Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.3660181G>CCA728450983CTNSc.971-55G>C (n.971-55G>C)
c.218-55G>C (n.218-55G>C)
c.530-55G>C (n.530-55G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.3660181G=CA2243978846CTNSc.971-55G= (n.971-55G=)
c.218-55G= (n.218-55G=)
c.530-55G= (n.530-55G=)
17g.3660181_3660205delinsGCTGCCTCAGGAGCTGCCAACCTAACA2243978847CTNSc.971-55_971-31delinsGCTGCCTCAGGAGCTGCCAACCTAA (n.971-55_971-31delinsGCTGCCTCAGGAGCTGCCAACCTAA)
c.218-55_218-31delinsGCTGCCTCAGGAGCTGCCAACCTAA (n.218-55_218-31delinsGCTGCCTCAGGAGCTGCCAACCTAA)
c.530-55_530-31delinsGCTGCCTCAGGAGCTGCCAACCTAA (n.530-55_530-31delinsGCTGCCTCAGGAGCTGCCAACCTAA)
17g.3660182C>GCA2635424469CTNSc.971-54C>G (n.971-54C>G)
c.218-54C>G (n.218-54C>G)
c.530-54C>G (n.530-54C>G)
 gnomAD v4
17g.3660183_3660206delCA980872084CTNSc.971-53_971-30del (n.971-53_971-30del)
c.218-53_218-30del (n.218-53_218-30del)
c.530-53_530-30del (n.530-53_530-30del)
 dbSNP gnomAD v3 gnomAD v4
17g.3660184G>ACA728450998CTNSc.971-52G>A (n.971-52G>A)
c.218-52G>A (n.218-52G>A)
c.530-52G>A (n.530-52G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.3660184G>CCA287022222CTNSc.971-52G>C (n.971-52G>C)
c.218-52G>C (n.218-52G>C)
c.530-52G>C (n.530-52G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.3660184G=CA2243978849CTNSc.971-52G= (n.971-52G=)
c.218-52G= (n.218-52G=)
c.530-52G= (n.530-52G=)
17g.3660188C>TCA2733023835CTNSc.971-48C>T (n.971-48C>T)
c.218-48C>T (n.218-48C>T)
c.530-48C>T (n.530-48C>T)
 dbSNP
17g.3660188_3660189insTCA2635424470CTNSc.971-48_971-47insT (n.971-48_971-47insT)
c.218-48_218-47insT (n.218-48_218-47insT)
c.530-48_530-47insT (n.530-48_530-47insT)
 gnomAD v4
17g.3660189A=CA2243978850CTNSc.971-47A= (n.971-47A=)
c.218-47A= (n.218-47A=)
c.530-47A= (n.530-47A=)
17g.3660189A>GCA2243978851CTNSc.971-47A>G (n.971-47A>G)
c.218-47A>G (n.218-47A>G)
c.530-47A>G (n.530-47A>G)
 dbSNP
17g.3660189A>TCA2635424471CTNSc.971-47A>T (n.971-47A>T)
c.218-47A>T (n.218-47A>T)
c.530-47A>T (n.530-47A>T)
 gnomAD v4
17g.3660193G>ACA624850994CTNSc.971-43G>A (n.971-43G>A)
c.218-43G>A (n.218-43G>A)
c.530-43G>A (n.530-43G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3660193G=CA2243978853CTNSc.971-43G= (n.971-43G=)
c.218-43G= (n.218-43G=)
c.530-43G= (n.530-43G=)
17g.3660193G>TCA8291987CTNSc.971-43G>T (n.971-43G>T)
c.218-43G>T (n.218-43G>T)
c.530-43G>T (n.530-43G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660196G>ACA624850995CTNSc.971-40G>A (n.971-40G>A)
c.218-40G>A (n.218-40G>A)
c.530-40G>A (n.530-40G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.3660196G>CCA728451007CTNSc.971-40G>C (n.971-40G>C)
c.218-40G>C (n.218-40G>C)
c.530-40G>C (n.530-40G>C)
 dbSNP
17g.3660196G=CA2243978857CTNSc.971-40G= (n.971-40G=)
c.218-40G= (n.218-40G=)
c.530-40G= (n.530-40G=)
17g.3660198C>GCA2635424472CTNSc.971-38C>G (n.971-38C>G)
c.218-38C>G (n.218-38C>G)
c.530-38C>G (n.530-38C>G)
 gnomAD v4
17g.3660198C>TCA2576123953CTNSc.971-38C>T (n.971-38C>T)
c.218-38C>T (n.218-38C>T)
c.530-38C>T (n.530-38C>T)
 gnomAD v4
17g.3660200A=CA2243978859CTNSc.971-36A= (n.971-36A=)
c.218-36A= (n.218-36A=)
c.530-36A= (n.530-36A=)
17g.3660200A>CCA2576123954CTNSc.971-36A>C (n.971-36A>C)
c.218-36A>C (n.218-36A>C)
c.530-36A>C (n.530-36A>C)
 gnomAD v4
17g.3660200A>GCA8291988CTNSc.971-36A>G (n.971-36A>G)
c.218-36A>G (n.218-36A>G)
c.530-36A>G (n.530-36A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660200A>TCA2635424473CTNSc.971-36A>T (n.971-36A>T)
c.218-36A>T (n.218-36A>T)
c.530-36A>T (n.530-36A>T)
 gnomAD v4
17g.3660201C=CA2243978863CTNSc.971-35C= (n.971-35C=)
c.218-35C= (n.218-35C=)
c.530-35C= (n.530-35C=)
17g.3660201C>GCA2635424474CTNSc.971-35C>G (n.971-35C>G)
c.218-35C>G (n.218-35C>G)
c.530-35C>G (n.530-35C>G)
 gnomAD v4
17g.3660201C>TCA287022227CTNSc.971-35C>T (n.971-35C>T)
c.218-35C>T (n.218-35C>T)
c.530-35C>T (n.530-35C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.3660203T>GCA2635424475CTNSc.971-33T>G (n.971-33T>G)
c.218-33T>G (n.218-33T>G)
c.530-33T>G (n.530-33T>G)
 gnomAD v4
17g.3660203dupCA2635424476CTNSc.971-33dup (n.971-33dup)
c.218-33dup (n.218-33dup)
c.530-33dup (n.530-33dup)
 gnomAD v4
17g.3660204A=CA2243978864CTNSc.971-32A= (n.971-32A=)
c.218-32A= (n.218-32A=)
c.530-32A= (n.530-32A=)
17g.3660204A>CCA287022230CTNSc.971-32A>C (n.971-32A>C)
c.218-32A>C (n.218-32A>C)
c.530-32A>C (n.530-32A>C)
 dbSNP
17g.3660206C>ACA2635424477CTNSc.971-30C>A (n.971-30C>A)
c.218-30C>A (n.218-30C>A)
c.530-30C>A (n.530-30C>A)
 gnomAD v4
17g.3660206C=CA2243978866CTNSc.971-30C= (n.971-30C=)
c.218-30C= (n.218-30C=)
c.530-30C= (n.530-30C=)
17g.3660206C>TCA2243978867CTNSc.971-30C>T (n.971-30C>T)
c.218-30C>T (n.218-30C>T)
c.530-30C>T (n.530-30C>T)
 dbSNP
17g.3660207A=CA2243978870CTNSc.971-29A= (n.971-29A=)
c.218-29A= (n.218-29A=)
c.530-29A= (n.530-29A=)
17g.3660207A>GCA287022236CTNSc.971-29A>G (n.971-29A>G)
c.218-29A>G (n.218-29A>G)
c.530-29A>G (n.530-29A>G)
 dbSNP
17g.3660207A>TCA2808251532CTNSc.971-29A>T (n.971-29A>T)
c.218-29A>T (n.218-29A>T)
c.530-29A>T (n.530-29A>T)
17g.3660208C>ACA2576123956CTNSc.971-28C>A (n.971-28C>A)
c.218-28C>A (n.218-28C>A)
c.530-28C>A (n.530-28C>A)
 gnomAD v4
17g.3660208C>TCA2635424478CTNSc.971-28C>T (n.971-28C>T)
c.218-28C>T (n.218-28C>T)
c.530-28C>T (n.530-28C>T)
 gnomAD v4
17g.3660209delCA2576123955CTNSc.971-27del (n.971-27del)
c.218-27del (n.218-27del)
c.530-27del (n.530-27del)
 gnomAD v4
17g.3660211G>ACA2243978874CTNSc.971-25G>A (n.971-25G>A)
c.218-25G>A (n.218-25G>A)
c.530-25G>A (n.530-25G>A)
 dbSNP gnomAD v4
17g.3660211G>CCA728451020CTNSc.971-25G>C (n.971-25G>C)
c.218-25G>C (n.218-25G>C)
c.530-25G>C (n.530-25G>C)
 dbSNP gnomAD v4
17g.3660211G=CA2243978873CTNSc.971-25G= (n.971-25G=)
c.218-25G= (n.218-25G=)
c.530-25G= (n.530-25G=)
17g.3660213T>CCA8291989CTNSc.971-23T>C (n.971-23T>C)
c.218-23T>C (n.218-23T>C)
c.530-23T>C (n.530-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660213T=CA2243978876CTNSc.971-23T= (n.971-23T=)
c.218-23T= (n.218-23T=)
c.530-23T= (n.530-23T=)
17g.3660214T>ACA8291990CTNSc.971-22T>A (n.971-22T>A)
c.218-22T>A (n.218-22T>A)
c.530-22T>A (n.530-22T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3660214T=CA2243978877CTNSc.971-22T= (n.971-22T=)
c.218-22T= (n.218-22T=)
c.530-22T= (n.530-22T=)
17g.3660215C=CA2243978878CTNSc.971-21C= (n.971-21C=)
c.218-21C= (n.218-21C=)
c.530-21C= (n.530-21C=)
17g.3660215C>GCA8291991CTNSc.971-21C>G (n.971-21C>G)
c.218-21C>G (n.218-21C>G)
c.530-21C>G (n.530-21C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3660215C>TCA2243978880CTNSc.971-21C>T (n.971-21C>T)
c.218-21C>T (n.218-21C>T)
c.530-21C>T (n.530-21C>T)
 dbSNP
17g.3660216T>CCA2635424480CTNSc.971-20T>C (n.971-20T>C)
c.218-20T>C (n.218-20T>C)
c.530-20T>C (n.530-20T>C)
 gnomAD v4
17g.3660217G=CA2243978882CTNSc.971-19G= (n.971-19G=)
c.218-19G= (n.218-19G=)
c.530-19G= (n.530-19G=)
17g.3660217G>TCA8291992CTNSc.971-19G>T (n.971-19G>T)
c.218-19G>T (n.218-19G>T)
c.530-19G>T (n.530-19G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3660218T>CCA2243978884CTNSc.971-18T>C (n.971-18T>C)
c.218-18T>C (n.218-18T>C)
c.530-18T>C (n.530-18T>C)
 dbSNP
17g.3660218T=CA2243978883CTNSc.971-18T= (n.971-18T=)
c.218-18T= (n.218-18T=)
c.530-18T= (n.530-18T=)
17g.3660219C=CA2243978886CTNSc.971-17C= (n.971-17C=)
c.218-17C= (n.218-17C=)
c.530-17C= (n.530-17C=)
17g.3660219C>GCA2635424483CTNSc.971-17C>G (n.971-17C>G)
c.218-17C>G (n.218-17C>G)
c.530-17C>G (n.530-17C>G)
 gnomAD v4
17g.3660219C>TCA2243978888CTNSc.971-17C>T (n.971-17C>T)
c.218-17C>T (n.218-17C>T)
c.530-17C>T (n.530-17C>T)
 ClinVar dbSNP gnomAD v4
17g.3660223dupCA8291993CTNSc.971-13dup (n.971-13dup)
c.218-13dup (n.218-13dup)
c.530-13dup (n.530-13dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660223delCA2635424485CTNSc.971-13del (n.971-13del)
c.218-13del (n.218-13del)
c.530-13del (n.530-13del)
 gnomAD v4
17g.3660220C=CA2243978894CTNSc.971-16C= (n.971-16C=)
c.218-16C= (n.218-16C=)
c.530-16C= (n.530-16C=)
17g.3660220C>GCA8291995CTNSc.971-16C>G (n.971-16C>G)
c.218-16C>G (n.218-16C>G)
c.530-16C>G (n.530-16C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3660220C>TCA8291994CTNSc.971-16C>T (n.971-16C>T)
c.218-16C>T (n.218-16C>T)
c.530-16C>T (n.530-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3660221C>TCA2546201375CTNSc.971-15C>T (n.971-15C>T)
c.218-15C>T (n.218-15C>T)
c.530-15C>T (n.530-15C>T)
 ClinVar gnomAD v4
17g.3660223C=CA2243978895CTNSc.971-13C= (n.971-13C=)
c.218-13C= (n.218-13C=)
c.530-13C= (n.530-13C=)
17g.3660223C>TCA8291996CTNSc.971-13C>T (n.971-13C>T)
c.218-13C>T (n.218-13C>T)
c.530-13C>T (n.530-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660223_3660230delinsCGGCTGCTCA2243978896CTNSc.971-13_971-6delinsCGGCTGCT (n.971-13_971-6delinsCGGCTGCT)
c.218-13_218-6delinsCGGCTGCT (n.218-13_218-6delinsCGGCTGCT)
c.530-13_530-6delinsCGGCTGCT (n.530-13_530-6delinsCGGCTGCT)
17g.3660224G>ACA8291997CTNSc.971-12G>A (n.971-12G>A)
c.218-12G>A (n.218-12G>A)
c.530-12G>A (n.530-12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660224G>CCA624850996CTNSc.971-12G>C (n.971-12G>C)
c.218-12G>C (n.218-12G>C)
c.530-12G>C (n.530-12G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3660224G=CA2243978898CTNSc.971-12G= (n.971-12G=)
c.218-12G= (n.218-12G=)
c.530-12G= (n.530-12G=)
17g.3660224G>TCA2635424489CTNSc.971-12G>T (n.971-12G>T)
c.218-12G>T (n.218-12G>T)
c.530-12G>T (n.530-12G>T)
 gnomAD v4
17g.3660224_3660230delCA624850997CTNSc.971-12_971-6del (n.971-12_971-6del)
c.218-12_218-6del (n.218-12_218-6del)
c.530-12_530-6del (n.530-12_530-6del)
 dbSNP gnomAD v2 gnomAD v4
17g.3660228_3660230delCA2580612854CTNSc.971-8_971-6del (n.971-8_971-6del)
c.218-8_218-6del (n.218-8_218-6del)
c.530-8_530-6del (n.530-8_530-6del)
 ClinVar
17g.3660228G>ACA8291998CTNSc.971-8G>A (n.971-8G>A)
c.218-8G>A (n.218-8G>A)
c.530-8G>A (n.530-8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660228G=CA2243978902CTNSc.971-8G= (n.971-8G=)
c.218-8G= (n.218-8G=)
c.530-8G= (n.530-8G=)
17g.3660230T>GCA2580093572CTNSc.971-6T>G (n.971-6T>G)
c.218-6T>G (n.218-6T>G)
c.530-6T>G (n.530-6T>G)
 ClinVar
17g.3660231A>GCA2635424491CTNSc.971-5A>G (n.971-5A>G)
c.218-5A>G (n.218-5A>G)
c.530-5A>G (n.530-5A>G)
 gnomAD v4
17g.3660231A>TCA2635424492CTNSc.971-5A>T (n.971-5A>T)
c.218-5A>T (n.218-5A>T)
c.530-5A>T (n.530-5A>T)
 gnomAD v4
17g.3660231_3660234dupCA2635424490CTNSc.971-5_971-2dup (n.971-5_971-2dup)
c.218-5_218-2dup (n.218-5_218-2dup)
c.530-5_530-2dup (n.530-5_530-2dup)
 gnomAD v4
17g.3660233C>TCA2635424493CTNSc.971-3C>T (n.971-3C>T)
c.218-3C>T (n.218-3C>T)
c.530-3C>T (n.530-3C>T)
 gnomAD v4
17g.3660234A=CA2243978905CTNSc.971-2A= (n.971-2A=)
c.218-2A= (n.218-2A=)
c.530-2A= (n.530-2A=)
17g.3660234A>CCA397693958CTNSc.971-2A>C (n.971-2A>C)
c.218-2A>C (n.218-2A>C)
c.530-2A>C (n.530-2A>C)
17g.3660234A>GCA397693959CTNSc.971-2A>G (n.971-2A>G)
c.218-2A>G (n.218-2A>G)
c.530-2A>G (n.530-2A>G)
17g.3660234A>TCA397693961CTNSc.971-2A>T (n.971-2A>T)
c.218-2A>T (n.218-2A>T)
c.530-2A>T (n.530-2A>T)
17g.3660234dupCA913010139CTNSc.971-2dup (n.971-2dup)
c.218-2dup (n.218-2dup)
c.530-2dup (n.530-2dup)
 ClinVar
17g.3660235G>ACA397693963CTNSc.971-1G>A (n.971-1G>A)
c.218-1G>A (n.218-1G>A)
c.530-1G>A (n.530-1G>A)
17g.3660235G>CCA397693965CTNSc.971-1G>C (n.971-1G>C)
c.218-1G>C (n.218-1G>C)
c.530-1G>C (n.530-1G>C)
 ClinVar dbSNP
17g.3660235G>TCA397693967CTNSc.971-1G>T (n.971-1G>T)
c.218-1G>T (n.218-1G>T)
c.530-1G>T (n.530-1G>T)
17g.3660235dupCA658823876CTNSc.971-1dup (n.971-1dup)
c.218-1dup (n.218-1dup)
c.530-1dup (n.530-1dup)
 ClinVar dbSNP
17g.3660238_3660245delCA2580093573CTNSc.973_980del
c.220_227del
c.532_539del
 ClinVar gnomAD v4
17g.3660236A=CA2243978908CTNSc.971A= (p.Asp324=)
c.218A= (p.Asp73=)
c.530A= (p.Asp177=)
17g.3660236A>CCA397693969CTNSc.971A>C (p.Asp324Ala)
c.218A>C (p.Asp73Ala)
c.530A>C (p.Asp177Ala)
17g.3660236A>GCA397693973CTNSc.971A>G (p.Asp324Gly)
c.218A>G (p.Asp73Gly)
c.530A>G (p.Asp177Gly)
17g.3660236A>TCA397693971CTNSc.971A>T (p.Asp324Val)
c.218A>T (p.Asp73Val)
c.530A>T (p.Asp177Val)
17g.3660237C>ACA397693975CTNSc.972C>A (p.Asp324Glu)
c.219C>A (p.Asp73Glu)
c.531C>A (p.Asp177Glu)
 gnomAD v4
17g.3660237C>GCA397693977CTNSc.972C>G (p.Asp324Glu)
c.219C>G (p.Asp73Glu)
c.531C>G (p.Asp177Glu)
17g.3660237C>TCA497466716CTNSc.972C>T (p.Asp324=)
c.219C>T (p.Asp73=)
c.531C>T (p.Asp177=)
 ClinVar
17g.3660238dupCA624851000CTNSc.973dup (p.Gln325ProfsTer?)
c.220dup (p.Gln74ProfsTer?)
c.532dup (p.Gln178ProfsTer?)
 dbSNP gnomAD v2
17g.3660238C>ACA397693979CTNSc.973C>A (p.Gln325Lys)
c.220C>A (p.Gln74Lys)
c.532C>A (p.Gln178Lys)
17g.3660238C>GCA397693981CTNSc.973C>G (p.Gln325Glu)
c.220C>G (p.Gln74Glu)
c.532C>G (p.Gln178Glu)
17g.3660238C>TCA397693983CTNSc.973C>T (p.Gln325Ter)
c.220C>T (p.Gln74Ter)
c.532C>T (p.Gln178Ter)
17g.3660239A>CCA397693985CTNSc.974A>C (p.Gln325Pro)
c.221A>C (p.Gln74Pro)
c.533A>C (p.Gln178Pro)
17g.3660239A>GCA397693987CTNSc.974A>G (p.Gln325Arg)
c.221A>G (p.Gln74Arg)
c.533A>G (p.Gln178Arg)
17g.3660239A>TCA397693989CTNSc.974A>T (p.Gln325Leu)
c.221A>T (p.Gln74Leu)
c.533A>T (p.Gln178Leu)
 gnomAD v4
17g.3660240G>ACA497466717CTNSc.975G>A (p.Gln325=)
c.222G>A (p.Gln74=)
c.534G>A (p.Gln178=)
 ClinVar dbSNP
17g.3660240G>CCA397693993CTNSc.975G>C (p.Gln325His)
c.222G>C (p.Gln74His)
c.534G>C (p.Gln178His)
17g.3660240G=CA2243978910CTNSc.975G= (p.Gln325=)
c.222G= (p.Gln74=)
c.534G= (p.Gln178=)
17g.3660240G>TCA397693991CTNSc.975G>T (p.Gln325His)
c.222G>T (p.Gln74His)
c.534G>T (p.Gln178His)
17g.3660241T>ACA8291999CTNSc.976T>A (p.Trp326Arg)
c.223T>A (p.Trp75Arg)
c.535T>A (p.Trp179Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660241T>CCA8292000CTNSc.976T>C (p.Trp326Arg)
c.223T>C (p.Trp75Arg)
c.535T>C (p.Trp179Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660241T>GCA397693997CTNSc.976T>G (p.Trp326Gly)
c.223T>G (p.Trp75Gly)
c.535T>G (p.Trp179Gly)
17g.3660241T=CA2243978912CTNSc.976T= (p.Trp326=)
c.223T= (p.Trp75=)
c.535T= (p.Trp179=)
17g.3660242G>ACA397693999CTNSc.977G>A (p.Trp326Ter)
c.224G>A (p.Trp75Ter)
c.536G>A (p.Trp179Ter)
 ClinVar dbSNP
17g.3660242G>CCA397694001CTNSc.977G>C (p.Trp326Ser)
c.224G>C (p.Trp75Ser)
c.536G>C (p.Trp179Ser)
17g.3660242G=CA2243978913CTNSc.977G= (p.Trp326=)
c.224G= (p.Trp75=)
c.536G= (p.Trp179=)
17g.3660242G>TCA397694002CTNSc.977G>T (p.Trp326Leu)
c.224G>T (p.Trp75Leu)
c.536G>T (p.Trp179Leu)
17g.3660243G>ACA397694003CTNSc.978G>A (p.Trp326Ter)
c.225G>A (p.Trp75Ter)
c.537G>A (p.Trp179Ter)
17g.3660243G>CCA397694007CTNSc.978G>C (p.Trp326Cys)
c.225G>C (p.Trp75Cys)
c.537G>C (p.Trp179Cys)
17g.3660243G>TCA397694005CTNSc.978G>T (p.Trp326Cys)
c.225G>T (p.Trp75Cys)
c.537G>T (p.Trp179Cys)
17g.3660244A>CCA397694010CTNSc.979A>C (p.Thr327Pro)
c.226A>C (p.Thr76Pro)
c.538A>C (p.Thr180Pro)
17g.3660244A>GCA397694012CTNSc.979A>G (p.Thr327Ala)
c.226A>G (p.Thr76Ala)
c.538A>G (p.Thr180Ala)
17g.3660244A>TCA397694013CTNSc.979A>T (p.Thr327Ser)
c.226A>T (p.Thr76Ser)
c.538A>T (p.Thr180Ser)
 gnomAD v4
17g.3660245C>ACA397694014CTNSc.980C>A (p.Thr327Lys)
c.227C>A (p.Thr76Lys)
c.539C>A (p.Thr180Lys)
 gnomAD v4
17g.3660245C=CA2243978914CTNSc.980C= (p.Thr327=)
c.227C= (p.Thr76=)
c.539C= (p.Thr180=)
17g.3660245C>GCA397694016CTNSc.980C>G (p.Thr327Arg)
c.227C>G (p.Thr76Arg)
c.539C>G (p.Thr180Arg)
17g.3660245C>TCA287022263CTNSc.980C>T (p.Thr327Met)
c.227C>T (p.Thr76Met)
c.539C>T (p.Thr180Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3660246G>ACA8292002CTNSc.981G>A (p.Thr327=)
c.228G>A (p.Thr76=)
c.540G>A (p.Thr180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660246G>CCA497466718CTNSc.981G>C (p.Thr327=)
c.228G>C (p.Thr76=)
c.540G>C (p.Thr180=)
 dbSNP
17g.3660246G=CA2243978916CTNSc.981G= (p.Thr327=)
c.228G= (p.Thr76=)
c.540G= (p.Thr180=)
17g.3660246G>TCA8292001CTNSc.981G>T (p.Thr327=)
c.228G>T (p.Thr76=)
c.540G>T (p.Thr180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3660247C>ACA397694021CTNSc.982C>A (p.Leu328Met)
c.229C>A (p.Leu77Met)
c.541C>A (p.Leu181Met)
17g.3660247C>GCA397694023CTNSc.982C>G (p.Leu328Val)
c.229C>G (p.Leu77Val)
c.541C>G (p.Leu181Val)
 ClinVar
17g.3660247C>TCA497466719CTNSc.982C>T (p.Leu328=)
c.229C>T (p.Leu77=)
c.541C>T (p.Leu181=)
17g.3660248T>ACA397694031CTNSc.983T>A (p.Leu328Gln)
c.230T>A (p.Leu77Gln)
c.542T>A (p.Leu181Gln)
17g.3660248T>CCA397694028CTNSc.983T>C (p.Leu328Pro)
c.230T>C (p.Leu77Pro)
c.542T>C (p.Leu181Pro)
 gnomAD v4
17g.3660248T>GCA397694026CTNSc.983T>G (p.Leu328Arg)
c.230T>G (p.Leu77Arg)
c.542T>G (p.Leu181Arg)
17g.3660249G>ACA497466720CTNSc.984G>A (p.Leu328=)
c.231G>A (p.Leu77=)
c.543G>A (p.Leu181=)
17g.3660249G>CCA497466721CTNSc.984G>C (p.Leu328=)
c.231G>C (p.Leu77=)
c.543G>C (p.Leu181=)
17g.3660249G>TCA497466722CTNSc.984G>T (p.Leu328=)
c.231G>T (p.Leu77=)
c.543G>T (p.Leu181=)
17g.3660250A>CCA397694035CTNSc.985A>C (p.Ile329Leu)
c.232A>C (p.Ile78Leu)
c.544A>C (p.Ile182Leu)
17g.3660250A>GCA397694036CTNSc.985A>G (p.Ile329Val)
c.232A>G (p.Ile78Val)
c.544A>G (p.Ile182Val)
 ClinVar
17g.3660250A>TCA397694038CTNSc.985A>T (p.Ile329Phe)
c.232A>T (p.Ile78Phe)
c.544A>T (p.Ile182Phe)
17g.3660251T>ACA397694040CTNSc.986T>A (p.Ile329Asn)
c.233T>A (p.Ile78Asn)
c.545T>A (p.Ile182Asn)
17g.3660251T>CCA397694041CTNSc.986T>C (p.Ile329Thr)
c.233T>C (p.Ile78Thr)
c.545T>C (p.Ile182Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.3660251T>GCA397694043CTNSc.986T>G (p.Ile329Ser)
c.233T>G (p.Ile78Ser)
c.545T>G (p.Ile182Ser)
17g.3660251T=CA2243978918CTNSc.986T= (p.Ile329=)
c.233T= (p.Ile78=)
c.545T= (p.Ile182=)
17g.3660252C>ACA497466723CTNSc.987C>A (p.Ile329=)
c.234C>A (p.Ile78=)
c.546C>A (p.Ile182=)
17g.3660252C>GCA397694045CTNSc.987C>G (p.Ile329Met)
c.234C>G (p.Ile78Met)
c.546C>G (p.Ile182Met)
17g.3660252C>TCA497466724CTNSc.987C>T (p.Ile329=)
c.234C>T (p.Ile78=)
c.546C>T (p.Ile182=)
 ClinVar dbSNP
17g.3660253T>ACA397694047CTNSc.988T>A (p.Phe330Ile)
c.235T>A (p.Phe79Ile)
c.547T>A (p.Phe183Ile)
17g.3660253T>CCA397694049CTNSc.988T>C (p.Phe330Leu)
c.235T>C (p.Phe79Leu)
c.547T>C (p.Phe183Leu)
17g.3660253T>GCA397694051CTNSc.988T>G (p.Phe330Val)
c.235T>G (p.Phe79Val)
c.547T>G (p.Phe183Val)
 gnomAD v4
17g.3660254T>ACA397694053CTNSc.989T>A (p.Phe330Tyr)
c.236T>A (p.Phe79Tyr)
c.548T>A (p.Phe183Tyr)
17g.3660254T>CCA397694054CTNSc.989T>C (p.Phe330Ser)
c.236T>C (p.Phe79Ser)
c.548T>C (p.Phe183Ser)
17g.3660254T>GCA397694056CTNSc.989T>G (p.Phe330Cys)
c.236T>G (p.Phe79Cys)
c.548T>G (p.Phe183Cys)
17g.3660255C>ACA287022275CTNSc.990C>A (p.Phe330Leu)
c.237C>A (p.Phe79Leu)
c.549C>A (p.Phe183Leu)
 dbSNP
17g.3660255C=CA2243978921CTNSc.990C= (p.Phe330=)
c.237C= (p.Phe79=)
c.549C= (p.Phe183=)
17g.3660255C>GCA397694058CTNSc.990C>G (p.Phe330Leu)
c.237C>G (p.Phe79Leu)
c.549C>G (p.Phe183Leu)
17g.3660255C>TCA8292003CTNSc.990C>T (p.Phe330=)
c.237C>T (p.Phe79=)
c.549C>T (p.Phe183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660256G>ACA8292004CTNSc.991G>A (p.Gly331Arg)
c.238G>A (p.Gly80Arg)
c.550G>A (p.Gly184Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660256G>CCA397694064CTNSc.991G>C (p.Gly331Arg)
c.238G>C (p.Gly80Arg)
c.550G>C (p.Gly184Arg)
17g.3660256G=CA2243978923CTNSc.991G= (p.Gly331=)
c.238G= (p.Gly80=)
c.550G= (p.Gly184=)
17g.3660256G>TCA397694066CTNSc.991G>T (p.Gly331Ter)
c.238G>T (p.Gly80Ter)
c.550G>T (p.Gly184Ter)
17g.3660257delCA2695224168CTNSc.992del (p.Gly331GlufsTer?)
c.239del (p.Gly80GlufsTer?)
c.551del (p.Gly184GlufsTer?)
17g.3660257G>ACA397694068CTNSc.992G>A (p.Gly331Glu)
c.239G>A (p.Gly80Glu)
c.551G>A (p.Gly184Glu)
17g.3660257G>CCA397694070CTNSc.992G>C (p.Gly331Ala)
c.239G>C (p.Gly80Ala)
c.551G>C (p.Gly184Ala)
17g.3660257G=CA2243978925CTNSc.992G= (p.Gly331=)
c.239G= (p.Gly80=)
c.551G= (p.Gly184=)
17g.3660257G>TCA397694072CTNSc.992G>T (p.Gly331Val)
c.239G>T (p.Gly80Val)
c.551G>T (p.Gly184Val)
 dbSNP gnomAD v4
17g.3660258A>CCA497466725CTNSc.993A>C (p.Gly331=)
c.240A>C (p.Gly80=)
c.552A>C (p.Gly184=)
17g.3660258A>GCA497466726CTNSc.993A>G (p.Gly331=)
c.240A>G (p.Gly80=)
c.552A>G (p.Gly184=)
17g.3660258A>TCA497466727CTNSc.993A>T (p.Gly331=)
c.240A>T (p.Gly80=)
c.552A>T (p.Gly184=)
17g.3660259G>ACA397694074CTNSc.994G>A (p.Asp332Asn)
c.241G>A (p.Asp81Asn)
c.553G>A (p.Asp185Asn)
17g.3660259G>CCA397694076CTNSc.994G>C (p.Asp332His)
c.241G>C (p.Asp81His)
c.553G>C (p.Asp185His)
 gnomAD v4
17g.3660259G>TCA397694078CTNSc.994G>T (p.Asp332Tyr)
c.241G>T (p.Asp81Tyr)
c.553G>T (p.Asp185Tyr)
 gnomAD v4
17g.3660260A>CCA397694080CTNSc.995A>C (p.Asp332Ala)
c.242A>C (p.Asp81Ala)
c.554A>C (p.Asp185Ala)
 gnomAD v4
17g.3660260A>GCA397694081CTNSc.995A>G (p.Asp332Gly)
c.242A>G (p.Asp81Gly)
c.554A>G (p.Asp185Gly)
17g.3660260A>TCA397694083CTNSc.995A>T (p.Asp332Val)
c.242A>T (p.Asp81Val)
c.554A>T (p.Asp185Val)
17g.3660261C>ACA397694085CTNSc.996C>A (p.Asp332Glu)
c.243C>A (p.Asp81Glu)
c.555C>A (p.Asp185Glu)
17g.3660261C=CA2243978926CTNSc.996C= (p.Asp332=)
c.243C= (p.Asp81=)
c.555C= (p.Asp185=)
17g.3660261C>GCA8292005CTNSc.996C>G (p.Asp332Glu)
c.243C>G (p.Asp81Glu)
c.555C>G (p.Asp185Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3660261C>TCA497466728CTNSc.996C>T (p.Asp332=)
c.243C>T (p.Asp81=)
c.555C>T (p.Asp185=)
17g.3660262C>ACA397694089CTNSc.997C>A (p.Pro333Thr)
c.244C>A (p.Pro82Thr)
c.556C>A (p.Pro186Thr)
17g.3660262C>GCA397694092CTNSc.997C>G (p.Pro333Ala)
c.244C>G (p.Pro82Ala)
c.556C>G (p.Pro186Ala)
17g.3660262C>TCA397694090CTNSc.997C>T (p.Pro333Ser)
c.244C>T (p.Pro82Ser)
c.556C>T (p.Pro186Ser)
 gnomAD v4
17g.3660263C>ACA397694095CTNSc.998C>A (p.Pro333Gln)
c.245C>A (p.Pro82Gln)
c.557C>A (p.Pro186Gln)
17g.3660263C>GCA397694099CTNSc.998C>G (p.Pro333Arg)
c.245C>G (p.Pro82Arg)
c.557C>G (p.Pro186Arg)
17g.3660263C>TCA397694097CTNSc.998C>T (p.Pro333Leu)
c.245C>T (p.Pro82Leu)
c.557C>T (p.Pro186Leu)
17g.3660264A>CCA497466729CTNSc.999A>C (p.Pro333=)
c.246A>C (p.Pro82=)
c.558A>C (p.Pro186=)
17g.3660264A>GCA497466730CTNSc.999A>G (p.Pro333=)
c.246A>G (p.Pro82=)
c.558A>G (p.Pro186=)
 ClinVar
17g.3660264A>TCA497466731CTNSc.999A>T (p.Pro333=)
c.246A>T (p.Pro82=)
c.558A>T (p.Pro186=)
17g.3660265delCA2573153072CTNSc.1000del (p.Thr334ProfsTer?)
c.247del (p.Thr83ProfsTer?)
c.559del (p.Thr187ProfsTer?)
 ClinVar dbSNP gnomAD v4
17g.3660265A=CA2243978927CTNSc.1000A= (p.Thr334=)
c.247A= (p.Thr83=)
c.559A= (p.Thr187=)
17g.3660265A>CCA397694101CTNSc.1000A>C (p.Thr334Pro)
c.247A>C (p.Thr83Pro)
c.559A>C (p.Thr187Pro)
17g.3660265A>GCA397694106CTNSc.1000A>G (p.Thr334Ala)
c.247A>G (p.Thr83Ala)
c.559A>G (p.Thr187Ala)
 dbSNP gnomAD v4
17g.3660265A>TCA397694103CTNSc.1000A>T (p.Thr334Ser)
c.247A>T (p.Thr83Ser)
c.559A>T (p.Thr187Ser)
17g.3660266C>ACA397694109CTNSc.1001C>A (p.Thr334Asn)
c.248C>A (p.Thr83Asn)
c.560C>A (p.Thr187Asn)
17g.3660266C=CA2243978930CTNSc.1001C= (p.Thr334=)
c.248C= (p.Thr83=)
c.560C= (p.Thr187=)
17g.3660266C>GCA397694111CTNSc.1001C>G (p.Thr334Ser)
c.248C>G (p.Thr83Ser)
c.560C>G (p.Thr187Ser)
17g.3660266C>TCA8292006CTNSc.1001C>T (p.Thr334Ile)
c.248C>T (p.Thr83Ile)
c.560C>T (p.Thr187Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3660267C>ACA497466734CTNSc.1002C>A (p.Thr334=)
c.249C>A (p.Thr83=)
c.561C>A (p.Thr187=)
17g.3660267C=CA2243978931CTNSc.1002C= (p.Thr334=)
c.249C= (p.Thr83=)
c.561C= (p.Thr187=)
17g.3660267C>GCA497466733CTNSc.1002C>G (p.Thr334=)
c.249C>G (p.Thr83=)
c.561C>G (p.Thr187=)
 dbSNP gnomAD v2 gnomAD v4
17g.3660267C>TCA497466732CTNSc.1002C>T (p.Thr334=)
c.249C>T (p.Thr83=)
c.561C>T (p.Thr187=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.3660268A>CCA397694113CTNSc.1003A>C (p.Lys335Gln)
c.250A>C (p.Lys84Gln)
c.562A>C (p.Lys188Gln)
 gnomAD v4
17g.3660268A>GCA397694115CTNSc.1003A>G (p.Lys335Glu)
c.250A>G (p.Lys84Glu)
c.562A>G (p.Lys188Glu)
 dbSNP
17g.3660268A>TCA397694117CTNSc.1003A>T (p.Lys335Ter)
c.250A>T (p.Lys84Ter)
c.562A>T (p.Lys188Ter)
17g.3660269A>CCA397694119CTNSc.1004A>C (p.Lys335Thr)
c.251A>C (p.Lys84Thr)
c.563A>C (p.Lys188Thr)
17g.3660269A>GCA397694120CTNSc.1004A>G (p.Lys335Arg)
c.251A>G (p.Lys84Arg)
c.563A>G (p.Lys188Arg)
17g.3660269A>TCA397694122CTNSc.1004A>T (p.Lys335Met)
c.251A>T (p.Lys84Met)
c.563A>T (p.Lys188Met)
17g.3660270G>ACA497466735CTNSc.1005G>A (p.Lys335=)
c.252G>A (p.Lys84=)
c.564G>A (p.Lys188=)
17g.3660270G>CCA397694124CTNSc.1005G>C (p.Lys335Asn)
c.252G>C (p.Lys84Asn)
c.564G>C (p.Lys188Asn)
17g.3660270G>TCA397694126CTNSc.1005G>T (p.Lys335Asn)
c.252G>T (p.Lys84Asn)
c.564G>T (p.Lys188Asn)
17g.3660271T>ACA397694128CTNSc.1006T>A (p.Phe336Ile)
c.253T>A (p.Phe85Ile)
c.565T>A (p.Phe189Ile)
17g.3660271T>CCA397694130CTNSc.1006T>C (p.Phe336Leu)
c.253T>C (p.Phe85Leu)
c.565T>C (p.Phe189Leu)
17g.3660271T>GCA397694131CTNSc.1006T>G (p.Phe336Val)
c.253T>G (p.Phe85Val)
c.565T>G (p.Phe189Val)
17g.3660272T>ACA8292007CTNSc.1007T>A (p.Phe336Tyr)
c.254T>A (p.Phe85Tyr)
c.566T>A (p.Phe189Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660272T>CCA397694136CTNSc.1007T>C (p.Phe336Ser)
c.254T>C (p.Phe85Ser)
c.566T>C (p.Phe189Ser)
 ClinVar gnomAD v4
17g.3660272T>GCA397694134CTNSc.1007T>G (p.Phe336Cys)
c.254T>G (p.Phe85Cys)
c.566T>G (p.Phe189Cys)
17g.3660272T=CA2243978932CTNSc.1007T= (p.Phe336=)
c.254T= (p.Phe85=)
c.566T= (p.Phe189=)
17g.3660273T>ACA397694138CTNSc.1008T>A (p.Phe336Leu)
c.255T>A (p.Phe85Leu)
c.567T>A (p.Phe189Leu)
 gnomAD v4
17g.3660273T>CCA497466736CTNSc.1008T>C (p.Phe336=)
c.255T>C (p.Phe85=)
c.567T>C (p.Phe189=)
17g.3660273T>GCA8292008CTNSc.1008T>G (p.Phe336Leu)
c.255T>G (p.Phe85Leu)
c.567T>G (p.Phe189Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660273T=CA2243978935CTNSc.1008T= (p.Phe336=)
c.255T= (p.Phe85=)
c.567T= (p.Phe189=)
17g.3660274G>ACA397694141CTNSc.1009G>A (p.Gly337Arg)
c.256G>A (p.Gly86Arg)
c.568G>A (p.Gly190Arg)
17g.3660274G>CCA397694143CTNSc.1009G>C (p.Gly337Arg)
c.256G>C (p.Gly86Arg)
c.568G>C (p.Gly190Arg)
 gnomAD v4
17g.3660274G>TCA397694145CTNSc.1009G>T (p.Gly337Ter)
c.256G>T (p.Gly86Ter)
c.568G>T (p.Gly190Ter)
17g.3660275G>ACA397694147CTNSc.1010G>A (p.Gly337Glu)
c.257G>A (p.Gly86Glu)
c.569G>A (p.Gly190Glu)
17g.3660275G>CCA397694150CTNSc.1010G>C (p.Gly337Ala)
c.257G>C (p.Gly86Ala)
c.569G>C (p.Gly190Ala)
17g.3660275G>TCA397694152CTNSc.1010G>T (p.Gly337Val)
c.257G>T (p.Gly86Val)
c.569G>T (p.Gly190Val)
17g.3660276A=CA2243978936CTNSc.1011A= (p.Gly337=)
c.258A= (p.Gly86=)
c.570A= (p.Gly190=)
17g.3660276A>CCA497466737CTNSc.1011A>C (p.Gly337=)
c.258A>C (p.Gly86=)
c.570A>C (p.Gly190=)
17g.3660276A>GCA497466738CTNSc.1011A>G (p.Gly337=)
c.258A>G (p.Gly86=)
c.570A>G (p.Gly190=)
17g.3660276A>TCA497466739CTNSc.1011A>T (p.Gly337=)
c.258A>T (p.Gly86=)
c.570A>T (p.Gly190=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3660277C>ACA397694155CTNSc.1012C>A (p.Leu338Ile)
c.259C>A (p.Leu87Ile)
c.571C>A (p.Leu191Ile)
17g.3660277C>GCA397694156CTNSc.1012C>G (p.Leu338Val)
c.259C>G (p.Leu87Val)
c.571C>G (p.Leu191Val)
17g.3660277C>TCA397694157CTNSc.1012C>T (p.Leu338Phe)
c.259C>T (p.Leu87Phe)
c.571C>T (p.Leu191Phe)
17g.3660278T>ACA397694164CTNSc.1013T>A (p.Leu338His)
c.260T>A (p.Leu87His)
c.572T>A (p.Leu191His)
17g.3660278T>CCA397694162CTNSc.1013T>C (p.Leu338Pro)
c.260T>C (p.Leu87Pro)
c.572T>C (p.Leu191Pro)
 gnomAD v4
17g.3660278T>GCA397694160CTNSc.1013T>G (p.Leu338Arg)
c.260T>G (p.Leu87Arg)
c.572T>G (p.Leu191Arg)
17g.3660279C>ACA497466740CTNSc.1014C>A (p.Leu338=)
c.261C>A (p.Leu87=)
c.573C>A (p.Leu191=)
17g.3660279C=CA2243978940CTNSc.1014C= (p.Leu338=)
c.261C= (p.Leu87=)
c.573C= (p.Leu191=)
17g.3660279C>GCA287022307CTNSc.1014C>G (p.Leu338=)
c.261C>G (p.Leu87=)
c.573C>G (p.Leu191=)
 ClinVar dbSNP
17g.3660279C>TCA8292009CTNSc.1014C>T (p.Leu338=)
c.261C>T (p.Leu87=)
c.573C>T (p.Leu191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660280G>ACA278067CTNSc.1015G>A (p.Gly339Arg)
c.262G>A (p.Gly88Arg)
c.574G>A (p.Gly192Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3660280G>CCA397694169CTNSc.1015G>C (p.Gly339Arg)
c.262G>C (p.Gly88Arg)
c.574G>C (p.Gly192Arg)
17g.3660280G=CA2243978942CTNSc.1015G= (p.Gly339=)
c.262G= (p.Gly88=)
c.574G= (p.Gly192=)
17g.3660280G>TCA397694171CTNSc.1015G>T (p.Gly339Trp)
c.262G>T (p.Gly88Trp)
c.574G>T (p.Gly192Trp)

Number of alleles fetched