Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7803133T>ACA338134034PER3c.959T>A (p.Met320Lys)
c.2T>A
c.956T>A (p.Met319Lys)
c.434T>A (p.Met145Lys)
c.791T>A (p.Met264Lys)
c.611T>A (p.Met204Lys)
c.596T>A (p.Met199Lys)
c.-307T>A (p.=)
n.83T>A
1g.7803133T>CCA338134038PER3c.959T>C (p.Met320Thr)
c.2T>C
c.956T>C (p.Met319Thr)
c.434T>C (p.Met145Thr)
c.791T>C (p.Met264Thr)
c.611T>C (p.Met204Thr)
c.596T>C (p.Met199Thr)
c.-307T>C (p.=)
n.83T>C
1g.7803133T>GCA338134042PER3c.959T>G (p.Met320Arg)
c.2T>G
c.956T>G (p.Met319Arg)
c.434T>G (p.Met145Arg)
c.791T>G (p.Met264Arg)
c.611T>G (p.Met204Arg)
c.596T>G (p.Met199Arg)
c.-307T>G (p.=)
n.83T>G
1g.7803134G>ACA338134055PER3c.960G>A (p.Met320Ile)
c.3G>A
c.957G>A (p.Met319Ile)
c.435G>A (p.Met145Ile)
c.792G>A (p.Met264Ile)
c.612G>A (p.Met204Ile)
c.597G>A (p.Met199Ile)
c.-306G>A (p.=)
n.84G>A
1g.7803134G>CCA338134075PER3c.960G>C (p.Met320Ile)
c.3G>C
c.957G>C (p.Met319Ile)
c.435G>C (p.Met145Ile)
c.792G>C (p.Met264Ile)
c.612G>C (p.Met204Ile)
c.597G>C (p.Met199Ile)
c.-306G>C (p.=)
n.84G>C
1g.7803134G>TCA338134051PER3c.960G>T (p.Met320Ile)
c.3G>T
c.957G>T (p.Met319Ile)
c.435G>T (p.Met145Ile)
c.792G>T (p.Met264Ile)
c.612G>T (p.Met204Ile)
c.597G>T (p.Met199Ile)
c.-306G>T (p.=)
n.84G>T
1g.7803135G>ACA338134081PER3c.961G>A (p.Val321Ile)
c.4G>A (p.Val2Ile)
c.958G>A (p.Val320Ile)
c.436G>A (p.Val146Ile)
c.793G>A (p.Val265Ile)
c.613G>A (p.Val205Ile)
c.598G>A (p.Val200Ile)
c.-305G>A (p.=)
n.85G>A
1g.7803135G>CCA338134106PER3c.961G>C (p.Val321Leu)
c.4G>C (p.Val2Leu)
c.958G>C (p.Val320Leu)
c.436G>C (p.Val146Leu)
c.793G>C (p.Val265Leu)
c.613G>C (p.Val205Leu)
c.598G>C (p.Val200Leu)
c.-305G>C (p.=)
n.85G>C
1g.7803135G>TCA338134111PER3c.961G>T (p.Val321Phe)
c.4G>T (p.Val2Phe)
c.958G>T (p.Val320Phe)
c.436G>T (p.Val146Phe)
c.793G>T (p.Val265Phe)
c.613G>T (p.Val205Phe)
c.598G>T (p.Val200Phe)
c.-305G>T (p.=)
n.85G>T
1g.7803136T>ACA338134119PER3c.962T>A (p.Val321Asp)
c.5T>A (p.Val2Asp)
c.959T>A (p.Val320Asp)
c.437T>A (p.Val146Asp)
c.794T>A (p.Val265Asp)
c.614T>A (p.Val205Asp)
c.599T>A (p.Val200Asp)
c.-304T>A (p.=)
n.86T>A
1g.7803136T>CCA338134130PER3c.962T>C (p.Val321Ala)
c.5T>C (p.Val2Ala)
c.959T>C (p.Val320Ala)
c.437T>C (p.Val146Ala)
c.794T>C (p.Val265Ala)
c.614T>C (p.Val205Ala)
c.599T>C (p.Val200Ala)
c.-304T>C (p.=)
n.86T>C
1g.7803136T>GCA338134141PER3c.962T>G (p.Val321Gly)
c.5T>G (p.Val2Gly)
c.959T>G (p.Val320Gly)
c.437T>G (p.Val146Gly)
c.794T>G (p.Val265Gly)
c.614T>G (p.Val205Gly)
c.599T>G (p.Val200Gly)
c.-304T>G (p.=)
n.86T>G
1g.7803137T>ACA415834081PER3c.963T>A (p.Val321=)
c.6T>A (p.Val2=)
c.960T>A (p.Val320=)
c.438T>A (p.Val146=)
c.795T>A (p.Val265=)
c.615T>A (p.Val205=)
c.600T>A (p.Val200=)
c.-303T>A (p.=)
n.87T>A
1g.7803137T>CCA415834080PER3c.963T>C (p.Val321=)
c.6T>C (p.Val2=)
c.960T>C (p.Val320=)
c.438T>C (p.Val146=)
c.795T>C (p.Val265=)
c.615T>C (p.Val205=)
c.600T>C (p.Val200=)
c.-303T>C (p.=)
n.87T>C
1g.7803137T>GCA415834079PER3c.963T>G (p.Val321=)
c.6T>G (p.Val2=)
c.960T>G (p.Val320=)
c.438T>G (p.Val146=)
c.795T>G (p.Val265=)
c.615T>G (p.Val205=)
c.600T>G (p.Val200=)
c.-303T>G (p.=)
n.87T>G
1g.7803138G>ACA338134150PER3c.964G>A (p.Ala322Thr)
c.7G>A (p.Ala3Thr)
c.961G>A (p.Ala321Thr)
c.439G>A (p.Ala147Thr)
c.796G>A (p.Ala266Thr)
c.616G>A (p.Ala206Thr)
c.601G>A (p.Ala201Thr)
c.-302G>A (p.=)
n.88G>A
1g.7803138G>CCA338134147PER3c.964G>C (p.Ala322Pro)
c.7G>C (p.Ala3Pro)
c.961G>C (p.Ala321Pro)
c.439G>C (p.Ala147Pro)
c.796G>C (p.Ala266Pro)
c.616G>C (p.Ala206Pro)
c.601G>C (p.Ala201Pro)
c.-302G>C (p.=)
n.88G>C
1g.7803138G>TCA338134149PER3c.964G>T (p.Ala322Ser)
c.7G>T (p.Ala3Ser)
c.961G>T (p.Ala321Ser)
c.439G>T (p.Ala147Ser)
c.796G>T (p.Ala266Ser)
c.616G>T (p.Ala206Ser)
c.601G>T (p.Ala201Ser)
c.-302G>T (p.=)
n.88G>T
1g.7803139C>ACA338134152PER3c.965C>A (p.Ala322Asp)
c.8C>A (p.Ala3Asp)
c.962C>A (p.Ala321Asp)
c.440C>A (p.Ala147Asp)
c.797C>A (p.Ala266Asp)
c.617C>A (p.Ala206Asp)
c.602C>A (p.Ala201Asp)
c.-301C>A (p.=)
n.89C>A
1g.7803139C>GCA338134154PER3c.965C>G (p.Ala322Gly)
c.8C>G (p.Ala3Gly)
c.962C>G (p.Ala321Gly)
c.440C>G (p.Ala147Gly)
c.797C>G (p.Ala266Gly)
c.617C>G (p.Ala206Gly)
c.602C>G (p.Ala201Gly)
c.-301C>G (p.=)
n.89C>G
1g.7803139C>TCA338134156PER3c.965C>T (p.Ala322Val)
c.8C>T (p.Ala3Val)
c.962C>T (p.Ala321Val)
c.440C>T (p.Ala147Val)
c.797C>T (p.Ala266Val)
c.617C>T (p.Ala206Val)
c.602C>T (p.Ala201Val)
c.-301C>T (p.=)
n.89C>T
1g.7803139delCA739064976PER3c.965del (p.Ile323TyrfsTer6)
c.8del (p.Ile4TyrfsTer6)
c.962del (p.Ile322TyrfsTer6)
c.440del (p.Ile148TyrfsTer6)
c.797del (p.Ile267TyrfsTer6)
c.617del (p.Ile207TyrfsTer6)
c.602del (p.Ile202TyrfsTer6)
c.-301del (p.=)
n.89del
dbSNP
1g.7803140C>ACA415834083PER3c.966C>A (p.Ala322=)
c.9C>A (p.Ala3=)
c.963C>A (p.Ala321=)
c.441C>A (p.Ala147=)
c.798C>A (p.Ala266=)
c.618C>A (p.Ala206=)
c.603C>A (p.Ala201=)
c.-300C>A (p.=)
n.90C>A
1g.7803140C>GCA415834084PER3c.966C>G (p.Ala322=)
c.9C>G (p.Ala3=)
c.963C>G (p.Ala321=)
c.441C>G (p.Ala147=)
c.798C>G (p.Ala266=)
c.618C>G (p.Ala206=)
c.603C>G (p.Ala201=)
c.-300C>G (p.=)
n.90C>G
1g.7803140C>TCA415834085PER3c.966C>T (p.Ala322=)
c.9C>T (p.Ala3=)
c.963C>T (p.Ala321=)
c.441C>T (p.Ala147=)
c.798C>T (p.Ala266=)
c.618C>T (p.Ala206=)
c.603C>T (p.Ala201=)
c.-300C>T (p.=)
n.90C>T
1g.7803141A>CCA338134161PER3c.967A>C (p.Ile323Leu)
c.10A>C (p.Ile4Leu)
c.964A>C (p.Ile322Leu)
c.442A>C (p.Ile148Leu)
c.799A>C (p.Ile267Leu)
c.619A>C (p.Ile207Leu)
c.604A>C (p.Ile202Leu)
c.-299A>C (p.=)
n.91A>C
1g.7803141A>GCA338134165PER3c.967A>G (p.Ile323Val)
c.10A>G (p.Ile4Val)
c.964A>G (p.Ile322Val)
c.442A>G (p.Ile148Val)
c.799A>G (p.Ile267Val)
c.619A>G (p.Ile207Val)
c.604A>G (p.Ile202Val)
c.-299A>G (p.=)
n.91A>G
gnomAD
1g.7803141A>TCA338134167PER3c.967A>T (p.Ile323Leu)
c.10A>T (p.Ile4Leu)
c.964A>T (p.Ile322Leu)
c.442A>T (p.Ile148Leu)
c.799A>T (p.Ile267Leu)
c.619A>T (p.Ile207Leu)
c.604A>T (p.Ile202Leu)
c.-299A>T (p.=)
n.91A>T
1g.7803142T>ACA338134172PER3c.968T>A (p.Ile323Lys)
c.11T>A (p.Ile4Lys)
c.965T>A (p.Ile322Lys)
c.443T>A (p.Ile148Lys)
c.800T>A (p.Ile267Lys)
c.620T>A (p.Ile207Lys)
c.605T>A (p.Ile202Lys)
c.-298T>A (p.=)
n.92T>A
1g.7803142T>CCA338134189PER3c.968T>C (p.Ile323Thr)
c.11T>C (p.Ile4Thr)
c.965T>C (p.Ile322Thr)
c.443T>C (p.Ile148Thr)
c.800T>C (p.Ile267Thr)
c.620T>C (p.Ile207Thr)
c.605T>C (p.Ile202Thr)
c.-298T>C (p.=)
n.92T>C
1g.7803142T>GCA338134177PER3c.968T>G (p.Ile323Arg)
c.11T>G (p.Ile4Arg)
c.965T>G (p.Ile322Arg)
c.443T>G (p.Ile148Arg)
c.800T>G (p.Ile267Arg)
c.620T>G (p.Ile207Arg)
c.605T>G (p.Ile202Arg)
c.-298T>G (p.=)
n.92T>G
1g.7803143A>CCA415834086PER3c.969A>C (p.Ile323=)
c.12A>C (p.Ile4=)
c.966A>C (p.Ile322=)
c.444A>C (p.Ile148=)
c.801A>C (p.Ile267=)
c.621A>C (p.Ile207=)
c.606A>C (p.Ile202=)
c.-297A>C (p.=)
n.93A>C
1g.7803143A>GCA567929PER3c.969A>G (p.Ile323Met)
c.12A>G (p.Ile4Met)
c.966A>G (p.Ile322Met)
c.444A>G (p.Ile148Met)
c.801A>G (p.Ile267Met)
c.621A>G (p.Ile207Met)
c.606A>G (p.Ile202Met)
c.-297A>G (p.=)
n.93A>G
dbSNP ExAC gnomAD COSMIC
1g.7803143A>TCA415834087PER3c.969A>T (p.Ile323=)
c.12A>T (p.Ile4=)
c.966A>T (p.Ile322=)
c.444A>T (p.Ile148=)
c.801A>T (p.Ile267=)
c.621A>T (p.Ile207=)
c.606A>T (p.Ile202=)
c.-297A>T (p.=)
n.93A>T
1g.7803144C>ACA338134206PER3c.970C>A (p.His324Asn)
c.13C>A (p.His5Asn)
c.967C>A (p.His323Asn)
c.445C>A (p.His149Asn)
c.802C>A (p.His268Asn)
c.622C>A (p.His208Asn)
c.607C>A (p.His203Asn)
c.-296C>A (p.=)
n.94C>A
1g.7803144C>GCA338134210PER3c.970C>G (p.His324Asp)
c.13C>G (p.His5Asp)
c.967C>G (p.His323Asp)
c.445C>G (p.His149Asp)
c.802C>G (p.His268Asp)
c.622C>G (p.His208Asp)
c.607C>G (p.His203Asp)
c.-296C>G (p.=)
n.94C>G
1g.7803144C>TCA338134226PER3c.970C>T (p.His324Tyr)
c.13C>T (p.His5Tyr)
c.967C>T (p.His323Tyr)
c.445C>T (p.His149Tyr)
c.802C>T (p.His268Tyr)
c.622C>T (p.His208Tyr)
c.607C>T (p.His203Tyr)
c.-296C>T (p.=)
n.94C>T
gnomAD
1g.7803145A>CCA338134227PER3c.971A>C (p.His324Pro)
c.14A>C (p.His5Pro)
c.968A>C (p.His323Pro)
c.446A>C (p.His149Pro)
c.803A>C (p.His268Pro)
c.623A>C (p.His208Pro)
c.608A>C (p.His203Pro)
c.-295A>C (p.=)
n.95A>C
1g.7803145A>GCA338134228PER3c.971A>G (p.His324Arg)
c.14A>G (p.His5Arg)
c.968A>G (p.His323Arg)
c.446A>G (p.His149Arg)
c.803A>G (p.His268Arg)
c.623A>G (p.His208Arg)
c.608A>G (p.His203Arg)
c.-295A>G (p.=)
n.95A>G
1g.7803145A>TCA338134229PER3c.971A>T (p.His324Leu)
c.14A>T (p.His5Leu)
c.968A>T (p.His323Leu)
c.446A>T (p.His149Leu)
c.803A>T (p.His268Leu)
c.623A>T (p.His208Leu)
c.608A>T (p.His203Leu)
c.-295A>T (p.=)
n.95A>T
1g.7803146C>ACA338134230PER3c.972C>A (p.His324Gln)
c.15C>A (p.His5Gln)
c.969C>A (p.His323Gln)
c.447C>A (p.His149Gln)
c.804C>A (p.His268Gln)
c.624C>A (p.His208Gln)
c.609C>A (p.His203Gln)
c.-294C>A (p.=)
n.96C>A
1g.7803146C>GCA338134231PER3c.972C>G (p.His324Gln)
c.15C>G (p.His5Gln)
c.969C>G (p.His323Gln)
c.447C>G (p.His149Gln)
c.804C>G (p.His268Gln)
c.624C>G (p.His208Gln)
c.609C>G (p.His203Gln)
c.-294C>G (p.=)
n.96C>G
1g.7803146C>TCA415834089PER3c.972C>T (p.His324=)
c.15C>T (p.His5=)
c.969C>T (p.His323=)
c.447C>T (p.His149=)
c.804C>T (p.His268=)
c.624C>T (p.His208=)
c.609C>T (p.His203=)
c.-294C>T (p.=)
n.96C>T
1g.7803147C>ACA338134232PER3c.973C>A (p.Gln325Lys)
c.16C>A (p.Gln6Lys)
c.970C>A (p.Gln324Lys)
c.448C>A (p.Gln150Lys)
c.805C>A (p.Gln269Lys)
c.625C>A (p.Gln209Lys)
c.610C>A (p.Gln204Lys)
c.-293C>A (p.=)
n.97C>A
1g.7803147C>GCA338134248PER3c.973C>G (p.Gln325Glu)
c.16C>G (p.Gln6Glu)
c.970C>G (p.Gln324Glu)
c.448C>G (p.Gln150Glu)
c.805C>G (p.Gln269Glu)
c.625C>G (p.Gln209Glu)
c.610C>G (p.Gln204Glu)
c.-293C>G (p.=)
n.97C>G
1g.7803147C>TCA338134259PER3c.973C>T (p.Gln325Ter)
c.16C>T (p.Gln6Ter)
c.970C>T (p.Gln324Ter)
c.448C>T (p.Gln150Ter)
c.805C>T (p.Gln269Ter)
c.625C>T (p.Gln209Ter)
c.610C>T (p.Gln204Ter)
c.-293C>T (p.=)
n.97C>T
1g.7803148A>CCA338134262PER3c.974A>C (p.Gln325Pro)
c.17A>C (p.Gln6Pro)
c.971A>C (p.Gln324Pro)
c.449A>C (p.Gln150Pro)
c.806A>C (p.Gln269Pro)
c.626A>C (p.Gln209Pro)
c.611A>C (p.Gln204Pro)
c.-292A>C (p.=)
n.98A>C
1g.7803148A>GCA338134270PER3c.974A>G (p.Gln325Arg)
c.17A>G (p.Gln6Arg)
c.971A>G (p.Gln324Arg)
c.449A>G (p.Gln150Arg)
c.806A>G (p.Gln269Arg)
c.626A>G (p.Gln209Arg)
c.611A>G (p.Gln204Arg)
c.-292A>G (p.=)
n.98A>G
1g.7803148A>TCA338134268PER3c.974A>T (p.Gln325Leu)
c.17A>T (p.Gln6Leu)
c.971A>T (p.Gln324Leu)
c.449A>T (p.Gln150Leu)
c.806A>T (p.Gln269Leu)
c.626A>T (p.Gln209Leu)
c.611A>T (p.Gln204Leu)
c.-292A>T (p.=)
n.98A>T
1g.7803149A>CCA338134278PER3c.975A>C (p.Gln325His)
c.18A>C (p.Gln6His)
c.972A>C (p.Gln324His)
c.450A>C (p.Gln150His)
c.807A>C (p.Gln269His)
c.627A>C (p.Gln209His)
c.612A>C (p.Gln204His)
c.-291A>C (p.=)
n.99A>C

Number of alleles fetched