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.48728245del | CA772658853 | HOXB13 | c.352del (p.Glu118LysfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.48728243C>A | CA500661860 | HOXB13 | c.351G>T (p.Gly117=) | |
17 | g.48728243C= | CA2263242529 | HOXB13 | c.351G= (p.Gly117=) | |
17 | g.48728243C>G | CA500661861 | HOXB13 | c.351G>C (p.Gly117=) | ClinVar dbSNP gnomAD v4 |
17 | g.48728243C>T | CA500661862 | HOXB13 | c.351G>A (p.Gly117=) | ClinVar dbSNP gnomAD v4 |
17 | g.48728244C>A | CA400107645 | HOXB13 | c.350G>T (p.Gly117Val) | ClinVar dbSNP gnomAD v4 |
17 | g.48728244C= | CA2263242530 | HOXB13 | c.350G= (p.Gly117=) | |
17 | g.48728244C>G | CA400107646 | HOXB13 | c.350G>C (p.Gly117Ala) | |
17 | g.48728244C>T | CA8634001 | HOXB13 | c.350G>A (p.Gly117Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.48728245C>A | CA400107647 | HOXB13 | c.349G>T (p.Gly117Trp) | dbSNP |
17 | g.48728245C= | CA2263242531 | HOXB13 | c.349G= (p.Gly117=) | |
17 | g.48728245C>G | CA400107648 | HOXB13 | c.349G>C (p.Gly117Arg) | dbSNP |
17 | g.48728245C>T | CA8634002 | HOXB13 | c.349G>A (p.Gly117Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.48728246G>A | CA8634003 | HOXB13 | c.348C>T (p.Ala116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.48728246G>C | CA500661866 | HOXB13 | c.348C>G (p.Ala116=) | ClinVar dbSNP gnomAD v4 |
17 | g.48728246G= | CA2263242532 | HOXB13 | c.348C= (p.Ala116=) | |
17 | g.48728246G>T | CA500661867 | HOXB13 | c.348C>A (p.Ala116=) | COSMIC |
17 | g.48728247G>A | CA400107649 | HOXB13 | c.347C>T (p.Ala116Val) | |
17 | g.48728247G>C | CA400107650 | HOXB13 | c.347C>G (p.Ala116Gly) | ClinVar dbSNP |
17 | g.48728247G= | CA2263242533 | HOXB13 | c.347C= (p.Ala116=) | |
17 | g.48728247G>T | CA400107651 | HOXB13 | c.347C>A (p.Ala116Asp) | gnomAD v4 |
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 |