Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.72370592_72378536delinsC | CA252905 | ClinVar | ||
15 | g.72370605dup | CA2186756516 | HEXA | n.266+5117dup c.253+5117dup (n.253+5117dup) c.345dup (p.Ala116ArgfsTer6) n.284+5117dup c.254-79dup (n.254-79dup) c.339dup (p.Ala114ArgfsTer6) n.270+5117dup n.250+5117dup c.125+5117dup c.234+5117dup n.258+5117dup n.754+5117dup n.295+5117dup | dbSNP |
15 | g.72370604G>A | CA393068728 | HEXA | n.266+5116C>T c.253+5116C>T (n.253+5116C>T) c.344C>T (p.Pro115Leu) n.284+5116C>T c.254-80C>T (n.254-80C>T) c.338C>T (p.Pro113Leu) n.270+5116C>T n.250+5116C>T c.125+5116C>T c.234+5116C>T n.258+5116C>T n.754+5116C>T n.295+5116C>T | gnomAD v4 |
15 | g.72370604G>C | CA393068730 | HEXA | n.266+5116C>G c.253+5116C>G (n.253+5116C>G) c.344C>G (p.Pro115Arg) n.284+5116C>G c.254-80C>G (n.254-80C>G) c.338C>G (p.Pro113Arg) n.270+5116C>G n.250+5116C>G c.125+5116C>G c.234+5116C>G n.258+5116C>G n.754+5116C>G n.295+5116C>G | |
15 | g.72370604G>T | CA393068731 | HEXA | n.266+5116C>A c.253+5116C>A (n.253+5116C>A) c.344C>A (p.Pro115His) n.284+5116C>A c.254-80C>A (n.254-80C>A) c.338C>A (p.Pro113His) n.270+5116C>A n.250+5116C>A c.125+5116C>A c.234+5116C>A n.258+5116C>A n.754+5116C>A n.295+5116C>A | gnomAD v4 |
15 | g.72370605G>A | CA393068734 | HEXA | n.266+5115C>T c.253+5115C>T (n.253+5115C>T) c.343C>T (p.Pro115Ser) n.284+5115C>T c.254-81C>T (n.254-81C>T) c.337C>T (p.Pro113Ser) n.270+5115C>T n.250+5115C>T c.125+5115C>T c.234+5115C>T n.258+5115C>T n.754+5115C>T n.295+5115C>T | |
15 | g.72370605G>C | CA393068735 | HEXA | n.266+5115C>G c.253+5115C>G (n.253+5115C>G) c.343C>G (p.Pro115Ala) n.284+5115C>G c.254-81C>G (n.254-81C>G) c.337C>G (p.Pro113Ala) n.270+5115C>G n.250+5115C>G c.125+5115C>G c.234+5115C>G n.258+5115C>G n.754+5115C>G n.295+5115C>G | |
15 | g.72370605G>T | CA393068737 | HEXA | n.266+5115C>A c.253+5115C>A (n.253+5115C>A) c.343C>A (p.Pro115Thr) n.284+5115C>A c.254-81C>A (n.254-81C>A) c.337C>A (p.Pro113Thr) n.270+5115C>A n.250+5115C>A c.125+5115C>A c.234+5115C>A n.258+5115C>A n.754+5115C>A n.295+5115C>A | |
15 | g.72370606A>G | CA2629341951 | HEXA | n.266+5114T>C c.253+5114T>C (n.253+5114T>C) c.342T>C (p.Leu114=) n.284+5114T>C c.254-82T>C (n.254-82T>C) c.336T>C (p.Leu112=) n.270+5114T>C n.250+5114T>C c.125+5114T>C c.234+5114T>C n.258+5114T>C n.754+5114T>C n.295+5114T>C | gnomAD v4 |
15 | g.72370607A>C | CA393068740 | HEXA | n.266+5113T>G c.253+5113T>G (n.253+5113T>G) c.341T>G (p.Leu114Arg) n.284+5113T>G c.254-83T>G (n.254-83T>G) c.335T>G (p.Leu112Arg) n.270+5113T>G n.250+5113T>G c.125+5113T>G c.234+5113T>G n.258+5113T>G n.754+5113T>G n.295+5113T>G | |
15 | g.72370607A>G | CA393068741 | HEXA | n.266+5113T>C c.253+5113T>C (n.253+5113T>C) c.341T>C (p.Leu114Pro) n.284+5113T>C c.254-83T>C (n.254-83T>C) c.335T>C (p.Leu112Pro) n.270+5113T>C n.250+5113T>C c.125+5113T>C c.234+5113T>C n.258+5113T>C n.754+5113T>C n.295+5113T>C | |
15 | g.72370607A>T | CA393068743 | HEXA | n.266+5113T>A c.253+5113T>A (n.253+5113T>A) c.341T>A (p.Leu114His) n.284+5113T>A c.254-83T>A (n.254-83T>A) c.335T>A (p.Leu112His) n.270+5113T>A n.250+5113T>A c.125+5113T>A c.234+5113T>A n.258+5113T>A n.754+5113T>A n.295+5113T>A | |
15 | g.72370608G>A | CA393068748 | HEXA | n.266+5112C>T c.253+5112C>T (n.253+5112C>T) c.340C>T (p.Leu114Phe) n.284+5112C>T c.254-84C>T (n.254-84C>T) c.334C>T (p.Leu112Phe) n.270+5112C>T n.250+5112C>T c.125+5112C>T c.234+5112C>T n.258+5112C>T n.754+5112C>T n.295+5112C>T | |
15 | g.72370608G>C | CA393068747 | HEXA | n.266+5112C>G c.253+5112C>G (n.253+5112C>G) c.340C>G (p.Leu114Val) n.284+5112C>G c.254-84C>G (n.254-84C>G) c.334C>G (p.Leu112Val) n.270+5112C>G n.250+5112C>G c.125+5112C>G c.234+5112C>G n.258+5112C>G n.754+5112C>G n.295+5112C>G | |
15 | g.72370608G>T | CA393068744 | HEXA | n.266+5112C>A c.253+5112C>A (n.253+5112C>A) c.340C>A (p.Leu114Ile) n.284+5112C>A c.254-84C>A (n.254-84C>A) c.334C>A (p.Leu112Ile) n.270+5112C>A n.250+5112C>A c.125+5112C>A c.234+5112C>A n.258+5112C>A n.754+5112C>A n.295+5112C>A | |
15 | g.72370609A>C | CA393068749 | HEXA | n.266+5111T>G c.253+5111T>G (n.253+5111T>G) c.339T>G (p.Ser113Arg) n.284+5111T>G c.254-85T>G (n.254-85T>G) c.333T>G (p.Ser111Arg) n.270+5111T>G n.250+5111T>G c.125+5111T>G c.234+5111T>G n.258+5111T>G n.754+5111T>G n.295+5111T>G | |
15 | g.72370609A>G | CA2629341954 | HEXA | n.266+5111T>C c.253+5111T>C (n.253+5111T>C) c.339T>C (p.Ser113=) n.284+5111T>C c.254-85T>C (n.254-85T>C) c.333T>C (p.Ser111=) n.270+5111T>C n.250+5111T>C c.125+5111T>C c.234+5111T>C n.258+5111T>C n.754+5111T>C n.295+5111T>C | gnomAD v4 |
15 | g.72370609A>T | CA393068750 | HEXA | n.266+5111T>A c.253+5111T>A (n.253+5111T>A) c.339T>A (p.Ser113Arg) n.284+5111T>A c.254-85T>A (n.254-85T>A) c.333T>A (p.Ser111Arg) n.270+5111T>A n.250+5111T>A c.125+5111T>A c.234+5111T>A n.258+5111T>A n.754+5111T>A n.295+5111T>A | |
15 | g.72370610C>A | CA393068753 | HEXA | n.266+5110G>T c.253+5110G>T (n.253+5110G>T) c.338G>T (p.Ser113Ile) n.284+5110G>T c.254-86G>T (n.254-86G>T) c.332G>T (p.Ser111Ile) n.270+5110G>T n.250+5110G>T c.125+5110G>T c.234+5110G>T n.258+5110G>T n.754+5110G>T n.295+5110G>T | |
15 | g.72370610C>G | CA393068755 | HEXA | n.266+5110G>C c.253+5110G>C (n.253+5110G>C) c.338G>C (p.Ser113Thr) n.284+5110G>C c.254-86G>C (n.254-86G>C) c.332G>C (p.Ser111Thr) n.270+5110G>C n.250+5110G>C c.125+5110G>C c.234+5110G>C n.258+5110G>C n.754+5110G>C n.295+5110G>C | |
15 | g.72370610C>T | CA393068756 | HEXA | n.266+5110G>A c.253+5110G>A (n.253+5110G>A) c.338G>A (p.Ser113Asn) n.284+5110G>A c.254-86G>A (n.254-86G>A) c.332G>A (p.Ser111Asn) n.270+5110G>A n.250+5110G>A c.125+5110G>A c.234+5110G>A n.258+5110G>A n.754+5110G>A n.295+5110G>A | |
15 | g.72370611T>A | CA393068758 | HEXA | n.266+5109A>T c.253+5109A>T (n.253+5109A>T) c.337A>T (p.Ser113Cys) n.284+5109A>T c.254-87A>T (n.254-87A>T) c.331A>T (p.Ser111Cys) n.270+5109A>T n.250+5109A>T c.125+5109A>T c.234+5109A>T n.258+5109A>T n.754+5109A>T n.295+5109A>T | |
15 | g.72370611T>C | CA393068760 | HEXA | n.266+5109A>G c.253+5109A>G (n.253+5109A>G) c.337A>G (p.Ser113Gly) n.284+5109A>G c.254-87A>G (n.254-87A>G) c.331A>G (p.Ser111Gly) n.270+5109A>G n.250+5109A>G c.125+5109A>G c.234+5109A>G n.258+5109A>G n.754+5109A>G n.295+5109A>G | |
15 | g.72370611T>G | CA393068761 | HEXA | n.266+5109A>C c.253+5109A>C (n.253+5109A>C) c.337A>C (p.Ser113Arg) n.284+5109A>C c.254-87A>C (n.254-87A>C) c.331A>C (p.Ser111Arg) n.270+5109A>C n.250+5109A>C c.125+5109A>C c.234+5109A>C n.258+5109A>C n.754+5109A>C n.295+5109A>C | |
15 | g.72370612G>A | CA2629341955 | HEXA | n.266+5108C>T c.253+5108C>T (n.253+5108C>T) c.336C>T (p.Ser112=) n.284+5108C>T c.254-88C>T (n.254-88C>T) c.330C>T (p.Ser110=) n.270+5108C>T n.250+5108C>T c.125+5108C>T c.234+5108C>T n.258+5108C>T n.754+5108C>T n.295+5108C>T | gnomAD v4 |
15 | g.72370612G>C | CA393068765 | HEXA | n.266+5108C>G c.253+5108C>G (n.253+5108C>G) c.336C>G (p.Ser112Arg) n.284+5108C>G c.254-88C>G (n.254-88C>G) c.330C>G (p.Ser110Arg) n.270+5108C>G n.250+5108C>G c.125+5108C>G c.234+5108C>G n.258+5108C>G n.754+5108C>G n.295+5108C>G | |
15 | g.72370612G>T | CA393068763 | HEXA | n.266+5108C>A c.253+5108C>A (n.253+5108C>A) c.336C>A (p.Ser112Arg) n.284+5108C>A c.254-88C>A (n.254-88C>A) c.330C>A (p.Ser110Arg) n.270+5108C>A n.250+5108C>A c.125+5108C>A c.234+5108C>A n.258+5108C>A n.754+5108C>A n.295+5108C>A | |
15 | g.72370613C>A | CA393068766 | HEXA | n.266+5107G>T c.253+5107G>T (n.253+5107G>T) c.335G>T (p.Ser112Ile) n.284+5107G>T c.254-89G>T (n.254-89G>T) c.329G>T (p.Ser110Ile) n.270+5107G>T n.250+5107G>T c.125+5107G>T c.234+5107G>T n.258+5107G>T n.754+5107G>T n.295+5107G>T | |
15 | g.72370613C= | CA2186756518 | HEXA | n.266+5107G= c.253+5107G= (n.253+5107G=) c.335G= (p.Ser112=) n.284+5107G= c.254-89G= (n.254-89G=) c.329G= (p.Ser110=) n.270+5107G= n.250+5107G= c.125+5107G= c.234+5107G= n.258+5107G= n.754+5107G= n.295+5107G= | |
15 | g.72370613C>G | CA393068768 | HEXA | n.266+5107G>C c.253+5107G>C (n.253+5107G>C) c.335G>C (p.Ser112Thr) n.284+5107G>C c.254-89G>C (n.254-89G>C) c.329G>C (p.Ser110Thr) n.270+5107G>C n.250+5107G>C c.125+5107G>C c.234+5107G>C n.258+5107G>C n.754+5107G>C n.295+5107G>C | |
15 | g.72370613C>T | CA272627032 | HEXA | n.266+5107G>A c.253+5107G>A (n.253+5107G>A) c.335G>A (p.Ser112Asn) n.284+5107G>A c.254-89G>A (n.254-89G>A) c.329G>A (p.Ser110Asn) n.270+5107G>A n.250+5107G>A c.125+5107G>A c.234+5107G>A n.258+5107G>A n.754+5107G>A n.295+5107G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370614T>A | CA393068770 | HEXA | n.266+5106A>T c.253+5106A>T (n.253+5106A>T) c.334A>T (p.Ser112Cys) n.284+5106A>T c.254-90A>T (n.254-90A>T) c.328A>T (p.Ser110Cys) n.270+5106A>T n.250+5106A>T c.125+5106A>T c.234+5106A>T n.258+5106A>T n.754+5106A>T n.295+5106A>T | |
15 | g.72370614T>C | CA393068772 | HEXA | n.266+5106A>G c.253+5106A>G (n.253+5106A>G) c.334A>G (p.Ser112Gly) n.284+5106A>G c.254-90A>G (n.254-90A>G) c.328A>G (p.Ser110Gly) n.270+5106A>G n.250+5106A>G c.125+5106A>G c.234+5106A>G n.258+5106A>G n.754+5106A>G n.295+5106A>G | |
15 | g.72370614T>G | CA393068775 | HEXA | n.266+5106A>C c.253+5106A>C (n.253+5106A>C) c.334A>C (p.Ser112Arg) n.284+5106A>C c.254-90A>C (n.254-90A>C) c.328A>C (p.Ser110Arg) n.270+5106A>C n.250+5106A>C c.125+5106A>C c.234+5106A>C n.258+5106A>C n.754+5106A>C n.295+5106A>C | |
15 | g.72370615_72370623delinsTGAGTCCTG | CA2186756519 | HEXA | n.266+5097_266+5105delinsCAGGACTCA c.253+5097_253+5105delinsCAGGACTCA (n.253+5097_253+5105delinsCAGGACTCA) c.325_333delinsCAGGACTCA (p.Gln109=) n.284+5097_284+5105delinsCAGGACTCA c.254-99_254-91delinsCAGGACTCA (n.254-99_254-91delinsCAGGACTCA) c.319_327delinsCAGGACTCA (p.Gln107=) n.270+5097_270+5105delinsCAGGACTCA n.250+5097_250+5105delinsCAGGACTCA c.125+5097_125+5105delinsCAGGACTCA c.234+5097_234+5105delinsCAGGACTCA n.258+5097_258+5105delinsCAGGACTCA n.754+5097_754+5105delinsCAGGACTCA n.295+5097_295+5105delinsCAGGACTCA | |
15 | g.72370616G>A | CA393068776 | HEXA | n.266+5104C>T c.253+5104C>T (n.253+5104C>T) c.332C>T (p.Ser111Leu) n.284+5104C>T c.254-92C>T (n.254-92C>T) c.326C>T (p.Ser109Leu) n.270+5104C>T n.250+5104C>T c.125+5104C>T c.234+5104C>T n.258+5104C>T n.754+5104C>T n.295+5104C>T | gnomAD v4 |
15 | g.72370616G>C | CA393068779 | HEXA | n.266+5104C>G c.253+5104C>G (n.253+5104C>G) c.332C>G (p.Ser111Ter) n.284+5104C>G c.254-92C>G (n.254-92C>G) c.326C>G (p.Ser109Ter) n.270+5104C>G n.250+5104C>G c.125+5104C>G c.234+5104C>G n.258+5104C>G n.754+5104C>G n.295+5104C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370616G= | CA2186756520 | HEXA | n.266+5104C= c.253+5104C= (n.253+5104C=) c.332C= (p.Ser111=) n.284+5104C= c.254-92C= (n.254-92C=) c.326C= (p.Ser109=) n.270+5104C= n.250+5104C= c.125+5104C= c.234+5104C= n.258+5104C= n.754+5104C= n.295+5104C= | |
15 | g.72370616G>T | CA272627043 | HEXA | n.266+5104C>A c.253+5104C>A (n.253+5104C>A) c.332C>A (p.Ser111Ter) n.284+5104C>A c.254-92C>A (n.254-92C>A) c.326C>A (p.Ser109Ter) n.270+5104C>A n.250+5104C>A c.125+5104C>A c.234+5104C>A n.258+5104C>A n.754+5104C>A n.295+5104C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370620_72370627del | CA2186756521 | HEXA | n.266+5097_266+5104del c.253+5097_253+5104del (n.253+5097_253+5104del) c.325_332del (p.Gln109LysfsTer10) n.284+5097_284+5104del c.254-99_254-92del (n.254-99_254-92del) c.319_326del (p.Gln107LysfsTer10) n.270+5097_270+5104del n.250+5097_250+5104del c.125+5097_125+5104del c.234+5097_234+5104del n.258+5097_258+5104del n.754+5097_754+5104del n.295+5097_295+5104del | dbSNP |
15 | g.72370617A>C | CA393068782 | HEXA | n.266+5103T>G c.253+5103T>G (n.253+5103T>G) c.331T>G (p.Ser111Ala) n.284+5103T>G c.254-93T>G (n.254-93T>G) c.325T>G (p.Ser109Ala) n.270+5103T>G n.250+5103T>G c.125+5103T>G c.234+5103T>G n.258+5103T>G n.754+5103T>G n.295+5103T>G | |
15 | g.72370617A>G | CA393068783 | HEXA | n.266+5103T>C c.253+5103T>C (n.253+5103T>C) c.331T>C (p.Ser111Pro) n.284+5103T>C c.254-93T>C (n.254-93T>C) c.325T>C (p.Ser109Pro) n.270+5103T>C n.250+5103T>C c.125+5103T>C c.234+5103T>C n.258+5103T>C n.754+5103T>C n.295+5103T>C | |
15 | g.72370617A>T | CA393068785 | HEXA | n.266+5103T>A c.253+5103T>A (n.253+5103T>A) c.331T>A (p.Ser111Thr) n.284+5103T>A c.254-93T>A (n.254-93T>A) c.325T>A (p.Ser109Thr) n.270+5103T>A n.250+5103T>A c.125+5103T>A c.234+5103T>A n.258+5103T>A n.754+5103T>A n.295+5103T>A | |
15 | g.72370618G>A | CA715476585 | HEXA | n.266+5102C>T c.253+5102C>T (n.253+5102C>T) c.330C>T (p.Asp110=) n.284+5102C>T c.254-94C>T (n.254-94C>T) c.324C>T (p.Asp108=) n.270+5102C>T n.250+5102C>T c.125+5102C>T c.234+5102C>T n.258+5102C>T n.754+5102C>T n.295+5102C>T | dbSNP |
15 | g.72370618G>C | CA393068788 | HEXA | n.266+5102C>G c.253+5102C>G (n.253+5102C>G) c.330C>G (p.Asp110Glu) n.284+5102C>G c.254-94C>G (n.254-94C>G) c.324C>G (p.Asp108Glu) n.270+5102C>G n.250+5102C>G c.125+5102C>G c.234+5102C>G n.258+5102C>G n.754+5102C>G n.295+5102C>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370618G= | CA2186756522 | HEXA | n.266+5102C= c.253+5102C= (n.253+5102C=) c.330C= (p.Asp110=) n.284+5102C= c.254-94C= (n.254-94C=) c.324C= (p.Asp108=) n.270+5102C= n.250+5102C= c.125+5102C= c.234+5102C= n.258+5102C= n.754+5102C= n.295+5102C= | |
15 | g.72370618G>T | CA393068790 | HEXA | n.266+5102C>A c.253+5102C>A (n.253+5102C>A) c.330C>A (p.Asp110Glu) n.284+5102C>A c.254-94C>A (n.254-94C>A) c.324C>A (p.Asp108Glu) n.270+5102C>A n.250+5102C>A c.125+5102C>A c.234+5102C>A n.258+5102C>A n.754+5102C>A n.295+5102C>A | gnomAD v4 |
15 | g.72370619T>A | CA393068792 | HEXA | n.266+5101A>T c.253+5101A>T (n.253+5101A>T) c.329A>T (p.Asp110Val) n.284+5101A>T c.254-95A>T (n.254-95A>T) c.323A>T (p.Asp108Val) n.270+5101A>T n.250+5101A>T c.125+5101A>T c.234+5101A>T n.258+5101A>T n.754+5101A>T n.295+5101A>T | |
15 | g.72370619T>C | CA393068794 | HEXA | n.266+5101A>G c.253+5101A>G (n.253+5101A>G) c.329A>G (p.Asp110Gly) n.284+5101A>G c.254-95A>G (n.254-95A>G) c.323A>G (p.Asp108Gly) n.270+5101A>G n.250+5101A>G c.125+5101A>G c.234+5101A>G n.258+5101A>G n.754+5101A>G n.295+5101A>G | |
15 | g.72370619T>G | CA393068795 | HEXA | n.266+5101A>C c.253+5101A>C (n.253+5101A>C) c.329A>C (p.Asp110Ala) n.284+5101A>C c.254-95A>C (n.254-95A>C) c.323A>C (p.Asp108Ala) n.270+5101A>C n.250+5101A>C c.125+5101A>C c.234+5101A>C n.258+5101A>C n.754+5101A>C n.295+5101A>C | |
15 | g.72370620C>A | CA393068797 | HEXA | n.266+5100G>T c.253+5100G>T (n.253+5100G>T) c.328G>T (p.Asp110Tyr) n.284+5100G>T c.254-96G>T (n.254-96G>T) c.322G>T (p.Asp108Tyr) n.270+5100G>T n.250+5100G>T c.125+5100G>T c.234+5100G>T n.258+5100G>T n.754+5100G>T n.295+5100G>T | |
15 | g.72370620C>G | CA393068799 | HEXA | n.266+5100G>C c.253+5100G>C (n.253+5100G>C) c.328G>C (p.Asp110His) n.284+5100G>C c.254-96G>C (n.254-96G>C) c.322G>C (p.Asp108His) n.270+5100G>C n.250+5100G>C c.125+5100G>C c.234+5100G>C n.258+5100G>C n.754+5100G>C n.295+5100G>C | |
15 | g.72370620C>T | CA393068800 | HEXA | n.266+5100G>A c.253+5100G>A (n.253+5100G>A) c.328G>A (p.Asp110Asn) n.284+5100G>A c.254-96G>A (n.254-96G>A) c.322G>A (p.Asp108Asn) n.270+5100G>A n.250+5100G>A c.125+5100G>A c.234+5100G>A n.258+5100G>A n.754+5100G>A n.295+5100G>A | |
15 | g.72370621C>A | CA393068802 | HEXA | n.266+5099G>T c.253+5099G>T (n.253+5099G>T) c.327G>T (p.Gln109His) n.284+5099G>T c.254-97G>T (n.254-97G>T) c.321G>T (p.Gln107His) n.270+5099G>T n.250+5099G>T c.125+5099G>T c.234+5099G>T n.258+5099G>T n.754+5099G>T n.295+5099G>T | |
15 | g.72370621C>G | CA393068804 | HEXA | n.266+5099G>C c.253+5099G>C (n.253+5099G>C) c.327G>C (p.Gln109His) n.284+5099G>C c.254-97G>C (n.254-97G>C) c.321G>C (p.Gln107His) n.270+5099G>C n.250+5099G>C c.125+5099G>C c.234+5099G>C n.258+5099G>C n.754+5099G>C n.295+5099G>C | |
15 | g.72370622T>A | CA393068805 | HEXA | n.266+5098A>T c.253+5098A>T (n.253+5098A>T) c.326A>T (p.Gln109Leu) n.284+5098A>T c.254-98A>T (n.254-98A>T) c.320A>T (p.Gln107Leu) n.270+5098A>T n.250+5098A>T c.125+5098A>T c.234+5098A>T n.258+5098A>T n.754+5098A>T n.295+5098A>T | |
15 | g.72370622T>C | CA393068806 | HEXA | n.266+5098A>G c.253+5098A>G (n.253+5098A>G) c.326A>G (p.Gln109Arg) n.284+5098A>G c.254-98A>G (n.254-98A>G) c.320A>G (p.Gln107Arg) n.270+5098A>G n.250+5098A>G c.125+5098A>G c.234+5098A>G n.258+5098A>G n.754+5098A>G n.295+5098A>G | gnomAD v4 |
15 | g.72370622T>G | CA393068807 | HEXA | n.266+5098A>C c.253+5098A>C (n.253+5098A>C) c.326A>C (p.Gln109Pro) n.284+5098A>C c.254-98A>C (n.254-98A>C) c.320A>C (p.Gln107Pro) n.270+5098A>C n.250+5098A>C c.125+5098A>C c.234+5098A>C n.258+5098A>C n.754+5098A>C n.295+5098A>C | gnomAD v4 |
15 | g.72370623G>A | CA393068810 | HEXA | n.266+5097C>T c.253+5097C>T (n.253+5097C>T) c.325C>T (p.Gln109Ter) n.284+5097C>T c.254-99C>T (n.254-99C>T) c.319C>T (p.Gln107Ter) n.270+5097C>T n.250+5097C>T c.125+5097C>T c.234+5097C>T n.258+5097C>T n.754+5097C>T n.295+5097C>T | gnomAD v4 |
15 | g.72370623G>C | CA393068812 | HEXA | n.266+5097C>G c.253+5097C>G (n.253+5097C>G) c.325C>G (p.Gln109Glu) n.284+5097C>G c.254-99C>G (n.254-99C>G) c.319C>G (p.Gln107Glu) n.270+5097C>G n.250+5097C>G c.125+5097C>G c.234+5097C>G n.258+5097C>G n.754+5097C>G n.295+5097C>G | |
15 | g.72370623G>T | CA393068813 | HEXA | n.266+5097C>A c.253+5097C>A (n.253+5097C>A) c.325C>A (p.Gln109Lys) n.284+5097C>A c.254-99C>A (n.254-99C>A) c.319C>A (p.Gln107Lys) n.270+5097C>A n.250+5097C>A c.125+5097C>A c.234+5097C>A n.258+5097C>A n.754+5097C>A n.295+5097C>A | |
15 | g.72370624G>C | CA2186756524 | HEXA | n.266+5096C>G c.253+5096C>G (n.253+5096C>G) c.324C>G (p.Leu108=) n.284+5096C>G c.254-100C>G (n.254-100C>G) c.318C>G (p.Leu106=) n.270+5096C>G n.250+5096C>G c.125+5096C>G c.234+5096C>G n.258+5096C>G n.754+5096C>G n.295+5096C>G | dbSNP |
15 | g.72370624G= | CA2186756523 | HEXA | n.266+5096C= c.253+5096C= (n.253+5096C=) c.324C= (p.Leu108=) n.284+5096C= c.254-100C= (n.254-100C=) c.318C= (p.Leu106=) n.270+5096C= n.250+5096C= c.125+5096C= c.234+5096C= n.258+5096C= n.754+5096C= n.295+5096C= | |
15 | g.72370625A>C | CA393068820 | HEXA | n.266+5095T>G c.253+5095T>G (n.253+5095T>G) c.323T>G (p.Leu108Arg) n.284+5095T>G c.254-101T>G (n.254-101T>G) c.317T>G (p.Leu106Arg) n.270+5095T>G n.250+5095T>G c.125+5095T>G c.234+5095T>G n.258+5095T>G n.754+5095T>G n.295+5095T>G | |
15 | g.72370625A>G | CA393068816 | HEXA | n.266+5095T>C c.253+5095T>C (n.253+5095T>C) c.323T>C (p.Leu108Pro) n.284+5095T>C c.254-101T>C (n.254-101T>C) c.317T>C (p.Leu106Pro) n.270+5095T>C n.250+5095T>C c.125+5095T>C c.234+5095T>C n.258+5095T>C n.754+5095T>C n.295+5095T>C | |
15 | g.72370625A>T | CA393068818 | HEXA | n.266+5095T>A c.253+5095T>A (n.253+5095T>A) c.323T>A (p.Leu108His) n.284+5095T>A c.254-101T>A (n.254-101T>A) c.317T>A (p.Leu106His) n.270+5095T>A n.250+5095T>A c.125+5095T>A c.234+5095T>A n.258+5095T>A n.754+5095T>A n.295+5095T>A | |
15 | g.72370626G>A | CA393068822 | HEXA | n.266+5094C>T c.253+5094C>T (n.253+5094C>T) c.322C>T (p.Leu108Phe) n.284+5094C>T c.254-102C>T (n.254-102C>T) c.316C>T (p.Leu106Phe) n.270+5094C>T n.250+5094C>T c.125+5094C>T c.234+5094C>T n.258+5094C>T n.754+5094C>T n.295+5094C>T | dbSNP |
15 | g.72370626G>C | CA393068824 | HEXA | n.266+5094C>G c.253+5094C>G (n.253+5094C>G) c.322C>G (p.Leu108Val) n.284+5094C>G c.254-102C>G (n.254-102C>G) c.316C>G (p.Leu106Val) n.270+5094C>G n.250+5094C>G c.125+5094C>G c.234+5094C>G n.258+5094C>G n.754+5094C>G n.295+5094C>G | |
15 | g.72370626G= | CA2186756525 | HEXA | n.266+5094C= c.253+5094C= (n.253+5094C=) c.322C= (p.Leu108=) n.284+5094C= c.254-102C= (n.254-102C=) c.316C= (p.Leu106=) n.270+5094C= n.250+5094C= c.125+5094C= c.234+5094C= n.258+5094C= n.754+5094C= n.295+5094C= | |
15 | g.72370626G>T | CA393068826 | HEXA | n.266+5094C>A c.253+5094C>A (n.253+5094C>A) c.322C>A (p.Leu108Ile) n.284+5094C>A c.254-102C>A (n.254-102C>A) c.316C>A (p.Leu106Ile) n.270+5094C>A n.250+5094C>A c.125+5094C>A c.234+5094C>A n.258+5094C>A n.754+5094C>A n.295+5094C>A | |
15 | g.72370627T>A | CA393068828 | HEXA | n.266+5093A>T c.253+5093A>T (n.253+5093A>T) c.321A>T (p.Glu107Asp) n.284+5093A>T c.254-103A>T (n.254-103A>T) c.315A>T (p.Glu105Asp) n.270+5093A>T n.250+5093A>T c.125+5093A>T c.234+5093A>T n.258+5093A>T n.754+5093A>T n.295+5093A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370627T>C | CA2804697580 | HEXA | n.266+5093A>G c.253+5093A>G (n.253+5093A>G) c.321A>G (p.Glu107=) n.284+5093A>G c.254-103A>G (n.254-103A>G) c.315A>G (p.Glu105=) n.270+5093A>G n.250+5093A>G c.125+5093A>G c.234+5093A>G n.258+5093A>G n.754+5093A>G n.295+5093A>G | |
15 | g.72370627T>G | CA393068830 | HEXA | n.266+5093A>C c.253+5093A>C (n.253+5093A>C) c.321A>C (p.Glu107Asp) n.284+5093A>C c.254-103A>C (n.254-103A>C) c.315A>C (p.Glu105Asp) n.270+5093A>C n.250+5093A>C c.125+5093A>C c.234+5093A>C n.258+5093A>C n.754+5093A>C n.295+5093A>C | |
15 | g.72370627T= | CA2186756526 | HEXA | n.266+5093A= c.253+5093A= (n.253+5093A=) c.321A= (p.Glu107=) n.284+5093A= c.254-103A= (n.254-103A=) c.315A= (p.Glu105=) n.270+5093A= n.250+5093A= c.125+5093A= c.234+5093A= n.258+5093A= n.754+5093A= n.295+5093A= | |
15 | g.72370628T>A | CA393068832 | HEXA | n.266+5092A>T c.253+5092A>T (n.253+5092A>T) c.320A>T (p.Glu107Val) n.284+5092A>T c.254-104A>T (n.254-104A>T) c.314A>T (p.Glu105Val) n.270+5092A>T n.250+5092A>T c.125+5092A>T c.234+5092A>T n.258+5092A>T n.754+5092A>T n.295+5092A>T | |
15 | g.72370628T>C | CA393068836 | HEXA | n.266+5092A>G c.253+5092A>G (n.253+5092A>G) c.320A>G (p.Glu107Gly) n.284+5092A>G c.254-104A>G (n.254-104A>G) c.314A>G (p.Glu105Gly) n.270+5092A>G n.250+5092A>G c.125+5092A>G c.234+5092A>G n.258+5092A>G n.754+5092A>G n.295+5092A>G | |
15 | g.72370628T>G | CA393068834 | HEXA | n.266+5092A>C c.253+5092A>C (n.253+5092A>C) c.320A>C (p.Glu107Ala) n.284+5092A>C c.254-104A>C (n.254-104A>C) c.314A>C (p.Glu105Ala) n.270+5092A>C n.250+5092A>C c.125+5092A>C c.234+5092A>C n.258+5092A>C n.754+5092A>C n.295+5092A>C | |
15 | g.72370629C>A | CA393068838 | HEXA | n.266+5091G>T c.253+5091G>T (n.253+5091G>T) c.319G>T (p.Glu107Ter) n.284+5091G>T c.254-105G>T (n.254-105G>T) c.313G>T (p.Glu105Ter) n.270+5091G>T n.250+5091G>T c.125+5091G>T c.234+5091G>T n.258+5091G>T n.754+5091G>T n.295+5091G>T | dbSNP gnomAD v4 |
15 | g.72370629C= | CA2186756527 | HEXA | n.266+5091G= c.253+5091G= (n.253+5091G=) c.319G= (p.Glu107=) n.284+5091G= c.254-105G= (n.254-105G=) c.313G= (p.Glu105=) n.270+5091G= n.250+5091G= c.125+5091G= c.234+5091G= n.258+5091G= n.754+5091G= n.295+5091G= | |
15 | g.72370629C>G | CA393068840 | HEXA | n.266+5091G>C c.253+5091G>C (n.253+5091G>C) c.319G>C (p.Glu107Gln) n.284+5091G>C c.254-105G>C (n.254-105G>C) c.313G>C (p.Glu105Gln) n.270+5091G>C n.250+5091G>C c.125+5091G>C c.234+5091G>C n.258+5091G>C n.754+5091G>C n.295+5091G>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370629C>T | CA272627044 | HEXA | n.266+5091G>A c.253+5091G>A (n.253+5091G>A) c.319G>A (p.Glu107Lys) n.284+5091G>A c.254-105G>A (n.254-105G>A) c.313G>A (p.Glu105Lys) n.270+5091G>A n.250+5091G>A c.125+5091G>A c.234+5091G>A n.258+5091G>A n.754+5091G>A n.295+5091G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370630G>A | CA715476608 | HEXA | n.266+5090C>T c.253+5090C>T (n.253+5090C>T) c.318C>T (p.Leu106=) n.284+5090C>T c.254-106C>T (n.254-106C>T) c.312C>T (p.Leu104=) n.270+5090C>T n.250+5090C>T c.125+5090C>T c.234+5090C>T n.258+5090C>T n.754+5090C>T n.295+5090C>T | dbSNP gnomAD v4 |
15 | g.72370630G= | CA2186756528 | HEXA | n.266+5090C= c.253+5090C= (n.253+5090C=) c.318C= (p.Leu106=) n.284+5090C= c.254-106C= (n.254-106C=) c.312C= (p.Leu104=) n.270+5090C= n.250+5090C= c.125+5090C= c.234+5090C= n.258+5090C= n.754+5090C= n.295+5090C= | |
15 | g.72370631A>C | CA393068842 | HEXA | n.266+5089T>G c.253+5089T>G (n.253+5089T>G) c.317T>G (p.Leu106Arg) n.284+5089T>G c.254-107T>G (n.254-107T>G) c.311T>G (p.Leu104Arg) n.270+5089T>G n.250+5089T>G c.125+5089T>G c.234+5089T>G n.258+5089T>G n.754+5089T>G n.295+5089T>G | |
15 | g.72370631A>G | CA393068845 | HEXA | n.266+5089T>C c.253+5089T>C (n.253+5089T>C) c.317T>C (p.Leu106Pro) n.284+5089T>C c.254-107T>C (n.254-107T>C) c.311T>C (p.Leu104Pro) n.270+5089T>C n.250+5089T>C c.125+5089T>C c.234+5089T>C n.258+5089T>C n.754+5089T>C n.295+5089T>C | |
15 | g.72370631A>T | CA393068847 | HEXA | n.266+5089T>A c.253+5089T>A (n.253+5089T>A) c.317T>A (p.Leu106His) n.284+5089T>A c.254-107T>A (n.254-107T>A) c.311T>A (p.Leu104His) n.270+5089T>A n.250+5089T>A c.125+5089T>A c.234+5089T>A n.258+5089T>A n.754+5089T>A n.295+5089T>A | |
15 | g.72370632G>A | CA272627046 | HEXA | n.266+5088C>T c.253+5088C>T (n.253+5088C>T) c.316C>T (p.Leu106Phe) n.284+5088C>T c.254-108C>T (n.254-108C>T) c.310C>T (p.Leu104Phe) n.270+5088C>T n.250+5088C>T c.125+5088C>T c.234+5088C>T n.258+5088C>T n.754+5088C>T n.295+5088C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370632G>C | CA393068848 | HEXA | n.266+5088C>G c.253+5088C>G (n.253+5088C>G) c.316C>G (p.Leu106Val) n.284+5088C>G c.254-108C>G (n.254-108C>G) c.310C>G (p.Leu104Val) n.270+5088C>G n.250+5088C>G c.125+5088C>G c.234+5088C>G n.258+5088C>G n.754+5088C>G n.295+5088C>G | |
15 | g.72370632G= | CA2186756529 | HEXA | n.266+5088C= c.253+5088C= (n.253+5088C=) c.316C= (p.Leu106=) n.284+5088C= c.254-108C= (n.254-108C=) c.310C= (p.Leu104=) n.270+5088C= n.250+5088C= c.125+5088C= c.234+5088C= n.258+5088C= n.754+5088C= n.295+5088C= | |
15 | g.72370632G>T | CA393068849 | HEXA | n.266+5088C>A c.253+5088C>A (n.253+5088C>A) c.316C>A (p.Leu106Ile) n.284+5088C>A c.254-108C>A (n.254-108C>A) c.310C>A (p.Leu104Ile) n.270+5088C>A n.250+5088C>A c.125+5088C>A c.234+5088C>A n.258+5088C>A n.754+5088C>A n.295+5088C>A | |
15 | g.72370633del | CA2629342001 | HEXA | n.266+5088del c.253+5088del (n.253+5088del) c.316del (p.Leu106SerfsTer13) n.284+5088del c.254-108del (n.254-108del) c.310del (p.Leu104SerfsTer13) n.270+5088del n.250+5088del c.125+5088del c.234+5088del n.258+5088del n.754+5088del n.295+5088del | gnomAD v4 |
15 | g.72370633G>A | CA715476616 | HEXA | n.266+5087C>T c.253+5087C>T (n.253+5087C>T) c.315C>T (p.Asn105=) n.284+5087C>T c.254-109C>T (n.254-109C>T) c.309C>T (p.Asn103=) n.270+5087C>T n.250+5087C>T c.125+5087C>T c.234+5087C>T n.258+5087C>T n.754+5087C>T n.295+5087C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370633G>C | CA393068850 | HEXA | n.266+5087C>G c.253+5087C>G (n.253+5087C>G) c.315C>G (p.Asn105Lys) n.284+5087C>G c.254-109C>G (n.254-109C>G) c.309C>G (p.Asn103Lys) n.270+5087C>G n.250+5087C>G c.125+5087C>G c.234+5087C>G n.258+5087C>G n.754+5087C>G n.295+5087C>G | |
15 | g.72370633G= | CA2186756530 | HEXA | n.266+5087C= c.253+5087C= (n.253+5087C=) c.315C= (p.Asn105=) n.284+5087C= c.254-109C= (n.254-109C=) c.309C= (p.Asn103=) n.270+5087C= n.250+5087C= c.125+5087C= c.234+5087C= n.258+5087C= n.754+5087C= n.295+5087C= | |
15 | g.72370633G>T | CA393068851 | HEXA | n.266+5087C>A c.253+5087C>A (n.253+5087C>A) c.315C>A (p.Asn105Lys) n.284+5087C>A c.254-109C>A (n.254-109C>A) c.309C>A (p.Asn103Lys) n.270+5087C>A n.250+5087C>A c.125+5087C>A c.234+5087C>A n.258+5087C>A n.754+5087C>A n.295+5087C>A | |
15 | g.72370634T>A | CA393068856 | HEXA | n.266+5086A>T c.253+5086A>T (n.253+5086A>T) c.314A>T (p.Asn105Ile) n.284+5086A>T c.254-110A>T (n.254-110A>T) c.308A>T (p.Asn103Ile) n.270+5086A>T n.250+5086A>T c.125+5086A>T c.234+5086A>T n.258+5086A>T n.754+5086A>T n.295+5086A>T | |
15 | g.72370634T>C | CA393068855 | HEXA | n.266+5086A>G c.253+5086A>G (n.253+5086A>G) c.314A>G (p.Asn105Ser) n.284+5086A>G c.254-110A>G (n.254-110A>G) c.308A>G (p.Asn103Ser) n.270+5086A>G n.250+5086A>G c.125+5086A>G c.234+5086A>G n.258+5086A>G n.754+5086A>G n.295+5086A>G | dbSNP |
15 | g.72370634T>G | CA393068854 | HEXA | n.266+5086A>C c.253+5086A>C (n.253+5086A>C) c.314A>C (p.Asn105Thr) n.284+5086A>C c.254-110A>C (n.254-110A>C) c.308A>C (p.Asn103Thr) n.270+5086A>C n.250+5086A>C c.125+5086A>C c.234+5086A>C n.258+5086A>C n.754+5086A>C n.295+5086A>C | dbSNP |
15 | g.72370634T= | CA2186756531 | HEXA | n.266+5086A= c.253+5086A= (n.253+5086A=) c.314A= (p.Asn105=) n.284+5086A= c.254-110A= (n.254-110A=) c.308A= (p.Asn103=) n.270+5086A= n.250+5086A= c.125+5086A= c.234+5086A= n.258+5086A= n.754+5086A= n.295+5086A= | |
15 | g.72370635T>A | CA393068862 | HEXA | n.266+5085A>T c.253+5085A>T (n.253+5085A>T) c.313A>T (p.Asn105Tyr) n.284+5085A>T c.254-111A>T (n.254-111A>T) c.307A>T (p.Asn103Tyr) n.270+5085A>T n.250+5085A>T c.125+5085A>T c.234+5085A>T n.258+5085A>T n.754+5085A>T n.295+5085A>T | |
15 | g.72370635T>C | CA393068859 | HEXA | n.266+5085A>G c.253+5085A>G (n.253+5085A>G) c.313A>G (p.Asn105Asp) n.284+5085A>G c.254-111A>G (n.254-111A>G) c.307A>G (p.Asn103Asp) n.270+5085A>G n.250+5085A>G c.125+5085A>G c.234+5085A>G n.258+5085A>G n.754+5085A>G n.295+5085A>G | |
15 | g.72370635T>G | CA393068861 | HEXA | n.266+5085A>C c.253+5085A>C (n.253+5085A>C) c.313A>C (p.Asn105His) n.284+5085A>C c.254-111A>C (n.254-111A>C) c.307A>C (p.Asn103His) n.270+5085A>C n.250+5085A>C c.125+5085A>C c.234+5085A>C n.258+5085A>C n.754+5085A>C n.295+5085A>C | |
15 | g.72370636G>C | CA393068865 | HEXA | n.266+5084C>G c.253+5084C>G (n.253+5084C>G) c.312C>G (p.Ser104Arg) n.284+5084C>G c.254-112C>G (n.254-112C>G) c.306C>G (p.Ser102Arg) n.270+5084C>G n.250+5084C>G c.125+5084C>G c.234+5084C>G n.258+5084C>G n.754+5084C>G n.295+5084C>G | |
15 | g.72370636G>T | CA393068867 | HEXA | n.266+5084C>A c.253+5084C>A (n.253+5084C>A) c.312C>A (p.Ser104Arg) n.284+5084C>A c.254-112C>A (n.254-112C>A) c.306C>A (p.Ser102Arg) n.270+5084C>A n.250+5084C>A c.125+5084C>A c.234+5084C>A n.258+5084C>A n.754+5084C>A n.295+5084C>A | |
15 | g.72370637C>A | CA393068869 | HEXA | n.266+5083G>T c.253+5083G>T (n.253+5083G>T) c.311G>T (p.Ser104Ile) n.284+5083G>T c.254-113G>T (n.254-113G>T) c.305G>T (p.Ser102Ile) n.270+5083G>T n.250+5083G>T c.125+5083G>T c.234+5083G>T n.258+5083G>T n.754+5083G>T n.295+5083G>T | gnomAD v4 |
15 | g.72370637C>G | CA393068871 | HEXA | n.266+5083G>C c.253+5083G>C (n.253+5083G>C) c.311G>C (p.Ser104Thr) n.284+5083G>C c.254-113G>C (n.254-113G>C) c.305G>C (p.Ser102Thr) n.270+5083G>C n.250+5083G>C c.125+5083G>C c.234+5083G>C n.258+5083G>C n.754+5083G>C n.295+5083G>C | |
15 | g.72370637C>T | CA393068873 | HEXA | n.266+5083G>A c.253+5083G>A (n.253+5083G>A) c.311G>A (p.Ser104Asn) n.284+5083G>A c.254-113G>A (n.254-113G>A) c.305G>A (p.Ser102Asn) n.270+5083G>A n.250+5083G>A c.125+5083G>A c.234+5083G>A n.258+5083G>A n.754+5083G>A n.295+5083G>A | gnomAD v4 |
15 | g.72370638T>A | CA393068878 | HEXA | n.266+5082A>T c.253+5082A>T (n.253+5082A>T) c.310A>T (p.Ser104Cys) n.284+5082A>T c.254-114A>T (n.254-114A>T) c.304A>T (p.Ser102Cys) n.270+5082A>T n.250+5082A>T c.125+5082A>T c.234+5082A>T n.258+5082A>T n.754+5082A>T n.295+5082A>T | |
15 | g.72370638T>C | CA393068876 | HEXA | n.266+5082A>G c.253+5082A>G (n.253+5082A>G) c.310A>G (p.Ser104Gly) n.284+5082A>G c.254-114A>G (n.254-114A>G) c.304A>G (p.Ser102Gly) n.270+5082A>G n.250+5082A>G c.125+5082A>G c.234+5082A>G n.258+5082A>G n.754+5082A>G n.295+5082A>G | |
15 | g.72370638T>G | CA393068877 | HEXA | n.266+5082A>C c.253+5082A>C (n.253+5082A>C) c.310A>C (p.Ser104Arg) n.284+5082A>C c.254-114A>C (n.254-114A>C) c.304A>C (p.Ser102Arg) n.270+5082A>C n.250+5082A>C c.125+5082A>C c.234+5082A>C n.258+5082A>C n.754+5082A>C n.295+5082A>C | |
15 | g.72370639G>A | CA2186756533 | HEXA | n.266+5081C>T c.253+5081C>T (n.253+5081C>T) c.309C>T (p.Tyr103=) n.284+5081C>T c.254-115C>T (n.254-115C>T) c.303C>T (p.Tyr101=) n.270+5081C>T n.250+5081C>T c.125+5081C>T c.234+5081C>T n.258+5081C>T n.754+5081C>T n.295+5081C>T | dbSNP |
15 | g.72370639G>C | CA393068880 | HEXA | n.266+5081C>G c.253+5081C>G (n.253+5081C>G) c.309C>G (p.Tyr103Ter) n.284+5081C>G c.254-115C>G (n.254-115C>G) c.303C>G (p.Tyr101Ter) n.270+5081C>G n.250+5081C>G c.125+5081C>G c.234+5081C>G n.258+5081C>G n.754+5081C>G n.295+5081C>G | gnomAD v4 |
15 | g.72370639G= | CA2186756532 | HEXA | n.266+5081C= c.253+5081C= (n.253+5081C=) c.309C= (p.Tyr103=) n.284+5081C= c.254-115C= (n.254-115C=) c.303C= (p.Tyr101=) n.270+5081C= n.250+5081C= c.125+5081C= c.234+5081C= n.258+5081C= n.754+5081C= n.295+5081C= | |
15 | g.72370639G>T | CA393068882 | HEXA | n.266+5081C>A c.253+5081C>A (n.253+5081C>A) c.309C>A (p.Tyr103Ter) n.284+5081C>A c.254-115C>A (n.254-115C>A) c.303C>A (p.Tyr101Ter) n.270+5081C>A n.250+5081C>A c.125+5081C>A c.234+5081C>A n.258+5081C>A n.754+5081C>A n.295+5081C>A | |
15 | g.72370640del | CA2804697581 | HEXA | n.266+5080del c.253+5080del (n.253+5080del) c.308del (p.Tyr103SerfsTer16) n.284+5080del c.254-116del (n.254-116del) c.302del (p.Tyr101SerfsTer16) n.270+5080del n.250+5080del c.125+5080del c.234+5080del n.258+5080del n.754+5080del n.295+5080del | |
15 | g.72370640T>A | CA393068884 | HEXA | n.266+5080A>T c.253+5080A>T (n.253+5080A>T) c.308A>T (p.Tyr103Phe) n.284+5080A>T c.254-116A>T (n.254-116A>T) c.302A>T (p.Tyr101Phe) n.270+5080A>T n.250+5080A>T c.125+5080A>T c.234+5080A>T n.258+5080A>T n.754+5080A>T n.295+5080A>T | |
15 | g.72370640T>C | CA272627053 | HEXA | n.266+5080A>G c.253+5080A>G (n.253+5080A>G) c.308A>G (p.Tyr103Cys) n.284+5080A>G c.254-116A>G (n.254-116A>G) c.302A>G (p.Tyr101Cys) n.270+5080A>G n.250+5080A>G c.125+5080A>G c.234+5080A>G n.258+5080A>G n.754+5080A>G n.295+5080A>G | dbSNP gnomAD v4 |
15 | g.72370640T>G | CA393068886 | HEXA | n.266+5080A>C c.253+5080A>C (n.253+5080A>C) c.308A>C (p.Tyr103Ser) n.284+5080A>C c.254-116A>C (n.254-116A>C) c.302A>C (p.Tyr101Ser) n.270+5080A>C n.250+5080A>C c.125+5080A>C c.234+5080A>C n.258+5080A>C n.754+5080A>C n.295+5080A>C | |
15 | g.72370640T= | CA2186756534 | HEXA | n.266+5080A= c.253+5080A= (n.253+5080A=) c.308A= (p.Tyr103=) n.284+5080A= c.254-116A= (n.254-116A=) c.302A= (p.Tyr101=) n.270+5080A= n.250+5080A= c.125+5080A= c.234+5080A= n.258+5080A= n.754+5080A= n.295+5080A= | |
15 | g.72370641A>C | CA393068892 | HEXA | n.266+5079T>G c.253+5079T>G (n.253+5079T>G) c.307T>G (p.Tyr103Asp) n.284+5079T>G c.254-117T>G (n.254-117T>G) c.301T>G (p.Tyr101Asp) n.270+5079T>G n.250+5079T>G c.125+5079T>G c.234+5079T>G n.258+5079T>G n.754+5079T>G n.295+5079T>G | |
15 | g.72370641A>G | CA393068889 | HEXA | n.266+5079T>C c.253+5079T>C (n.253+5079T>C) c.307T>C (p.Tyr103His) n.284+5079T>C c.254-117T>C (n.254-117T>C) c.301T>C (p.Tyr101His) n.270+5079T>C n.250+5079T>C c.125+5079T>C c.234+5079T>C n.258+5079T>C n.754+5079T>C n.295+5079T>C | |
15 | g.72370641A>T | CA393068891 | HEXA | n.266+5079T>A c.253+5079T>A (n.253+5079T>A) c.307T>A (p.Tyr103Asn) n.284+5079T>A c.254-117T>A (n.254-117T>A) c.301T>A (p.Tyr101Asn) n.270+5079T>A n.250+5079T>A c.125+5079T>A c.234+5079T>A n.258+5079T>A n.754+5079T>A n.295+5079T>A | |
15 | g.72370643G>A | CA393068896 | HEXA | n.266+5077C>T c.253+5077C>T (n.253+5077C>T) c.305C>T (p.Ala102Val) n.284+5077C>T c.254-119C>T (n.254-119C>T) c.299C>T (p.Ala100Val) n.270+5077C>T n.250+5077C>T c.125+5077C>T c.234+5077C>T n.258+5077C>T n.754+5077C>T n.295+5077C>T | gnomAD v4 |
15 | g.72370643G>C | CA393068897 | HEXA | n.266+5077C>G c.253+5077C>G (n.253+5077C>G) c.305C>G (p.Ala102Gly) n.284+5077C>G c.254-119C>G (n.254-119C>G) c.299C>G (p.Ala100Gly) n.270+5077C>G n.250+5077C>G c.125+5077C>G c.234+5077C>G n.258+5077C>G n.754+5077C>G n.295+5077C>G | |
15 | g.72370643G>T | CA393068899 | HEXA | n.266+5077C>A c.253+5077C>A (n.253+5077C>A) c.305C>A (p.Ala102Asp) n.284+5077C>A c.254-119C>A (n.254-119C>A) c.299C>A (p.Ala100Asp) n.270+5077C>A n.250+5077C>A c.125+5077C>A c.234+5077C>A n.258+5077C>A n.754+5077C>A n.295+5077C>A | |
15 | g.72370644C>A | CA393068901 | HEXA | n.266+5076G>T c.253+5076G>T (n.253+5076G>T) c.304G>T (p.Ala102Ser) n.284+5076G>T c.254-120G>T (n.254-120G>T) c.298G>T (p.Ala100Ser) n.270+5076G>T n.250+5076G>T c.125+5076G>T c.234+5076G>T n.258+5076G>T n.754+5076G>T n.295+5076G>T | |
15 | g.72370644C>G | CA393068903 | HEXA | n.266+5076G>C c.253+5076G>C (n.253+5076G>C) c.304G>C (p.Ala102Pro) n.284+5076G>C c.254-120G>C (n.254-120G>C) c.298G>C (p.Ala100Pro) n.270+5076G>C n.250+5076G>C c.125+5076G>C c.234+5076G>C n.258+5076G>C n.754+5076G>C n.295+5076G>C | |
15 | g.72370644C>T | CA393068905 | HEXA | n.266+5076G>A c.253+5076G>A (n.253+5076G>A) c.304G>A (p.Ala102Thr) n.284+5076G>A c.254-120G>A (n.254-120G>A) c.298G>A (p.Ala100Thr) n.270+5076G>A n.250+5076G>A c.125+5076G>A c.234+5076G>A n.258+5076G>A n.754+5076G>A n.295+5076G>A | gnomAD v4 |
15 | g.72370645C>A | CA2629342056 | HEXA | n.266+5075G>T c.253+5075G>T (n.253+5075G>T) c.303G>T (p.Thr101=) n.284+5075G>T c.254-121G>T (n.254-121G>T) c.297G>T (p.Thr99=) n.270+5075G>T n.250+5075G>T c.125+5075G>T c.234+5075G>T n.258+5075G>T n.754+5075G>T n.295+5075G>T | gnomAD v4 |
15 | g.72370645C= | CA2186756535 | HEXA | n.266+5075G= c.253+5075G= (n.253+5075G=) c.303G= (p.Thr101=) n.284+5075G= c.254-121G= (n.254-121G=) c.297G= (p.Thr99=) n.270+5075G= n.250+5075G= c.125+5075G= c.234+5075G= n.258+5075G= n.754+5075G= n.295+5075G= | |
15 | g.72370645C>T | CA618769298 | HEXA | n.266+5075G>A c.253+5075G>A (n.253+5075G>A) c.303G>A (p.Thr101=) n.284+5075G>A c.254-121G>A (n.254-121G>A) c.297G>A (p.Thr99=) n.270+5075G>A n.250+5075G>A c.125+5075G>A c.234+5075G>A n.258+5075G>A n.754+5075G>A n.295+5075G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370646G>A | CA272627060 | HEXA | n.266+5074C>T c.253+5074C>T (n.253+5074C>T) c.302C>T (p.Thr101Met) n.284+5074C>T c.254-122C>T (n.254-122C>T) c.296C>T (p.Thr99Met) n.270+5074C>T n.250+5074C>T c.125+5074C>T c.234+5074C>T n.258+5074C>T n.754+5074C>T n.295+5074C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370646G>C | CA393068909 | HEXA | n.266+5074C>G c.253+5074C>G (n.253+5074C>G) c.302C>G (p.Thr101Arg) n.284+5074C>G c.254-122C>G (n.254-122C>G) c.296C>G (p.Thr99Arg) n.270+5074C>G n.250+5074C>G c.125+5074C>G c.234+5074C>G n.258+5074C>G n.754+5074C>G n.295+5074C>G | |
15 | g.72370646G= | CA2186756537 | HEXA | n.266+5074C= c.253+5074C= (n.253+5074C=) c.302C= (p.Thr101=) n.284+5074C= c.254-122C= (n.254-122C=) c.296C= (p.Thr99=) n.270+5074C= n.250+5074C= c.125+5074C= c.234+5074C= n.258+5074C= n.754+5074C= n.295+5074C= | |
15 | g.72370646G>T | CA393068910 | HEXA | n.266+5074C>A c.253+5074C>A (n.253+5074C>A) c.302C>A (p.Thr101Lys) n.284+5074C>A c.254-122C>A (n.254-122C>A) c.296C>A (p.Thr99Lys) n.270+5074C>A n.250+5074C>A c.125+5074C>A c.234+5074C>A n.258+5074C>A n.754+5074C>A n.295+5074C>A | |
15 | g.72370646_72370649dup | CA2186756536 | HEXA | n.266+5071_266+5074dup c.253+5071_253+5074dup (n.253+5071_253+5074dup) c.299_302dup (p.Ala102HisfsTer21) n.284+5071_284+5074dup c.254-125_254-122dup (n.254-125_254-122dup) c.293_296dup (p.Ala100HisfsTer21) n.270+5071_270+5074dup n.250+5071_250+5074dup c.125+5071_125+5074dup c.234+5071_234+5074dup n.258+5071_258+5074dup n.754+5071_754+5074dup n.295+5071_295+5074dup | dbSNP |
15 | g.72370647T>A | CA393068913 | HEXA | n.266+5073A>T c.253+5073A>T (n.253+5073A>T) c.301A>T (p.Thr101Ser) n.284+5073A>T c.254-123A>T (n.254-123A>T) c.295A>T (p.Thr99Ser) n.270+5073A>T n.250+5073A>T c.125+5073A>T c.234+5073A>T n.258+5073A>T n.754+5073A>T n.295+5073A>T | gnomAD v4 |
15 | g.72370647T>C | CA393068915 | HEXA | n.266+5073A>G c.253+5073A>G (n.253+5073A>G) c.301A>G (p.Thr101Ala) n.284+5073A>G c.254-123A>G (n.254-123A>G) c.295A>G (p.Thr99Ala) n.270+5073A>G n.250+5073A>G c.125+5073A>G c.234+5073A>G n.258+5073A>G n.754+5073A>G n.295+5073A>G | |
15 | g.72370647T>G | CA393068917 | HEXA | n.266+5073A>C c.253+5073A>C (n.253+5073A>C) c.301A>C (p.Thr101Pro) n.284+5073A>C c.254-123A>C (n.254-123A>C) c.295A>C (p.Thr99Pro) n.270+5073A>C n.250+5073A>C c.125+5073A>C c.234+5073A>C n.258+5073A>C n.754+5073A>C n.295+5073A>C | |
15 | g.72370648G>A | CA2629342068 | HEXA | n.266+5072C>T c.253+5072C>T (n.253+5072C>T) c.300C>T (p.Ile100=) n.284+5072C>T c.254-124C>T (n.254-124C>T) c.294C>T (p.Ile98=) n.270+5072C>T n.250+5072C>T c.125+5072C>T c.234+5072C>T n.258+5072C>T n.754+5072C>T n.295+5072C>T | gnomAD v4 |
15 | g.72370648G>C | CA393068918 | HEXA | n.266+5072C>G c.253+5072C>G (n.253+5072C>G) c.300C>G (p.Ile100Met) n.284+5072C>G c.254-124C>G (n.254-124C>G) c.294C>G (p.Ile98Met) n.270+5072C>G n.250+5072C>G c.125+5072C>G c.234+5072C>G n.258+5072C>G n.754+5072C>G n.295+5072C>G | |
15 | g.72370648G>T | CA2629342069 | HEXA | n.266+5072C>A c.253+5072C>A (n.253+5072C>A) c.300C>A (p.Ile100=) n.284+5072C>A c.254-124C>A (n.254-124C>A) c.294C>A (p.Ile98=) n.270+5072C>A n.250+5072C>A c.125+5072C>A c.234+5072C>A n.258+5072C>A n.754+5072C>A n.295+5072C>A | gnomAD v4 |
15 | g.72370649A>C | CA393068919 | HEXA | n.266+5071T>G c.253+5071T>G (n.253+5071T>G) c.299T>G (p.Ile100Ser) n.284+5071T>G c.254-125T>G (n.254-125T>G) c.293T>G (p.Ile98Ser) n.270+5071T>G n.250+5071T>G c.125+5071T>G c.234+5071T>G n.258+5071T>G n.754+5071T>G n.295+5071T>G | |
15 | g.72370649A>G | CA393068921 | HEXA | n.266+5071T>C c.253+5071T>C (n.253+5071T>C) c.299T>C (p.Ile100Thr) n.284+5071T>C c.254-125T>C (n.254-125T>C) c.293T>C (p.Ile98Thr) n.270+5071T>C n.250+5071T>C c.125+5071T>C c.234+5071T>C n.258+5071T>C n.754+5071T>C n.295+5071T>C | |
15 | g.72370649A>T | CA393068920 | HEXA | n.266+5071T>A c.253+5071T>A (n.253+5071T>A) c.299T>A (p.Ile100Asn) n.284+5071T>A c.254-125T>A (n.254-125T>A) c.293T>A (p.Ile98Asn) n.270+5071T>A n.250+5071T>A c.125+5071T>A c.234+5071T>A n.258+5071T>A n.754+5071T>A n.295+5071T>A | |
15 | g.72370650T>A | CA393068922 | HEXA | n.266+5070A>T c.253+5070A>T (n.253+5070A>T) c.298A>T (p.Ile100Phe) n.284+5070A>T c.254-126A>T (n.254-126A>T) c.292A>T (p.Ile98Phe) n.270+5070A>T n.250+5070A>T c.125+5070A>T c.234+5070A>T n.258+5070A>T n.754+5070A>T n.295+5070A>T | |
15 | g.72370650T>C | CA393068923 | HEXA | n.266+5070A>G c.253+5070A>G (n.253+5070A>G) c.298A>G (p.Ile100Val) n.284+5070A>G c.254-126A>G (n.254-126A>G) c.292A>G (p.Ile98Val) n.270+5070A>G n.250+5070A>G c.125+5070A>G c.234+5070A>G n.258+5070A>G n.754+5070A>G n.295+5070A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370650T>G | CA393068925 | HEXA | n.266+5070A>C c.253+5070A>C (n.253+5070A>C) c.298A>C (p.Ile100Leu) n.284+5070A>C c.254-126A>C (n.254-126A>C) c.292A>C (p.Ile98Leu) n.270+5070A>C n.250+5070A>C c.125+5070A>C c.234+5070A>C n.258+5070A>C n.754+5070A>C n.295+5070A>C | |
15 | g.72370650T= | CA2186756538 | HEXA | n.266+5070A= c.253+5070A= (n.253+5070A=) c.298A= (p.Ile100=) n.284+5070A= c.254-126A= (n.254-126A=) c.292A= (p.Ile98=) n.270+5070A= n.250+5070A= c.125+5070A= c.234+5070A= n.258+5070A= n.754+5070A= n.295+5070A= | |
15 | g.72370652A>C | CA393068927 | HEXA | n.266+5068T>G c.253+5068T>G (n.253+5068T>G) c.296T>G (p.Val99Gly) n.284+5068T>G c.254-128T>G (n.254-128T>G) c.290T>G (p.Val97Gly) n.270+5068T>G n.250+5068T>G c.125+5068T>G c.234+5068T>G n.258+5068T>G n.754+5068T>G n.295+5068T>G | |
15 | g.72370652A>G | CA393068929 | HEXA | n.266+5068T>C c.253+5068T>C (n.253+5068T>C) c.296T>C (p.Val99Ala) n.284+5068T>C c.254-128T>C (n.254-128T>C) c.290T>C (p.Val97Ala) n.270+5068T>C n.250+5068T>C c.125+5068T>C c.234+5068T>C n.258+5068T>C n.754+5068T>C n.295+5068T>C | gnomAD v4 |
15 | g.72370652A>T | CA393068930 | HEXA | n.266+5068T>A c.253+5068T>A (n.253+5068T>A) c.296T>A (p.Val99Glu) n.284+5068T>A c.254-128T>A (n.254-128T>A) c.290T>A (p.Val97Glu) n.270+5068T>A n.250+5068T>A c.125+5068T>A c.234+5068T>A n.258+5068T>A n.754+5068T>A n.295+5068T>A | |
15 | g.72370653C>A | CA393068934 | HEXA | n.266+5067G>T c.253+5067G>T (n.253+5067G>T) c.295G>T (p.Val99Leu) n.284+5067G>T c.254-129G>T (n.254-129G>T) c.289G>T (p.Val97Leu) n.270+5067G>T n.250+5067G>T c.125+5067G>T c.234+5067G>T n.258+5067G>T n.754+5067G>T n.295+5067G>T | |
15 | g.72370653C= | CA2186756539 | HEXA | n.266+5067G= c.253+5067G= (n.253+5067G=) c.295G= (p.Val99=) n.284+5067G= c.254-129G= (n.254-129G=) c.289G= (p.Val97=) n.270+5067G= n.250+5067G= c.125+5067G= c.234+5067G= n.258+5067G= n.754+5067G= n.295+5067G= | |
15 | g.72370653C>G | CA393068936 | HEXA | n.266+5067G>C c.253+5067G>C (n.253+5067G>C) c.295G>C (p.Val99Leu) n.284+5067G>C c.254-129G>C (n.254-129G>C) c.289G>C (p.Val97Leu) n.270+5067G>C n.250+5067G>C c.125+5067G>C c.234+5067G>C n.258+5067G>C n.754+5067G>C n.295+5067G>C | |
15 | g.72370653C>T | CA272627063 | HEXA | n.266+5067G>A c.253+5067G>A (n.253+5067G>A) c.295G>A (p.Val99Met) n.284+5067G>A c.254-129G>A (n.254-129G>A) c.289G>A (p.Val97Met) n.270+5067G>A n.250+5067G>A c.125+5067G>A c.234+5067G>A n.258+5067G>A n.754+5067G>A n.295+5067G>A | dbSNP gnomAD v4 |
15 | g.72370655C>A | CA393068939 | HEXA | n.266+5065G>T c.253+5065G>T (n.253+5065G>T) c.293G>T (p.Gly98Val) n.284+5065G>T c.254-131G>T (n.254-131G>T) c.287G>T (p.Gly96Val) n.270+5065G>T n.250+5065G>T c.125+5065G>T c.234+5065G>T n.258+5065G>T n.754+5065G>T n.295+5065G>T | gnomAD v4 |
15 | g.72370655C>G | CA393068940 | HEXA | n.266+5065G>C c.253+5065G>C (n.253+5065G>C) c.293G>C (p.Gly98Ala) n.284+5065G>C c.254-131G>C (n.254-131G>C) c.287G>C (p.Gly96Ala) n.270+5065G>C n.250+5065G>C c.125+5065G>C c.234+5065G>C n.258+5065G>C n.754+5065G>C n.295+5065G>C | |
15 | g.72370655C>T | CA393068943 | HEXA | n.266+5065G>A c.253+5065G>A (n.253+5065G>A) c.293G>A (p.Gly98Asp) n.284+5065G>A c.254-131G>A (n.254-131G>A) c.287G>A (p.Gly96Asp) n.270+5065G>A n.250+5065G>A c.125+5065G>A c.234+5065G>A n.258+5065G>A n.754+5065G>A n.295+5065G>A | |
15 | g.72370656C>A | CA393068947 | HEXA | n.266+5064G>T c.253+5064G>T (n.253+5064G>T) c.292G>T (p.Gly98Cys) n.284+5064G>T c.254-132G>T (n.254-132G>T) c.286G>T (p.Gly96Cys) n.270+5064G>T n.250+5064G>T c.125+5064G>T c.234+5064G>T n.258+5064G>T n.754+5064G>T n.295+5064G>T | gnomAD v3 gnomAD v4 |
15 | g.72370656C>G | CA393068949 | HEXA | n.266+5064G>C c.253+5064G>C (n.253+5064G>C) c.292G>C (p.Gly98Arg) n.284+5064G>C c.254-132G>C (n.254-132G>C) c.286G>C (p.Gly96Arg) n.270+5064G>C n.250+5064G>C c.125+5064G>C c.234+5064G>C n.258+5064G>C n.754+5064G>C n.295+5064G>C | |
15 | g.72370656C>T | CA393068945 | HEXA | n.266+5064G>A c.253+5064G>A (n.253+5064G>A) c.292G>A (p.Gly98Ser) n.284+5064G>A c.254-132G>A (n.254-132G>A) c.286G>A (p.Gly96Ser) n.270+5064G>A n.250+5064G>A c.125+5064G>A c.234+5064G>A n.258+5064G>A n.754+5064G>A n.295+5064G>A | |
15 | g.72370657A>C | CA393068950 | HEXA | n.266+5063T>G c.253+5063T>G (n.253+5063T>G) c.291T>G (p.Ser97Arg) n.284+5063T>G c.254-133T>G (n.254-133T>G) c.285T>G (p.Ser95Arg) n.270+5063T>G n.250+5063T>G c.125+5063T>G c.234+5063T>G n.258+5063T>G n.754+5063T>G n.295+5063T>G | |
15 | g.72370657A>T | CA393068952 | HEXA | n.266+5063T>A c.253+5063T>A (n.253+5063T>A) c.291T>A (p.Ser97Arg) n.284+5063T>A c.254-133T>A (n.254-133T>A) c.285T>A (p.Ser95Arg) n.270+5063T>A n.250+5063T>A c.125+5063T>A c.234+5063T>A n.258+5063T>A n.754+5063T>A n.295+5063T>A | |
15 | g.72370658C>A | CA393068955 | HEXA | n.266+5062G>T c.253+5062G>T (n.253+5062G>T) c.290G>T (p.Ser97Ile) n.284+5062G>T c.254-134G>T (n.254-134G>T) c.284G>T (p.Ser95Ile) n.270+5062G>T n.250+5062G>T c.125+5062G>T c.234+5062G>T n.258+5062G>T n.754+5062G>T n.295+5062G>T | |
15 | g.72370658C>G | CA393068956 | HEXA | n.266+5062G>C c.253+5062G>C (n.253+5062G>C) c.290G>C (p.Ser97Thr) n.284+5062G>C c.254-134G>C (n.254-134G>C) c.284G>C (p.Ser95Thr) n.270+5062G>C n.250+5062G>C c.125+5062G>C c.234+5062G>C n.258+5062G>C n.754+5062G>C n.295+5062G>C | |
15 | g.72370658C>T | CA393068958 | HEXA | n.266+5062G>A c.253+5062G>A (n.253+5062G>A) c.290G>A (p.Ser97Asn) n.284+5062G>A c.254-134G>A (n.254-134G>A) c.284G>A (p.Ser95Asn) n.270+5062G>A n.250+5062G>A c.125+5062G>A c.234+5062G>A n.258+5062G>A n.754+5062G>A n.295+5062G>A | |
15 | g.72370659T>A | CA393068964 | HEXA | n.266+5061A>T c.253+5061A>T (n.253+5061A>T) c.289A>T (p.Ser97Cys) n.284+5061A>T c.254-135A>T (n.254-135A>T) c.283A>T (p.Ser95Cys) n.270+5061A>T n.250+5061A>T c.125+5061A>T c.234+5061A>T n.258+5061A>T n.754+5061A>T n.295+5061A>T | |
15 | g.72370659T>C | CA393068960 | HEXA | n.266+5061A>G c.253+5061A>G (n.253+5061A>G) c.289A>G (p.Ser97Gly) n.284+5061A>G c.254-135A>G (n.254-135A>G) c.283A>G (p.Ser95Gly) n.270+5061A>G n.250+5061A>G c.125+5061A>G c.234+5061A>G n.258+5061A>G n.754+5061A>G n.295+5061A>G | |
15 | g.72370659T>G | CA393068962 | HEXA | n.266+5061A>C c.253+5061A>C (n.253+5061A>C) c.289A>C (p.Ser97Arg) n.284+5061A>C c.254-135A>C (n.254-135A>C) c.283A>C (p.Ser95Arg) n.270+5061A>C n.250+5061A>C c.125+5061A>C c.234+5061A>C n.258+5061A>C n.754+5061A>C n.295+5061A>C | |
15 | g.72370660G>A | CA2629342081 | HEXA | n.266+5060C>T c.253+5060C>T (n.253+5060C>T) c.288C>T (p.Cys96=) n.284+5060C>T c.254-136C>T (n.254-136C>T) c.282C>T (p.Cys94=) n.270+5060C>T n.250+5060C>T c.125+5060C>T c.234+5060C>T n.258+5060C>T n.754+5060C>T n.295+5060C>T | gnomAD v4 |
15 | g.72370660G>C | CA393068966 | HEXA | n.266+5060C>G c.253+5060C>G (n.253+5060C>G) c.288C>G (p.Cys96Trp) n.284+5060C>G c.254-136C>G (n.254-136C>G) c.282C>G (p.Cys94Trp) n.270+5060C>G n.250+5060C>G c.125+5060C>G c.234+5060C>G n.258+5060C>G n.754+5060C>G n.295+5060C>G | |
15 | g.72370660G>T | CA393068968 | HEXA | n.266+5060C>A c.253+5060C>A (n.253+5060C>A) c.288C>A (p.Cys96Ter) n.284+5060C>A c.254-136C>A (n.254-136C>A) c.282C>A (p.Cys94Ter) n.270+5060C>A n.250+5060C>A c.125+5060C>A c.234+5060C>A n.258+5060C>A n.754+5060C>A n.295+5060C>A | |
15 | g.72370661C>A | CA393068971 | HEXA | n.266+5059G>T c.253+5059G>T (n.253+5059G>T) c.287G>T (p.Cys96Phe) n.284+5059G>T c.254-137G>T (n.254-137G>T) c.281G>T (p.Cys94Phe) n.270+5059G>T n.250+5059G>T c.125+5059G>T c.234+5059G>T n.258+5059G>T n.754+5059G>T n.295+5059G>T | |
15 | g.72370661C= | CA2186756540 | HEXA | n.266+5059G= c.253+5059G= (n.253+5059G=) c.287G= (p.Cys96=) n.284+5059G= c.254-137G= (n.254-137G=) c.281G= (p.Cys94=) n.270+5059G= n.250+5059G= c.125+5059G= c.234+5059G= n.258+5059G= n.754+5059G= n.295+5059G= | |
15 | g.72370661C>G | CA393068972 | HEXA | n.266+5059G>C c.253+5059G>C (n.253+5059G>C) c.287G>C (p.Cys96Ser) n.284+5059G>C c.254-137G>C (n.254-137G>C) c.281G>C (p.Cys94Ser) n.270+5059G>C n.250+5059G>C c.125+5059G>C c.234+5059G>C n.258+5059G>C n.754+5059G>C n.295+5059G>C | |
15 | g.72370661C>T | CA393068974 | HEXA | n.266+5059G>A c.253+5059G>A (n.253+5059G>A) c.287G>A (p.Cys96Tyr) n.284+5059G>A c.254-137G>A (n.254-137G>A) c.281G>A (p.Cys94Tyr) n.270+5059G>A n.250+5059G>A c.125+5059G>A c.234+5059G>A n.258+5059G>A n.754+5059G>A n.295+5059G>A | dbSNP |
15 | g.72370662A= | CA2186756541 | HEXA | n.266+5058T= c.253+5058T= (n.253+5058T=) c.286T= (p.Cys96=) n.284+5058T= c.254-138T= (n.254-138T=) c.280T= (p.Cys94=) n.270+5058T= n.250+5058T= c.125+5058T= c.234+5058T= n.258+5058T= n.754+5058T= n.295+5058T= | |
15 | g.72370662A>C | CA272627074 | HEXA | n.266+5058T>G c.253+5058T>G (n.253+5058T>G) c.286T>G (p.Cys96Gly) n.284+5058T>G c.254-138T>G (n.254-138T>G) c.280T>G (p.Cys94Gly) n.270+5058T>G n.250+5058T>G c.125+5058T>G c.234+5058T>G n.258+5058T>G n.754+5058T>G n.295+5058T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370662A>G | CA393068979 | HEXA | n.266+5058T>C c.253+5058T>C (n.253+5058T>C) c.286T>C (p.Cys96Arg) n.284+5058T>C c.254-138T>C (n.254-138T>C) c.280T>C (p.Cys94Arg) n.270+5058T>C n.250+5058T>C c.125+5058T>C c.234+5058T>C n.258+5058T>C n.754+5058T>C n.295+5058T>C | |
15 | g.72370662A>T | CA393068977 | HEXA | n.266+5058T>A c.253+5058T>A (n.253+5058T>A) c.286T>A (p.Cys96Ser) n.284+5058T>A c.254-138T>A (n.254-138T>A) c.280T>A (p.Cys94Ser) n.270+5058T>A n.250+5058T>A c.125+5058T>A c.234+5058T>A n.258+5058T>A n.754+5058T>A n.295+5058T>A | |
15 | g.72370663C>A | CA393068980 | HEXA | n.266+5057G>T c.253+5057G>T (n.253+5057G>T) c.285G>T (p.Glu95Asp) n.284+5057G>T c.254-139G>T (n.254-139G>T) c.279G>T (p.Glu93Asp) n.270+5057G>T n.250+5057G>T c.125+5057G>T c.234+5057G>T n.258+5057G>T n.754+5057G>T n.295+5057G>T | gnomAD v4 |
15 | g.72370663C>G | CA393068982 | HEXA | n.266+5057G>C c.253+5057G>C (n.253+5057G>C) c.285G>C (p.Glu95Asp) n.284+5057G>C c.254-139G>C (n.254-139G>C) c.279G>C (p.Glu93Asp) n.270+5057G>C n.250+5057G>C c.125+5057G>C c.234+5057G>C n.258+5057G>C n.754+5057G>C n.295+5057G>C | |
15 | g.72370664T>A | CA393068985 | HEXA | n.266+5056A>T c.253+5056A>T (n.253+5056A>T) c.284A>T (p.Glu95Val) n.284+5056A>T c.254-140A>T (n.254-140A>T) c.278A>T (p.Glu93Val) n.270+5056A>T n.250+5056A>T c.125+5056A>T c.234+5056A>T n.258+5056A>T n.754+5056A>T n.295+5056A>T | |
15 | g.72370664T>C | CA393068986 | HEXA | n.266+5056A>G c.253+5056A>G (n.253+5056A>G) c.284A>G (p.Glu95Gly) n.284+5056A>G c.254-140A>G (n.254-140A>G) c.278A>G (p.Glu93Gly) n.270+5056A>G n.250+5056A>G c.125+5056A>G c.234+5056A>G n.258+5056A>G n.754+5056A>G n.295+5056A>G | gnomAD v4 |
15 | g.72370664T>G | CA393068989 | HEXA | n.266+5056A>C c.253+5056A>C (n.253+5056A>C) c.284A>C (p.Glu95Ala) n.284+5056A>C c.254-140A>C (n.254-140A>C) c.278A>C (p.Glu93Ala) n.270+5056A>C n.250+5056A>C c.125+5056A>C c.234+5056A>C n.258+5056A>C n.754+5056A>C n.295+5056A>C | |
15 | g.72370665C>A | CA393068990 | HEXA | n.266+5055G>T c.253+5055G>T (n.253+5055G>T) c.283G>T (p.Glu95Ter) n.284+5055G>T c.254-141G>T (n.254-141G>T) c.277G>T (p.Glu93Ter) n.270+5055G>T n.250+5055G>T c.125+5055G>T c.234+5055G>T n.258+5055G>T n.754+5055G>T n.295+5055G>T | |
15 | g.72370665C>G | CA393068991 | HEXA | n.266+5055G>C c.253+5055G>C (n.253+5055G>C) c.283G>C (p.Glu95Gln) n.284+5055G>C c.254-141G>C (n.254-141G>C) c.277G>C (p.Glu93Gln) n.270+5055G>C n.250+5055G>C c.125+5055G>C c.234+5055G>C n.258+5055G>C n.754+5055G>C n.295+5055G>C | |
15 | g.72370665C>T | CA393068993 | HEXA | n.266+5055G>A c.253+5055G>A (n.253+5055G>A) c.283G>A (p.Glu95Lys) n.284+5055G>A c.254-141G>A (n.254-141G>A) c.277G>A (p.Glu93Lys) n.270+5055G>A n.250+5055G>A c.125+5055G>A c.234+5055G>A n.258+5055G>A n.754+5055G>A n.295+5055G>A | gnomAD v4 |
15 | g.72370667A>C | CA393068995 | HEXA | n.266+5053T>G c.253+5053T>G (n.253+5053T>G) c.281T>G (p.Leu94Arg) n.284+5053T>G c.254-143T>G (n.254-143T>G) c.275T>G (p.Leu92Arg) n.270+5053T>G n.250+5053T>G c.125+5053T>G c.234+5053T>G n.258+5053T>G n.754+5053T>G n.295+5053T>G | |
15 | g.72370667A>G | CA393068997 | HEXA | n.266+5053T>C c.253+5053T>C (n.253+5053T>C) c.281T>C (p.Leu94Pro) n.284+5053T>C c.254-143T>C (n.254-143T>C) c.275T>C (p.Leu92Pro) n.270+5053T>C n.250+5053T>C c.125+5053T>C c.234+5053T>C n.258+5053T>C n.754+5053T>C n.295+5053T>C | |
15 | g.72370667A>T | CA393068999 | HEXA | n.266+5053T>A c.253+5053T>A (n.253+5053T>A) c.281T>A (p.Leu94Gln) n.284+5053T>A c.254-143T>A (n.254-143T>A) c.275T>A (p.Leu92Gln) n.270+5053T>A n.250+5053T>A c.125+5053T>A c.234+5053T>A n.258+5053T>A n.754+5053T>A n.295+5053T>A | |
15 | g.72370668G>A | CA2629342092 | HEXA | n.266+5052C>T c.253+5052C>T (n.253+5052C>T) c.280C>T (p.Leu94=) n.284+5052C>T c.254-144C>T (n.254-144C>T) c.274C>T (p.Leu92=) n.270+5052C>T n.250+5052C>T c.125+5052C>T c.234+5052C>T n.258+5052C>T n.754+5052C>T n.295+5052C>T | gnomAD v4 |
15 | g.72370668G>C | CA393069001 | HEXA | n.266+5052C>G c.253+5052C>G (n.253+5052C>G) c.280C>G (p.Leu94Val) n.284+5052C>G c.254-144C>G (n.254-144C>G) c.274C>G (p.Leu92Val) n.270+5052C>G n.250+5052C>G c.125+5052C>G c.234+5052C>G n.258+5052C>G n.754+5052C>G n.295+5052C>G | |
15 | g.72370668G>T | CA393069003 | HEXA | n.266+5052C>A c.253+5052C>A (n.253+5052C>A) c.280C>A (p.Leu94Met) n.284+5052C>A c.254-144C>A (n.254-144C>A) c.274C>A (p.Leu92Met) n.270+5052C>A n.250+5052C>A c.125+5052C>A c.234+5052C>A n.258+5052C>A n.754+5052C>A n.295+5052C>A | gnomAD v4 |
15 | g.72370669T>A | CA393069005 | HEXA | n.266+5051A>T c.253+5051A>T (n.253+5051A>T) c.279A>T (p.Arg93Ser) n.284+5051A>T c.254-145A>T (n.254-145A>T) c.273A>T (p.Arg91Ser) n.270+5051A>T n.250+5051A>T c.125+5051A>T c.234+5051A>T n.258+5051A>T n.754+5051A>T n.295+5051A>T | |
15 | g.72370669T>C | CA971336646 | HEXA | n.266+5051A>G c.253+5051A>G (n.253+5051A>G) c.279A>G (p.Arg93=) n.284+5051A>G c.254-145A>G (n.254-145A>G) c.273A>G (p.Arg91=) n.270+5051A>G n.250+5051A>G c.125+5051A>G c.234+5051A>G n.258+5051A>G n.754+5051A>G n.295+5051A>G | gnomAD v3 gnomAD v4 |
15 | g.72370669T>G | CA393069007 | HEXA | n.266+5051A>C c.253+5051A>C (n.253+5051A>C) c.279A>C (p.Arg93Ser) n.284+5051A>C c.254-145A>C (n.254-145A>C) c.273A>C (p.Arg91Ser) n.270+5051A>C n.250+5051A>C c.125+5051A>C c.234+5051A>C n.258+5051A>C n.754+5051A>C n.295+5051A>C | |
15 | g.72370670C>A | CA393069009 | HEXA | n.266+5050G>T c.253+5050G>T (n.253+5050G>T) c.278G>T (p.Arg93Ile) n.284+5050G>T c.254-146G>T (n.254-146G>T) c.272G>T (p.Arg91Ile) n.270+5050G>T n.250+5050G>T c.125+5050G>T c.234+5050G>T n.258+5050G>T n.754+5050G>T n.295+5050G>T | gnomAD v4 |
15 | g.72370670C>G | CA393069013 | HEXA | n.266+5050G>C c.253+5050G>C (n.253+5050G>C) c.278G>C (p.Arg93Thr) n.284+5050G>C c.254-146G>C (n.254-146G>C) c.272G>C (p.Arg91Thr) n.270+5050G>C n.250+5050G>C c.125+5050G>C c.234+5050G>C n.258+5050G>C n.754+5050G>C n.295+5050G>C | |
15 | g.72370670C>T | CA393069010 | HEXA | n.266+5050G>A c.253+5050G>A (n.253+5050G>A) c.278G>A (p.Arg93Lys) n.284+5050G>A c.254-146G>A (n.254-146G>A) c.272G>A (p.Arg91Lys) n.270+5050G>A n.250+5050G>A c.125+5050G>A c.234+5050G>A n.258+5050G>A n.754+5050G>A n.295+5050G>A | |
15 | g.72370671T>A | CA393069015 | HEXA | n.266+5049A>T c.253+5049A>T (n.253+5049A>T) c.277A>T (p.Arg93Ter) n.284+5049A>T c.254-147A>T (n.254-147A>T) c.271A>T (p.Arg91Ter) n.270+5049A>T n.250+5049A>T c.125+5049A>T c.234+5049A>T n.258+5049A>T n.754+5049A>T n.295+5049A>T | |
15 | g.72370671T>C | CA393069016 | HEXA | n.266+5049A>G c.253+5049A>G (n.253+5049A>G) c.277A>G (p.Arg93Gly) n.284+5049A>G c.254-147A>G (n.254-147A>G) c.271A>G (p.Arg91Gly) n.270+5049A>G n.250+5049A>G c.125+5049A>G c.234+5049A>G n.258+5049A>G n.754+5049A>G n.295+5049A>G | |
15 | g.72370672G>C | CA393069019 | HEXA | n.266+5048C>G c.253+5048C>G (n.253+5048C>G) c.276C>G (p.Phe92Leu) n.284+5048C>G c.254-148C>G (n.254-148C>G) c.270C>G (p.Phe90Leu) n.270+5048C>G n.250+5048C>G c.125+5048C>G c.234+5048C>G n.258+5048C>G n.754+5048C>G n.295+5048C>G | |
15 | g.72370672G>T | CA393069021 | HEXA | n.266+5048C>A c.253+5048C>A (n.253+5048C>A) c.276C>A (p.Phe92Leu) n.284+5048C>A c.254-148C>A (n.254-148C>A) c.270C>A (p.Phe90Leu) n.270+5048C>A n.250+5048C>A c.125+5048C>A c.234+5048C>A n.258+5048C>A n.754+5048C>A n.295+5048C>A | |
15 | g.72370673A>C | CA393069023 | HEXA | n.266+5047T>G c.253+5047T>G (n.253+5047T>G) c.275T>G (p.Phe92Cys) n.284+5047T>G c.254-149T>G (n.254-149T>G) c.269T>G (p.Phe90Cys) n.270+5047T>G n.250+5047T>G c.125+5047T>G c.234+5047T>G n.258+5047T>G n.754+5047T>G n.295+5047T>G | |
15 | g.72370673A>G | CA393069025 | HEXA | n.266+5047T>C c.253+5047T>C (n.253+5047T>C) c.275T>C (p.Phe92Ser) n.284+5047T>C c.254-149T>C (n.254-149T>C) c.269T>C (p.Phe90Ser) n.270+5047T>C n.250+5047T>C c.125+5047T>C c.234+5047T>C n.258+5047T>C n.754+5047T>C n.295+5047T>C | |
15 | g.72370673A>T | CA393069026 | HEXA | n.266+5047T>A c.253+5047T>A (n.253+5047T>A) c.275T>A (p.Phe92Tyr) n.284+5047T>A c.254-149T>A (n.254-149T>A) c.269T>A (p.Phe90Tyr) n.270+5047T>A n.250+5047T>A c.125+5047T>A c.234+5047T>A n.258+5047T>A n.754+5047T>A n.295+5047T>A | |
15 | g.72370674A>C | CA393069029 | HEXA | n.266+5046T>G c.253+5046T>G (n.253+5046T>G) c.274T>G (p.Phe92Val) n.284+5046T>G c.254-150T>G (n.254-150T>G) c.268T>G (p.Phe90Val) n.270+5046T>G n.250+5046T>G c.125+5046T>G c.234+5046T>G n.258+5046T>G n.754+5046T>G n.295+5046T>G | |
15 | g.72370674A>G | CA393069031 | HEXA | n.266+5046T>C c.253+5046T>C (n.253+5046T>C) c.274T>C (p.Phe92Leu) n.284+5046T>C c.254-150T>C (n.254-150T>C) c.268T>C (p.Phe90Leu) n.270+5046T>C n.250+5046T>C c.125+5046T>C c.234+5046T>C n.258+5046T>C n.754+5046T>C n.295+5046T>C | |
15 | g.72370674A>T | CA393069032 | HEXA | n.266+5046T>A c.253+5046T>A (n.253+5046T>A) c.274T>A (p.Phe92Ile) n.284+5046T>A c.254-150T>A (n.254-150T>A) c.268T>A (p.Phe90Ile) n.270+5046T>A n.250+5046T>A c.125+5046T>A c.234+5046T>A n.258+5046T>A n.754+5046T>A n.295+5046T>A | |
15 | g.72370675T>A | CA971336647 | HEXA | n.266+5045A>T c.253+5045A>T (n.253+5045A>T) c.273A>T (p.Ser91=) n.284+5045A>T c.254-151A>T (n.254-151A>T) c.267A>T (p.Ser89=) n.270+5045A>T n.250+5045A>T c.125+5045A>T c.234+5045A>T n.258+5045A>T n.754+5045A>T n.295+5045A>T | gnomAD v3 gnomAD v4 |
15 | g.72370675T>C | CA2186756543 | HEXA | n.266+5045A>G c.253+5045A>G (n.253+5045A>G) c.273A>G (p.Ser91=) n.284+5045A>G c.254-151A>G (n.254-151A>G) c.267A>G (p.Ser89=) n.270+5045A>G n.250+5045A>G c.125+5045A>G c.234+5045A>G n.258+5045A>G n.754+5045A>G n.295+5045A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370675T= | CA2186756542 | HEXA | n.266+5045A= c.253+5045A= (n.253+5045A=) c.273A= (p.Ser91=) n.284+5045A= c.254-151A= (n.254-151A=) c.267A= (p.Ser89=) n.270+5045A= n.250+5045A= c.125+5045A= c.234+5045A= n.258+5045A= n.754+5045A= n.295+5045A= | |
15 | g.72370676G>A | CA272627077 | HEXA | n.266+5044C>T c.253+5044C>T (n.253+5044C>T) c.272C>T (p.Ser91Leu) n.284+5044C>T c.254-152C>T (n.254-152C>T) c.266C>T (p.Ser89Leu) n.270+5044C>T n.250+5044C>T c.125+5044C>T c.234+5044C>T n.258+5044C>T n.754+5044C>T n.295+5044C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370676G>C | CA393069035 | HEXA | n.266+5044C>G c.253+5044C>G (n.253+5044C>G) c.272C>G (p.Ser91Ter) n.284+5044C>G c.254-152C>G (n.254-152C>G) c.266C>G (p.Ser89Ter) n.270+5044C>G n.250+5044C>G c.125+5044C>G c.234+5044C>G n.258+5044C>G n.754+5044C>G n.295+5044C>G | |
15 | g.72370676G= | CA2186756544 | HEXA | n.266+5044C= c.253+5044C= (n.253+5044C=) c.272C= (p.Ser91=) n.284+5044C= c.254-152C= (n.254-152C=) c.266C= (p.Ser89=) n.270+5044C= n.250+5044C= c.125+5044C= c.234+5044C= n.258+5044C= n.754+5044C= n.295+5044C= | |
15 | g.72370676G>T | CA393069034 | HEXA | n.266+5044C>A c.253+5044C>A (n.253+5044C>A) c.272C>A (p.Ser91Ter) n.284+5044C>A c.254-152C>A (n.254-152C>A) c.266C>A (p.Ser89Ter) n.270+5044C>A n.250+5044C>A c.125+5044C>A c.234+5044C>A n.258+5044C>A n.754+5044C>A n.295+5044C>A | gnomAD v4 |
15 | g.72370677A>C | CA393069038 | HEXA | n.266+5043T>G c.253+5043T>G (n.253+5043T>G) c.271T>G (p.Ser91Ala) n.284+5043T>G c.254-153T>G (n.254-153T>G) c.265T>G (p.Ser89Ala) n.270+5043T>G n.250+5043T>G c.125+5043T>G c.234+5043T>G n.258+5043T>G n.754+5043T>G n.295+5043T>G | |
15 | g.72370677A>G | CA393069040 | HEXA | n.266+5043T>C c.253+5043T>C (n.253+5043T>C) c.271T>C (p.Ser91Pro) n.284+5043T>C c.254-153T>C (n.254-153T>C) c.265T>C (p.Ser89Pro) n.270+5043T>C n.250+5043T>C c.125+5043T>C c.234+5043T>C n.258+5043T>C n.754+5043T>C n.295+5043T>C | |
15 | g.72370677A>T | CA393069041 | HEXA | n.266+5043T>A c.253+5043T>A (n.253+5043T>A) c.271T>A (p.Ser91Thr) n.284+5043T>A c.254-153T>A (n.254-153T>A) c.265T>A (p.Ser89Thr) n.270+5043T>A n.250+5043T>A c.125+5043T>A c.234+5043T>A n.258+5043T>A n.754+5043T>A n.295+5043T>A | |
15 | g.72370678C>A | CA971336651 | HEXA | n.266+5042G>T c.253+5042G>T (n.253+5042G>T) c.270G>T (p.Leu90=) n.284+5042G>T c.254-154G>T (n.254-154G>T) c.264G>T (p.Leu88=) n.270+5042G>T n.250+5042G>T c.125+5042G>T c.234+5042G>T n.258+5042G>T n.754+5042G>T n.295+5042G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370678C= | CA2186756545 | HEXA | n.266+5042G= c.253+5042G= (n.253+5042G=) c.270G= (p.Leu90=) n.284+5042G= c.254-154G= (n.254-154G=) c.264G= (p.Leu88=) n.270+5042G= n.250+5042G= c.125+5042G= c.234+5042G= n.258+5042G= n.754+5042G= n.295+5042G= | |
15 | g.72370678C>G | CA618769302 | HEXA | n.266+5042G>C c.253+5042G>C (n.253+5042G>C) c.270G>C (p.Leu90=) n.284+5042G>C c.254-154G>C (n.254-154G>C) c.264G>C (p.Leu88=) n.270+5042G>C n.250+5042G>C c.125+5042G>C c.234+5042G>C n.258+5042G>C n.754+5042G>C n.295+5042G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370679A>C | CA393069043 | HEXA | n.266+5041T>G c.253+5041T>G (n.253+5041T>G) c.269T>G (p.Leu90Arg) n.284+5041T>G c.254-155T>G (n.254-155T>G) c.263T>G (p.Leu88Arg) n.270+5041T>G n.250+5041T>G c.125+5041T>G c.234+5041T>G n.258+5041T>G n.754+5041T>G n.295+5041T>G | |
15 | g.72370679A>G | CA393069045 | HEXA | n.266+5041T>C c.253+5041T>C (n.253+5041T>C) c.269T>C (p.Leu90Pro) n.284+5041T>C c.254-155T>C (n.254-155T>C) c.263T>C (p.Leu88Pro) n.270+5041T>C n.250+5041T>C c.125+5041T>C c.234+5041T>C n.258+5041T>C n.754+5041T>C n.295+5041T>C | |
15 | g.72370679A>T | CA393069047 | HEXA | n.266+5041T>A c.253+5041T>A (n.253+5041T>A) c.269T>A (p.Leu90Gln) n.284+5041T>A c.254-155T>A (n.254-155T>A) c.263T>A (p.Leu88Gln) n.270+5041T>A n.250+5041T>A c.125+5041T>A c.234+5041T>A n.258+5041T>A n.754+5041T>A n.295+5041T>A | |
15 | g.72370680G>A | CA971336653 | HEXA | n.266+5040C>T c.253+5040C>T (n.253+5040C>T) c.268C>T (p.Leu90=) n.284+5040C>T c.254-156C>T (n.254-156C>T) c.262C>T (p.Leu88=) n.270+5040C>T n.250+5040C>T c.125+5040C>T c.234+5040C>T n.258+5040C>T n.754+5040C>T n.295+5040C>T | gnomAD v3 gnomAD v4 |
15 | g.72370680G>C | CA393069051 | HEXA | n.266+5040C>G c.253+5040C>G (n.253+5040C>G) c.268C>G (p.Leu90Val) n.284+5040C>G c.254-156C>G (n.254-156C>G) c.262C>G (p.Leu88Val) n.270+5040C>G n.250+5040C>G c.125+5040C>G c.234+5040C>G n.258+5040C>G n.754+5040C>G n.295+5040C>G | |
15 | g.72370680G>T | CA393069049 | HEXA | n.266+5040C>A c.253+5040C>A (n.253+5040C>A) c.268C>A (p.Leu90Met) n.284+5040C>A c.254-156C>A (n.254-156C>A) c.262C>A (p.Leu88Met) n.270+5040C>A n.250+5040C>A c.125+5040C>A c.234+5040C>A n.258+5040C>A n.754+5040C>A n.295+5040C>A | |
15 | g.72370681A>G | CA2804697582 | HEXA | n.266+5039T>C c.253+5039T>C (n.253+5039T>C) c.267T>C (p.Ser89=) n.284+5039T>C c.254-157T>C (n.254-157T>C) c.261T>C (p.Ser87=) n.270+5039T>C n.250+5039T>C c.125+5039T>C c.234+5039T>C n.258+5039T>C n.754+5039T>C n.295+5039T>C | |
15 | g.72370682G>A | CA393069053 | HEXA | n.266+5038C>T c.253+5038C>T (n.253+5038C>T) c.266C>T (p.Ser89Phe) n.284+5038C>T c.254-158C>T (n.254-158C>T) c.260C>T (p.Ser87Phe) n.270+5038C>T n.250+5038C>T c.125+5038C>T c.234+5038C>T n.258+5038C>T n.754+5038C>T n.295+5038C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370682G>C | CA393069055 | HEXA | n.266+5038C>G c.253+5038C>G (n.253+5038C>G) c.266C>G (p.Ser89Cys) n.284+5038C>G c.254-158C>G (n.254-158C>G) c.260C>G (p.Ser87Cys) n.270+5038C>G n.250+5038C>G c.125+5038C>G c.234+5038C>G n.258+5038C>G n.754+5038C>G n.295+5038C>G | |
15 | g.72370682G= | CA2186756546 | HEXA | n.266+5038C= c.253+5038C= (n.253+5038C=) c.266C= (p.Ser89=) n.284+5038C= c.254-158C= (n.254-158C=) c.260C= (p.Ser87=) n.270+5038C= n.250+5038C= c.125+5038C= c.234+5038C= n.258+5038C= n.754+5038C= n.295+5038C= | |
15 | g.72370682G>T | CA393069057 | HEXA | n.266+5038C>A c.253+5038C>A (n.253+5038C>A) c.266C>A (p.Ser89Tyr) n.284+5038C>A c.254-158C>A (n.254-158C>A) c.260C>A (p.Ser87Tyr) n.270+5038C>A n.250+5038C>A c.125+5038C>A c.234+5038C>A n.258+5038C>A n.754+5038C>A n.295+5038C>A | |
15 | g.72370683A>C | CA393069059 | HEXA | n.266+5037T>G c.253+5037T>G (n.253+5037T>G) c.265T>G (p.Ser89Ala) n.284+5037T>G c.254-159T>G (n.254-159T>G) c.259T>G (p.Ser87Ala) n.270+5037T>G n.250+5037T>G c.125+5037T>G c.234+5037T>G n.258+5037T>G n.754+5037T>G n.295+5037T>G | |
15 | g.72370683A>G | CA393069061 | HEXA | n.266+5037T>C c.253+5037T>C (n.253+5037T>C) c.265T>C (p.Ser89Pro) n.284+5037T>C c.254-159T>C (n.254-159T>C) c.259T>C (p.Ser87Pro) n.270+5037T>C n.250+5037T>C c.125+5037T>C c.234+5037T>C n.258+5037T>C n.754+5037T>C n.295+5037T>C | |
15 | g.72370683A>T | CA393069063 | HEXA | n.266+5037T>A c.253+5037T>A (n.253+5037T>A) c.265T>A (p.Ser89Thr) n.284+5037T>A c.254-159T>A (n.254-159T>A) c.259T>A (p.Ser87Thr) n.270+5037T>A n.250+5037T>A c.125+5037T>A c.234+5037T>A n.258+5037T>A n.754+5037T>A n.295+5037T>A | |
15 | g.72370685A>C | CA393069065 | HEXA | n.266+5035T>G c.253+5035T>G (n.253+5035T>G) c.263T>G (p.Leu88Arg) n.284+5035T>G c.254-161T>G (n.254-161T>G) c.257T>G (p.Leu86Arg) n.270+5035T>G n.250+5035T>G c.125+5035T>G c.234+5035T>G n.258+5035T>G n.754+5035T>G n.295+5035T>G | |
15 | g.72370685A>G | CA393069069 | HEXA | n.266+5035T>C c.253+5035T>C (n.253+5035T>C) c.263T>C (p.Leu88Pro) n.284+5035T>C c.254-161T>C (n.254-161T>C) c.257T>C (p.Leu86Pro) n.270+5035T>C n.250+5035T>C c.125+5035T>C c.234+5035T>C n.258+5035T>C n.754+5035T>C n.295+5035T>C | |
15 | g.72370685A>T | CA393069067 | HEXA | n.266+5035T>A c.253+5035T>A (n.253+5035T>A) c.263T>A (p.Leu88His) n.284+5035T>A c.254-161T>A (n.254-161T>A) c.257T>A (p.Leu86His) n.270+5035T>A n.250+5035T>A c.125+5035T>A c.234+5035T>A n.258+5035T>A n.754+5035T>A n.295+5035T>A | |
15 | g.72370686G>A | CA393069071 | HEXA | n.266+5034C>T c.253+5034C>T (n.253+5034C>T) c.262C>T (p.Leu88Phe) n.284+5034C>T c.254-162C>T (n.254-162C>T) c.256C>T (p.Leu86Phe) n.270+5034C>T n.250+5034C>T c.125+5034C>T c.234+5034C>T n.258+5034C>T n.754+5034C>T n.295+5034C>T | gnomAD v3 gnomAD v4 |
15 | g.72370686G>C | CA393069073 | HEXA | n.266+5034C>G c.253+5034C>G (n.253+5034C>G) c.262C>G (p.Leu88Val) n.284+5034C>G c.254-162C>G (n.254-162C>G) c.256C>G (p.Leu86Val) n.270+5034C>G n.250+5034C>G c.125+5034C>G c.234+5034C>G n.258+5034C>G n.754+5034C>G n.295+5034C>G | gnomAD v4 |
15 | g.72370686G>T | CA393069075 | HEXA | n.266+5034C>A c.253+5034C>A (n.253+5034C>A) c.262C>A (p.Leu88Ile) n.284+5034C>A c.254-162C>A (n.254-162C>A) c.256C>A (p.Leu86Ile) n.270+5034C>A n.250+5034C>A c.125+5034C>A c.234+5034C>A n.258+5034C>A n.754+5034C>A n.295+5034C>A | gnomAD v4 |
15 | g.72370688C>A | CA393069077 | HEXA | n.266+5032G>T c.253+5032G>T (n.253+5032G>T) c.260G>T (p.Gly87Val) n.284+5032G>T c.254-164G>T (n.254-164G>T) c.254G>T (p.Gly85Val) n.270+5032G>T n.250+5032G>T c.125+5032G>T c.234+5032G>T n.258+5032G>T n.754+5032G>T n.295+5032G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370688C= | CA2186756547 | HEXA | n.266+5032G= c.253+5032G= (n.253+5032G=) c.260G= (p.Gly87=) n.284+5032G= c.254-164G= (n.254-164G=) c.254G= (p.Gly85=) n.270+5032G= n.250+5032G= c.125+5032G= c.234+5032G= n.258+5032G= n.754+5032G= n.295+5032G= | |
15 | g.72370688C>G | CA393069079 | HEXA | n.266+5032G>C c.253+5032G>C (n.253+5032G>C) c.260G>C (p.Gly87Ala) n.284+5032G>C c.254-164G>C (n.254-164G>C) c.254G>C (p.Gly85Ala) n.270+5032G>C n.250+5032G>C c.125+5032G>C c.234+5032G>C n.258+5032G>C n.754+5032G>C n.295+5032G>C | |
15 | g.72370688C>T | CA393069081 | HEXA | n.266+5032G>A c.253+5032G>A (n.253+5032G>A) c.260G>A (p.Gly87Asp) n.284+5032G>A c.254-164G>A (n.254-164G>A) c.254G>A (p.Gly85Asp) n.270+5032G>A n.250+5032G>A c.125+5032G>A c.234+5032G>A n.258+5032G>A n.754+5032G>A n.295+5032G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370689C>A | CA393069083 | HEXA | n.266+5031G>T c.253+5031G>T (n.253+5031G>T) c.259G>T (p.Gly87Cys) n.284+5031G>T c.254-165G>T (n.254-165G>T) c.254-1G>T (n.254-1G>T) n.270+5031G>T n.250+5031G>T c.125+5031G>T c.234+5031G>T n.258+5031G>T n.754+5031G>T n.295+5031G>T | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370689C>G | CA393069085 | HEXA | n.266+5031G>C c.253+5031G>C (n.253+5031G>C) c.259G>C (p.Gly87Arg) n.284+5031G>C c.254-165G>C (n.254-165G>C) c.254-1G>C (n.254-1G>C) n.270+5031G>C n.250+5031G>C c.125+5031G>C c.234+5031G>C n.258+5031G>C n.754+5031G>C n.295+5031G>C | |
15 | g.72370689C>T | CA393069087 | HEXA | n.266+5031G>A c.253+5031G>A (n.253+5031G>A) c.259G>A (p.Gly87Ser) n.284+5031G>A c.254-165G>A (n.254-165G>A) c.254-1G>A (n.254-1G>A) n.270+5031G>A n.250+5031G>A c.125+5031G>A c.234+5031G>A n.258+5031G>A n.754+5031G>A n.295+5031G>A | |
15 | g.72370690del | CA2731032942 | HEXA | n.266+5030del c.253+5030del (n.253+5030del) c.258del (p.Gly87ValfsTer13) n.284+5030del c.254-166del (n.254-166del) c.254-2del (n.254-2del) n.270+5030del n.250+5030del c.125+5030del c.234+5030del n.258+5030del n.754+5030del n.295+5030del | dbSNP |
15 | g.72370690T>A | CA393069090 | HEXA | n.266+5030A>T c.253+5030A>T (n.253+5030A>T) c.258A>T (p.Thr86=) n.284+5030A>T c.254-166A>T (n.254-166A>T) c.254-2A>T (n.254-2A>T) n.270+5030A>T n.250+5030A>T c.125+5030A>T c.234+5030A>T n.258+5030A>T n.754+5030A>T n.295+5030A>T | |
15 | g.72370690T>C | CA393069091 | HEXA | n.266+5030A>G c.253+5030A>G (n.253+5030A>G) c.258A>G (p.Thr86=) n.284+5030A>G c.254-166A>G (n.254-166A>G) c.254-2A>G (n.254-2A>G) n.270+5030A>G n.250+5030A>G c.125+5030A>G c.234+5030A>G n.258+5030A>G n.754+5030A>G n.295+5030A>G | |
15 | g.72370690T>G | CA393069092 | HEXA | n.266+5030A>C c.253+5030A>C (n.253+5030A>C) c.258A>C (p.Thr86=) n.284+5030A>C c.254-166A>C (n.254-166A>C) c.254-2A>C (n.254-2A>C) n.270+5030A>C n.250+5030A>C c.125+5030A>C c.234+5030A>C n.258+5030A>C n.754+5030A>C n.295+5030A>C | gnomAD v3 gnomAD v4 |
15 | g.72370691G>C | CA2730945523 | HEXA | n.266+5029C>G c.253+5029C>G (n.253+5029C>G) c.257C>G (p.Thr86Arg) n.284+5029C>G c.254-167C>G (n.254-167C>G) c.254-3C>G (n.254-3C>G) n.270+5029C>G n.250+5029C>G c.125+5029C>G c.234+5029C>G n.258+5029C>G n.754+5029C>G n.295+5029C>G | dbSNP |
15 | g.72370691G= | CA2186756548 | HEXA | n.266+5029C= c.253+5029C= (n.253+5029C=) c.257C= (p.Thr86=) n.284+5029C= c.254-167C= (n.254-167C=) c.254-3C= (n.254-3C=) n.270+5029C= n.250+5029C= c.125+5029C= c.234+5029C= n.258+5029C= n.754+5029C= n.295+5029C= | |
15 | g.72370691G>T | CA715476731 | HEXA | n.266+5029C>A c.253+5029C>A (n.253+5029C>A) c.257C>A (p.Thr86Lys) n.284+5029C>A c.254-167C>A (n.254-167C>A) c.254-3C>A (n.254-3C>A) n.270+5029C>A n.250+5029C>A c.125+5029C>A c.234+5029C>A n.258+5029C>A n.754+5029C>A n.295+5029C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370692T>A | CA618769303 | HEXA | n.266+5028A>T c.253+5028A>T (n.253+5028A>T) c.256A>T (p.Thr86Ser) n.284+5028A>T c.254-168A>T (n.254-168A>T) c.254-4A>T (n.254-4A>T) n.270+5028A>T n.250+5028A>T c.125+5028A>T c.234+5028A>T n.258+5028A>T n.754+5028A>T n.295+5028A>T | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370692T>G | CA2186756550 | HEXA | n.266+5028A>C c.253+5028A>C (n.253+5028A>C) c.256A>C (p.Thr86Pro) n.284+5028A>C c.254-168A>C (n.254-168A>C) c.254-4A>C (n.254-4A>C) n.270+5028A>C n.250+5028A>C c.125+5028A>C c.234+5028A>C n.258+5028A>C n.754+5028A>C n.295+5028A>C | dbSNP |
15 | g.72370692T= | CA2186756549 | HEXA | n.266+5028A= c.253+5028A= (n.253+5028A=) c.256A= (p.Thr86=) n.284+5028A= c.254-168A= (n.254-168A=) c.254-4A= (n.254-4A=) n.270+5028A= n.250+5028A= c.125+5028A= c.234+5028A= n.258+5028A= n.754+5028A= n.295+5028A= | |
15 | g.72370693T>A | CA971336664 | HEXA | n.266+5027A>T c.253+5027A>T (n.253+5027A>T) c.255A>T (p.Glu85Asp) n.284+5027A>T c.254-169A>T (n.254-169A>T) c.254-5A>T (n.254-5A>T) n.270+5027A>T n.250+5027A>T c.125+5027A>T c.234+5027A>T n.258+5027A>T n.754+5027A>T n.295+5027A>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370693T>G | CA971336665 | HEXA | n.266+5027A>C c.253+5027A>C (n.253+5027A>C) c.255A>C (p.Glu85Asp) n.284+5027A>C c.254-169A>C (n.254-169A>C) c.254-5A>C (n.254-5A>C) n.270+5027A>C n.250+5027A>C c.125+5027A>C c.234+5027A>C n.258+5027A>C n.754+5027A>C n.295+5027A>C | gnomAD v3 gnomAD v4 |
15 | g.72370695C>A | CA971336666 | HEXA | n.266+5025G>T c.253+5025G>T (n.253+5025G>T) c.254-1G>T (n.254-1G>T) n.284+5025G>T c.254-171G>T (n.254-171G>T) c.254-7G>T (n.254-7G>T) n.270+5025G>T n.250+5025G>T c.125+5025G>T c.234+5025G>T n.258+5025G>T n.754+5025G>T n.295+5025G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370695C= | CA2186756551 | HEXA | n.266+5025G= c.253+5025G= (n.253+5025G=) c.254-1G= (n.254-1G=) n.284+5025G= c.254-171G= (n.254-171G=) c.254-7G= (n.254-7G=) n.270+5025G= n.250+5025G= c.125+5025G= c.234+5025G= n.258+5025G= n.754+5025G= n.295+5025G= | |
15 | g.72370696T>A | CA971336667 | HEXA | n.266+5024A>T c.253+5024A>T (n.253+5024A>T) c.254-2A>T (n.254-2A>T) n.284+5024A>T c.254-172A>T (n.254-172A>T) c.254-8A>T (n.254-8A>T) n.270+5024A>T n.250+5024A>T c.125+5024A>T c.234+5024A>T n.258+5024A>T n.754+5024A>T n.295+5024A>T | gnomAD v3 gnomAD v4 |
15 | g.72370696T>C | CA715476733 | HEXA | n.266+5024A>G c.253+5024A>G (n.253+5024A>G) c.254-2A>G (n.254-2A>G) n.284+5024A>G c.254-172A>G (n.254-172A>G) c.254-8A>G (n.254-8A>G) n.270+5024A>G n.250+5024A>G c.125+5024A>G c.234+5024A>G n.258+5024A>G n.754+5024A>G n.295+5024A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370696T= | CA2186756552 | HEXA | n.266+5024A= c.253+5024A= (n.253+5024A=) c.254-2A= (n.254-2A=) n.284+5024A= c.254-172A= (n.254-172A=) c.254-8A= (n.254-8A=) n.270+5024A= n.250+5024A= c.125+5024A= c.234+5024A= n.258+5024A= n.754+5024A= n.295+5024A= | |
15 | g.72370697dup | CA2186756553 | HEXA | n.266+5024dup c.253+5024dup (n.253+5024dup) c.254-2dup (n.254-2dup) n.284+5024dup c.254-172dup (n.254-172dup) c.254-8dup (n.254-8dup) n.270+5024dup n.250+5024dup c.125+5024dup c.234+5024dup n.258+5024dup n.754+5024dup n.295+5024dup | dbSNP gnomAD v4 |
15 | g.72370696_72370697insAAAAAAAAAAAA | CA971336671 | HEXA | n.266+5023_266+5024insTTTTTTTTTTTT c.253+5023_253+5024insTTTTTTTTTTTT (n.253+5023_253+5024insTTTTTTTTTTTT) c.254-3_254-2insTTTTTTTTTTTT (n.254-3_254-2insTTTTTTTTTTTT) n.284+5023_284+5024insTTTTTTTTTTTT c.254-173_254-172insTTTTTTTTTTTT (n.254-173_254-172insTTTTTTTTTTTT) c.254-9_254-8insTTTTTTTTTTTT (n.254-9_254-8insTTTTTTTTTTTT) n.270+5023_270+5024insTTTTTTTTTTTT n.250+5023_250+5024insTTTTTTTTTTTT c.125+5023_125+5024insTTTTTTTTTTTT c.234+5023_234+5024insTTTTTTTTTTTT n.258+5023_258+5024insTTTTTTTTTTTT n.754+5023_754+5024insTTTTTTTTTTTT n.295+5023_295+5024insTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370696_72370697insGAAAAAAAAAAA | CA2629342128 | HEXA | n.266+5023_266+5024insTTTTTTTTTTTC c.253+5023_253+5024insTTTTTTTTTTTC (n.253+5023_253+5024insTTTTTTTTTTTC) c.254-3_254-2insTTTTTTTTTTTC (n.254-3_254-2insTTTTTTTTTTTC) n.284+5023_284+5024insTTTTTTTTTTTC c.254-173_254-172insTTTTTTTTTTTC (n.254-173_254-172insTTTTTTTTTTTC) c.254-9_254-8insTTTTTTTTTTTC (n.254-9_254-8insTTTTTTTTTTTC) n.270+5023_270+5024insTTTTTTTTTTTC n.250+5023_250+5024insTTTTTTTTTTTC c.125+5023_125+5024insTTTTTTTTTTTC c.234+5023_234+5024insTTTTTTTTTTTC n.258+5023_258+5024insTTTTTTTTTTTC n.754+5023_754+5024insTTTTTTTTTTTC n.295+5023_295+5024insTTTTTTTTTTTC | gnomAD v4 |
15 | g.72370696_72370697insAAAAAAAAAAAAA | CA618769304 | HEXA | n.266+5023_266+5024insTTTTTTTTTTTTT c.253+5023_253+5024insTTTTTTTTTTTTT (n.253+5023_253+5024insTTTTTTTTTTTTT) c.254-3_254-2insTTTTTTTTTTTTT (n.254-3_254-2insTTTTTTTTTTTTT) n.284+5023_284+5024insTTTTTTTTTTTTT c.254-173_254-172insTTTTTTTTTTTTT (n.254-173_254-172insTTTTTTTTTTTTT) c.254-9_254-8insTTTTTTTTTTTTT (n.254-9_254-8insTTTTTTTTTTTTT) n.270+5023_270+5024insTTTTTTTTTTTTT n.250+5023_250+5024insTTTTTTTTTTTTT c.125+5023_125+5024insTTTTTTTTTTTTT c.234+5023_234+5024insTTTTTTTTTTTTT n.258+5023_258+5024insTTTTTTTTTTTTT n.754+5023_754+5024insTTTTTTTTTTTTT n.295+5023_295+5024insTTTTTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370696_72370697insCAAAAAAAAAAAA | CA618769305 | HEXA | n.266+5023_266+5024insTTTTTTTTTTTTG c.253+5023_253+5024insTTTTTTTTTTTTG (n.253+5023_253+5024insTTTTTTTTTTTTG) c.254-3_254-2insTTTTTTTTTTTTG (n.254-3_254-2insTTTTTTTTTTTTG) n.284+5023_284+5024insTTTTTTTTTTTTG c.254-173_254-172insTTTTTTTTTTTTG (n.254-173_254-172insTTTTTTTTTTTTG) c.254-9_254-8insTTTTTTTTTTTTG (n.254-9_254-8insTTTTTTTTTTTTG) n.270+5023_270+5024insTTTTTTTTTTTTG n.250+5023_250+5024insTTTTTTTTTTTTG c.125+5023_125+5024insTTTTTTTTTTTTG c.234+5023_234+5024insTTTTTTTTTTTTG n.258+5023_258+5024insTTTTTTTTTTTTG n.754+5023_754+5024insTTTTTTTTTTTTG n.295+5023_295+5024insTTTTTTTTTTTTG | gnomAD v2 |
15 | g.72370696_72370697insAAAAAAAAAAAAAA | CA971336670 | HEXA | n.266+5023_266+5024insTTTTTTTTTTTTTT c.253+5023_253+5024insTTTTTTTTTTTTTT (n.253+5023_253+5024insTTTTTTTTTTTTTT) c.254-3_254-2insTTTTTTTTTTTTTT (n.254-3_254-2insTTTTTTTTTTTTTT) n.284+5023_284+5024insTTTTTTTTTTTTTT c.254-173_254-172insTTTTTTTTTTTTTT (n.254-173_254-172insTTTTTTTTTTTTTT) c.254-9_254-8insTTTTTTTTTTTTTT (n.254-9_254-8insTTTTTTTTTTTTTT) n.270+5023_270+5024insTTTTTTTTTTTTTT n.250+5023_250+5024insTTTTTTTTTTTTTT c.125+5023_125+5024insTTTTTTTTTTTTTT c.234+5023_234+5024insTTTTTTTTTTTTTT n.258+5023_258+5024insTTTTTTTTTTTTTT n.754+5023_754+5024insTTTTTTTTTTTTTT n.295+5023_295+5024insTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370696_72370697insAAAAAAAAAAAAAG | CA2804697583 | HEXA | n.266+5023_266+5024insCTTTTTTTTTTTTT c.253+5023_253+5024insCTTTTTTTTTTTTT (n.253+5023_253+5024insCTTTTTTTTTTTTT) c.254-3_254-2insCTTTTTTTTTTTTT (n.254-3_254-2insCTTTTTTTTTTTTT) n.284+5023_284+5024insCTTTTTTTTTTTTT c.254-173_254-172insCTTTTTTTTTTTTT (n.254-173_254-172insCTTTTTTTTTTTTT) c.254-9_254-8insCTTTTTTTTTTTTT (n.254-9_254-8insCTTTTTTTTTTTTT) n.270+5023_270+5024insCTTTTTTTTTTTTT n.250+5023_250+5024insCTTTTTTTTTTTTT c.125+5023_125+5024insCTTTTTTTTTTTTT c.234+5023_234+5024insCTTTTTTTTTTTTT n.258+5023_258+5024insCTTTTTTTTTTTTT n.754+5023_754+5024insCTTTTTTTTTTTTT n.295+5023_295+5024insCTTTTTTTTTTTTT | |
15 | g.72370697T>A | CA971336669 | HEXA | n.266+5023A>T c.253+5023A>T (n.253+5023A>T) c.254-3A>T (n.254-3A>T) n.284+5023A>T c.254-173A>T (n.254-173A>T) c.254-9A>T (n.254-9A>T) n.270+5023A>T n.250+5023A>T c.125+5023A>T c.234+5023A>T n.258+5023A>T n.754+5023A>T n.295+5023A>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370697T>C | CA2629342123 | HEXA | n.266+5023A>G c.253+5023A>G (n.253+5023A>G) c.254-3A>G (n.254-3A>G) n.284+5023A>G c.254-173A>G (n.254-173A>G) c.254-9A>G (n.254-9A>G) n.270+5023A>G n.250+5023A>G c.125+5023A>G c.234+5023A>G n.258+5023A>G n.754+5023A>G n.295+5023A>G | gnomAD v4 |
15 | g.72370697T>G | CA971336668 | HEXA | n.266+5023A>C c.253+5023A>C (n.253+5023A>C) c.254-3A>C (n.254-3A>C) n.284+5023A>C c.254-173A>C (n.254-173A>C) c.254-9A>C (n.254-9A>C) n.270+5023A>C n.250+5023A>C c.125+5023A>C c.234+5023A>C n.258+5023A>C n.754+5023A>C n.295+5023A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370697T= | CA2186756554 | HEXA | n.266+5023A= c.253+5023A= (n.253+5023A=) c.254-3A= (n.254-3A=) n.284+5023A= c.254-173A= (n.254-173A=) c.254-9A= (n.254-9A=) n.270+5023A= n.250+5023A= c.125+5023A= c.234+5023A= n.258+5023A= n.754+5023A= n.295+5023A= | |
15 | g.72370697_72370698delinsTA | CA2186756555 | HEXA | n.266+5022_266+5023delinsTA c.253+5022_253+5023delinsTA (n.253+5022_253+5023delinsTA) c.254-4_254-3delinsTA (n.254-4_254-3delinsTA) n.284+5022_284+5023delinsTA c.254-174_254-173delinsTA (n.254-174_254-173delinsTA) c.254-10_254-9delinsTA (n.254-10_254-9delinsTA) n.270+5022_270+5023delinsTA n.250+5022_250+5023delinsTA c.125+5022_125+5023delinsTA c.234+5022_234+5023delinsTA n.258+5022_258+5023delinsTA n.754+5022_754+5023delinsTA n.295+5022_295+5023delinsTA | |
15 | g.72370708_72370709insATAAAAAAAAAAA | CA491132650 | HEXA | n.266+5023_266+5024insTTTTTTTTTTTTA c.253+5023_253+5024insTTTTTTTTTTTTA (n.253+5023_253+5024insTTTTTTTTTTTTA) c.254-3_254-2insTTTTTTTTTTTTA (n.254-3_254-2insTTTTTTTTTTTTA) n.284+5023_284+5024insTTTTTTTTTTTTA c.254-173_254-172insTTTTTTTTTTTTA (n.254-173_254-172insTTTTTTTTTTTTA) c.254-9_254-8insTTTTTTTTTTTTA (n.254-9_254-8insTTTTTTTTTTTTA) n.270+5023_270+5024insTTTTTTTTTTTTA n.250+5023_250+5024insTTTTTTTTTTTTA c.125+5023_125+5024insTTTTTTTTTTTTA c.234+5023_234+5024insTTTTTTTTTTTTA n.258+5023_258+5024insTTTTTTTTTTTTA n.754+5023_754+5024insTTTTTTTTTTTTA n.295+5023_295+5024insTTTTTTTTTTTTA | dbSNP |
15 | g.72370697_72370708dup | CA2629342131 | HEXA | n.266+5012_266+5023dup c.253+5012_253+5023dup (n.253+5012_253+5023dup) c.254-14_254-3dup (n.254-14_254-3dup) n.284+5012_284+5023dup c.254-184_254-173dup (n.254-184_254-173dup) c.254-20_254-9dup (n.254-20_254-9dup) n.270+5012_270+5023dup n.250+5012_250+5023dup c.125+5012_125+5023dup c.234+5012_234+5023dup n.258+5012_258+5023dup n.754+5012_754+5023dup n.295+5012_295+5023dup | gnomAD v4 |
15 | g.72370697_72370698insTAAAAAAAAAAG | CA2629342339 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTA c.253+5022_253+5023insCTTTTTTTTTTA (n.253+5022_253+5023insCTTTTTTTTTTA) c.254-4_254-3insCTTTTTTTTTTA (n.254-4_254-3insCTTTTTTTTTTA) n.284+5022_284+5023insCTTTTTTTTTTA c.254-174_254-173insCTTTTTTTTTTA (n.254-174_254-173insCTTTTTTTTTTA) c.254-10_254-9insCTTTTTTTTTTA (n.254-10_254-9insCTTTTTTTTTTA) n.270+5022_270+5023insCTTTTTTTTTTA n.250+5022_250+5023insCTTTTTTTTTTA c.125+5022_125+5023insCTTTTTTTTTTA c.234+5022_234+5023insCTTTTTTTTTTA n.258+5022_258+5023insCTTTTTTTTTTA n.754+5022_754+5023insCTTTTTTTTTTA n.295+5022_295+5023insCTTTTTTTTTTA | gnomAD v4 |
15 | g.72370697_72370698insTAAAAAAAAAAAG | CA715476742 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTA c.253+5022_253+5023insCTTTTTTTTTTTA (n.253+5022_253+5023insCTTTTTTTTTTTA) c.254-4_254-3insCTTTTTTTTTTTA (n.254-4_254-3insCTTTTTTTTTTTA) n.284+5022_284+5023insCTTTTTTTTTTTA c.254-174_254-173insCTTTTTTTTTTTA (n.254-174_254-173insCTTTTTTTTTTTA) c.254-10_254-9insCTTTTTTTTTTTA (n.254-10_254-9insCTTTTTTTTTTTA) n.270+5022_270+5023insCTTTTTTTTTTTA n.250+5022_250+5023insCTTTTTTTTTTTA c.125+5022_125+5023insCTTTTTTTTTTTA c.234+5022_234+5023insCTTTTTTTTTTTA n.258+5022_258+5023insCTTTTTTTTTTTA n.754+5022_754+5023insCTTTTTTTTTTTA n.295+5022_295+5023insCTTTTTTTTTTTA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370697_72370698insTAAAAAAAAAAAAAAG | CA2629342326 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTTTA c.253+5022_253+5023insCTTTTTTTTTTTTTTA (n.253+5022_253+5023insCTTTTTTTTTTTTTTA) c.254-4_254-3insCTTTTTTTTTTTTTTA (n.254-4_254-3insCTTTTTTTTTTTTTTA) n.284+5022_284+5023insCTTTTTTTTTTTTTTA c.254-174_254-173insCTTTTTTTTTTTTTTA (n.254-174_254-173insCTTTTTTTTTTTTTTA) c.254-10_254-9insCTTTTTTTTTTTTTTA (n.254-10_254-9insCTTTTTTTTTTTTTTA) n.270+5022_270+5023insCTTTTTTTTTTTTTTA n.250+5022_250+5023insCTTTTTTTTTTTTTTA c.125+5022_125+5023insCTTTTTTTTTTTTTTA c.234+5022_234+5023insCTTTTTTTTTTTTTTA n.258+5022_258+5023insCTTTTTTTTTTTTTTA n.754+5022_754+5023insCTTTTTTTTTTTTTTA n.295+5022_295+5023insCTTTTTTTTTTTTTTA | gnomAD v4 |
15 | g.72370698A= | CA2186756556 | HEXA | n.266+5022T= c.253+5022T= (n.253+5022T=) c.254-4T= (n.254-4T=) n.284+5022T= c.254-174T= (n.254-174T=) c.254-10T= (n.254-10T=) n.270+5022T= n.250+5022T= c.125+5022T= c.234+5022T= n.258+5022T= n.754+5022T= n.295+5022T= | |
15 | g.72370698A>T | CA272627094 | HEXA | n.266+5022T>A c.253+5022T>A (n.253+5022T>A) c.254-4T>A (n.254-4T>A) n.284+5022T>A c.254-174T>A (n.254-174T>A) c.254-10T>A (n.254-10T>A) n.270+5022T>A n.250+5022T>A c.125+5022T>A c.234+5022T>A n.258+5022T>A n.754+5022T>A n.295+5022T>A | dbSNP |
15 | g.72370698_72370699insGAAAAAAAAAAAGAA | CA2629342324 | HEXA | n.266+5022_266+5023insTCTTTTTTTTTTTCT c.253+5022_253+5023insTCTTTTTTTTTTTCT (n.253+5022_253+5023insTCTTTTTTTTTTTCT) c.254-4_254-3insTCTTTTTTTTTTTCT (n.254-4_254-3insTCTTTTTTTTTTTCT) n.284+5022_284+5023insTCTTTTTTTTTTTCT c.254-174_254-173insTCTTTTTTTTTTTCT (n.254-174_254-173insTCTTTTTTTTTTTCT) c.254-10_254-9insTCTTTTTTTTTTTCT (n.254-10_254-9insTCTTTTTTTTTTTCT) n.270+5022_270+5023insTCTTTTTTTTTTTCT n.250+5022_250+5023insTCTTTTTTTTTTTCT c.125+5022_125+5023insTCTTTTTTTTTTTCT c.234+5022_234+5023insTCTTTTTTTTTTTCT n.258+5022_258+5023insTCTTTTTTTTTTTCT n.754+5022_754+5023insTCTTTTTTTTTTTCT n.295+5022_295+5023insTCTTTTTTTTTTTCT | gnomAD v4 |
15 | g.72370699_72370700insGAAAAAAAAAAA | CA715476745 | HEXA | n.266+5022_266+5023insTTTTTTTTTCTT c.253+5022_253+5023insTTTTTTTTTCTT (n.253+5022_253+5023insTTTTTTTTTCTT) c.254-4_254-3insTTTTTTTTTCTT (n.254-4_254-3insTTTTTTTTTCTT) n.284+5022_284+5023insTTTTTTTTTCTT c.254-174_254-173insTTTTTTTTTCTT (n.254-174_254-173insTTTTTTTTTCTT) c.254-10_254-9insTTTTTTTTTCTT (n.254-10_254-9insTTTTTTTTTCTT) n.270+5022_270+5023insTTTTTTTTTCTT n.250+5022_250+5023insTTTTTTTTTCTT c.125+5022_125+5023insTTTTTTTTTCTT c.234+5022_234+5023insTTTTTTTTTCTT n.258+5022_258+5023insTTTTTTTTTCTT n.754+5022_754+5023insTTTTTTTTTCTT n.295+5022_295+5023insTTTTTTTTTCTT | dbSNP |
15 | g.72370699_72370700insTAAAAAAAAGAA | CA2629342321 | HEXA | n.266+5022_266+5023insCTTTTTTTTATT c.253+5022_253+5023insCTTTTTTTTATT (n.253+5022_253+5023insCTTTTTTTTATT) c.254-4_254-3insCTTTTTTTTATT (n.254-4_254-3insCTTTTTTTTATT) n.284+5022_284+5023insCTTTTTTTTATT c.254-174_254-173insCTTTTTTTTATT (n.254-174_254-173insCTTTTTTTTATT) c.254-10_254-9insCTTTTTTTTATT (n.254-10_254-9insCTTTTTTTTATT) n.270+5022_270+5023insCTTTTTTTTATT n.250+5022_250+5023insCTTTTTTTTATT c.125+5022_125+5023insCTTTTTTTTATT c.234+5022_234+5023insCTTTTTTTTATT n.258+5022_258+5023insCTTTTTTTTATT n.754+5022_754+5023insCTTTTTTTTATT n.295+5022_295+5023insCTTTTTTTTATT | gnomAD v4 |
15 | g.72370699_72370700insGAAAAAAAAAAAA | CA715476744 | HEXA | n.266+5022_266+5023insTTTTTTTTTTCTT c.253+5022_253+5023insTTTTTTTTTTCTT (n.253+5022_253+5023insTTTTTTTTTTCTT) c.254-4_254-3insTTTTTTTTTTCTT (n.254-4_254-3insTTTTTTTTTTCTT) n.284+5022_284+5023insTTTTTTTTTTCTT c.254-174_254-173insTTTTTTTTTTCTT (n.254-174_254-173insTTTTTTTTTTCTT) c.254-10_254-9insTTTTTTTTTTCTT (n.254-10_254-9insTTTTTTTTTTCTT) n.270+5022_270+5023insTTTTTTTTTTCTT n.250+5022_250+5023insTTTTTTTTTTCTT c.125+5022_125+5023insTTTTTTTTTTCTT c.234+5022_234+5023insTTTTTTTTTTCTT n.258+5022_258+5023insTTTTTTTTTTCTT n.754+5022_754+5023insTTTTTTTTTTCTT n.295+5022_295+5023insTTTTTTTTTTCTT | dbSNP |
15 | g.72370701_72370702insGAAAAAAAGAAAA | CA971336713 | HEXA | n.266+5022_266+5023insCTTTTTTTCTTTT c.253+5022_253+5023insCTTTTTTTCTTTT (n.253+5022_253+5023insCTTTTTTTCTTTT) c.254-4_254-3insCTTTTTTTCTTTT (n.254-4_254-3insCTTTTTTTCTTTT) n.284+5022_284+5023insCTTTTTTTCTTTT c.254-174_254-173insCTTTTTTTCTTTT (n.254-174_254-173insCTTTTTTTCTTTT) c.254-10_254-9insCTTTTTTTCTTTT (n.254-10_254-9insCTTTTTTTCTTTT) n.270+5022_270+5023insCTTTTTTTCTTTT n.250+5022_250+5023insCTTTTTTTCTTTT c.125+5022_125+5023insCTTTTTTTCTTTT c.234+5022_234+5023insCTTTTTTTCTTTT n.258+5022_258+5023insCTTTTTTTCTTTT n.754+5022_754+5023insCTTTTTTTCTTTT n.295+5022_295+5023insCTTTTTTTCTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370703_72370704insGAAAAGAAAAAA | CA2629342319 | HEXA | n.266+5022_266+5023insCTTTTCTTTTTT c.253+5022_253+5023insCTTTTCTTTTTT (n.253+5022_253+5023insCTTTTCTTTTTT) c.254-4_254-3insCTTTTCTTTTTT (n.254-4_254-3insCTTTTCTTTTTT) n.284+5022_284+5023insCTTTTCTTTTTT c.254-174_254-173insCTTTTCTTTTTT (n.254-174_254-173insCTTTTCTTTTTT) c.254-10_254-9insCTTTTCTTTTTT (n.254-10_254-9insCTTTTCTTTTTT) n.270+5022_270+5023insCTTTTCTTTTTT n.250+5022_250+5023insCTTTTCTTTTTT c.125+5022_125+5023insCTTTTCTTTTTT c.234+5022_234+5023insCTTTTCTTTTTT n.258+5022_258+5023insCTTTTCTTTTTT n.754+5022_754+5023insCTTTTCTTTTTT n.295+5022_295+5023insCTTTTCTTTTTT | gnomAD v4 |
15 | g.72370704_72370705insGAAAAAGAAAAAAA | CA2804697584 | HEXA | n.266+5022_266+5023insCTTTTTCTTTTTTT c.253+5022_253+5023insCTTTTTCTTTTTTT (n.253+5022_253+5023insCTTTTTCTTTTTTT) c.254-4_254-3insCTTTTTCTTTTTTT (n.254-4_254-3insCTTTTTCTTTTTTT) n.284+5022_284+5023insCTTTTTCTTTTTTT c.254-174_254-173insCTTTTTCTTTTTTT (n.254-174_254-173insCTTTTTCTTTTTTT) c.254-10_254-9insCTTTTTCTTTTTTT (n.254-10_254-9insCTTTTTCTTTTTTT) n.270+5022_270+5023insCTTTTTCTTTTTTT n.250+5022_250+5023insCTTTTTCTTTTTTT c.125+5022_125+5023insCTTTTTCTTTTTTT c.234+5022_234+5023insCTTTTTCTTTTTTT n.258+5022_258+5023insCTTTTTCTTTTTTT n.754+5022_754+5023insCTTTTTCTTTTTTT n.295+5022_295+5023insCTTTTTCTTTTTTT | |
15 | g.72370705_72370706insGAAAAAAAA | CA2804697585 | HEXA | n.266+5022_266+5023insCTTTTTTTT c.253+5022_253+5023insCTTTTTTTT (n.253+5022_253+5023insCTTTTTTTT) c.254-4_254-3insCTTTTTTTT (n.254-4_254-3insCTTTTTTTT) n.284+5022_284+5023insCTTTTTTTT c.254-174_254-173insCTTTTTTTT (n.254-174_254-173insCTTTTTTTT) c.254-10_254-9insCTTTTTTTT (n.254-10_254-9insCTTTTTTTT) n.270+5022_270+5023insCTTTTTTTT n.250+5022_250+5023insCTTTTTTTT c.125+5022_125+5023insCTTTTTTTT c.234+5022_234+5023insCTTTTTTTT n.258+5022_258+5023insCTTTTTTTT n.754+5022_754+5023insCTTTTTTTT n.295+5022_295+5023insCTTTTTTTT | |
15 | g.72370705_72370706insGAAAGAAAAAAAA | CA2629342315 | HEXA | n.266+5022_266+5023insCTTTCTTTTTTTT c.253+5022_253+5023insCTTTCTTTTTTTT (n.253+5022_253+5023insCTTTCTTTTTTTT) c.254-4_254-3insCTTTCTTTTTTTT (n.254-4_254-3insCTTTCTTTTTTTT) n.284+5022_284+5023insCTTTCTTTTTTTT c.254-174_254-173insCTTTCTTTTTTTT (n.254-174_254-173insCTTTCTTTTTTTT) c.254-10_254-9insCTTTCTTTTTTTT (n.254-10_254-9insCTTTCTTTTTTTT) n.270+5022_270+5023insCTTTCTTTTTTTT n.250+5022_250+5023insCTTTCTTTTTTTT c.125+5022_125+5023insCTTTCTTTTTTTT c.234+5022_234+5023insCTTTCTTTTTTTT n.258+5022_258+5023insCTTTCTTTTTTTT n.754+5022_754+5023insCTTTCTTTTTTTT n.295+5022_295+5023insCTTTCTTTTTTTT | gnomAD v4 |
15 | g.72370706_72370707insGAAAAAAAAA | CA2518117498 | HEXA | n.266+5022_266+5023insCTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTT) c.254-4_254-3insCTTTTTTTTT (n.254-4_254-3insCTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTT c.254-174_254-173insCTTTTTTTTT (n.254-174_254-173insCTTTTTTTTT) c.254-10_254-9insCTTTTTTTTT (n.254-10_254-9insCTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTT | gnomAD v4 |
15 | g.72370706_72370707insGAAAAAAAAAA | CA2629342290 | HEXA | n.266+5022_266+5023insTCTTTTTTTTT c.253+5022_253+5023insTCTTTTTTTTT (n.253+5022_253+5023insTCTTTTTTTTT) c.254-4_254-3insTCTTTTTTTTT (n.254-4_254-3insTCTTTTTTTTT) n.284+5022_284+5023insTCTTTTTTTTT c.254-174_254-173insTCTTTTTTTTT (n.254-174_254-173insTCTTTTTTTTT) c.254-10_254-9insTCTTTTTTTTT (n.254-10_254-9insTCTTTTTTTTT) n.270+5022_270+5023insTCTTTTTTTTT n.250+5022_250+5023insTCTTTTTTTTT c.125+5022_125+5023insTCTTTTTTTTT c.234+5022_234+5023insTCTTTTTTTTT n.258+5022_258+5023insTCTTTTTTTTT n.754+5022_754+5023insTCTTTTTTTTT n.295+5022_295+5023insTCTTTTTTTTT | gnomAD v4 |
15 | g.72370706_72370707insGGAAAAAAAAA | CA2629342310 | HEXA | n.266+5022_266+5023insCCTTTTTTTTT c.253+5022_253+5023insCCTTTTTTTTT (n.253+5022_253+5023insCCTTTTTTTTT) c.254-4_254-3insCCTTTTTTTTT (n.254-4_254-3insCCTTTTTTTTT) n.284+5022_284+5023insCCTTTTTTTTT c.254-174_254-173insCCTTTTTTTTT (n.254-174_254-173insCCTTTTTTTTT) c.254-10_254-9insCCTTTTTTTTT (n.254-10_254-9insCCTTTTTTTTT) n.270+5022_270+5023insCCTTTTTTTTT n.250+5022_250+5023insCCTTTTTTTTT c.125+5022_125+5023insCCTTTTTTTTT c.234+5022_234+5023insCCTTTTTTTTT n.258+5022_258+5023insCCTTTTTTTTT n.754+5022_754+5023insCCTTTTTTTTT n.295+5022_295+5023insCCTTTTTTTTT | gnomAD v4 |
15 | g.72370706_72370707insGAAAGAAAAAAAAA | CA971336711 | HEXA | n.266+5022_266+5023insCTTTCTTTTTTTTT c.253+5022_253+5023insCTTTCTTTTTTTTT (n.253+5022_253+5023insCTTTCTTTTTTTTT) c.254-4_254-3insCTTTCTTTTTTTTT (n.254-4_254-3insCTTTCTTTTTTTTT) n.284+5022_284+5023insCTTTCTTTTTTTTT c.254-174_254-173insCTTTCTTTTTTTTT (n.254-174_254-173insCTTTCTTTTTTTTT) c.254-10_254-9insCTTTCTTTTTTTTT (n.254-10_254-9insCTTTCTTTTTTTTT) n.270+5022_270+5023insCTTTCTTTTTTTTT n.250+5022_250+5023insCTTTCTTTTTTTTT c.125+5022_125+5023insCTTTCTTTTTTTTT c.234+5022_234+5023insCTTTCTTTTTTTTT n.258+5022_258+5023insCTTTCTTTTTTTTT n.754+5022_754+5023insCTTTCTTTTTTTTT n.295+5022_295+5023insCTTTCTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370707_72370708insGAAAAAAAAAA | CA971336690 | HEXA | n.266+5022_266+5023insCTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370707_72370708insCGAAAAAAAAAA | CA2629342241 | HEXA | n.266+5022_266+5023insCGTTTTTTTTTT c.253+5022_253+5023insCGTTTTTTTTTT (n.253+5022_253+5023insCGTTTTTTTTTT) c.254-4_254-3insCGTTTTTTTTTT (n.254-4_254-3insCGTTTTTTTTTT) n.284+5022_284+5023insCGTTTTTTTTTT c.254-174_254-173insCGTTTTTTTTTT (n.254-174_254-173insCGTTTTTTTTTT) c.254-10_254-9insCGTTTTTTTTTT (n.254-10_254-9insCGTTTTTTTTTT) n.270+5022_270+5023insCGTTTTTTTTTT n.250+5022_250+5023insCGTTTTTTTTTT c.125+5022_125+5023insCGTTTTTTTTTT c.234+5022_234+5023insCGTTTTTTTTTT n.258+5022_258+5023insCGTTTTTTTTTT n.754+5022_754+5023insCGTTTTTTTTTT n.295+5022_295+5023insCGTTTTTTTTTT | gnomAD v4 |
15 | g.72370707_72370708insGAAAAAAAAAAA | CA971336693 | HEXA | n.266+5022_266+5023insTCTTTTTTTTTT c.253+5022_253+5023insTCTTTTTTTTTT (n.253+5022_253+5023insTCTTTTTTTTTT) c.254-4_254-3insTCTTTTTTTTTT (n.254-4_254-3insTCTTTTTTTTTT) n.284+5022_284+5023insTCTTTTTTTTTT c.254-174_254-173insTCTTTTTTTTTT (n.254-174_254-173insTCTTTTTTTTTT) c.254-10_254-9insTCTTTTTTTTTT (n.254-10_254-9insTCTTTTTTTTTT) n.270+5022_270+5023insTCTTTTTTTTTT n.250+5022_250+5023insTCTTTTTTTTTT c.125+5022_125+5023insTCTTTTTTTTTT c.234+5022_234+5023insTCTTTTTTTTTT n.258+5022_258+5023insTCTTTTTTTTTT n.754+5022_754+5023insTCTTTTTTTTTT n.295+5022_295+5023insTCTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370707_72370708insGAAAAAAAAAAAA | CA2629342240 | HEXA | n.266+5022_266+5023insTTCTTTTTTTTTT c.253+5022_253+5023insTTCTTTTTTTTTT (n.253+5022_253+5023insTTCTTTTTTTTTT) c.254-4_254-3insTTCTTTTTTTTTT (n.254-4_254-3insTTCTTTTTTTTTT) n.284+5022_284+5023insTTCTTTTTTTTTT c.254-174_254-173insTTCTTTTTTTTTT (n.254-174_254-173insTTCTTTTTTTTTT) c.254-10_254-9insTTCTTTTTTTTTT (n.254-10_254-9insTTCTTTTTTTTTT) n.270+5022_270+5023insTTCTTTTTTTTTT n.250+5022_250+5023insTTCTTTTTTTTTT c.125+5022_125+5023insTTCTTTTTTTTTT c.234+5022_234+5023insTTCTTTTTTTTTT n.258+5022_258+5023insTTCTTTTTTTTTT n.754+5022_754+5023insTTCTTTTTTTTTT n.295+5022_295+5023insTTCTTTTTTTTTT | gnomAD v4 |
15 | g.72370707_72370708insGAAAAAAAAAAAAA | CA2629342280 | HEXA | n.266+5022_266+5023insTTTCTTTTTTTTTT c.253+5022_253+5023insTTTCTTTTTTTTTT (n.253+5022_253+5023insTTTCTTTTTTTTTT) c.254-4_254-3insTTTCTTTTTTTTTT (n.254-4_254-3insTTTCTTTTTTTTTT) n.284+5022_284+5023insTTTCTTTTTTTTTT c.254-174_254-173insTTTCTTTTTTTTTT (n.254-174_254-173insTTTCTTTTTTTTTT) c.254-10_254-9insTTTCTTTTTTTTTT (n.254-10_254-9insTTTCTTTTTTTTTT) n.270+5022_270+5023insTTTCTTTTTTTTTT n.250+5022_250+5023insTTTCTTTTTTTTTT c.125+5022_125+5023insTTTCTTTTTTTTTT c.234+5022_234+5023insTTTCTTTTTTTTTT n.258+5022_258+5023insTTTCTTTTTTTTTT n.754+5022_754+5023insTTTCTTTTTTTTTT n.295+5022_295+5023insTTTCTTTTTTTTTT | gnomAD v4 |
15 | g.72370707_72370708insGAGAAAAAAAAAAA | CA2629342284 | HEXA | n.266+5022_266+5023insTCTCTTTTTTTTTT c.253+5022_253+5023insTCTCTTTTTTTTTT (n.253+5022_253+5023insTCTCTTTTTTTTTT) c.254-4_254-3insTCTCTTTTTTTTTT (n.254-4_254-3insTCTCTTTTTTTTTT) n.284+5022_284+5023insTCTCTTTTTTTTTT c.254-174_254-173insTCTCTTTTTTTTTT (n.254-174_254-173insTCTCTTTTTTTTTT) c.254-10_254-9insTCTCTTTTTTTTTT (n.254-10_254-9insTCTCTTTTTTTTTT) n.270+5022_270+5023insTCTCTTTTTTTTTT n.250+5022_250+5023insTCTCTTTTTTTTTT c.125+5022_125+5023insTCTCTTTTTTTTTT c.234+5022_234+5023insTCTCTTTTTTTTTT n.258+5022_258+5023insTCTCTTTTTTTTTT n.754+5022_754+5023insTCTCTTTTTTTTTT n.295+5022_295+5023insTCTCTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAA | CA971336732 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insCAAAAAAAAAAA | CA2629342271 | HEXA | n.266+5022_266+5023insGTTTTTTTTTTT c.253+5022_253+5023insGTTTTTTTTTTT (n.253+5022_253+5023insGTTTTTTTTTTT) c.254-4_254-3insGTTTTTTTTTTT (n.254-4_254-3insGTTTTTTTTTTT) n.284+5022_284+5023insGTTTTTTTTTTT c.254-174_254-173insGTTTTTTTTTTT (n.254-174_254-173insGTTTTTTTTTTT) c.254-10_254-9insGTTTTTTTTTTT (n.254-10_254-9insGTTTTTTTTTTT) n.270+5022_270+5023insGTTTTTTTTTTT n.250+5022_250+5023insGTTTTTTTTTTT c.125+5022_125+5023insGTTTTTTTTTTT c.234+5022_234+5023insGTTTTTTTTTTT n.258+5022_258+5023insGTTTTTTTTTTT n.754+5022_754+5023insGTTTTTTTTTTT n.295+5022_295+5023insGTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAA | CA971336733 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insACAAAAAAAAAAA | CA2629342415 | HEXA | n.266+5022_266+5023insGTTTTTTTTTTTT c.253+5022_253+5023insGTTTTTTTTTTTT (n.253+5022_253+5023insGTTTTTTTTTTTT) c.254-4_254-3insGTTTTTTTTTTTT (n.254-4_254-3insGTTTTTTTTTTTT) n.284+5022_284+5023insGTTTTTTTTTTTT c.254-174_254-173insGTTTTTTTTTTTT (n.254-174_254-173insGTTTTTTTTTTTT) c.254-10_254-9insGTTTTTTTTTTTT (n.254-10_254-9insGTTTTTTTTTTTT) n.270+5022_270+5023insGTTTTTTTTTTTT n.250+5022_250+5023insGTTTTTTTTTTTT c.125+5022_125+5023insGTTTTTTTTTTTT c.234+5022_234+5023insGTTTTTTTTTTTT n.258+5022_258+5023insGTTTTTTTTTTTT n.754+5022_754+5023insGTTTTTTTTTTTT n.295+5022_295+5023insGTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAA | CA272627106 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insCAAAAAAAAAAAA | CA2629342269 | HEXA | n.266+5022_266+5023insTGTTTTTTTTTTT c.253+5022_253+5023insTGTTTTTTTTTTT (n.253+5022_253+5023insTGTTTTTTTTTTT) c.254-4_254-3insTGTTTTTTTTTTT (n.254-4_254-3insTGTTTTTTTTTTT) n.284+5022_284+5023insTGTTTTTTTTTTT c.254-174_254-173insTGTTTTTTTTTTT (n.254-174_254-173insTGTTTTTTTTTTT) c.254-10_254-9insTGTTTTTTTTTTT (n.254-10_254-9insTGTTTTTTTTTTT) n.270+5022_270+5023insTGTTTTTTTTTTT n.250+5022_250+5023insTGTTTTTTTTTTT c.125+5022_125+5023insTGTTTTTTTTTTT c.234+5022_234+5023insTGTTTTTTTTTTT n.258+5022_258+5023insTGTTTTTTTTTTT n.754+5022_754+5023insTGTTTTTTTTTTT n.295+5022_295+5023insTGTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAAA | CA971336735 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAACAAAAAAAAAAA | CA2629342438 | HEXA | n.266+5022_266+5023insGTTTTTTTTTTTTT c.253+5022_253+5023insGTTTTTTTTTTTTT (n.253+5022_253+5023insGTTTTTTTTTTTTT) c.254-4_254-3insGTTTTTTTTTTTTT (n.254-4_254-3insGTTTTTTTTTTTTT) n.284+5022_284+5023insGTTTTTTTTTTTTT c.254-174_254-173insGTTTTTTTTTTTTT (n.254-174_254-173insGTTTTTTTTTTTTT) c.254-10_254-9insGTTTTTTTTTTTTT (n.254-10_254-9insGTTTTTTTTTTTTT) n.270+5022_270+5023insGTTTTTTTTTTTTT n.250+5022_250+5023insGTTTTTTTTTTTTT c.125+5022_125+5023insGTTTTTTTTTTTTT c.234+5022_234+5023insGTTTTTTTTTTTTT n.258+5022_258+5023insGTTTTTTTTTTTTT n.754+5022_754+5023insGTTTTTTTTTTTTT n.295+5022_295+5023insGTTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAGAAAAAAAAAAA | CA272627127 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insACAAAAAAAAAAAA | CA2629342399 | HEXA | n.266+5022_266+5023insTGTTTTTTTTTTTT c.253+5022_253+5023insTGTTTTTTTTTTTT (n.253+5022_253+5023insTGTTTTTTTTTTTT) c.254-4_254-3insTGTTTTTTTTTTTT (n.254-4_254-3insTGTTTTTTTTTTTT) n.284+5022_284+5023insTGTTTTTTTTTTTT c.254-174_254-173insTGTTTTTTTTTTTT (n.254-174_254-173insTGTTTTTTTTTTTT) c.254-10_254-9insTGTTTTTTTTTTTT (n.254-10_254-9insTGTTTTTTTTTTTT) n.270+5022_270+5023insTGTTTTTTTTTTTT n.250+5022_250+5023insTGTTTTTTTTTTTT c.125+5022_125+5023insTGTTTTTTTTTTTT c.234+5022_234+5023insTGTTTTTTTTTTTT n.258+5022_258+5023insTGTTTTTTTTTTTT n.754+5022_754+5023insTGTTTTTTTTTTTT n.295+5022_295+5023insTGTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAA | CA715476751 | HEXA | n.266+5022_266+5023insTCTTTTTTTTTTTT c.253+5022_253+5023insTCTTTTTTTTTTTT (n.253+5022_253+5023insTCTTTTTTTTTTTT) c.254-4_254-3insTCTTTTTTTTTTTT (n.254-4_254-3insTCTTTTTTTTTTTT) n.284+5022_284+5023insTCTTTTTTTTTTTT c.254-174_254-173insTCTTTTTTTTTTTT (n.254-174_254-173insTCTTTTTTTTTTTT) c.254-10_254-9insTCTTTTTTTTTTTT (n.254-10_254-9insTCTTTTTTTTTTTT) n.270+5022_270+5023insTCTTTTTTTTTTTT n.250+5022_250+5023insTCTTTTTTTTTTTT c.125+5022_125+5023insTCTTTTTTTTTTTT c.234+5022_234+5023insTCTTTTTTTTTTTT n.258+5022_258+5023insTCTTTTTTTTTTTT n.754+5022_754+5023insTCTTTTTTTTTTTT n.295+5022_295+5023insTCTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGGAAAAAAAAAAA | CA2629342258 | HEXA | n.266+5022_266+5023insCCTTTTTTTTTTTT c.253+5022_253+5023insCCTTTTTTTTTTTT (n.253+5022_253+5023insCCTTTTTTTTTTTT) c.254-4_254-3insCCTTTTTTTTTTTT (n.254-4_254-3insCCTTTTTTTTTTTT) n.284+5022_284+5023insCCTTTTTTTTTTTT c.254-174_254-173insCCTTTTTTTTTTTT (n.254-174_254-173insCCTTTTTTTTTTTT) c.254-10_254-9insCCTTTTTTTTTTTT (n.254-10_254-9insCCTTTTTTTTTTTT) n.270+5022_270+5023insCCTTTTTTTTTTTT n.250+5022_250+5023insCCTTTTTTTTTTTT c.125+5022_125+5023insCCTTTTTTTTTTTT c.234+5022_234+5023insCCTTTTTTTTTTTT n.258+5022_258+5023insCCTTTTTTTTTTTT n.754+5022_754+5023insCCTTTTTTTTTTTT n.295+5022_295+5023insCCTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insATAAAAAAAAAAAA | CA2629342275 | HEXA | n.266+5022_266+5023insTATTTTTTTTTTTT c.253+5022_253+5023insTATTTTTTTTTTTT (n.253+5022_253+5023insTATTTTTTTTTTTT) c.254-4_254-3insTATTTTTTTTTTTT (n.254-4_254-3insTATTTTTTTTTTTT) n.284+5022_284+5023insTATTTTTTTTTTTT c.254-174_254-173insTATTTTTTTTTTTT (n.254-174_254-173insTATTTTTTTTTTTT) c.254-10_254-9insTATTTTTTTTTTTT (n.254-10_254-9insTATTTTTTTTTTTT) n.270+5022_270+5023insTATTTTTTTTTTTT n.250+5022_250+5023insTATTTTTTTTTTTT c.125+5022_125+5023insTATTTTTTTTTTTT c.234+5022_234+5023insTATTTTTTTTTTTT n.258+5022_258+5023insTATTTTTTTTTTTT n.754+5022_754+5023insTATTTTTTTTTTTT n.295+5022_295+5023insTATTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insCAAAAAAAAAAAAA | CA2629342267 | HEXA | n.266+5022_266+5023insTTGTTTTTTTTTTT c.253+5022_253+5023insTTGTTTTTTTTTTT (n.253+5022_253+5023insTTGTTTTTTTTTTT) c.254-4_254-3insTTGTTTTTTTTTTT (n.254-4_254-3insTTGTTTTTTTTTTT) n.284+5022_284+5023insTTGTTTTTTTTTTT c.254-174_254-173insTTGTTTTTTTTTTT (n.254-174_254-173insTTGTTTTTTTTTTT) c.254-10_254-9insTTGTTTTTTTTTTT (n.254-10_254-9insTTGTTTTTTTTTTT) n.270+5022_270+5023insTTGTTTTTTTTTTT n.250+5022_250+5023insTTGTTTTTTTTTTT c.125+5022_125+5023insTTGTTTTTTTTTTT c.234+5022_234+5023insTTGTTTTTTTTTTT n.258+5022_258+5023insTTGTTTTTTTTTTT n.754+5022_754+5023insTTGTTTTTTTTTTT n.295+5022_295+5023insTTGTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insTAGAAAAAAAAAAA | CA715476747 | HEXA | n.266+5022_266+5023insCTATTTTTTTTTTT c.253+5022_253+5023insCTATTTTTTTTTTT (n.253+5022_253+5023insCTATTTTTTTTTTT) c.254-4_254-3insCTATTTTTTTTTTT (n.254-4_254-3insCTATTTTTTTTTTT) n.284+5022_284+5023insCTATTTTTTTTTTT c.254-174_254-173insCTATTTTTTTTTTT (n.254-174_254-173insCTATTTTTTTTTTT) c.254-10_254-9insCTATTTTTTTTTTT (n.254-10_254-9insCTATTTTTTTTTTT) n.270+5022_270+5023insCTATTTTTTTTTTT n.250+5022_250+5023insCTATTTTTTTTTTT c.125+5022_125+5023insCTATTTTTTTTTTT c.234+5022_234+5023insCTATTTTTTTTTTT n.258+5022_258+5023insCTATTTTTTTTTTT n.754+5022_754+5023insCTATTTTTTTTTTT n.295+5022_295+5023insCTATTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAAAA | CA2629342384 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAGAAAAAAAAAAA | CA715476755 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAACAAAAAAAAAAAA | CA2629342434 | HEXA | n.266+5022_266+5023insTGTTTTTTTTTTTTT c.253+5022_253+5023insTGTTTTTTTTTTTTT (n.253+5022_253+5023insTGTTTTTTTTTTTTT) c.254-4_254-3insTGTTTTTTTTTTTTT (n.254-4_254-3insTGTTTTTTTTTTTTT) n.284+5022_284+5023insTGTTTTTTTTTTTTT c.254-174_254-173insTGTTTTTTTTTTTTT (n.254-174_254-173insTGTTTTTTTTTTTTT) c.254-10_254-9insTGTTTTTTTTTTTTT (n.254-10_254-9insTGTTTTTTTTTTTTT) n.270+5022_270+5023insTGTTTTTTTTTTTTT n.250+5022_250+5023insTGTTTTTTTTTTTTT c.125+5022_125+5023insTGTTTTTTTTTTTTT c.234+5022_234+5023insTGTTTTTTTTTTTTT n.258+5022_258+5023insTGTTTTTTTTTTTTT n.754+5022_754+5023insTGTTTTTTTTTTTTT n.295+5022_295+5023insTGTTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAGAAAAAAAAAAAA | CA971336742 | HEXA | n.266+5022_266+5023insTCTTTTTTTTTTTTT c.253+5022_253+5023insTCTTTTTTTTTTTTT (n.253+5022_253+5023insTCTTTTTTTTTTTTT) c.254-4_254-3insTCTTTTTTTTTTTTT (n.254-4_254-3insTCTTTTTTTTTTTTT) n.284+5022_284+5023insTCTTTTTTTTTTTTT c.254-174_254-173insTCTTTTTTTTTTTTT (n.254-174_254-173insTCTTTTTTTTTTTTT) c.254-10_254-9insTCTTTTTTTTTTTTT (n.254-10_254-9insTCTTTTTTTTTTTTT) n.270+5022_270+5023insTCTTTTTTTTTTTTT n.250+5022_250+5023insTCTTTTTTTTTTTTT c.125+5022_125+5023insTCTTTTTTTTTTTTT c.234+5022_234+5023insTCTTTTTTTTTTTTT n.258+5022_258+5023insTCTTTTTTTTTTTTT n.754+5022_754+5023insTCTTTTTTTTTTTTT n.295+5022_295+5023insTCTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAATAAAAAAAAAAAA | CA2629342419 | HEXA | n.266+5022_266+5023insTATTTTTTTTTTTTT c.253+5022_253+5023insTATTTTTTTTTTTTT (n.253+5022_253+5023insTATTTTTTTTTTTTT) c.254-4_254-3insTATTTTTTTTTTTTT (n.254-4_254-3insTATTTTTTTTTTTTT) n.284+5022_284+5023insTATTTTTTTTTTTTT c.254-174_254-173insTATTTTTTTTTTTTT (n.254-174_254-173insTATTTTTTTTTTTTT) c.254-10_254-9insTATTTTTTTTTTTTT (n.254-10_254-9insTATTTTTTTTTTTTT) n.270+5022_270+5023insTATTTTTTTTTTTTT n.250+5022_250+5023insTATTTTTTTTTTTTT c.125+5022_125+5023insTATTTTTTTTTTTTT c.234+5022_234+5023insTATTTTTTTTTTTTT n.258+5022_258+5023insTATTTTTTTTTTTTT n.754+5022_754+5023insTATTTTTTTTTTTTT n.295+5022_295+5023insTATTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAAA | CA715476757 | HEXA | n.266+5022_266+5023insTTCTTTTTTTTTTTT c.253+5022_253+5023insTTCTTTTTTTTTTTT (n.253+5022_253+5023insTTCTTTTTTTTTTTT) c.254-4_254-3insTTCTTTTTTTTTTTT (n.254-4_254-3insTTCTTTTTTTTTTTT) n.284+5022_284+5023insTTCTTTTTTTTTTTT c.254-174_254-173insTTCTTTTTTTTTTTT (n.254-174_254-173insTTCTTTTTTTTTTTT) c.254-10_254-9insTTCTTTTTTTTTTTT (n.254-10_254-9insTTCTTTTTTTTTTTT) n.270+5022_270+5023insTTCTTTTTTTTTTTT n.250+5022_250+5023insTTCTTTTTTTTTTTT c.125+5022_125+5023insTTCTTTTTTTTTTTT c.234+5022_234+5023insTTCTTTTTTTTTTTT n.258+5022_258+5023insTTCTTTTTTTTTTTT n.754+5022_754+5023insTTCTTTTTTTTTTTT n.295+5022_295+5023insTTCTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insTAGAAAAAAAAAAAA | CA2629342245 | HEXA | n.266+5022_266+5023insTCTATTTTTTTTTTT c.253+5022_253+5023insTCTATTTTTTTTTTT (n.253+5022_253+5023insTCTATTTTTTTTTTT) c.254-4_254-3insTCTATTTTTTTTTTT (n.254-4_254-3insTCTATTTTTTTTTTT) n.284+5022_284+5023insTCTATTTTTTTTTTT c.254-174_254-173insTCTATTTTTTTTTTT (n.254-174_254-173insTCTATTTTTTTTTTT) c.254-10_254-9insTCTATTTTTTTTTTT (n.254-10_254-9insTCTATTTTTTTTTTT) n.270+5022_270+5023insTCTATTTTTTTTTTT n.250+5022_250+5023insTCTATTTTTTTTTTT c.125+5022_125+5023insTCTATTTTTTTTTTT c.234+5022_234+5023insTCTATTTTTTTTTTT n.258+5022_258+5023insTCTATTTTTTTTTTT n.754+5022_754+5023insTCTATTTTTTTTTTT n.295+5022_295+5023insTCTATTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAAAAA | CA971336738 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAAGAAAAAAAAAAA | CA971336758 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAGAAAAAAAAAAAA | CA2595819479 | HEXA | n.266+5022_266+5023insTCTTTTTTTTTTTTTT c.253+5022_253+5023insTCTTTTTTTTTTTTTT (n.253+5022_253+5023insTCTTTTTTTTTTTTTT) c.254-4_254-3insTCTTTTTTTTTTTTTT (n.254-4_254-3insTCTTTTTTTTTTTTTT) n.284+5022_284+5023insTCTTTTTTTTTTTTTT c.254-174_254-173insTCTTTTTTTTTTTTTT (n.254-174_254-173insTCTTTTTTTTTTTTTT) c.254-10_254-9insTCTTTTTTTTTTTTTT (n.254-10_254-9insTCTTTTTTTTTTTTTT) n.270+5022_270+5023insTCTTTTTTTTTTTTTT n.250+5022_250+5023insTCTTTTTTTTTTTTTT c.125+5022_125+5023insTCTTTTTTTTTTTTTT c.234+5022_234+5023insTCTTTTTTTTTTTTTT n.258+5022_258+5023insTCTTTTTTTTTTTTTT n.754+5022_754+5023insTCTTTTTTTTTTTTTT n.295+5022_295+5023insTCTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAGAAAAAAAAAAAAA | CA2629342426 | HEXA | n.266+5022_266+5023insTTCTTTTTTTTTTTTT c.253+5022_253+5023insTTCTTTTTTTTTTTTT (n.253+5022_253+5023insTTCTTTTTTTTTTTTT) c.254-4_254-3insTTCTTTTTTTTTTTTT (n.254-4_254-3insTTCTTTTTTTTTTTTT) n.284+5022_284+5023insTTCTTTTTTTTTTTTT c.254-174_254-173insTTCTTTTTTTTTTTTT (n.254-174_254-173insTTCTTTTTTTTTTTTT) c.254-10_254-9insTTCTTTTTTTTTTTTT (n.254-10_254-9insTTCTTTTTTTTTTTTT) n.270+5022_270+5023insTTCTTTTTTTTTTTTT n.250+5022_250+5023insTTCTTTTTTTTTTTTT c.125+5022_125+5023insTTCTTTTTTTTTTTTT c.234+5022_234+5023insTTCTTTTTTTTTTTTT n.258+5022_258+5023insTTCTTTTTTTTTTTTT n.754+5022_754+5023insTTCTTTTTTTTTTTTT n.295+5022_295+5023insTTCTTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAAAA | CA971336677 | HEXA | n.266+5022_266+5023insTTTCTTTTTTTTTTTT c.253+5022_253+5023insTTTCTTTTTTTTTTTT (n.253+5022_253+5023insTTTCTTTTTTTTTTTT) c.254-4_254-3insTTTCTTTTTTTTTTTT (n.254-4_254-3insTTTCTTTTTTTTTTTT) n.284+5022_284+5023insTTTCTTTTTTTTTTTT c.254-174_254-173insTTTCTTTTTTTTTTTT (n.254-174_254-173insTTTCTTTTTTTTTTTT) c.254-10_254-9insTTTCTTTTTTTTTTTT (n.254-10_254-9insTTTCTTTTTTTTTTTT) n.270+5022_270+5023insTTTCTTTTTTTTTTTT n.250+5022_250+5023insTTTCTTTTTTTTTTTT c.125+5022_125+5023insTTTCTTTTTTTTTTTT c.234+5022_234+5023insTTTCTTTTTTTTTTTT n.258+5022_258+5023insTTTCTTTTTTTTTTTT n.754+5022_754+5023insTTTCTTTTTTTTTTTT n.295+5022_295+5023insTTTCTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAAAAAA | CA971336741 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAAAGAAAAAAAAAAA | CA2629342387 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAAGAAAAAAAAAAAA | CA2629342355 | HEXA | n.266+5022_266+5023insTCTTTTTTTTTTTTTTT c.253+5022_253+5023insTCTTTTTTTTTTTTTTT (n.253+5022_253+5023insTCTTTTTTTTTTTTTTT) c.254-4_254-3insTCTTTTTTTTTTTTTTT (n.254-4_254-3insTCTTTTTTTTTTTTTTT) n.284+5022_284+5023insTCTTTTTTTTTTTTTTT c.254-174_254-173insTCTTTTTTTTTTTTTTT (n.254-174_254-173insTCTTTTTTTTTTTTTTT) c.254-10_254-9insTCTTTTTTTTTTTTTTT (n.254-10_254-9insTCTTTTTTTTTTTTTTT) n.270+5022_270+5023insTCTTTTTTTTTTTTTTT n.250+5022_250+5023insTCTTTTTTTTTTTTTTT c.125+5022_125+5023insTCTTTTTTTTTTTTTTT c.234+5022_234+5023insTCTTTTTTTTTTTTTTT n.258+5022_258+5023insTCTTTTTTTTTTTTTTT n.754+5022_754+5023insTCTTTTTTTTTTTTTTT n.295+5022_295+5023insTCTTTTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAGAAAAAAAAAAAAA | CA2629342411 | HEXA | n.266+5022_266+5023insTTCTTTTTTTTTTTTTT c.253+5022_253+5023insTTCTTTTTTTTTTTTTT (n.253+5022_253+5023insTTCTTTTTTTTTTTTTT) c.254-4_254-3insTTCTTTTTTTTTTTTTT (n.254-4_254-3insTTCTTTTTTTTTTTTTT) n.284+5022_284+5023insTTCTTTTTTTTTTTTTT c.254-174_254-173insTTCTTTTTTTTTTTTTT (n.254-174_254-173insTTCTTTTTTTTTTTTTT) c.254-10_254-9insTTCTTTTTTTTTTTTTT (n.254-10_254-9insTTCTTTTTTTTTTTTTT) n.270+5022_270+5023insTTCTTTTTTTTTTTTTT n.250+5022_250+5023insTTCTTTTTTTTTTTTTT c.125+5022_125+5023insTTCTTTTTTTTTTTTTT c.234+5022_234+5023insTTCTTTTTTTTTTTTTT n.258+5022_258+5023insTTCTTTTTTTTTTTTTT n.754+5022_754+5023insTTCTTTTTTTTTTTTTT n.295+5022_295+5023insTTCTTTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAGAAAGAAAAAAAAAAA | CA2629342361 | HEXA | n.266+5022_266+5023insCTTTCTTTTTTTTTTTT c.253+5022_253+5023insCTTTCTTTTTTTTTTTT (n.253+5022_253+5023insCTTTCTTTTTTTTTTTT) c.254-4_254-3insCTTTCTTTTTTTTTTTT (n.254-4_254-3insCTTTCTTTTTTTTTTTT) n.284+5022_284+5023insCTTTCTTTTTTTTTTTT c.254-174_254-173insCTTTCTTTTTTTTTTTT (n.254-174_254-173insCTTTCTTTTTTTTTTTT) c.254-10_254-9insCTTTCTTTTTTTTTTTT (n.254-10_254-9insCTTTCTTTTTTTTTTTT) n.270+5022_270+5023insCTTTCTTTTTTTTTTTT n.250+5022_250+5023insCTTTCTTTTTTTTTTTT c.125+5022_125+5023insCTTTCTTTTTTTTTTTT c.234+5022_234+5023insCTTTCTTTTTTTTTTTT n.258+5022_258+5023insCTTTCTTTTTTTTTTTT n.754+5022_754+5023insCTTTCTTTTTTTTTTTT n.295+5022_295+5023insCTTTCTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAAAAAAA | CA971336740 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTTT | |
15 | g.72370708_72370709insAAAAAAAAAAAAAAAAAAAAAA | CA971336761 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAGAAAAAAAAAAA | CA919587947 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTCTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTCTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTCTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTCTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTCTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTCTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTCTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTCTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTCTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTCTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTCTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTCTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTCTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTCTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTCTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTCTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTCTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAAAAAAAAAAAAAAA | CA971336763 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA971336745 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA971336679 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTCTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAAAAAGAAAAAAAAAAA | CA919587948 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA | CA2595819478 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA | CA971336683 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA | CA971336682 | HEXA | n.266+5022_266+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.253+5022_253+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.253+5022_253+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-4_254-3insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-4_254-3insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.284+5022_284+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.254-174_254-173insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-174_254-173insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-10_254-9insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-10_254-9insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.270+5022_270+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.250+5022_250+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.125+5022_125+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.234+5022_234+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.258+5022_258+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.754+5022_754+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.295+5022_295+5023insCTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2595819477 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insATAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA971336685 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA971336680 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370708dup | CA715476761 | HEXA | n.266+5022dup c.253+5022dup (n.253+5022dup) c.254-4dup (n.254-4dup) n.284+5022dup c.254-174dup (n.254-174dup) c.254-10dup (n.254-10dup) n.270+5022dup n.250+5022dup c.125+5022dup c.234+5022dup n.258+5022dup n.754+5022dup n.295+5022dup | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370707_72370708dup | CA715476756 | HEXA | n.266+5021_266+5022dup c.253+5021_253+5022dup (n.253+5021_253+5022dup) c.254-5_254-4dup (n.254-5_254-4dup) n.284+5021_284+5022dup c.254-175_254-174dup (n.254-175_254-174dup) c.254-11_254-10dup (n.254-11_254-10dup) n.270+5021_270+5022dup n.250+5021_250+5022dup c.125+5021_125+5022dup c.234+5021_234+5022dup n.258+5021_258+5022dup n.754+5021_754+5022dup n.295+5021_295+5022dup | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370706_72370708dup | CA2629342370 | HEXA | n.266+5020_266+5022dup c.253+5020_253+5022dup (n.253+5020_253+5022dup) c.254-6_254-4dup (n.254-6_254-4dup) n.284+5020_284+5022dup c.254-176_254-174dup (n.254-176_254-174dup) c.254-12_254-10dup (n.254-12_254-10dup) n.270+5020_270+5022dup n.250+5020_250+5022dup c.125+5020_125+5022dup c.234+5020_234+5022dup n.258+5020_258+5022dup n.754+5020_754+5022dup n.295+5020_295+5022dup | gnomAD v4 |
15 | g.72370701_72370708dup | CA971336725 | HEXA | n.266+5015_266+5022dup c.253+5015_253+5022dup (n.253+5015_253+5022dup) c.254-11_254-4dup (n.254-11_254-4dup) n.284+5015_284+5022dup c.254-181_254-174dup (n.254-181_254-174dup) c.254-17_254-10dup (n.254-17_254-10dup) n.270+5015_270+5022dup n.250+5015_250+5022dup c.125+5015_125+5022dup c.234+5015_234+5022dup n.258+5015_258+5022dup n.754+5015_754+5022dup n.295+5015_295+5022dup | gnomAD v3 gnomAD v4 |
15 | g.72370700_72370708dup | CA2629342374 | HEXA | n.266+5014_266+5022dup c.253+5014_253+5022dup (n.253+5014_253+5022dup) c.254-12_254-4dup (n.254-12_254-4dup) n.284+5014_284+5022dup c.254-182_254-174dup (n.254-182_254-174dup) c.254-18_254-10dup (n.254-18_254-10dup) n.270+5014_270+5022dup n.250+5014_250+5022dup c.125+5014_125+5022dup c.234+5014_234+5022dup n.258+5014_258+5022dup n.754+5014_754+5022dup n.295+5014_295+5022dup | gnomAD v4 |
15 | g.72370699_72370708dup | CA971336728 | HEXA | n.266+5013_266+5022dup c.253+5013_253+5022dup (n.253+5013_253+5022dup) c.254-13_254-4dup (n.254-13_254-4dup) n.284+5013_284+5022dup c.254-183_254-174dup (n.254-183_254-174dup) c.254-19_254-10dup (n.254-19_254-10dup) n.270+5013_270+5022dup n.250+5013_250+5022dup c.125+5013_125+5022dup c.234+5013_234+5022dup n.258+5013_258+5022dup n.754+5013_754+5022dup n.295+5013_295+5022dup | gnomAD v3 gnomAD v4 |
15 | g.72370698_72370708dup | CA971336696 | HEXA | n.266+5012_266+5022dup c.253+5012_253+5022dup (n.253+5012_253+5022dup) c.254-14_254-4dup (n.254-14_254-4dup) n.284+5012_284+5022dup c.254-184_254-174dup (n.254-184_254-174dup) c.254-20_254-10dup (n.254-20_254-10dup) n.270+5012_270+5022dup n.250+5012_250+5022dup c.125+5012_125+5022dup c.234+5012_234+5022dup n.258+5012_258+5022dup n.754+5012_754+5022dup n.295+5012_295+5022dup | gnomAD v3 gnomAD v4 |
15 | g.72370708del | CA971336719 | HEXA | n.266+5022del c.253+5022del (n.253+5022del) c.254-4del (n.254-4del) n.284+5022del c.254-174del (n.254-174del) c.254-10del (n.254-10del) n.270+5022del n.250+5022del c.125+5022del c.234+5022del n.258+5022del n.754+5022del n.295+5022del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370707_72370708del | CA2629342345 | HEXA | n.266+5021_266+5022del c.253+5021_253+5022del (n.253+5021_253+5022del) c.254-5_254-4del (n.254-5_254-4del) n.284+5021_284+5022del c.254-175_254-174del (n.254-175_254-174del) c.254-11_254-10del (n.254-11_254-10del) n.270+5021_270+5022del n.250+5021_250+5022del c.125+5021_125+5022del c.234+5021_234+5022del n.258+5021_258+5022del n.754+5021_754+5022del n.295+5021_295+5022del | gnomAD v4 |
15 | g.72370706_72370708del | CA2629342350 | HEXA | n.266+5020_266+5022del c.253+5020_253+5022del (n.253+5020_253+5022del) c.254-6_254-4del (n.254-6_254-4del) n.284+5020_284+5022del c.254-176_254-174del (n.254-176_254-174del) c.254-12_254-10del (n.254-12_254-10del) n.270+5020_270+5022del n.250+5020_250+5022del c.125+5020_125+5022del c.234+5020_234+5022del n.258+5020_258+5022del n.754+5020_754+5022del n.295+5020_295+5022del | gnomAD v4 |
15 | g.72370712_72370713insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA | CA971336688 | HEXA | n.266+5022_266+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT c.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT (n.253+5022_253+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT) c.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT (n.254-4_254-3insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT) n.284+5022_284+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT c.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT (n.254-174_254-173insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT) c.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT (n.254-10_254-9insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT) n.270+5022_270+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT n.250+5022_250+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT c.125+5022_125+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT c.234+5022_234+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT n.258+5022_258+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT n.754+5022_754+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT n.295+5022_295+5023insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
15 | g.72370701_72370712dup | CA272627084 | HEXA | n.266+5011_266+5022dup c.253+5011_253+5022dup (n.253+5011_253+5022dup) c.254-15_254-4dup (n.254-15_254-4dup) n.284+5011_284+5022dup c.254-185_254-174dup (n.254-185_254-174dup) c.254-21_254-10dup (n.254-21_254-10dup) n.270+5011_270+5022dup n.250+5011_250+5022dup c.125+5011_125+5022dup c.234+5011_234+5022dup n.258+5011_258+5022dup n.754+5011_754+5022dup n.295+5011_295+5022dup | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370700_72370712dup | CA715476748 | HEXA | n.266+5010_266+5022dup c.253+5010_253+5022dup (n.253+5010_253+5022dup) c.254-16_254-4dup (n.254-16_254-4dup) n.284+5010_284+5022dup c.254-186_254-174dup (n.254-186_254-174dup) c.254-22_254-10dup (n.254-22_254-10dup) n.270+5010_270+5022dup n.250+5010_250+5022dup c.125+5010_125+5022dup c.234+5010_234+5022dup n.258+5010_258+5022dup n.754+5010_754+5022dup n.295+5010_295+5022dup | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72370699_72370712dup | CA2629342253 | HEXA | n.266+5009_266+5022dup c.253+5009_253+5022dup (n.253+5009_253+5022dup) c.254-17_254-4dup (n.254-17_254-4dup) n.284+5009_284+5022dup c.254-187_254-174dup (n.254-187_254-174dup) c.254-23_254-10dup (n.254-23_254-10dup) n.270+5009_270+5022dup n.250+5009_250+5022dup c.125+5009_125+5022dup c.234+5009_234+5022dup n.258+5009_258+5022dup n.754+5009_754+5022dup n.295+5009_295+5022dup | gnomAD v4 |
15 | g.72370706_72370707insGAAAAAAAA | CA2629342469 | HEXA | n.266+5021_266+5022insCTTTTTTTT c.253+5021_253+5022insCTTTTTTTT (n.253+5021_253+5022insCTTTTTTTT) c.254-5_254-4insCTTTTTTTT (n.254-5_254-4insCTTTTTTTT) n.284+5021_284+5022insCTTTTTTTT c.254-175_254-174insCTTTTTTTT (n.254-175_254-174insCTTTTTTTT) c.254-11_254-10insCTTTTTTTT (n.254-11_254-10insCTTTTTTTT) n.270+5021_270+5022insCTTTTTTTT n.250+5021_250+5022insCTTTTTTTT c.125+5021_125+5022insCTTTTTTTT c.234+5021_234+5022insCTTTTTTTT n.258+5021_258+5022insCTTTTTTTT n.754+5021_754+5022insCTTTTTTTT n.295+5021_295+5022insCTTTTTTTT | gnomAD v4 |
15 | g.72370707_72370708insGAAAAAAAAA | CA2629342490 | HEXA | n.266+5021_266+5022insCTTTTTTTTT c.253+5021_253+5022insCTTTTTTTTT (n.253+5021_253+5022insCTTTTTTTTT) c.254-5_254-4insCTTTTTTTTT (n.254-5_254-4insCTTTTTTTTT) n.284+5021_284+5022insCTTTTTTTTT c.254-175_254-174insCTTTTTTTTT (n.254-175_254-174insCTTTTTTTTT) c.254-11_254-10insCTTTTTTTTT (n.254-11_254-10insCTTTTTTTTT) n.270+5021_270+5022insCTTTTTTTTT n.250+5021_250+5022insCTTTTTTTTT c.125+5021_125+5022insCTTTTTTTTT c.234+5021_234+5022insCTTTTTTTTT n.258+5021_258+5022insCTTTTTTTTT n.754+5021_754+5022insCTTTTTTTTT n.295+5021_295+5022insCTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insACAAAAAAAAAA | CA2629342495 | HEXA | n.266+5021_266+5022insGTTTTTTTTTTT c.253+5021_253+5022insGTTTTTTTTTTT (n.253+5021_253+5022insGTTTTTTTTTTT) c.254-5_254-4insGTTTTTTTTTTT (n.254-5_254-4insGTTTTTTTTTTT) n.284+5021_284+5022insGTTTTTTTTTTT c.254-175_254-174insGTTTTTTTTTTT (n.254-175_254-174insGTTTTTTTTTTT) c.254-11_254-10insGTTTTTTTTTTT (n.254-11_254-10insGTTTTTTTTTTT) n.270+5021_270+5022insGTTTTTTTTTTT n.250+5021_250+5022insGTTTTTTTTTTT c.125+5021_125+5022insGTTTTTTTTTTT c.234+5021_234+5022insGTTTTTTTTTTT n.258+5021_258+5022insGTTTTTTTTTTT n.754+5021_754+5022insGTTTTTTTTTTT n.295+5021_295+5022insGTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAAA | CA491132651 | HEXA | n.266+5021_266+5022insCTTTTTTTTTTT c.253+5021_253+5022insCTTTTTTTTTTT (n.253+5021_253+5022insCTTTTTTTTTTT) c.254-5_254-4insCTTTTTTTTTTT (n.254-5_254-4insCTTTTTTTTTTT) n.284+5021_284+5022insCTTTTTTTTTTT c.254-175_254-174insCTTTTTTTTTTT (n.254-175_254-174insCTTTTTTTTTTT) c.254-11_254-10insCTTTTTTTTTTT (n.254-11_254-10insCTTTTTTTTTTT) n.270+5021_270+5022insCTTTTTTTTTTT n.250+5021_250+5022insCTTTTTTTTTTT c.125+5021_125+5022insCTTTTTTTTTTT c.234+5021_234+5022insCTTTTTTTTTTT n.258+5021_258+5022insCTTTTTTTTTTT n.754+5021_754+5022insCTTTTTTTTTTT n.295+5021_295+5022insCTTTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAGAAAAAAAAAA | CA618769309 | HEXA | n.266+5021_266+5022insCTTTTTTTTTTTT c.253+5021_253+5022insCTTTTTTTTTTTT (n.253+5021_253+5022insCTTTTTTTTTTTT) c.254-5_254-4insCTTTTTTTTTTTT (n.254-5_254-4insCTTTTTTTTTTTT) n.284+5021_284+5022insCTTTTTTTTTTTT c.254-175_254-174insCTTTTTTTTTTTT (n.254-175_254-174insCTTTTTTTTTTTT) c.254-11_254-10insCTTTTTTTTTTTT (n.254-11_254-10insCTTTTTTTTTTTT) n.270+5021_270+5022insCTTTTTTTTTTTT n.250+5021_250+5022insCTTTTTTTTTTTT c.125+5021_125+5022insCTTTTTTTTTTTT c.234+5021_234+5022insCTTTTTTTTTTTT n.258+5021_258+5022insCTTTTTTTTTTTT n.754+5021_754+5022insCTTTTTTTTTTTT n.295+5021_295+5022insCTTTTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAGGAAAAAAAAAA | CA2629342466 | HEXA | n.266+5021_266+5022insCCTTTTTTTTTTT c.253+5021_253+5022insCCTTTTTTTTTTT (n.253+5021_253+5022insCCTTTTTTTTTTT) c.254-5_254-4insCCTTTTTTTTTTT (n.254-5_254-4insCCTTTTTTTTTTT) n.284+5021_284+5022insCCTTTTTTTTTTT c.254-175_254-174insCCTTTTTTTTTTT (n.254-175_254-174insCCTTTTTTTTTTT) c.254-11_254-10insCCTTTTTTTTTTT (n.254-11_254-10insCCTTTTTTTTTTT) n.270+5021_270+5022insCCTTTTTTTTTTT n.250+5021_250+5022insCCTTTTTTTTTTT c.125+5021_125+5022insCCTTTTTTTTTTT c.234+5021_234+5022insCCTTTTTTTTTTT n.258+5021_258+5022insCCTTTTTTTTTTT n.754+5021_754+5022insCCTTTTTTTTTTT n.295+5021_295+5022insCCTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insTAGAAAAAAAAAA | CA2186756562 | HEXA | n.266+5021_266+5022insCTATTTTTTTTTT c.253+5021_253+5022insCTATTTTTTTTTT (n.253+5021_253+5022insCTATTTTTTTTTT) c.254-5_254-4insCTATTTTTTTTTT (n.254-5_254-4insCTATTTTTTTTTT) n.284+5021_284+5022insCTATTTTTTTTTT c.254-175_254-174insCTATTTTTTTTTT (n.254-175_254-174insCTATTTTTTTTTT) c.254-11_254-10insCTATTTTTTTTTT (n.254-11_254-10insCTATTTTTTTTTT) n.270+5021_270+5022insCTATTTTTTTTTT n.250+5021_250+5022insCTATTTTTTTTTT c.125+5021_125+5022insCTATTTTTTTTTT c.234+5021_234+5022insCTATTTTTTTTTT n.258+5021_258+5022insCTATTTTTTTTTT n.754+5021_754+5022insCTATTTTTTTTTT n.295+5021_295+5022insCTATTTTTTTTTT | dbSNP |
15 | g.72370708_72370709insAAAGAAAAAAAAAA | CA618769307 | HEXA | n.266+5021_266+5022insCTTTTTTTTTTTTT c.253+5021_253+5022insCTTTTTTTTTTTTT (n.253+5021_253+5022insCTTTTTTTTTTTTT) c.254-5_254-4insCTTTTTTTTTTTTT (n.254-5_254-4insCTTTTTTTTTTTTT) n.284+5021_284+5022insCTTTTTTTTTTTTT c.254-175_254-174insCTTTTTTTTTTTTT (n.254-175_254-174insCTTTTTTTTTTTTT) c.254-11_254-10insCTTTTTTTTTTTTT (n.254-11_254-10insCTTTTTTTTTTTTT) n.270+5021_270+5022insCTTTTTTTTTTTTT n.250+5021_250+5022insCTTTTTTTTTTTTT c.125+5021_125+5022insCTTTTTTTTTTTTT c.234+5021_234+5022insCTTTTTTTTTTTTT n.258+5021_258+5022insCTTTTTTTTTTTTT n.754+5021_754+5022insCTTTTTTTTTTTTT n.295+5021_295+5022insCTTTTTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370708_72370709insAAAAGAAAAAAAAAA | CA2629342498 | HEXA | n.266+5021_266+5022insCTTTTTTTTTTTTTT c.253+5021_253+5022insCTTTTTTTTTTTTTT (n.253+5021_253+5022insCTTTTTTTTTTTTTT) c.254-5_254-4insCTTTTTTTTTTTTTT (n.254-5_254-4insCTTTTTTTTTTTTTT) n.284+5021_284+5022insCTTTTTTTTTTTTTT c.254-175_254-174insCTTTTTTTTTTTTTT (n.254-175_254-174insCTTTTTTTTTTTTTT) c.254-11_254-10insCTTTTTTTTTTTTTT (n.254-11_254-10insCTTTTTTTTTTTTTT) n.270+5021_270+5022insCTTTTTTTTTTTTTT n.250+5021_250+5022insCTTTTTTTTTTTTTT c.125+5021_125+5022insCTTTTTTTTTTTTTT c.234+5021_234+5022insCTTTTTTTTTTTTTT n.258+5021_258+5022insCTTTTTTTTTTTTTT n.754+5021_754+5022insCTTTTTTTTTTTTTT n.295+5021_295+5022insCTTTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370709_72370710insGAAAAAAAAAAG | CA2629342492 | HEXA | n.266+5021_266+5022insCCTTTTTTTTTT c.253+5021_253+5022insCCTTTTTTTTTT (n.253+5021_253+5022insCCTTTTTTTTTT) c.254-5_254-4insCCTTTTTTTTTT (n.254-5_254-4insCCTTTTTTTTTT) n.284+5021_284+5022insCCTTTTTTTTTT c.254-175_254-174insCCTTTTTTTTTT (n.254-175_254-174insCCTTTTTTTTTT) c.254-11_254-10insCCTTTTTTTTTT (n.254-11_254-10insCCTTTTTTTTTT) n.270+5021_270+5022insCCTTTTTTTTTT n.250+5021_250+5022insCCTTTTTTTTTT c.125+5021_125+5022insCCTTTTTTTTTT c.234+5021_234+5022insCCTTTTTTTTTT n.258+5021_258+5022insCCTTTTTTTTTT n.754+5021_754+5022insCCTTTTTTTTTT n.295+5021_295+5022insCCTTTTTTTTTT | gnomAD v4 |
15 | g.72370702_72370712dup | CA618769311 | HEXA | n.266+5011_266+5021dup c.253+5011_253+5021dup (n.253+5011_253+5021dup) c.254-15_254-5dup (n.254-15_254-5dup) n.284+5011_284+5021dup c.254-185_254-175dup (n.254-185_254-175dup) c.254-21_254-11dup (n.254-21_254-11dup) n.270+5011_270+5021dup n.250+5011_250+5021dup c.125+5011_125+5021dup c.234+5011_234+5021dup n.258+5011_258+5021dup n.754+5011_754+5021dup n.295+5011_295+5021dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370707_72370708insGAAAAAAAA | CA2629342511 | HEXA | n.266+5020_266+5021insCTTTTTTTT c.253+5020_253+5021insCTTTTTTTT (n.253+5020_253+5021insCTTTTTTTT) c.254-6_254-5insCTTTTTTTT (n.254-6_254-5insCTTTTTTTT) n.284+5020_284+5021insCTTTTTTTT c.254-176_254-175insCTTTTTTTT (n.254-176_254-175insCTTTTTTTT) c.254-12_254-11insCTTTTTTTT (n.254-12_254-11insCTTTTTTTT) n.270+5020_270+5021insCTTTTTTTT n.250+5020_250+5021insCTTTTTTTT c.125+5020_125+5021insCTTTTTTTT c.234+5020_234+5021insCTTTTTTTT n.258+5020_258+5021insCTTTTTTTT n.754+5020_754+5021insCTTTTTTTT n.295+5020_295+5021insCTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAGAAAAAAAAA | CA2525759141 | HEXA | n.266+5020_266+5021insCTTTTTTTTTT c.253+5020_253+5021insCTTTTTTTTTT (n.253+5020_253+5021insCTTTTTTTTTT) c.254-6_254-5insCTTTTTTTTTT (n.254-6_254-5insCTTTTTTTTTT) n.284+5020_284+5021insCTTTTTTTTTT c.254-176_254-175insCTTTTTTTTTT (n.254-176_254-175insCTTTTTTTTTT) c.254-12_254-11insCTTTTTTTTTT (n.254-12_254-11insCTTTTTTTTTT) n.270+5020_270+5021insCTTTTTTTTTT n.250+5020_250+5021insCTTTTTTTTTT c.125+5020_125+5021insCTTTTTTTTTT c.234+5020_234+5021insCTTTTTTTTTT n.258+5020_258+5021insCTTTTTTTTTT n.754+5020_754+5021insCTTTTTTTTTT n.295+5020_295+5021insCTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAGAAAAAAAAA | CA2629342509 | HEXA | n.266+5020_266+5021insCTTTTTTTTTTT c.253+5020_253+5021insCTTTTTTTTTTT (n.253+5020_253+5021insCTTTTTTTTTTT) c.254-6_254-5insCTTTTTTTTTTT (n.254-6_254-5insCTTTTTTTTTTT) n.284+5020_284+5021insCTTTTTTTTTTT c.254-176_254-175insCTTTTTTTTTTT (n.254-176_254-175insCTTTTTTTTTTT) c.254-12_254-11insCTTTTTTTTTTT (n.254-12_254-11insCTTTTTTTTTTT) n.270+5020_270+5021insCTTTTTTTTTTT n.250+5020_250+5021insCTTTTTTTTTTT c.125+5020_125+5021insCTTTTTTTTTTT c.234+5020_234+5021insCTTTTTTTTTTT n.258+5020_258+5021insCTTTTTTTTTTT n.754+5020_754+5021insCTTTTTTTTTTT n.295+5020_295+5021insCTTTTTTTTTTT | gnomAD v4 |
15 | g.72370708_72370709insAAAGAAAAAAAAA | CA2530548529 | HEXA | n.266+5020_266+5021insCTTTTTTTTTTTT c.253+5020_253+5021insCTTTTTTTTTTTT (n.253+5020_253+5021insCTTTTTTTTTTTT) c.254-6_254-5insCTTTTTTTTTTTT (n.254-6_254-5insCTTTTTTTTTTTT) n.284+5020_284+5021insCTTTTTTTTTTTT c.254-176_254-175insCTTTTTTTTTTTT (n.254-176_254-175insCTTTTTTTTTTTT) c.254-12_254-11insCTTTTTTTTTTTT (n.254-12_254-11insCTTTTTTTTTTTT) n.270+5020_270+5021insCTTTTTTTTTTTT n.250+5020_250+5021insCTTTTTTTTTTTT c.125+5020_125+5021insCTTTTTTTTTTTT c.234+5020_234+5021insCTTTTTTTTTTTT n.258+5020_258+5021insCTTTTTTTTTTTT n.754+5020_754+5021insCTTTTTTTTTTTT n.295+5020_295+5021insCTTTTTTTTTTTT | gnomAD v4 |
15 | g.72370703_72370712dup | CA618769312 | HEXA | n.266+5011_266+5020dup c.253+5011_253+5020dup (n.253+5011_253+5020dup) c.254-15_254-6dup (n.254-15_254-6dup) n.284+5011_284+5020dup c.254-185_254-176dup (n.254-185_254-176dup) c.254-21_254-12dup (n.254-21_254-12dup) n.270+5011_270+5020dup n.250+5011_250+5020dup c.125+5011_125+5020dup c.234+5011_234+5020dup n.258+5011_258+5020dup n.754+5011_754+5020dup n.295+5011_295+5020dup | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370701A= | CA2186756563 | HEXA | n.266+5019T= c.253+5019T= (n.253+5019T=) c.254-7T= (n.254-7T=) n.284+5019T= c.254-177T= (n.254-177T=) c.254-13T= (n.254-13T=) n.270+5019T= n.250+5019T= c.125+5019T= c.234+5019T= n.258+5019T= n.754+5019T= n.295+5019T= | |
15 | g.72370702A= | CA2186756565 | HEXA | n.266+5018T= c.253+5018T= (n.253+5018T=) c.254-8T= (n.254-8T=) n.284+5018T= c.254-178T= (n.254-178T=) c.254-14T= (n.254-14T=) n.270+5018T= n.250+5018T= c.125+5018T= c.234+5018T= n.258+5018T= n.754+5018T= n.295+5018T= | |
15 | g.72370708_72370709insAGAAAAAAA | CA715476783 | HEXA | n.266+5018_266+5019insCTTTTTTTT c.253+5018_253+5019insCTTTTTTTT (n.253+5018_253+5019insCTTTTTTTT) c.254-8_254-7insCTTTTTTTT (n.254-8_254-7insCTTTTTTTT) n.284+5018_284+5019insCTTTTTTTT c.254-178_254-177insCTTTTTTTT (n.254-178_254-177insCTTTTTTTT) c.254-14_254-13insCTTTTTTTT (n.254-14_254-13insCTTTTTTTT) n.270+5018_270+5019insCTTTTTTTT n.250+5018_250+5019insCTTTTTTTT c.125+5018_125+5019insCTTTTTTTT c.234+5018_234+5019insCTTTTTTTT n.258+5018_258+5019insCTTTTTTTT n.754+5018_754+5019insCTTTTTTTT n.295+5018_295+5019insCTTTTTTTT | dbSNP |
15 | g.72370703A= | CA2186756567 | HEXA | n.266+5017T= c.253+5017T= (n.253+5017T=) c.254-9T= (n.254-9T=) n.284+5017T= c.254-179T= (n.254-179T=) c.254-15T= (n.254-15T=) n.270+5017T= n.250+5017T= c.125+5017T= c.234+5017T= n.258+5017T= n.754+5017T= n.295+5017T= | |
15 | g.72370703A>G | CA2186756568 | HEXA | n.266+5017T>C c.253+5017T>C (n.253+5017T>C) c.254-9T>C (n.254-9T>C) n.284+5017T>C c.254-179T>C (n.254-179T>C) c.254-15T>C (n.254-15T>C) n.270+5017T>C n.250+5017T>C c.125+5017T>C c.234+5017T>C n.258+5017T>C n.754+5017T>C n.295+5017T>C | dbSNP |
15 | g.72370708_72370709insAGAAAAGAAAAAA | CA2186756566 | HEXA | n.266+5017_266+5018insCTTTTCTTTTTTT c.253+5017_253+5018insCTTTTCTTTTTTT (n.253+5017_253+5018insCTTTTCTTTTTTT) c.254-9_254-8insCTTTTCTTTTTTT (n.254-9_254-8insCTTTTCTTTTTTT) n.284+5017_284+5018insCTTTTCTTTTTTT c.254-179_254-178insCTTTTCTTTTTTT (n.254-179_254-178insCTTTTCTTTTTTT) c.254-15_254-14insCTTTTCTTTTTTT (n.254-15_254-14insCTTTTCTTTTTTT) n.270+5017_270+5018insCTTTTCTTTTTTT n.250+5017_250+5018insCTTTTCTTTTTTT c.125+5017_125+5018insCTTTTCTTTTTTT c.234+5017_234+5018insCTTTTCTTTTTTT n.258+5017_258+5018insCTTTTCTTTTTTT n.754+5017_754+5018insCTTTTCTTTTTTT n.295+5017_295+5018insCTTTTCTTTTTTT | dbSNP |
15 | g.72370704A>G | CA2804697587 | HEXA | n.266+5016T>C c.253+5016T>C (n.253+5016T>C) c.254-10T>C (n.254-10T>C) n.284+5016T>C c.254-180T>C (n.254-180T>C) c.254-16T>C (n.254-16T>C) n.270+5016T>C n.250+5016T>C c.125+5016T>C c.234+5016T>C n.258+5016T>C n.754+5016T>C n.295+5016T>C | |
15 | g.72370708_72370709insAGAAAAAGAAAAA | CA715476784 | HEXA | n.266+5016_266+5017insCTTTTTCTTTTTT c.253+5016_253+5017insCTTTTTCTTTTTT (n.253+5016_253+5017insCTTTTTCTTTTTT) c.254-10_254-9insCTTTTTCTTTTTT (n.254-10_254-9insCTTTTTCTTTTTT) n.284+5016_284+5017insCTTTTTCTTTTTT c.254-180_254-179insCTTTTTCTTTTTT (n.254-180_254-179insCTTTTTCTTTTTT) c.254-16_254-15insCTTTTTCTTTTTT (n.254-16_254-15insCTTTTTCTTTTTT) n.270+5016_270+5017insCTTTTTCTTTTTT n.250+5016_250+5017insCTTTTTCTTTTTT c.125+5016_125+5017insCTTTTTCTTTTTT c.234+5016_234+5017insCTTTTTCTTTTTT n.258+5016_258+5017insCTTTTTCTTTTTT n.754+5016_754+5017insCTTTTTCTTTTTT n.295+5016_295+5017insCTTTTTCTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72370712_72370713insAAGAAAAAGAAA | CA2532817644 | HEXA | n.266+5016_266+5017insCTTTTTCTTTTT c.253+5016_253+5017insCTTTTTCTTTTT (n.253+5016_253+5017insCTTTTTCTTTTT) c.254-10_254-9insCTTTTTCTTTTT (n.254-10_254-9insCTTTTTCTTTTT) n.284+5016_284+5017insCTTTTTCTTTTT c.254-180_254-179insCTTTTTCTTTTT (n.254-180_254-179insCTTTTTCTTTTT) c.254-16_254-15insCTTTTTCTTTTT (n.254-16_254-15insCTTTTTCTTTTT) n.270+5016_270+5017insCTTTTTCTTTTT n.250+5016_250+5017insCTTTTTCTTTTT c.125+5016_125+5017insCTTTTTCTTTTT c.234+5016_234+5017insCTTTTTCTTTTT n.258+5016_258+5017insCTTTTTCTTTTT n.754+5016_754+5017insCTTTTTCTTTTT n.295+5016_295+5017insCTTTTTCTTTTT | |
15 | g.72370708_72370717del | CA2804697586 | HEXA | n.266+5007_266+5016del c.253+5007_253+5016del (n.253+5007_253+5016del) c.254-19_254-10del (n.254-19_254-10del) n.284+5007_284+5016del c.254-189_254-180del (n.254-189_254-180del) c.254-25_254-16del (n.254-25_254-16del) n.270+5007_270+5016del n.250+5007_250+5016del c.125+5007_125+5016del c.234+5007_234+5016del n.258+5007_258+5016del n.754+5007_754+5016del n.295+5007_295+5016del |