Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.48728231_48728259del | CA2576309605 | HOXB13 | c.337_365del (p.Thr113ProfsTer4) | |
17 | g.48728234_48728255delinsGTACTCTTCCCCGGCCGTGGGA | CA2263242520 | HOXB13 | c.339_360delinsTCCCACGGCCGGGGAAGAGTAC (p.Thr113=) | |
17 | g.48728235_48728255del | CA984335350 | HOXB13 | c.339_359del (p.Pro114_Tyr120del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.48728252G>A | CA500661883 | HOXB13 | c.342C>T (p.Pro114=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.48728252G>C | CA500661879 | HOXB13 | c.342C>G (p.Pro114=) | |
17 | g.48728252G= | CA2263242538 | HOXB13 | c.342C= (p.Pro114=) | |
17 | g.48728252G>T | CA500661881 | HOXB13 | c.342C>A (p.Pro114=) | |
17 | g.48728253G>A | CA400107660 | HOXB13 | c.341C>T (p.Pro114Leu) | gnomAD v4 |
17 | g.48728253G>C | CA400107661 | HOXB13 | c.341C>G (p.Pro114Arg) | |
17 | g.48728253G>T | CA400107662 | HOXB13 | c.341C>A (p.Pro114His) | |
17 | g.48728254G>A | CA400107663 | HOXB13 | c.340C>T (p.Pro114Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.48728254G>C | CA400107664 | HOXB13 | c.340C>G (p.Pro114Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.48728254G= | CA2263242539 | HOXB13 | c.340C= (p.Pro114=) | |
17 | g.48728254G>T | CA8634006 | HOXB13 | c.340C>A (p.Pro114Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.48728255A>C | CA500661887 | HOXB13 | c.339T>G (p.Thr113=) | |
17 | g.48728255A>G | CA500661888 | HOXB13 | c.339T>C (p.Thr113=) | |
17 | g.48728255A>T | CA500661891 | HOXB13 | c.339T>A (p.Thr113=) | ClinVar |
17 | g.48728256G>A | CA400107665 | HOXB13 | c.338C>T (p.Thr113Ile) | |
17 | g.48728256G>C | CA400107666 | HOXB13 | c.338C>G (p.Thr113Ser) | |
17 | g.48728256G= | CA2263242540 | HOXB13 | c.338C= (p.Thr113=) | |
17 | g.48728256G>T | CA400107667 | HOXB13 | c.338C>A (p.Thr113Asn) | ClinVar dbSNP |
17 | g.48728257T>A | CA400107670 | HOXB13 | c.337A>T (p.Thr113Ser) | |
17 | g.48728257T>C | CA400107669 | HOXB13 | c.337A>G (p.Thr113Ala) | |
17 | g.48728257T>G | CA400107668 | HOXB13 | c.337A>C (p.Thr113Pro) | |
17 | g.48728257dup | CA915950427 | HOXB13 | c.337dup (p.Thr113AsnfsTer14) | ClinVar dbSNP |
17 | g.48728258C>A | CA400107671 | HOXB13 | c.336G>T (p.Glu112Asp) | |
17 | g.48728258C= | CA2263242541 | HOXB13 | c.336G= (p.Glu112=) | |
17 | g.48728258C>G | CA400107672 | HOXB13 | c.336G>C (p.Glu112Asp) | dbSNP |
17 | g.48728258C>T | CA500661894 | HOXB13 | c.336G>A (p.Glu112=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.48728259T>A | CA400107673 | HOXB13 | c.335A>T (p.Glu112Val) | |
17 | g.48728259T>C | CA400107674 | HOXB13 | c.335A>G (p.Glu112Gly) | gnomAD v4 |
17 | g.48728259T>G | CA400107675 | HOXB13 | c.335A>C (p.Glu112Ala) | |
17 | g.48728260C>A | CA400107676 | HOXB13 | c.334G>T (p.Glu112Ter) | |
17 | g.48728260C= | CA2263242542 | HOXB13 | c.334G= (p.Glu112=) | |
17 | g.48728260C>G | CA400107677 | HOXB13 | c.334G>C (p.Glu112Gln) | dbSNP |
17 | g.48728260C>T | CA400107678 | HOXB13 | c.334G>A (p.Glu112Lys) | ClinVar dbSNP |
17 | g.48728261C>A | CA500661899 | HOXB13 | c.333G>T (p.Ala111=) | ClinVar dbSNP |
17 | g.48728261C= | CA2263242543 | HOXB13 | c.333G= (p.Ala111=) | |
17 | g.48728261C>G | CA500661900 | HOXB13 | c.333G>C (p.Ala111=) | dbSNP gnomAD v4 |
17 | g.48728261C>T | CA8634007 | HOXB13 | c.333G>A (p.Ala111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.48728266_48728274del | CA2580094163 | HOXB13 | c.325_333del (p.Tyr109_Ala111del) | ClinVar gnomAD v4 |
17 | g.48728262G>A | CA291350510 | HOXB13 | c.332C>T (p.Ala111Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.48728262G>C | CA400107679 | HOXB13 | c.332C>G (p.Ala111Gly) | dbSNP |
17 | g.48728262G= | CA2263242544 | HOXB13 | c.332C= (p.Ala111=) | |
17 | g.48728262G>T | CA8634008 | HOXB13 | c.332C>A (p.Ala111Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.48728263C>A | CA400107680 | HOXB13 | c.331G>T (p.Ala111Ser) | ClinVar dbSNP |
17 | g.48728263C= | CA2263242545 | HOXB13 | c.331G= (p.Ala111=) | |
17 | g.48728263C>G | CA400107681 | HOXB13 | c.331G>C (p.Ala111Pro) | |
17 | g.48728263C>T | CA8634009 | HOXB13 | c.331G>A (p.Ala111Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.48728264G>A | CA500661903 | HOXB13 | c.330C>T (p.Pro110=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |