C (p.Trp68Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.5232983A>T | CA379276407 | HBD | c.425T>A (p.Leu142Gln) c.316-185T>A (n.316-185T>A) c.202T>A (p.Trp68Arg) | |
11 | g.5232984G>A | CA472641222 | HBD | c.424C>T (p.Leu142=) c.316-186C>T (n.316-186C>T) c.201C>T (p.Pro67=) | gnomAD v4 |
11 | g.5232984G>C | CA379276408 | HBD | c.424C>G (p.Leu142Val) c.316-186C>G (n.316-186C>G) c.201C>G (p.Pro67=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5232984G= | CA1949563560 | HBD | c.424C= (p.Leu142=) c.316-186C= (n.316-186C=) c.201C= (p.Pro67=) | |
11 | g.5232984G>T | CA379276409 | HBD | c.424C>A (p.Leu142Met) c.316-186C>A (n.316-186C>A) c.201C>A (p.Pro67=) | |
11 | g.5232986del | CA2612163959 | HBD | c.424del (p.Leu142TrpfsTer?) c.316-186del (n.316-186del) c.201del (p.Trp68GlyfsTer13) | gnomAD v4 |
11 | g.5232985G>A | CA379276410 | HBD | c.423C>T (p.Ala141=) c.316-187C>T (n.316-187C>T) c.200C>T (p.Pro67Leu) | COSMIC |
11 | g.5232985G>C | CA217120543 | HBD | c.423C>G (p.Ala141=) c.316-187C>G (n.316-187C>G) c.200C>G (p.Pro67Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5232985G= | CA1949563564 | HBD | c.423C= (p.Ala141=) c.316-187C= (n.316-187C=) c.200C= (p.Pro67=) | |
11 | g.5232985G>T | CA379276411 | HBD | c.423C>A (p.Ala141=) c.316-187C>A (n.316-187C>A) c.200C>A (p.Pro67His) | |
11 | g.5232986G>A | CA217120544 | HBD | c.422C>T (p.Ala141Val) c.316-188C>T (n.316-188C>T) c.199C>T (p.Pro67Ser) | dbSNP |
11 | g.5232986G>C | CA379276412 | HBD | c.422C>G (p.Ala141Gly) c.316-188C>G (n.316-188C>G) c.199C>G (p.Pro67Ala) | dbSNP gnomAD v4 |
11 | g.5232986G= | CA1949563569 | HBD | c.422C= (p.Ala141=) c.316-188C= (n.316-188C=) c.199C= (p.Pro67=) | |
11 | g.5232986G>T | CA379276413 | HBD | c.422C>A (p.Ala141Asp) c.316-188C>A (n.316-188C>A) c.199C>A (p.Pro67Thr) | |
11 | g.5232987C>A | CA379276414 | HBD | c.421G>T (p.Ala141Ser) c.316-189G>T (n.316-189G>T) c.198G>T (p.Met66Ile) | |
11 | g.5232987C>G | CA379276415 | HBD | c.421G>C (p.Ala141Pro) c.316-189G>C (n.316-189G>C) c.198G>C (p.Met66Ile) | |
11 | g.5232987C>T | CA379276416 | HBD | c.421G>A (p.Ala141Thr) c.316-189G>A (n.316-189G>A) c.198G>A (p.Met66Ile) | |
11 | g.5232988A= | CA1949563573 | HBD | c.420T= (p.Asn140=) c.316-190T= (n.316-190T=) c.197T= (p.Met66=) | |
11 | g.5232988A>C | CA379276417 | HBD | c.420T>G (p.Asn140Lys) c.316-190T>G (n.316-190T>G) c.197T>G (p.Met66Arg) | |
11 | g.5232988A>G | CA379276418 | HBD | c.420T>C (p.Asn140=) c.316-190T>C (n.316-190T>C) c.197T>C (p.Met66Thr) | dbSNP |
11 | g.5232988A>T | CA379276419 | HBD | c.420T>A (p.Asn140Lys) c.316-190T>A (n.316-190T>A) c.197T>A (p.Met66Lys) | |
11 | g.5232989T>A | CA379276422 | HBD | c.419A>T (p.Asn140Ile) c.316-191A>T (n.316-191A>T) c.196A>T (p.Met66Leu) | |
11 | g.5232989T>C | CA379276420 | HBD | c.419A>G (p.Asn140Ser) c.316-191A>G (n.316-191A>G) c.196A>G (p.Met66Val) | dbSNP gnomAD v4 |
11 | g.5232989T>G | CA379276421 | HBD | c.419A>C (p.Asn140Thr) c.316-191A>C (n.316-191A>C) c.196A>C (p.Met66Leu) | dbSNP |
11 | g.5232989T= | CA1949563578 | HBD | c.419A= (p.Asn140=) c.316-191A= (n.316-191A=) c.196A= (p.Met66=) | |
11 | g.5232990T>A | CA379276423 | HBD | c.418A>T (p.Asn140Tyr) c.316-192A>T (n.316-192A>T) c.195A>T (p.Leu65=) | dbSNP |
11 | g.5232990T>C | CA379276424 | HBD | c.418A>G (p.Asn140Asp) c.316-192A>G (n.316-192A>G) c.195A>G (p.Leu65=) | dbSNP |
11 | g.5232990T>G | CA379276425 | HBD | c.418A>C (p.Asn140His) c.316-192A>C (n.316-192A>C) c.195A>C (p.Leu65=) | |
11 | g.5232990T= | CA1949563583 | HBD | c.418A= (p.Asn140=) c.316-192A= (n.316-192A=) c.195A= (p.Leu65=) | |
11 | g.5232991A= | CA1949563585 | HBD | c.417T= (p.Ala139=) c.316-193T= (n.316-193T=) c.194T= (p.Leu65=) | |
11 | g.5232991A>C | CA379276426 | HBD | c.417T>G (p.Ala139=) c.316-193T>G (n.316-193T>G) c.194T>G (p.Leu65Arg) | |
11 | g.5232991A>G | CA379276427 | HBD | c.417T>C (p.Ala139=) c.316-193T>C (n.316-193T>C) c.194T>C (p.Leu65Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.5232991A>T | CA379276428 | HBD | c.417T>A (p.Ala139=) c.316-193T>A (n.316-193T>A) c.194T>A (p.Leu65Gln) | |
11 | g.5232992_5232995dup | CA2695212996 | HBD | c.414_417dup (p.Asn140GlyfsTer2) c.316-196_316-193dup (n.316-196_316-193dup) c.191_194dup (p.Met66AlafsTer10) | |
11 | g.5232992G>A | CA379276429 | HBD | c.416C>T (p.Ala139Val) c.316-194C>T (n.316-194C>T) c.193C>T (p.Leu65=) | |
11 | g.5232992G>C | CA217120546 | HBD | c.416C>G (p.Ala139Gly) c.316-194C>G (n.316-194C>G) c.193C>G (p.Leu65Val) | dbSNP |
11 | g.5232992G= | CA1949563587 | HBD | c.416C= (p.Ala139=) c.316-194C= (n.316-194C=) c.193C= (p.Leu65=) | |
11 | g.5232992G>T | CA379276430 | HBD | c.416C>A (p.Ala139Asp) c.316-194C>A (n.316-194C>A) c.193C>A (p.Leu65Ile) | |
11 | g.5232992_5232995delinsGCCA | CA1949563586 | HBD | c.413_416delinsTGGC (p.Val138=) c.316-197_316-194delinsTGGC (n.316-197_316-194delinsTGGC) c.190_193delinsTGGC (p.Trp64=) | |
11 | g.5232993C>A | CA217120565 | HBD | c.415G>T (p.Ala139Ser) c.316-195G>T (n.316-195G>T) c.192G>T (p.Trp64Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5232993C= | CA1949563591 | HBD | c.415G= (p.Ala139=) c.316-195G= (n.316-195G=) c.192G= (p.Trp64=) | |
11 | g.5232993C>G | CA379276431 | HBD | c.415G>C (p.Ala139Pro) c.316-195G>C (n.316-195G>C) c.192G>C (p.Trp64Cys) | |
11 | g.5232993C>T | CA379276432 | HBD | c.415G>A (p.Ala139Thr) c.316-195G>A (n.316-195G>A) c.192G>A (p.Trp64Ter) | gnomAD v4 |