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.48728247_48728250dup | CA2809725998 | HOXB13 | c.347_350dup (p.Glu118ArgfsTer10) | |
17 | g.48728248C>A | CA400107652 | HOXB13 | c.346G>T (p.Ala116Ser) | |
17 | g.48728248C= | CA2263242534 | HOXB13 | c.346G= (p.Ala116=) | |
17 | g.48728248C>G | CA400107653 | HOXB13 | c.346G>C (p.Ala116Pro) | dbSNP |
17 | g.48728248C>T | CA400107654 | HOXB13 | c.346G>A (p.Ala116Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.48728249C>A | CA8634004 | HOXB13 | c.345G>T (p.Thr115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.48728249C= | CA2263242535 | HOXB13 | c.345G= (p.Thr115=) | |
17 | g.48728249C>G | CA500661873 | HOXB13 | c.345G>C (p.Thr115=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.48728249C>T | CA500661872 | HOXB13 | c.345G>A (p.Thr115=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.48728249_48728250delinsCG | CA2263242536 | HOXB13 | c.344_345delinsCG (p.Thr115=) | |
17 | g.48728249_48728250insT | CA915950425 | HOXB13 | c.344_345insA (p.Ala116GlyfsTer11) | ClinVar dbSNP |
17 | g.48728250del | CA915950426 | HOXB13 | c.344del (p.Thr115ArgfsTer?) | ClinVar dbSNP |
17 | g.48728250G>A | CA8634005 | HOXB13 | c.344C>T (p.Thr115Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.48728250G>C | CA400107656 | HOXB13 | c.344C>G (p.Thr115Arg) | dbSNP |
17 | g.48728250G= | CA2263242537 | HOXB13 | c.344C= (p.Thr115=) | |
17 | g.48728250G>T | CA400107655 | HOXB13 | c.344C>A (p.Thr115Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.48728251T>A | CA400107657 | HOXB13 | c.343A>T (p.Thr115Ser) | dbSNP |
17 | g.48728251T>C | CA400107658 | HOXB13 | c.343A>G (p.Thr115Ala) | gnomAD v4 |
17 | g.48728251T>G | CA400107659 | HOXB13 | c.343A>C (p.Thr115Pro) | dbSNP |
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 |