Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.14765136delCA974971743NPIPA1,NPIPA2,NPIPA3c.833del (p.Asn278ThrfsTer3)
c.776del (p.Asn259ThrfsTer3)
c.63+14261del (n.63+14261del)
c.902-126del (n.902-126del)
n.168+1267del
c.920del (p.Asn307ThrfsTer3)
c.857del (p.Asn286ThrfsTer3)
c.788del (p.Asn263ThrfsTer3)
 gnomAD v3 gnomAD v4
16g.14765136A>CCA395196560NPIPA1,NPIPA2,NPIPA3c.833A>C (p.Asn278Thr)
c.776A>C (p.Asn259Thr)
c.63+14261A>C (n.63+14261A>C)
c.902-126A>C (n.902-126A>C)
n.168+1266T>G
c.920A>C (p.Asn307Thr)
c.857A>C (p.Asn286Thr)
c.788A>C (p.Asn263Thr)
16g.14765136A>GCA395196555NPIPA1,NPIPA2,NPIPA3c.833A>G (p.Asn278Ser)
c.776A>G (p.Asn259Ser)
c.63+14261A>G (n.63+14261A>G)
c.902-126A>G (n.902-126A>G)
n.168+1266T>C
c.920A>G (p.Asn307Ser)
c.857A>G (p.Asn286Ser)
c.788A>G (p.Asn263Ser)
16g.14765136A>TCA395196558NPIPA1,NPIPA2,NPIPA3c.833A>T (p.Asn278Ile)
c.776A>T (p.Asn259Ile)
c.63+14261A>T (n.63+14261A>T)
c.902-126A>T (n.902-126A>T)
n.168+1266T>A
c.920A>T (p.Asn307Ile)
c.857A>T (p.Asn286Ile)
c.788A>T (p.Asn263Ile)
16g.14765137C>ACA395196561NPIPA1,NPIPA2,NPIPA3c.834C>A (p.Asn278Lys)
c.777C>A (p.Asn259Lys)
c.63+14262C>A (n.63+14262C>A)
c.902-125C>A (n.902-125C>A)
n.168+1265G>T
c.921C>A (p.Asn307Lys)
c.858C>A (p.Asn286Lys)
c.789C>A (p.Asn263Lys)
16g.14765137C>GCA395196562NPIPA1,NPIPA2,NPIPA3c.834C>G (p.Asn278Lys)
c.777C>G (p.Asn259Lys)
c.63+14262C>G (n.63+14262C>G)
c.902-125C>G (n.902-125C>G)
n.168+1265G>C
c.921C>G (p.Asn307Lys)
c.858C>G (p.Asn286Lys)
c.789C>G (p.Asn263Lys)
 gnomAD v4
16g.14765137C>TCA494102310NPIPA1,NPIPA2,NPIPA3c.834C>T (p.Asn278=)
c.777C>T (p.Asn259=)
c.63+14262C>T (n.63+14262C>T)
c.902-125C>T (n.902-125C>T)
n.168+1265G>A
c.921C>T (p.Asn307=)
c.858C>T (p.Asn286=)
c.789C>T (p.Asn263=)
 gnomAD v4
16g.14765138T>ACA395196564NPIPA1,NPIPA2,NPIPA3c.835T>A (p.Ser279Thr)
c.778T>A (p.Ser260Thr)
c.63+14263T>A (n.63+14263T>A)
c.902-124T>A (n.902-124T>A)
n.168+1264A>T
c.922T>A (p.Ser308Thr)
c.859T>A (p.Ser287Thr)
c.790T>A (p.Ser264Thr)
 gnomAD v4
16g.14765138T>CCA395196566NPIPA1,NPIPA2,NPIPA3c.835T>C (p.Ser279Pro)
c.778T>C (p.Ser260Pro)
c.63+14263T>C (n.63+14263T>C)
c.902-124T>C (n.902-124T>C)
n.168+1264A>G
c.922T>C (p.Ser308Pro)
c.859T>C (p.Ser287Pro)
c.790T>C (p.Ser264Pro)
 dbSNP
16g.14765138T>GCA395196567NPIPA1,NPIPA2,NPIPA3c.835T>G (p.Ser279Ala)
c.778T>G (p.Ser260Ala)
c.63+14263T>G (n.63+14263T>G)
c.902-124T>G (n.902-124T>G)
n.168+1264A>C
c.922T>G (p.Ser308Ala)
c.859T>G (p.Ser287Ala)
c.790T>G (p.Ser264Ala)
16g.14765138T=CA2209437977NPIPA1,NPIPA2,NPIPA3c.835T= (p.Ser279=)
c.778T= (p.Ser260=)
c.63+14263T= (n.63+14263T=)
c.902-124T= (n.902-124T=)
n.168+1264A=
c.922T= (p.Ser308=)
c.859T= (p.Ser287=)
c.790T= (p.Ser264=)
16g.14765139C>ACA395196570NPIPA1,NPIPA2,NPIPA3c.836C>A (p.Ser279Tyr)
c.779C>A (p.Ser260Tyr)
c.63+14264C>A (n.63+14264C>A)
c.902-123C>A (n.902-123C>A)
n.168+1263G>T
c.923C>A (p.Ser308Tyr)
c.860C>A (p.Ser287Tyr)
c.791C>A (p.Ser264Tyr)
16g.14765139C=CA2209437978NPIPA1,NPIPA2,NPIPA3c.836C= (p.Ser279=)
c.779C= (p.Ser260=)
c.63+14264C= (n.63+14264C=)
c.902-123C= (n.902-123C=)
n.168+1263G=
c.923C= (p.Ser308=)
c.860C= (p.Ser287=)
c.791C= (p.Ser264=)
16g.14765139C>GCA395196573NPIPA1,NPIPA2,NPIPA3c.836C>G (p.Ser279Cys)
c.779C>G (p.Ser260Cys)
c.63+14264C>G (n.63+14264C>G)
c.902-123C>G (n.902-123C>G)
n.168+1263G>C
c.923C>G (p.Ser308Cys)
c.860C>G (p.Ser287Cys)
c.791C>G (p.Ser264Cys)
16g.14765139C>TCA395196576NPIPA1,NPIPA2,NPIPA3c.836C>T (p.Ser279Phe)
c.779C>T (p.Ser260Phe)
c.63+14264C>T (n.63+14264C>T)
c.902-123C>T (n.902-123C>T)
n.168+1263G>A
c.923C>T (p.Ser308Phe)
c.860C>T (p.Ser287Phe)
c.791C>T (p.Ser264Phe)
 dbSNP gnomAD v3 gnomAD v4
16g.14765140C>ACA494102314NPIPA1,NPIPA2,NPIPA3c.837C>A (p.Ser279=)
c.780C>A (p.Ser260=)
c.63+14265C>A (n.63+14265C>A)
c.902-122C>A (n.902-122C>A)
n.168+1262G>T
c.924C>A (p.Ser308=)
c.861C>A (p.Ser287=)
c.792C>A (p.Ser264=)
16g.14765140C>GCA494102316NPIPA1,NPIPA2,NPIPA3c.837C>G (p.Ser279=)
c.780C>G (p.Ser260=)
c.63+14265C>G (n.63+14265C>G)
c.902-122C>G (n.902-122C>G)
n.168+1262G>C
c.924C>G (p.Ser308=)
c.861C>G (p.Ser287=)
c.792C>G (p.Ser264=)
16g.14765140C>TCA494102315NPIPA1,NPIPA2,NPIPA3c.837C>T (p.Ser279=)
c.780C>T (p.Ser260=)
c.63+14265C>T (n.63+14265C>T)
c.902-122C>T (n.902-122C>T)
n.168+1262G>A
c.924C>T (p.Ser308=)
c.861C>T (p.Ser287=)
c.792C>T (p.Ser264=)
 gnomAD v4
16g.14765141C>ACA395196577NPIPA1,NPIPA2,NPIPA3c.838C>A (p.Leu280Met)
c.781C>A (p.Leu261Met)
c.63+14266C>A (n.63+14266C>A)
c.902-121C>A (n.902-121C>A)
n.168+1261G>T
c.925C>A (p.Leu309Met)
c.862C>A (p.Leu288Met)
c.793C>A (p.Leu265Met)
16g.14765141C=CA2209437979NPIPA1,NPIPA2,NPIPA3c.838C= (p.Leu280=)
c.781C= (p.Leu261=)
c.63+14266C= (n.63+14266C=)
c.902-121C= (n.902-121C=)
n.168+1261G=
c.925C= (p.Leu309=)
c.862C= (p.Leu288=)
c.793C= (p.Leu265=)
16g.14765141C>GCA395196578NPIPA1,NPIPA2,NPIPA3c.838C>G (p.Leu280Val)
c.781C>G (p.Leu261Val)
c.63+14266C>G (n.63+14266C>G)
c.902-121C>G (n.902-121C>G)
n.168+1261G>C
c.925C>G (p.Leu309Val)
c.862C>G (p.Leu288Val)
c.793C>G (p.Leu265Val)
 gnomAD v4
16g.14765141C>TCA494102320NPIPA1,NPIPA2,NPIPA3c.838C>T (p.Leu280=)
c.781C>T (p.Leu261=)
c.63+14266C>T (n.63+14266C>T)
c.902-121C>T (n.902-121C>T)
n.168+1261G>A
c.925C>T (p.Leu309=)
c.862C>T (p.Leu288=)
c.793C>T (p.Leu265=)
 dbSNP
16g.14765142T>ACA395196580NPIPA1,NPIPA2,NPIPA3c.839T>A (p.Leu280Gln)
c.782T>A (p.Leu261Gln)
c.63+14267T>A (n.63+14267T>A)
c.902-120T>A (n.902-120T>A)
n.168+1260A>T
c.926T>A (p.Leu309Gln)
c.863T>A (p.Leu288Gln)
c.794T>A (p.Leu265Gln)
16g.14765142T>CCA395196582NPIPA1,NPIPA2,NPIPA3c.839T>C (p.Leu280Pro)
c.782T>C (p.Leu261Pro)
c.63+14267T>C (n.63+14267T>C)
c.902-120T>C (n.902-120T>C)
n.168+1260A>G
c.926T>C (p.Leu309Pro)
c.863T>C (p.Leu288Pro)
c.794T>C (p.Leu265Pro)
16g.14765142T>GCA395196583NPIPA1,NPIPA2,NPIPA3c.839T>G (p.Leu280Arg)
c.782T>G (p.Leu261Arg)
c.63+14267T>G (n.63+14267T>G)
c.902-120T>G (n.902-120T>G)
n.168+1260A>C
c.926T>G (p.Leu309Arg)
c.863T>G (p.Leu288Arg)
c.794T>G (p.Leu265Arg)
16g.14765143G>ACA494102321NPIPA1,NPIPA2,NPIPA3c.840G>A (p.Leu280=)
c.783G>A (p.Leu261=)
c.63+14268G>A (n.63+14268G>A)
c.902-119G>A (n.902-119G>A)
n.168+1259C>T
c.927G>A (p.Leu309=)
c.864G>A (p.Leu288=)
c.795G>A (p.Leu265=)
16g.14765143G>CCA494102322NPIPA1,NPIPA2,NPIPA3c.840G>C (p.Leu280=)
c.783G>C (p.Leu261=)
c.63+14268G>C (n.63+14268G>C)
c.902-119G>C (n.902-119G>C)
n.168+1259C>G
c.927G>C (p.Leu309=)
c.864G>C (p.Leu288=)
c.795G>C (p.Leu265=)
16g.14765143G>TCA494102324NPIPA1,NPIPA2,NPIPA3c.840G>T (p.Leu280=)
c.783G>T (p.Leu261=)
c.63+14268G>T (n.63+14268G>T)
c.902-119G>T (n.902-119G>T)
n.168+1259C>A
c.927G>T (p.Leu309=)
c.864G>T (p.Leu288=)
c.795G>T (p.Leu265=)
16g.14765144A=CA2209437980NPIPA1,NPIPA2,NPIPA3c.841A= (p.Ser281=)
c.784A= (p.Ser262=)
c.63+14269A= (n.63+14269A=)
c.902-118A= (n.902-118A=)
n.168+1258T=
c.928A= (p.Ser310=)
c.865A= (p.Ser289=)
c.796A= (p.Ser266=)
16g.14765144A>CCA395196587NPIPA1,NPIPA2,NPIPA3c.841A>C (p.Ser281Arg)
c.784A>C (p.Ser262Arg)
c.63+14269A>C (n.63+14269A>C)
c.902-118A>C (n.902-118A>C)
n.168+1258T>G
c.928A>C (p.Ser310Arg)
c.865A>C (p.Ser289Arg)
c.796A>C (p.Ser266Arg)
16g.14765144A>GCA395196592NPIPA1,NPIPA2,NPIPA3c.841A>G (p.Ser281Gly)
c.784A>G (p.Ser262Gly)
c.63+14269A>G (n.63+14269A>G)
c.902-118A>G (n.902-118A>G)
n.168+1258T>C
c.928A>G (p.Ser310Gly)
c.865A>G (p.Ser289Gly)
c.796A>G (p.Ser266Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.14765144A>TCA395196585NPIPA1,NPIPA2,NPIPA3c.841A>T (p.Ser281Cys)
c.784A>T (p.Ser262Cys)
c.63+14269A>T (n.63+14269A>T)
c.902-118A>T (n.902-118A>T)
n.168+1258T>A
c.928A>T (p.Ser310Cys)
c.865A>T (p.Ser289Cys)
c.796A>T (p.Ser266Cys)
 dbSNP
16g.14765145G>ACA395196599NPIPA1,NPIPA2,NPIPA3c.842G>A (p.Ser281Asn)
c.785G>A (p.Ser262Asn)
c.63+14270G>A (n.63+14270G>A)
c.902-117G>A (n.902-117G>A)
n.168+1257C>T
c.929G>A (p.Ser310Asn)
c.866G>A (p.Ser289Asn)
c.797G>A (p.Ser266Asn)
 gnomAD v4
16g.14765145G>CCA395196594NPIPA1,NPIPA2,NPIPA3c.842G>C (p.Ser281Thr)
c.785G>C (p.Ser262Thr)
c.63+14270G>C (n.63+14270G>C)
c.902-117G>C (n.902-117G>C)
n.168+1257C>G
c.929G>C (p.Ser310Thr)
c.866G>C (p.Ser289Thr)
c.797G>C (p.Ser266Thr)
16g.14765145G>TCA395196596NPIPA1,NPIPA2,NPIPA3c.842G>T (p.Ser281Ile)
c.785G>T (p.Ser262Ile)
c.63+14270G>T (n.63+14270G>T)
c.902-117G>T (n.902-117G>T)
n.168+1257C>A
c.929G>T (p.Ser310Ile)
c.866G>T (p.Ser289Ile)
c.797G>T (p.Ser266Ile)
16g.14765146C>ACA395196607NPIPA1,NPIPA2,NPIPA3c.843C>A (p.Ser281Arg)
c.786C>A (p.Ser262Arg)
c.63+14271C>A (n.63+14271C>A)
c.902-116C>A (n.902-116C>A)
n.168+1256G>T
c.930C>A (p.Ser310Arg)
c.867C>A (p.Ser289Arg)
c.798C>A (p.Ser266Arg)
 dbSNP
16g.14765146C=CA2209437981NPIPA1,NPIPA2,NPIPA3c.843C= (p.Ser281=)
c.786C= (p.Ser262=)
c.63+14271C= (n.63+14271C=)
c.902-116C= (n.902-116C=)
n.168+1256G=
c.930C= (p.Ser310=)
c.867C= (p.Ser289=)
c.798C= (p.Ser266=)
16g.14765146C>GCA395196611NPIPA1,NPIPA2,NPIPA3c.843C>G (p.Ser281Arg)
c.786C>G (p.Ser262Arg)
c.63+14271C>G (n.63+14271C>G)
c.902-116C>G (n.902-116C>G)
n.168+1256G>C
c.930C>G (p.Ser310Arg)
c.867C>G (p.Ser289Arg)
c.798C>G (p.Ser266Arg)
16g.14765146C>TCA494102329NPIPA1,NPIPA2,NPIPA3c.843C>T (p.Ser281=)
c.786C>T (p.Ser262=)
c.63+14271C>T (n.63+14271C>T)
c.902-116C>T (n.902-116C>T)
n.168+1256G>A
c.930C>T (p.Ser310=)
c.867C>T (p.Ser289=)
c.798C>T (p.Ser266=)
 dbSNP gnomAD v4
16g.14765147C>ACA395196613NPIPA1,NPIPA2,NPIPA3c.844C>A (p.Leu282Ile)
c.787C>A (p.Leu263Ile)
c.63+14272C>A (n.63+14272C>A)
c.902-115C>A (n.902-115C>A)
n.168+1255G>T
c.931C>A (p.Leu311Ile)
c.868C>A (p.Leu290Ile)
c.799C>A (p.Leu267Ile)
 gnomAD v4
16g.14765147C=CA2209437982NPIPA1,NPIPA2,NPIPA3c.844C= (p.Leu282=)
c.787C= (p.Leu263=)
c.63+14272C= (n.63+14272C=)
c.902-115C= (n.902-115C=)
n.168+1255G=
c.931C= (p.Leu311=)
c.868C= (p.Leu290=)
c.799C= (p.Leu267=)
16g.14765147C>GCA395196614NPIPA1,NPIPA2,NPIPA3c.844C>G (p.Leu282Val)
c.787C>G (p.Leu263Val)
c.63+14272C>G (n.63+14272C>G)
c.902-115C>G (n.902-115C>G)
n.168+1255G>C
c.931C>G (p.Leu311Val)
c.868C>G (p.Leu290Val)
c.799C>G (p.Leu267Val)
 gnomAD v3 gnomAD v4
16g.14765147C>TCA395196617NPIPA1,NPIPA2,NPIPA3c.844C>T (p.Leu282Phe)
c.787C>T (p.Leu263Phe)
c.63+14272C>T (n.63+14272C>T)
c.902-115C>T (n.902-115C>T)
n.168+1255G>A
c.931C>T (p.Leu311Phe)
c.868C>T (p.Leu290Phe)
c.799C>T (p.Leu267Phe)
 dbSNP gnomAD v3 gnomAD v4
16g.14765195_14765196insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCCA2631866871NPIPA1,NPIPA2,NPIPA3c.892_893insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC (p.Ala297_Leu298insProProSerAlaAspAspAsnLeuLysThrProProGluCysLeuLeuThrProLeuProProSerAla)
c.835_836insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC (p.Ala278_Leu279insProProSerAlaAspAspAsnLeuLysThrProProGluCysLeuLeuThrProLeuProProSerAla)
c.63+14320_63+14321insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC (n.63+14320_63+14321insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC)
c.902-67_902-66insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC (n.902-67_902-66insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC)
n.168+1255_168+1256insATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAG
c.979_980insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC (p.Ala326_Leu327insProProSerAlaAspAspAsnLeuLysThrProProGluCysLeuLeuThrProLeuProProSerAla)
c.916_917insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC (p.Ala305_Leu306insProProSerAlaAspAspAsnLeuLysThrProProGluCysLeuLeuThrProLeuProProSerAla)
c.970+9_970+10insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC
c.847_848insCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC (p.Ala282_Leu283insProProSerAlaAspAspAsnLeuLysThrProProGluCysLeuLeuThrProLeuProProSerAla)
 gnomAD v4
16g.14765196_14765321delCA2631866873NPIPA1,NPIPA2,NPIPA3c.893_1018del (p.Leu298_Ala339del)
c.836_961del (p.Leu279_Ala320del)
c.63+14321_63+14446del (n.63+14321_63+14446del)
c.902-66_961del
n.168+1130_168+1255del
c.980_1105del (p.Leu327_Ala368del)
c.917_1042del (p.Leu306_Ala347del)
c.970+10_979del
c.848_973del (p.Leu283_Ala324del)
 gnomAD v4
16g.14765148T>ACA395196620NPIPA1,NPIPA2,NPIPA3c.845T>A (p.Leu282His)
c.788T>A (p.Leu263His)
c.63+14273T>A (n.63+14273T>A)
c.902-114T>A (n.902-114T>A)
n.168+1254A>T
c.932T>A (p.Leu311His)
c.869T>A (p.Leu290His)
c.800T>A (p.Leu267His)
16g.14765148T>CCA395196621NPIPA1,NPIPA2,NPIPA3c.845T>C (p.Leu282Pro)
c.788T>C (p.Leu263Pro)
c.63+14273T>C (n.63+14273T>C)
c.902-114T>C (n.902-114T>C)
n.168+1254A>G
c.932T>C (p.Leu311Pro)
c.869T>C (p.Leu290Pro)
c.800T>C (p.Leu267Pro)
16g.14765148T>GCA395196622NPIPA1,NPIPA2,NPIPA3c.845T>G (p.Leu282Arg)
c.788T>G (p.Leu263Arg)
c.63+14273T>G (n.63+14273T>G)
c.902-114T>G (n.902-114T>G)
n.168+1254A>C
c.932T>G (p.Leu311Arg)
c.869T>G (p.Leu290Arg)
c.800T>G (p.Leu267Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.14765148T=CA2209437983NPIPA1,NPIPA2,NPIPA3c.845T= (p.Leu282=)
c.788T= (p.Leu263=)
c.63+14273T= (n.63+14273T=)
c.902-114T= (n.902-114T=)
n.168+1254A=
c.932T= (p.Leu311=)
c.869T= (p.Leu290=)
c.800T= (p.Leu267=)
16g.14765148_14765151delCA974971754NPIPA1,NPIPA2,NPIPA3c.845_848del (p.Leu282ArgfsTer?)
c.788_791del (p.Leu263ArgfsTer?)
c.63+14273_63+14276del (n.63+14273_63+14276del)
c.902-114_902-111del (n.902-114_902-111del)
n.168+1251_168+1254del
c.932_935del (p.Leu311ArgfsTer?)
c.869_872del (p.Leu290ArgfsTer?)
c.800_803del (p.Leu267ArgfsTer?)
 gnomAD v3 gnomAD v4

Number of alleles fetched