Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.22047150_22048047delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAACA2419152378PHEXn.714_775+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA
n.544+14027_544+14924delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA
c.288_349+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA
c.-4_58+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA
n.967_1028+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA
Xg.22047151_22048047delinsAAGATATGCCTCA1139667280PHEXn.715_775+836delinsAAGATATGCCT
n.544+14028_544+14924delinsAAGATATGCCT
c.289_349+836delinsAAGATATGCCT
c.-3_58+836delinsAAGATATGCCT
n.968_1028+836delinsAAGATATGCCT
 ClinVar dbSNP
Xg.22047187_22047188dupCA2695231446PHEXn.751_752dup
n.544+14064_544+14065dup
c.325_326dup (p.Asn110IlefsTer7)
c.-118_-117dup (n.-118_-117dup)
c.34_35dup (p.Asn13IlefsTer7)
n.1004_1005dup
Xg.22047188A>CCA412568062PHEXn.752A>C
n.544+14065A>C
c.326A>C (p.His109Pro)
c.-117A>C (n.-117A>C)
c.35A>C (p.His12Pro)
n.1005A>C
Xg.22047188A>GCA412568060PHEXn.752A>G
n.544+14065A>G
c.326A>G (p.His109Arg)
c.-117A>G (n.-117A>G)
c.35A>G (p.His12Arg)
n.1005A>G
 gnomAD v4
Xg.22047188A>TCA412568059PHEXn.752A>T
n.544+14065A>T
c.326A>T (p.His109Leu)
c.-117A>T (n.-117A>T)
c.35A>T (p.His12Leu)
n.1005A>T
Xg.22047190_22047192delCA2580100474PHEXn.754_756del
n.544+14067_544+14069del
c.328_330del (p.Asn110del)
c.-115_-113del (n.-115_-113del)
c.37_39del (p.Asn13del)
n.1007_1009del
 ClinVar
Xg.22047189delCA2695231447PHEXn.753del
n.544+14066del
c.327del (p.His109GlnfsTer7)
c.-116del (n.-116del)
c.36del (p.His12GlnfsTer7)
n.1006del
Xg.22047189T>ACA412568064PHEXn.753T>A
n.544+14066T>A
c.327T>A (p.His109Gln)
c.-116T>A (n.-116T>A)
c.36T>A (p.His12Gln)
n.1006T>A
Xg.22047189T>CCA515425022PHEXn.753T>C
n.544+14066T>C
c.327T>C (p.His109=)
c.-116T>C (n.-116T>C)
c.36T>C (p.His12=)
n.1006T>C
Xg.22047189T>GCA412568066PHEXn.753T>G
n.544+14066T>G
c.327T>G (p.His109Gln)
c.-116T>G (n.-116T>G)
c.36T>G (p.His12Gln)
n.1006T>G
Xg.22047190A>CCA412568068PHEXn.754A>C
n.544+14067A>C
c.328A>C (p.Asn110His)
c.-115A>C (n.-115A>C)
c.37A>C (p.Asn13His)
n.1007A>C
Xg.22047190A>GCA412568070PHEXn.754A>G
n.544+14067A>G
c.328A>G (p.Asn110Asp)
c.-115A>G (n.-115A>G)
c.37A>G (p.Asn13Asp)
n.1007A>G
Xg.22047190A>TCA412568072PHEXn.754A>T
n.544+14067A>T
c.328A>T (p.Asn110Tyr)
c.-115A>T (n.-115A>T)
c.37A>T (p.Asn13Tyr)
n.1007A>T
Xg.22047191dupCA2740092060PHEXn.755dup
n.544+14068dup
c.329dup (p.Asn110LysfsTer3)
c.-114dup (n.-114dup)
c.38dup (p.Asn13LysfsTer3)
n.1008dup
 ClinVar
Xg.22047191A>CCA412568074PHEXn.755A>C
n.544+14068A>C
c.329A>C (p.Asn110Thr)
c.-114A>C (n.-114A>C)
c.38A>C (p.Asn13Thr)
n.1008A>C
Xg.22047191A>GCA412568076PHEXn.755A>G
n.544+14068A>G
c.329A>G (p.Asn110Ser)
c.-114A>G (n.-114A>G)
c.38A>G (p.Asn13Ser)
n.1008A>G
 gnomAD v4
Xg.22047191A>TCA412568078PHEXn.755A>T
n.544+14068A>T
c.329A>T (p.Asn110Ile)
c.-114A>T (n.-114A>T)
c.38A>T (p.Asn13Ile)
n.1008A>T
Xg.22047191_22047194delinsATGTCA2419152395PHEXn.755_758delinsATGT
n.544+14068_544+14071delinsATGT
c.329_332delinsATGT (p.Asn110=)
c.-114_-111delinsATGT (n.-114_-111delinsATGT)
c.38_41delinsATGT (p.Asn13=)
n.1008_1011delinsATGT
Xg.22047192T>ACA412568080PHEXn.756T>A
n.544+14069T>A
c.330T>A (p.Asn110Lys)
c.-113T>A (n.-113T>A)
c.39T>A (p.Asn13Lys)
n.1009T>A
Xg.22047192T>CCA515425032PHEXn.756T>C
n.544+14069T>C
c.330T>C (p.Asn110=)
c.-113T>C (n.-113T>C)
c.39T>C (p.Asn13=)
n.1009T>C
 gnomAD v4
Xg.22047192T>GCA412568082PHEXn.756T>G
n.544+14069T>G
c.330T>G (p.Asn110Lys)
c.-113T>G (n.-113T>G)
c.39T>G (p.Asn13Lys)
n.1009T>G
Xg.22047194_22047196delCA16621307PHEXn.758_760del
n.544+14071_544+14073del
c.332_334del (p.Val111del)
c.-111_-109del (n.-111_-109del)
c.41_43del (p.Val14del)
n.1011_1013del
 ClinVar dbSNP
Xg.22047193G>ACA412568084PHEXn.757G>A
n.544+14070G>A
c.331G>A (p.Val111Ile)
c.-112G>A (n.-112G>A)
c.40G>A (p.Val14Ile)
n.1010G>A
Xg.22047193G>CCA412568086PHEXn.757G>C
n.544+14070G>C
c.331G>C (p.Val111Leu)
c.-112G>C (n.-112G>C)
c.40G>C (p.Val14Leu)
n.1010G>C
Xg.22047193G>TCA412568088PHEXn.757G>T
n.544+14070G>T
c.331G>T (p.Val111Phe)
c.-112G>T (n.-112G>T)
c.40G>T (p.Val14Phe)
n.1010G>T
Xg.22047194T>ACA412568091PHEXn.758T>A
n.544+14071T>A
c.332T>A (p.Val111Asp)
c.-111T>A (n.-111T>A)
c.41T>A (p.Val14Asp)
n.1011T>A
Xg.22047194T>CCA412568094PHEXn.758T>C
n.544+14071T>C
c.332T>C (p.Val111Ala)
c.-111T>C (n.-111T>C)
c.41T>C (p.Val14Ala)
n.1011T>C
 gnomAD v4
Xg.22047194T>GCA412568092PHEXn.758T>G
n.544+14071T>G
c.332T>G (p.Val111Gly)
c.-111T>G (n.-111T>G)
c.41T>G (p.Val14Gly)
n.1011T>G
Xg.22047195T>ACA515425044PHEXn.759T>A
n.544+14072T>A
c.333T>A (p.Val111=)
c.-110T>A (n.-110T>A)
c.42T>A (p.Val14=)
n.1012T>A
Xg.22047195T>CCA515425046PHEXn.759T>C
n.544+14072T>C
c.333T>C (p.Val111=)
c.-110T>C (n.-110T>C)
c.42T>C (p.Val14=)
n.1012T>C
Xg.22047195T>GCA515425048PHEXn.759T>G
n.544+14072T>G
c.333T>G (p.Val111=)
c.-110T>G (n.-110T>G)
c.42T>G (p.Val14=)
n.1012T>G
Xg.22047196G>ACA412568096PHEXn.760G>A
n.544+14073G>A
c.334G>A (p.Asp112Asn)
c.-109G>A (n.-109G>A)
c.43G>A (p.Asp15Asn)
n.1013G>A
Xg.22047196G>CCA412568098PHEXn.760G>C
n.544+14073G>C
c.334G>C (p.Asp112His)
c.-109G>C (n.-109G>C)
c.43G>C (p.Asp15His)
n.1013G>C
 gnomAD v4
Xg.22047196G>TCA412568100PHEXn.760G>T
n.544+14073G>T
c.334G>T (p.Asp112Tyr)
c.-109G>T (n.-109G>T)
c.43G>T (p.Asp15Tyr)
n.1013G>T
Xg.22047197A>CCA412568102PHEXn.761A>C
n.544+14074A>C
c.335A>C (p.Asp112Ala)
c.-108A>C (n.-108A>C)
c.44A>C (p.Asp15Ala)
n.1014A>C
Xg.22047197A>GCA412568104PHEXn.761A>G
n.544+14074A>G
c.335A>G (p.Asp112Gly)
c.-108A>G (n.-108A>G)
c.44A>G (p.Asp15Gly)
n.1014A>G
Xg.22047197A>TCA412568106PHEXn.761A>T
n.544+14074A>T
c.335A>T (p.Asp112Val)
c.-108A>T (n.-108A>T)
c.44A>T (p.Asp15Val)
n.1014A>T
Xg.22047198C>ACA412568108PHEXn.762C>A
n.544+14075C>A
c.336C>A (p.Asp112Glu)
c.-107C>A (n.-107C>A)
c.45C>A (p.Asp15Glu)
n.1015C>A
Xg.22047198C>GCA412568110PHEXn.762C>G
n.544+14075C>G
c.336C>G (p.Asp112Glu)
c.-107C>G (n.-107C>G)
c.45C>G (p.Asp15Glu)
n.1015C>G
Xg.22047198C>TCA515425058PHEXn.762C>T
n.544+14075C>T
c.336C>T (p.Asp112=)
c.-107C>T (n.-107C>T)
c.45C>T (p.Asp15=)
n.1015C>T
 gnomAD v4
Xg.22047199C>ACA412568112PHEXn.763C>A
n.544+14076C>A
c.337C>A (p.Leu113Ile)
c.-106C>A (n.-106C>A)
c.46C>A (p.Leu16Ile)
n.1016C>A
Xg.22047199C>GCA412568115PHEXn.763C>G
n.544+14076C>G
c.337C>G (p.Leu113Val)
c.-106C>G (n.-106C>G)
c.46C>G (p.Leu16Val)
n.1016C>G
Xg.22047199C>TCA412568117PHEXn.763C>T
n.544+14076C>T
c.337C>T (p.Leu113Phe)
c.-106C>T (n.-106C>T)
c.46C>T (p.Leu16Phe)
n.1016C>T
Xg.22047200T>ACA412568121PHEXn.764T>A
n.544+14077T>A
c.338T>A (p.Leu113His)
c.-105T>A (n.-105T>A)
c.47T>A (p.Leu16His)
n.1017T>A
Xg.22047200T>CCA412568123PHEXn.764T>C
n.544+14077T>C
c.338T>C (p.Leu113Pro)
c.-105T>C (n.-105T>C)
c.47T>C (p.Leu16Pro)
n.1017T>C
Xg.22047200T>GCA412568119PHEXn.764T>G
n.544+14077T>G
c.338T>G (p.Leu113Arg)
c.-105T>G (n.-105T>G)
c.47T>G (p.Leu16Arg)
n.1017T>G
Xg.22047201C>ACA515425067PHEXn.765C>A
n.544+14078C>A
c.339C>A (p.Leu113=)
c.-104C>A (n.-104C>A)
c.48C>A (p.Leu16=)
n.1018C>A
Xg.22047201C>GCA515425069PHEXn.765C>G
n.544+14078C>G
c.339C>G (p.Leu113=)
c.-104C>G (n.-104C>G)
c.48C>G (p.Leu16=)
n.1018C>G
Xg.22047201C>TCA515425072PHEXn.765C>T
n.544+14078C>T
c.339C>T (p.Leu113=)
c.-104C>T (n.-104C>T)
c.48C>T (p.Leu16=)
n.1018C>T

Number of alleles fetched