| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48134284_48134287del | CA2628304186 | SLC24A5 | c.328_331del (p.Gly110GlnfsTer13) c.148_151del (p.Gly50GlnfsTer13) n.88_91del c.-12_-9del (n.-12_-9del) | gnomAD v4 |
| 15 | g.48134286_48134287delinsTG | CA2580089518 | SLC24A5 | c.330_331delinsTG (p.Thr111Ala) c.150_151delinsTG (p.Thr51Ala) n.90_91delinsTG c.-10_-9delinsTG (n.-10_-9delinsTG) | ClinVar |
| 15 | g.48134287A= | CA115022 | SLC24A5 | c.331A= (p.Thr111=) c.151A= (p.Thr51=) n.91A= c.-9A= (n.-9A=) | |
| 15 | g.48134287A>C | CA392449687 | SLC24A5 | c.331A>C (p.Thr111Pro) c.151A>C (p.Thr51Pro) n.91A>C c.-9A>C (n.-9A>C) | |
| 15 | g.48134287A>G | CA7545842 | SLC24A5 | c.331A>G (p.Thr111Ala) c.151A>G (p.Thr51Ala) n.91A>G c.-9A>G (n.-9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134287A>T | CA269988760 | SLC24A5 | c.331A>T (p.Thr111Ser) c.151A>T (p.Thr51Ser) n.91A>T c.-9A>T (n.-9A>T) | dbSNP gnomAD v4 |
| 15 | g.48134288C>A | CA392449692 | SLC24A5 | c.332C>A (p.Thr111Lys) c.152C>A (p.Thr51Lys) n.92C>A c.-8C>A (n.-8C>A) | |
| 15 | g.48134288C>G | CA392449694 | SLC24A5 | c.332C>G (p.Thr111Arg) c.152C>G (p.Thr51Arg) n.92C>G c.-8C>G (n.-8C>G) | |
| 15 | g.48134288C>T | CA392449696 | SLC24A5 | c.332C>T (p.Thr111Ile) c.152C>T (p.Thr51Ile) n.92C>T c.-8C>T (n.-8C>T) | |
| 15 | g.48134289A>C | CA490090355 | SLC24A5 | c.333A>C (p.Thr111=) c.153A>C (p.Thr51=) n.93A>C c.-7A>C (n.-7A>C) | |
| 15 | g.48134289A>G | CA490090356 | SLC24A5 | c.333A>G (p.Thr111=) c.153A>G (p.Thr51=) n.93A>G c.-7A>G (n.-7A>G) | |
| 15 | g.48134289A>T | CA490090357 | SLC24A5 | c.333A>T (p.Thr111=) c.153A>T (p.Thr51=) n.93A>T c.-7A>T (n.-7A>T) | COSMIC |
| 15 | g.48134290A>C | CA392449699 | SLC24A5 | c.334A>C (p.Thr112Pro) c.154A>C (p.Thr52Pro) n.94A>C c.-6A>C (n.-6A>C) | |
| 15 | g.48134290A>G | CA392449701 | SLC24A5 | c.334A>G (p.Thr112Ala) c.154A>G (p.Thr52Ala) n.94A>G c.-6A>G (n.-6A>G) | |
| 15 | g.48134290A>T | CA392449703 | SLC24A5 | c.334A>T (p.Thr112Ser) c.154A>T (p.Thr52Ser) n.94A>T c.-6A>T (n.-6A>T) | |
| 15 | g.48134291C>A | CA392449707 | SLC24A5 | c.335C>A (p.Thr112Asn) c.155C>A (p.Thr52Asn) n.95C>A c.-5C>A (n.-5C>A) | |
| 15 | g.48134291C= | CA2175373703 | SLC24A5 | c.335C= (p.Thr112=) c.155C= (p.Thr52=) n.95C= c.-5C= (n.-5C=) | |
| 15 | g.48134291C>G | CA392449709 | SLC24A5 | c.335C>G (p.Thr112Ser) c.155C>G (p.Thr52Ser) n.95C>G c.-5C>G (n.-5C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48134291C>T | CA392449706 | SLC24A5 | c.335C>T (p.Thr112Ile) c.155C>T (p.Thr52Ile) n.95C>T c.-5C>T (n.-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48134292T>A | CA490090360 | SLC24A5 | c.336T>A (p.Thr112=) c.156T>A (p.Thr52=) n.96T>A c.-4T>A (n.-4T>A) | |
| 15 | g.48134292T>C | CA490090358 | SLC24A5 | c.336T>C (p.Thr112=) c.156T>C (p.Thr52=) n.96T>C c.-4T>C (n.-4T>C) | |
| 15 | g.48134292T>G | CA490090359 | SLC24A5 | c.336T>G (p.Thr112=) c.156T>G (p.Thr52=) n.96T>G c.-4T>G (n.-4T>G) | |
| 15 | g.48134293_48134294dup | CA2628304218 | SLC24A5 | c.337_338dup (p.Met114SerfsTer11) c.157_158dup (p.Met54SerfsTer11) n.97_98dup c.-3_-2dup (n.-3_-2dup) | gnomAD v4 |
| 15 | g.48134293T>A | CA392449712 | SLC24A5 | c.337T>A (p.Phe113Ile) c.157T>A (p.Phe53Ile) n.97T>A c.-3T>A (n.-3T>A) | COSMIC |
| 15 | g.48134293T>C | CA392449714 | SLC24A5 | c.337T>C (p.Phe113Leu) c.157T>C (p.Phe53Leu) n.97T>C c.-3T>C (n.-3T>C) | |
| 15 | g.48134293T>G | CA392449716 | SLC24A5 | c.337T>G (p.Phe113Val) c.157T>G (p.Phe53Val) n.97T>G c.-3T>G (n.-3T>G) | |
| 15 | g.48134294T>A | CA392449719 | SLC24A5 | c.338T>A (p.Phe113Tyr) c.158T>A (p.Phe53Tyr) n.98T>A c.-2T>A (n.-2T>A) | |
| 15 | g.48134294T>C | CA392449721 | SLC24A5 | c.338T>C (p.Phe113Ser) c.158T>C (p.Phe53Ser) n.98T>C c.-2T>C (n.-2T>C) | gnomAD v4 |
| 15 | g.48134294T>G | CA392449723 | SLC24A5 | c.338T>G (p.Phe113Cys) c.158T>G (p.Phe53Cys) n.98T>G c.-2T>G (n.-2T>G) | gnomAD v4 |
| 15 | g.48134295C>A | CA392449727 | SLC24A5 | c.339C>A (p.Phe113Leu) c.159C>A (p.Phe53Leu) n.99C>A c.-1C>A (n.-1C>A) | |
| 15 | g.48134295C>G | CA392449725 | SLC24A5 | c.339C>G (p.Phe113Leu) c.159C>G (p.Phe53Leu) n.99C>G c.-1C>G (n.-1C>G) | |
| 15 | g.48134295C>T | CA490090361 | SLC24A5 | c.339C>T (p.Phe113=) c.159C>T (p.Phe53=) n.99C>T c.-1C>T (n.-1C>T) | COSMIC |
| 15 | g.48134296A>C | CA392449730 | SLC24A5 | c.340A>C (p.Met114Leu) c.160A>C (p.Met54Leu) n.100A>C c.1A>C (p.Met1Leu) | |
| 15 | g.48134296A>G | CA392449731 | SLC24A5 | c.340A>G (p.Met114Val) c.160A>G (p.Met54Val) n.100A>G c.1A>G (p.Met1Val) | gnomAD v4 |
| 15 | g.48134296A>T | CA392449734 | SLC24A5 | c.340A>T (p.Met114Leu) c.160A>T (p.Met54Leu) n.100A>T c.1A>T (p.Met1Leu) | |
| 15 | g.48134297T>A | CA392449736 | SLC24A5 | c.341T>A (p.Met114Lys) c.161T>A (p.Met54Lys) n.101T>A c.2T>A (p.Met1Lys) | |
| 15 | g.48134297T>C | CA392449738 | SLC24A5 | c.341T>C (p.Met114Thr) c.161T>C (p.Met54Thr) n.101T>C c.2T>C (p.Met1Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134297T>G | CA392449740 | SLC24A5 | c.341T>G (p.Met114Arg) c.161T>G (p.Met54Arg) n.101T>G c.2T>G (p.Met1Arg) | |
| 15 | g.48134297T= | CA2175373705 | SLC24A5 | c.341T= (p.Met114=) c.161T= (p.Met54=) n.101T= c.2T= (p.Met1=) | |
| 15 | g.48134298G>A | CA392449744 | SLC24A5 | c.342G>A (p.Met114Ile) c.162G>A (p.Met54Ile) n.102G>A c.3G>A (p.Met1Ile) | |
| 15 | g.48134298G>C | CA392449748 | SLC24A5 | c.342G>C (p.Met114Ile) c.162G>C (p.Met54Ile) n.102G>C c.3G>C (p.Met1Ile) | |
| 15 | g.48134298G>T | CA392449745 | SLC24A5 | c.342G>T (p.Met114Ile) c.162G>T (p.Met54Ile) n.102G>T c.3G>T (p.Met1Ile) | gnomAD v4 |
| 15 | g.48134299G>A | CA392449749 | SLC24A5 | c.343G>A (p.Ala115Thr) c.163G>A (p.Ala55Thr) n.103G>A c.4G>A (p.Ala2Thr) | dbSNP |
| 15 | g.48134299G>C | CA392449751 | SLC24A5 | c.343G>C (p.Ala115Pro) c.163G>C (p.Ala55Pro) n.103G>C c.4G>C (p.Ala2Pro) | |
| 15 | g.48134299G= | CA2175373710 | SLC24A5 | c.343G= (p.Ala115=) c.163G= (p.Ala55=) n.103G= c.4G= (p.Ala2=) | |
| 15 | g.48134299G>T | CA392449753 | SLC24A5 | c.343G>T (p.Ala115Ser) c.163G>T (p.Ala55Ser) n.103G>T c.4G>T (p.Ala2Ser) | |
| 15 | g.48134300C>A | CA392449755 | SLC24A5 | c.344C>A (p.Ala115Glu) c.164C>A (p.Ala55Glu) n.104C>A c.5C>A (p.Ala2Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134300C= | CA2175373713 | SLC24A5 | c.344C= (p.Ala115=) c.164C= (p.Ala55=) n.104C= c.5C= (p.Ala2=) | |
| 15 | g.48134300C>G | CA392449757 | SLC24A5 | c.344C>G (p.Ala115Gly) c.164C>G (p.Ala55Gly) n.104C>G c.5C>G (p.Ala2Gly) | |
| 15 | g.48134300C>T | CA392449759 | SLC24A5 | c.344C>T (p.Ala115Val) c.164C>T (p.Ala55Val) n.104C>T c.5C>T (p.Ala2Val) | ClinVar |