Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.133133470A>CCA372252960TGc.7998A>C (p.Gly2666=)
c.3364A>C
c.2397A>C (p.Gly799=)
c.210A>C (p.Arg70Ser)
n.84A>C
c.4653A>C
c.7806A>C (p.Gly2602=)
c.7935A>C (p.Gly2645=)
c.7932A>C (p.Gly2644=)
c.7863A>C (p.Arg2621Ser)
c.7827A>C (p.Gly2609=)
c.7779A>C (p.Gly2593=)
c.7737A>C (p.Gly2579=)
8g.133133470A>GCA463016976TGc.7998A>G (p.Gly2666=)
c.3364A>G
c.2397A>G (p.Gly799=)
c.210A>G (p.Arg70=)
n.84A>G
c.4653A>G
c.7806A>G (p.Gly2602=)
c.7935A>G (p.Gly2645=)
c.7932A>G (p.Gly2644=)
c.7863A>G (p.Arg2621=)
c.7827A>G (p.Gly2609=)
c.7779A>G (p.Gly2593=)
c.7737A>G (p.Gly2579=)
8g.133133470A>TCA372252962TGc.7998A>T (p.Gly2666=)
c.3364A>T
c.2397A>T (p.Gly799=)
c.210A>T (p.Arg70Ser)
n.84A>T
c.4653A>T
c.7806A>T (p.Gly2602=)
c.7935A>T (p.Gly2645=)
c.7932A>T (p.Gly2644=)
c.7863A>T (p.Arg2621Ser)
c.7827A>T (p.Gly2609=)
c.7779A>T (p.Gly2593=)
c.7737A>T (p.Gly2579=)
8g.133133472delCA2697550173TGc.8000del (p.Asn2667IlefsTer?)
c.3366del
c.2399del (p.Asn800IlefsTer?)
c.212del (p.Asn71IlefsTer?)
n.86del
c.4655del
c.7808del (p.Asn2603IlefsTer?)
c.7937del (p.Asn2646IlefsTer?)
c.7934del (p.Asn2645IlefsTer?)
c.7865del (p.Asn2622IlefsTer?)
c.7829del (p.Asn2610IlefsTer?)
c.7781del (p.Asn2594IlefsTer?)
c.7739del (p.Asn2580IlefsTer?)
 ClinVar
8g.133133471A>CCA372252964TGc.7999A>C (p.Asn2667His)
c.3365A>C
c.2398A>C (p.Asn800His)
c.211A>C (p.Asn71His)
n.85A>C
c.4654A>C
c.7807A>C (p.Asn2603His)
c.7936A>C (p.Asn2646His)
c.7933A>C (p.Asn2645His)
c.7864A>C (p.Asn2622His)
c.7828A>C (p.Asn2610His)
c.7780A>C (p.Asn2594His)
c.7738A>C (p.Asn2580His)
8g.133133471A>GCA372252968TGc.7999A>G (p.Asn2667Asp)
c.3365A>G
c.2398A>G (p.Asn800Asp)
c.211A>G (p.Asn71Asp)
n.85A>G
c.4654A>G
c.7807A>G (p.Asn2603Asp)
c.7936A>G (p.Asn2646Asp)
c.7933A>G (p.Asn2645Asp)
c.7864A>G (p.Asn2622Asp)
c.7828A>G (p.Asn2610Asp)
c.7780A>G (p.Asn2594Asp)
c.7738A>G (p.Asn2580Asp)
8g.133133471A>TCA372252966TGc.7999A>T (p.Asn2667Tyr)
c.3365A>T
c.2398A>T (p.Asn800Tyr)
c.211A>T (p.Asn71Tyr)
n.85A>T
c.4654A>T
c.7807A>T (p.Asn2603Tyr)
c.7936A>T (p.Asn2646Tyr)
c.7933A>T (p.Asn2645Tyr)
c.7864A>T (p.Asn2622Tyr)
c.7828A>T (p.Asn2610Tyr)
c.7780A>T (p.Asn2594Tyr)
c.7738A>T (p.Asn2580Tyr)
8g.133133472A>CCA372252970TGc.8000A>C (p.Asn2667Thr)
c.3366A>C
c.2399A>C (p.Asn800Thr)
c.212A>C (p.Asn71Thr)
n.86A>C
c.4655A>C
c.7808A>C (p.Asn2603Thr)
c.7937A>C (p.Asn2646Thr)
c.7934A>C (p.Asn2645Thr)
c.7865A>C (p.Asn2622Thr)
c.7829A>C (p.Asn2610Thr)
c.7781A>C (p.Asn2594Thr)
c.7739A>C (p.Asn2580Thr)
8g.133133472A>GCA372252972TGc.8000A>G (p.Asn2667Ser)
c.3366A>G
c.2399A>G (p.Asn800Ser)
c.212A>G (p.Asn71Ser)
n.86A>G
c.4655A>G
c.7808A>G (p.Asn2603Ser)
c.7937A>G (p.Asn2646Ser)
c.7934A>G (p.Asn2645Ser)
c.7865A>G (p.Asn2622Ser)
c.7829A>G (p.Asn2610Ser)
c.7781A>G (p.Asn2594Ser)
c.7739A>G (p.Asn2580Ser)
8g.133133472A>TCA372252974TGc.8000A>T (p.Asn2667Ile)
c.3366A>T
c.2399A>T (p.Asn800Ile)
c.212A>T (p.Asn71Ile)
n.86A>T
c.4655A>T
c.7808A>T (p.Asn2603Ile)
c.7937A>T (p.Asn2646Ile)
c.7934A>T (p.Asn2645Ile)
c.7865A>T (p.Asn2622Ile)
c.7829A>T (p.Asn2610Ile)
c.7781A>T (p.Asn2594Ile)
c.7739A>T (p.Asn2580Ile)
8g.133133473T>ACA372252976TGc.8001T>A (p.Asn2667Lys)
c.3367T>A
c.2400T>A (p.Asn800Lys)
c.213T>A (p.Asn71Lys)
n.87T>A
c.4656T>A
c.7809T>A (p.Asn2603Lys)
c.7938T>A (p.Asn2646Lys)
c.7935T>A (p.Asn2645Lys)
c.7866T>A (p.Asn2622Lys)
c.7830T>A (p.Asn2610Lys)
c.7782T>A (p.Asn2594Lys)
c.7740T>A (p.Asn2580Lys)
8g.133133473T>CCA463016977TGc.8001T>C (p.Asn2667=)
c.3367T>C
c.2400T>C (p.Asn800=)
c.213T>C (p.Asn71=)
n.87T>C
c.4656T>C
c.7809T>C (p.Asn2603=)
c.7938T>C (p.Asn2646=)
c.7935T>C (p.Asn2645=)
c.7866T>C (p.Asn2622=)
c.7830T>C (p.Asn2610=)
c.7782T>C (p.Asn2594=)
c.7740T>C (p.Asn2580=)
 dbSNP gnomAD v3 gnomAD v4
8g.133133473T>GCA372252978TGc.8001T>G (p.Asn2667Lys)
c.3367T>G
c.2400T>G (p.Asn800Lys)
c.213T>G (p.Asn71Lys)
n.87T>G
c.4656T>G
c.7809T>G (p.Asn2603Lys)
c.7938T>G (p.Asn2646Lys)
c.7935T>G (p.Asn2645Lys)
c.7866T>G (p.Asn2622Lys)
c.7830T>G (p.Asn2610Lys)
c.7782T>G (p.Asn2594Lys)
c.7740T>G (p.Asn2580Lys)
8g.133133473T=CA1821104883TGc.8001T= (p.Asn2667=)
c.3367T=
c.2400T= (p.Asn800=)
c.213T= (p.Asn71=)
n.87T=
c.4656T=
c.7809T= (p.Asn2603=)
c.7938T= (p.Asn2646=)
c.7935T= (p.Asn2645=)
c.7866T= (p.Asn2622=)
c.7830T= (p.Asn2610=)
c.7782T= (p.Asn2594=)
c.7740T= (p.Asn2580=)
8g.133133474C>ACA372252980TGc.8002C>A (p.Pro2668Thr)
c.3368C>A
c.2401C>A (p.Pro801Thr)
c.214C>A (p.Pro72Thr)
n.88C>A
c.4657C>A
c.7810C>A (p.Pro2604Thr)
c.7939C>A (p.Pro2647Thr)
c.7936C>A (p.Pro2646Thr)
c.7867C>A (p.Pro2623Thr)
c.7831C>A (p.Pro2611Thr)
c.7783C>A (p.Pro2595Thr)
c.7741C>A (p.Pro2581Thr)
8g.133133474C>GCA372252981TGc.8002C>G (p.Pro2668Ala)
c.3368C>G
c.2401C>G (p.Pro801Ala)
c.214C>G (p.Pro72Ala)
n.88C>G
c.4657C>G
c.7810C>G (p.Pro2604Ala)
c.7939C>G (p.Pro2647Ala)
c.7936C>G (p.Pro2646Ala)
c.7867C>G (p.Pro2623Ala)
c.7831C>G (p.Pro2611Ala)
c.7783C>G (p.Pro2595Ala)
c.7741C>G (p.Pro2581Ala)
 gnomAD v4
8g.133133474C>TCA372252983TGc.8002C>T (p.Pro2668Ser)
c.3368C>T
c.2401C>T (p.Pro801Ser)
c.214C>T (p.Pro72Ser)
n.88C>T
c.4657C>T
c.7810C>T (p.Pro2604Ser)
c.7939C>T (p.Pro2647Ser)
c.7936C>T (p.Pro2646Ser)
c.7867C>T (p.Pro2623Ser)
c.7831C>T (p.Pro2611Ser)
c.7783C>T (p.Pro2595Ser)
c.7741C>T (p.Pro2581Ser)
 COSMIC
8g.133133475C>ACA372252986TGc.8003C>A (p.Pro2668His)
c.3369C>A
c.2402C>A (p.Pro801His)
c.215C>A (p.Pro72His)
n.89C>A
c.4658C>A
c.7811C>A (p.Pro2604His)
c.7940C>A (p.Pro2647His)
c.7937C>A (p.Pro2646His)
c.7868C>A (p.Pro2623His)
c.7832C>A (p.Pro2611His)
c.7784C>A (p.Pro2595His)
c.7742C>A (p.Pro2581His)
8g.133133475C=CA1821104884TGc.8003C= (p.Pro2668=)
c.3369C=
c.2402C= (p.Pro801=)
c.215C= (p.Pro72=)
n.89C=
c.4658C=
c.7811C= (p.Pro2604=)
c.7940C= (p.Pro2647=)
c.7937C= (p.Pro2646=)
c.7868C= (p.Pro2623=)
c.7832C= (p.Pro2611=)
c.7784C= (p.Pro2595=)
c.7742C= (p.Pro2581=)
8g.133133475C>GCA372252987TGc.8003C>G (p.Pro2668Arg)
c.3369C>G
c.2402C>G (p.Pro801Arg)
c.215C>G (p.Pro72Arg)
n.89C>G
c.4658C>G
c.7811C>G (p.Pro2604Arg)
c.7940C>G (p.Pro2647Arg)
c.7937C>G (p.Pro2646Arg)
c.7868C>G (p.Pro2623Arg)
c.7832C>G (p.Pro2611Arg)
c.7784C>G (p.Pro2595Arg)
c.7742C>G (p.Pro2581Arg)
8g.133133475C>TCA372252989TGc.8003C>T (p.Pro2668Leu)
c.3369C>T
c.2402C>T (p.Pro801Leu)
c.215C>T (p.Pro72Leu)
n.89C>T
c.4658C>T
c.7811C>T (p.Pro2604Leu)
c.7940C>T (p.Pro2647Leu)
c.7937C>T (p.Pro2646Leu)
c.7868C>T (p.Pro2623Leu)
c.7832C>T (p.Pro2611Leu)
c.7784C>T (p.Pro2595Leu)
c.7742C>T (p.Pro2581Leu)
 dbSNP
8g.133133476C>ACA463016983TGc.8004C>A (p.Pro2668=)
c.3370C>A
c.2403C>A (p.Pro801=)
c.216C>A (p.Pro72=)
n.90C>A
c.4659C>A
c.7812C>A (p.Pro2604=)
c.7941C>A (p.Pro2647=)
c.7938C>A (p.Pro2646=)
c.7869C>A (p.Pro2623=)
c.7833C>A (p.Pro2611=)
c.7785C>A (p.Pro2595=)
c.7743C>A (p.Pro2581=)
 gnomAD v4
8g.133133476C>GCA463016982TGc.8004C>G (p.Pro2668=)
c.3370C>G
c.2403C>G (p.Pro801=)
c.216C>G (p.Pro72=)
n.90C>G
c.4659C>G
c.7812C>G (p.Pro2604=)
c.7941C>G (p.Pro2647=)
c.7938C>G (p.Pro2646=)
c.7869C>G (p.Pro2623=)
c.7833C>G (p.Pro2611=)
c.7785C>G (p.Pro2595=)
c.7743C>G (p.Pro2581=)
8g.133133476C>TCA463016981TGc.8004C>T (p.Pro2668=)
c.3370C>T
c.2403C>T (p.Pro801=)
c.216C>T (p.Pro72=)
n.90C>T
c.4659C>T
c.7812C>T (p.Pro2604=)
c.7941C>T (p.Pro2647=)
c.7938C>T (p.Pro2646=)
c.7869C>T (p.Pro2623=)
c.7833C>T (p.Pro2611=)
c.7785C>T (p.Pro2595=)
c.7743C>T (p.Pro2581=)
8g.133133477A=CA1821104885TGc.8005A= (p.Asn2669=)
c.3371A=
c.2404A= (p.Asn802=)
c.217A= (p.Asn73=)
n.91A=
c.4660A=
c.7813A= (p.Asn2605=)
c.7942A= (p.Asn2648=)
c.7939A= (p.Asn2647=)
c.7870A= (p.Asn2624=)
c.7834A= (p.Asn2612=)
c.7786A= (p.Asn2596=)
c.7744A= (p.Asn2582=)
8g.133133477A>CCA372252991TGc.8005A>C (p.Asn2669His)
c.3371A>C
c.2404A>C (p.Asn802His)
c.217A>C (p.Asn73His)
n.91A>C
c.4660A>C
c.7813A>C (p.Asn2605His)
c.7942A>C (p.Asn2648His)
c.7939A>C (p.Asn2647His)
c.7870A>C (p.Asn2624His)
c.7834A>C (p.Asn2612His)
c.7786A>C (p.Asn2596His)
c.7744A>C (p.Asn2582His)
8g.133133477A>GCA372252995TGc.8005A>G (p.Asn2669Asp)
c.3371A>G
c.2404A>G (p.Asn802Asp)
c.217A>G (p.Asn73Asp)
n.91A>G
c.4660A>G
c.7813A>G (p.Asn2605Asp)
c.7942A>G (p.Asn2648Asp)
c.7939A>G (p.Asn2647Asp)
c.7870A>G (p.Asn2624Asp)
c.7834A>G (p.Asn2612Asp)
c.7786A>G (p.Asn2596Asp)
c.7744A>G (p.Asn2582Asp)
 dbSNP
8g.133133477A>TCA372252993TGc.8005A>T (p.Asn2669Tyr)
c.3371A>T
c.2404A>T (p.Asn802Tyr)
c.217A>T (p.Asn73Tyr)
n.91A>T
c.4660A>T
c.7813A>T (p.Asn2605Tyr)
c.7942A>T (p.Asn2648Tyr)
c.7939A>T (p.Asn2647Tyr)
c.7870A>T (p.Asn2624Tyr)
c.7834A>T (p.Asn2612Tyr)
c.7786A>T (p.Asn2596Tyr)
c.7744A>T (p.Asn2582Tyr)
8g.133133478A=CA1821104886TGc.8006A= (p.Asn2669=)
c.3372A=
c.2405A= (p.Asn802=)
c.218A= (p.Asn73=)
n.92A=
c.4661A=
c.7814A= (p.Asn2605=)
c.7943A= (p.Asn2648=)
c.7940A= (p.Asn2647=)
c.7871A= (p.Asn2624=)
c.7835A= (p.Asn2612=)
c.7787A= (p.Asn2596=)
c.7745A= (p.Asn2582=)
8g.133133478A>CCA372252996TGc.8006A>C (p.Asn2669Thr)
c.3372A>C
c.2405A>C (p.Asn802Thr)
c.218A>C (p.Asn73Thr)
n.92A>C
c.4661A>C
c.7814A>C (p.Asn2605Thr)
c.7943A>C (p.Asn2648Thr)
c.7940A>C (p.Asn2647Thr)
c.7871A>C (p.Asn2624Thr)
c.7835A>C (p.Asn2612Thr)
c.7787A>C (p.Asn2596Thr)
c.7745A>C (p.Asn2582Thr)
8g.133133478A>GCA4885873TGc.8006A>G (p.Asn2669Ser)
c.3372A>G
c.2405A>G (p.Asn802Ser)
c.218A>G (p.Asn73Ser)
n.92A>G
c.4661A>G
c.7814A>G (p.Asn2605Ser)
c.7943A>G (p.Asn2648Ser)
c.7940A>G (p.Asn2647Ser)
c.7871A>G (p.Asn2624Ser)
c.7835A>G (p.Asn2612Ser)
c.7787A>G (p.Asn2596Ser)
c.7745A>G (p.Asn2582Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133478A>TCA372252998TGc.8006A>T (p.Asn2669Ile)
c.3372A>T
c.2405A>T (p.Asn802Ile)
c.218A>T (p.Asn73Ile)
n.92A>T
c.4661A>T
c.7814A>T (p.Asn2605Ile)
c.7943A>T (p.Asn2648Ile)
c.7940A>T (p.Asn2647Ile)
c.7871A>T (p.Asn2624Ile)
c.7835A>T (p.Asn2612Ile)
c.7787A>T (p.Asn2596Ile)
c.7745A>T (p.Asn2582Ile)
 gnomAD v4
8g.133133479C>ACA372253001TGc.8007C>A (p.Asn2669Lys)
c.3373C>A
c.2406C>A (p.Asn802Lys)
c.219C>A (p.Asn73Lys)
n.93C>A
c.4662C>A
c.7815C>A (p.Asn2605Lys)
c.7944C>A (p.Asn2648Lys)
c.7941C>A (p.Asn2647Lys)
c.7872C>A (p.Asn2624Lys)
c.7836C>A (p.Asn2612Lys)
c.7788C>A (p.Asn2596Lys)
c.7746C>A (p.Asn2582Lys)
8g.133133479C>GCA372253003TGc.8007C>G (p.Asn2669Lys)
c.3373C>G
c.2406C>G (p.Asn802Lys)
c.219C>G (p.Asn73Lys)
n.93C>G
c.4662C>G
c.7815C>G (p.Asn2605Lys)
c.7944C>G (p.Asn2648Lys)
c.7941C>G (p.Asn2647Lys)
c.7872C>G (p.Asn2624Lys)
c.7836C>G (p.Asn2612Lys)
c.7788C>G (p.Asn2596Lys)
c.7746C>G (p.Asn2582Lys)
8g.133133479C>TCA463016988TGc.8007C>T (p.Asn2669=)
c.3373C>T
c.2406C>T (p.Asn802=)
c.219C>T (p.Asn73=)
n.93C>T
c.4662C>T
c.7815C>T (p.Asn2605=)
c.7944C>T (p.Asn2648=)
c.7941C>T (p.Asn2647=)
c.7872C>T (p.Asn2624=)
c.7836C>T (p.Asn2612=)
c.7788C>T (p.Asn2596=)
c.7746C>T (p.Asn2582=)
 gnomAD v4
8g.133133480T>ACA4885874TGc.8008T>A (p.Tyr2670Asn)
c.3374T>A
c.2407T>A (p.Tyr803Asn)
c.220T>A (p.Tyr74Asn)
n.94T>A
c.4663T>A
c.7816T>A (p.Tyr2606Asn)
c.7945T>A (p.Tyr2649Asn)
c.7942T>A (p.Tyr2648Asn)
c.7873T>A (p.Tyr2625Asn)
c.7837T>A (p.Tyr2613Asn)
c.7789T>A (p.Tyr2597Asn)
c.7747T>A (p.Tyr2583Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133480T>CCA372253005TGc.8008T>C (p.Tyr2670His)
c.3374T>C
c.2407T>C (p.Tyr803His)
c.220T>C (p.Tyr74His)
n.94T>C
c.4663T>C
c.7816T>C (p.Tyr2606His)
c.7945T>C (p.Tyr2649His)
c.7942T>C (p.Tyr2648His)
c.7873T>C (p.Tyr2625His)
c.7837T>C (p.Tyr2613His)
c.7789T>C (p.Tyr2597His)
c.7747T>C (p.Tyr2583His)
8g.133133480T>GCA372253007TGc.8008T>G (p.Tyr2670Asp)
c.3374T>G
c.2407T>G (p.Tyr803Asp)
c.220T>G (p.Tyr74Asp)
n.94T>G
c.4663T>G
c.7816T>G (p.Tyr2606Asp)
c.7945T>G (p.Tyr2649Asp)
c.7942T>G (p.Tyr2648Asp)
c.7873T>G (p.Tyr2625Asp)
c.7837T>G (p.Tyr2613Asp)
c.7789T>G (p.Tyr2597Asp)
c.7747T>G (p.Tyr2583Asp)
8g.133133480T=CA1821104887TGc.8008T= (p.Tyr2670=)
c.3374T=
c.2407T= (p.Tyr803=)
c.220T= (p.Tyr74=)
n.94T=
c.4663T=
c.7816T= (p.Tyr2606=)
c.7945T= (p.Tyr2649=)
c.7942T= (p.Tyr2648=)
c.7873T= (p.Tyr2625=)
c.7837T= (p.Tyr2613=)
c.7789T= (p.Tyr2597=)
c.7747T= (p.Tyr2583=)
8g.133133481A=CA1821104888TGc.8009A= (p.Tyr2670=)
c.3375A=
c.2408A= (p.Tyr803=)
c.221A= (p.Tyr74=)
n.95A=
c.4664A=
c.7817A= (p.Tyr2606=)
c.7946A= (p.Tyr2649=)
c.7943A= (p.Tyr2648=)
c.7874A= (p.Tyr2625=)
c.7838A= (p.Tyr2613=)
c.7790A= (p.Tyr2597=)
c.7748A= (p.Tyr2583=)
8g.133133481A>CCA372253008TGc.8009A>C (p.Tyr2670Ser)
c.3375A>C
c.2408A>C (p.Tyr803Ser)
c.221A>C (p.Tyr74Ser)
n.95A>C
c.4664A>C
c.7817A>C (p.Tyr2606Ser)
c.7946A>C (p.Tyr2649Ser)
c.7943A>C (p.Tyr2648Ser)
c.7874A>C (p.Tyr2625Ser)
c.7838A>C (p.Tyr2613Ser)
c.7790A>C (p.Tyr2597Ser)
c.7748A>C (p.Tyr2583Ser)
8g.133133481A>GCA4885875TGc.8009A>G (p.Tyr2670Cys)
c.3375A>G
c.2408A>G (p.Tyr803Cys)
c.221A>G (p.Tyr74Cys)
n.95A>G
c.4664A>G
c.7817A>G (p.Tyr2606Cys)
c.7946A>G (p.Tyr2649Cys)
c.7943A>G (p.Tyr2648Cys)
c.7874A>G (p.Tyr2625Cys)
c.7838A>G (p.Tyr2613Cys)
c.7790A>G (p.Tyr2597Cys)
c.7748A>G (p.Tyr2583Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133481A>TCA372253010TGc.8009A>T (p.Tyr2670Phe)
c.3375A>T
c.2408A>T (p.Tyr803Phe)
c.221A>T (p.Tyr74Phe)
n.95A>T
c.4664A>T
c.7817A>T (p.Tyr2606Phe)
c.7946A>T (p.Tyr2649Phe)
c.7943A>T (p.Tyr2648Phe)
c.7874A>T (p.Tyr2625Phe)
c.7838A>T (p.Tyr2613Phe)
c.7790A>T (p.Tyr2597Phe)
c.7748A>T (p.Tyr2583Phe)
8g.133133482C>ACA372253012TGc.8010C>A (p.Tyr2670Ter)
c.3376C>A
c.2409C>A (p.Tyr803Ter)
c.222C>A (p.Tyr74Ter)
n.96C>A
c.4665C>A
c.7818C>A (p.Tyr2606Ter)
c.7947C>A (p.Tyr2649Ter)
c.7944C>A (p.Tyr2648Ter)
c.7875C>A (p.Tyr2625Ter)
c.7839C>A (p.Tyr2613Ter)
c.7791C>A (p.Tyr2597Ter)
c.7749C>A (p.Tyr2583Ter)
 ClinVar gnomAD v4
8g.133133482C=CA1821104889TGc.8010C= (p.Tyr2670=)
c.3376C=
c.2409C= (p.Tyr803=)
c.222C= (p.Tyr74=)
n.96C=
c.4665C=
c.7818C= (p.Tyr2606=)
c.7947C= (p.Tyr2649=)
c.7944C= (p.Tyr2648=)
c.7875C= (p.Tyr2625=)
c.7839C= (p.Tyr2613=)
c.7791C= (p.Tyr2597=)
c.7749C= (p.Tyr2583=)
8g.133133482C>GCA372253014TGc.8010C>G (p.Tyr2670Ter)
c.3376C>G
c.2409C>G (p.Tyr803Ter)
c.222C>G (p.Tyr74Ter)
n.96C>G
c.4665C>G
c.7818C>G (p.Tyr2606Ter)
c.7947C>G (p.Tyr2649Ter)
c.7944C>G (p.Tyr2648Ter)
c.7875C>G (p.Tyr2625Ter)
c.7839C>G (p.Tyr2613Ter)
c.7791C>G (p.Tyr2597Ter)
c.7749C>G (p.Tyr2583Ter)
8g.133133482C>TCA463016990TGc.8010C>T (p.Tyr2670=)
c.3376C>T
c.2409C>T (p.Tyr803=)
c.222C>T (p.Tyr74=)
n.96C>T
c.4665C>T
c.7818C>T (p.Tyr2606=)
c.7947C>T (p.Tyr2649=)
c.7944C>T (p.Tyr2648=)
c.7875C>T (p.Tyr2625=)
c.7839C>T (p.Tyr2613=)
c.7791C>T (p.Tyr2597=)
c.7749C>T (p.Tyr2583=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133484delCA2579255374TGc.8012del (p.Pro2671LeufsTer?)
c.3378del
c.2411del (p.Pro804LeufsTer?)
c.224del (p.Pro75LeufsTer?)
n.98del
c.4667del
c.7820del (p.Pro2607LeufsTer?)
c.7949del (p.Pro2650LeufsTer?)
c.7946del (p.Pro2649LeufsTer?)
c.7877del (p.Pro2626LeufsTer?)
c.7841del (p.Pro2614LeufsTer?)
c.7793del (p.Pro2598LeufsTer?)
c.7751del (p.Pro2584LeufsTer?)
8g.133133483C>ACA372253016TGc.8011C>A (p.Pro2671Thr)
c.3377C>A
c.2410C>A (p.Pro804Thr)
c.223C>A (p.Pro75Thr)
n.97C>A
c.4666C>A
c.7819C>A (p.Pro2607Thr)
c.7948C>A (p.Pro2650Thr)
c.7945C>A (p.Pro2649Thr)
c.7876C>A (p.Pro2626Thr)
c.7840C>A (p.Pro2614Thr)
c.7792C>A (p.Pro2598Thr)
c.7750C>A (p.Pro2584Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.133133483C=CA1821104890TGc.8011C= (p.Pro2671=)
c.3377C=
c.2410C= (p.Pro804=)
c.223C= (p.Pro75=)
n.97C=
c.4666C=
c.7819C= (p.Pro2607=)
c.7948C= (p.Pro2650=)
c.7945C= (p.Pro2649=)
c.7876C= (p.Pro2626=)
c.7840C= (p.Pro2614=)
c.7792C= (p.Pro2598=)
c.7750C= (p.Pro2584=)
8g.133133483C>GCA372253018TGc.8011C>G (p.Pro2671Ala)
c.3377C>G
c.2410C>G (p.Pro804Ala)
c.223C>G (p.Pro75Ala)
n.97C>G
c.4666C>G
c.7819C>G (p.Pro2607Ala)
c.7948C>G (p.Pro2650Ala)
c.7945C>G (p.Pro2649Ala)
c.7876C>G (p.Pro2626Ala)
c.7840C>G (p.Pro2614Ala)
c.7792C>G (p.Pro2598Ala)
c.7750C>G (p.Pro2584Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133483C>TCA4885876TGc.8011C>T (p.Pro2671Ser)
c.3377C>T
c.2410C>T (p.Pro804Ser)
c.223C>T (p.Pro75Ser)
n.97C>T
c.4666C>T
c.7819C>T (p.Pro2607Ser)
c.7948C>T (p.Pro2650Ser)
c.7945C>T (p.Pro2649Ser)
c.7876C>T (p.Pro2626Ser)
c.7840C>T (p.Pro2614Ser)
c.7792C>T (p.Pro2598Ser)
c.7750C>T (p.Pro2584Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133484C>ACA372253021TGc.8012C>A (p.Pro2671His)
c.3378C>A
c.2411C>A (p.Pro804His)
c.224C>A (p.Pro75His)
n.98C>A
c.4667C>A
c.7820C>A (p.Pro2607His)
c.7949C>A (p.Pro2650His)
c.7946C>A (p.Pro2649His)
c.7877C>A (p.Pro2626His)
c.7841C>A (p.Pro2614His)
c.7793C>A (p.Pro2598His)
c.7751C>A (p.Pro2584His)
8g.133133484C>GCA372253025TGc.8012C>G (p.Pro2671Arg)
c.3378C>G
c.2411C>G (p.Pro804Arg)
c.224C>G (p.Pro75Arg)
n.98C>G
c.4667C>G
c.7820C>G (p.Pro2607Arg)
c.7949C>G (p.Pro2650Arg)
c.7946C>G (p.Pro2649Arg)
c.7877C>G (p.Pro2626Arg)
c.7841C>G (p.Pro2614Arg)
c.7793C>G (p.Pro2598Arg)
c.7751C>G (p.Pro2584Arg)
8g.133133484C>TCA372253023TGc.8012C>T (p.Pro2671Leu)
c.3378C>T
c.2411C>T (p.Pro804Leu)
c.224C>T (p.Pro75Leu)
n.98C>T
c.4667C>T
c.7820C>T (p.Pro2607Leu)
c.7949C>T (p.Pro2650Leu)
c.7946C>T (p.Pro2649Leu)
c.7877C>T (p.Pro2626Leu)
c.7841C>T (p.Pro2614Leu)
c.7793C>T (p.Pro2598Leu)
c.7751C>T (p.Pro2584Leu)
 gnomAD v4
8g.133133485T>ACA463016993TGc.8013T>A (p.Pro2671=)
c.3379T>A
c.2412T>A (p.Pro804=)
c.225T>A (p.Pro75=)
n.99T>A
c.4668T>A
c.7821T>A (p.Pro2607=)
c.7950T>A (p.Pro2650=)
c.7947T>A (p.Pro2649=)
c.7878T>A (p.Pro2626=)
c.7842T>A (p.Pro2614=)
c.7794T>A (p.Pro2598=)
c.7752T>A (p.Pro2584=)
8g.133133485T>CCA463016994TGc.8013T>C (p.Pro2671=)
c.3379T>C
c.2412T>C (p.Pro804=)
c.225T>C (p.Pro75=)
n.99T>C
c.4668T>C
c.7821T>C (p.Pro2607=)
c.7950T>C (p.Pro2650=)
c.7947T>C (p.Pro2649=)
c.7878T>C (p.Pro2626=)
c.7842T>C (p.Pro2614=)
c.7794T>C (p.Pro2598=)
c.7752T>C (p.Pro2584=)
8g.133133485T>GCA463016995TGc.8013T>G (p.Pro2671=)
c.3379T>G
c.2412T>G (p.Pro804=)
c.225T>G (p.Pro75=)
n.99T>G
c.4668T>G
c.7821T>G (p.Pro2607=)
c.7950T>G (p.Pro2650=)
c.7947T>G (p.Pro2649=)
c.7878T>G (p.Pro2626=)
c.7842T>G (p.Pro2614=)
c.7794T>G (p.Pro2598=)
c.7752T>G (p.Pro2584=)
 gnomAD v4
8g.133133486T>ACA372253026TGc.8014T>A (p.Tyr2672Asn)
c.3380T>A
c.2413T>A (p.Tyr805Asn)
c.226T>A (p.Tyr76Asn)
n.100T>A
c.4669T>A
c.7822T>A (p.Tyr2608Asn)
c.7951T>A (p.Tyr2651Asn)
c.7948T>A (p.Tyr2650Asn)
c.7879T>A (p.Tyr2627Asn)
c.7843T>A (p.Tyr2615Asn)
c.7795T>A (p.Tyr2599Asn)
c.7753T>A (p.Tyr2585Asn)
8g.133133486T>CCA372253028TGc.8014T>C (p.Tyr2672His)
c.3380T>C
c.2413T>C (p.Tyr805His)
c.226T>C (p.Tyr76His)
n.100T>C
c.4669T>C
c.7822T>C (p.Tyr2608His)
c.7951T>C (p.Tyr2651His)
c.7948T>C (p.Tyr2650His)
c.7879T>C (p.Tyr2627His)
c.7843T>C (p.Tyr2615His)
c.7795T>C (p.Tyr2599His)
c.7753T>C (p.Tyr2585His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133486T>GCA372253030TGc.8014T>G (p.Tyr2672Asp)
c.3380T>G
c.2413T>G (p.Tyr805Asp)
c.226T>G (p.Tyr76Asp)
n.100T>G
c.4669T>G
c.7822T>G (p.Tyr2608Asp)
c.7951T>G (p.Tyr2651Asp)
c.7948T>G (p.Tyr2650Asp)
c.7879T>G (p.Tyr2627Asp)
c.7843T>G (p.Tyr2615Asp)
c.7795T>G (p.Tyr2599Asp)
c.7753T>G (p.Tyr2585Asp)
8g.133133486T=CA1821104891TGc.8014T= (p.Tyr2672=)
c.3380T=
c.2413T= (p.Tyr805=)
c.226T= (p.Tyr76=)
n.100T=
c.4669T=
c.7822T= (p.Tyr2608=)
c.7951T= (p.Tyr2651=)
c.7948T= (p.Tyr2650=)
c.7879T= (p.Tyr2627=)
c.7843T= (p.Tyr2615=)
c.7795T= (p.Tyr2599=)
c.7753T= (p.Tyr2585=)
8g.133133487A>CCA372253032TGc.8015A>C (p.Tyr2672Ser)
c.3381A>C
c.2414A>C (p.Tyr805Ser)
c.227A>C (p.Tyr76Ser)
n.101A>C
c.4670A>C
c.7823A>C (p.Tyr2608Ser)
c.7952A>C (p.Tyr2651Ser)
c.7949A>C (p.Tyr2650Ser)
c.7880A>C (p.Tyr2627Ser)
c.7844A>C (p.Tyr2615Ser)
c.7796A>C (p.Tyr2599Ser)
c.7754A>C (p.Tyr2585Ser)
8g.133133487A>GCA372253034TGc.8015A>G (p.Tyr2672Cys)
c.3381A>G
c.2414A>G (p.Tyr805Cys)
c.227A>G (p.Tyr76Cys)
n.101A>G
c.4670A>G
c.7823A>G (p.Tyr2608Cys)
c.7952A>G (p.Tyr2651Cys)
c.7949A>G (p.Tyr2650Cys)
c.7880A>G (p.Tyr2627Cys)
c.7844A>G (p.Tyr2615Cys)
c.7796A>G (p.Tyr2599Cys)
c.7754A>G (p.Tyr2585Cys)
8g.133133487A>TCA372253035TGc.8015A>T (p.Tyr2672Phe)
c.3381A>T
c.2414A>T (p.Tyr805Phe)
c.227A>T (p.Tyr76Phe)
n.101A>T
c.4670A>T
c.7823A>T (p.Tyr2608Phe)
c.7952A>T (p.Tyr2651Phe)
c.7949A>T (p.Tyr2650Phe)
c.7880A>T (p.Tyr2627Phe)
c.7844A>T (p.Tyr2615Phe)
c.7796A>T (p.Tyr2599Phe)
c.7754A>T (p.Tyr2585Phe)
8g.133133488T>ACA372253037TGc.8016T>A (p.Tyr2672Ter)
c.3382T>A
c.2415T>A (p.Tyr805Ter)
c.228T>A (p.Tyr76Ter)
n.102T>A
c.4671T>A
c.7824T>A (p.Tyr2608Ter)
c.7953T>A (p.Tyr2651Ter)
c.7950T>A (p.Tyr2650Ter)
c.7881T>A (p.Tyr2627Ter)
c.7845T>A (p.Tyr2615Ter)
c.7797T>A (p.Tyr2599Ter)
c.7755T>A (p.Tyr2585Ter)
8g.133133488T>CCA4885877TGc.8016T>C (p.Tyr2672=)
c.3382T>C
c.2415T>C (p.Tyr805=)
c.228T>C (p.Tyr76=)
n.102T>C
c.4671T>C
c.7824T>C (p.Tyr2608=)
c.7953T>C (p.Tyr2651=)
c.7950T>C (p.Tyr2650=)
c.7881T>C (p.Tyr2627=)
c.7845T>C (p.Tyr2615=)
c.7797T>C (p.Tyr2599=)
c.7755T>C (p.Tyr2585=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133488T>GCA372253040TGc.8016T>G (p.Tyr2672Ter)
c.3382T>G
c.2415T>G (p.Tyr805Ter)
c.228T>G (p.Tyr76Ter)
n.102T>G
c.4671T>G
c.7824T>G (p.Tyr2608Ter)
c.7953T>G (p.Tyr2651Ter)
c.7950T>G (p.Tyr2650Ter)
c.7881T>G (p.Tyr2627Ter)
c.7845T>G (p.Tyr2615Ter)
c.7797T>G (p.Tyr2599Ter)
c.7755T>G (p.Tyr2585Ter)
 gnomAD v4
8g.133133488T=CA1821104892TGc.8016T= (p.Tyr2672=)
c.3382T=
c.2415T= (p.Tyr805=)
c.228T= (p.Tyr76=)
n.102T=
c.4671T=
c.7824T= (p.Tyr2608=)
c.7953T= (p.Tyr2651=)
c.7950T= (p.Tyr2650=)
c.7881T= (p.Tyr2627=)
c.7845T= (p.Tyr2615=)
c.7797T= (p.Tyr2599=)
c.7755T= (p.Tyr2585=)
8g.133133489G>ACA372253046TGc.8017G>A (p.Glu2673Lys)
c.3383G>A
c.2416G>A (p.Glu806Lys)
c.229G>A (p.Glu77Lys)
n.103G>A
c.4672G>A
c.7825G>A (p.Glu2609Lys)
c.7954G>A (p.Glu2652Lys)
c.7951G>A (p.Glu2651Lys)
c.7882G>A (p.Glu2628Lys)
c.7846G>A (p.Glu2616Lys)
c.7798G>A (p.Glu2600Lys)
c.7756G>A (p.Glu2586Lys)
8g.133133489G>CCA372253044TGc.8017G>C (p.Glu2673Gln)
c.3383G>C
c.2416G>C (p.Glu806Gln)
c.229G>C (p.Glu77Gln)
n.103G>C
c.4672G>C
c.7825G>C (p.Glu2609Gln)
c.7954G>C (p.Glu2652Gln)
c.7951G>C (p.Glu2651Gln)
c.7882G>C (p.Glu2628Gln)
c.7846G>C (p.Glu2616Gln)
c.7798G>C (p.Glu2600Gln)
c.7756G>C (p.Glu2586Gln)
8g.133133489G>TCA372253042TGc.8017G>T (p.Glu2673Ter)
c.3383G>T
c.2416G>T (p.Glu806Ter)
c.229G>T (p.Glu77Ter)
n.103G>T
c.4672G>T
c.7825G>T (p.Glu2609Ter)
c.7954G>T (p.Glu2652Ter)
c.7951G>T (p.Glu2651Ter)
c.7882G>T (p.Glu2628Ter)
c.7846G>T (p.Glu2616Ter)
c.7798G>T (p.Glu2600Ter)
c.7756G>T (p.Glu2586Ter)
8g.133133490A>CCA372253048TGc.8018A>C (p.Glu2673Ala)
c.3384A>C
c.2417A>C (p.Glu806Ala)
c.230A>C (p.Glu77Ala)
n.104A>C
c.4673A>C
c.7826A>C (p.Glu2609Ala)
c.7955A>C (p.Glu2652Ala)
c.7952A>C (p.Glu2651Ala)
c.7883A>C (p.Glu2628Ala)
c.7847A>C (p.Glu2616Ala)
c.7799A>C (p.Glu2600Ala)
c.7757A>C (p.Glu2586Ala)
8g.133133490A>GCA372253049TGc.8018A>G (p.Glu2673Gly)
c.3384A>G
c.2417A>G (p.Glu806Gly)
c.230A>G (p.Glu77Gly)
n.104A>G
c.4673A>G
c.7826A>G (p.Glu2609Gly)
c.7955A>G (p.Glu2652Gly)
c.7952A>G (p.Glu2651Gly)
c.7883A>G (p.Glu2628Gly)
c.7847A>G (p.Glu2616Gly)
c.7799A>G (p.Glu2600Gly)
c.7757A>G (p.Glu2586Gly)
8g.133133490A>TCA372253052TGc.8018A>T (p.Glu2673Val)
c.3384A>T
c.2417A>T (p.Glu806Val)
c.230A>T (p.Glu77Val)
n.104A>T
c.4673A>T
c.7826A>T (p.Glu2609Val)
c.7955A>T (p.Glu2652Val)
c.7952A>T (p.Glu2651Val)
c.7883A>T (p.Glu2628Val)
c.7847A>T (p.Glu2616Val)
c.7799A>T (p.Glu2600Val)
c.7757A>T (p.Glu2586Val)
8g.133133491G>ACA463017002TGc.8019G>A (p.Glu2673=)
c.3385G>A
c.2418G>A (p.Glu806=)
c.231G>A (p.Glu77=)
n.105G>A
c.4674G>A
c.7827G>A (p.Glu2609=)
c.7956G>A (p.Glu2652=)
c.7953G>A (p.Glu2651=)
c.7884G>A (p.Glu2628=)
c.7848G>A (p.Glu2616=)
c.7800G>A (p.Glu2600=)
c.7758G>A (p.Glu2586=)
 gnomAD v4
8g.133133491G>CCA372253054TGc.8019G>C (p.Glu2673Asp)
c.3385G>C
c.2418G>C (p.Glu806Asp)
c.231G>C (p.Glu77Asp)
n.105G>C
c.4674G>C
c.7827G>C (p.Glu2609Asp)
c.7956G>C (p.Glu2652Asp)
c.7953G>C (p.Glu2651Asp)
c.7884G>C (p.Glu2628Asp)
c.7848G>C (p.Glu2616Asp)
c.7800G>C (p.Glu2600Asp)
c.7758G>C (p.Glu2586Asp)
8g.133133491G>TCA372253055TGc.8019G>T (p.Glu2673Asp)
c.3385G>T
c.2418G>T (p.Glu806Asp)
c.231G>T (p.Glu77Asp)
n.105G>T
c.4674G>T
c.7827G>T (p.Glu2609Asp)
c.7956G>T (p.Glu2652Asp)
c.7953G>T (p.Glu2651Asp)
c.7884G>T (p.Glu2628Asp)
c.7848G>T (p.Glu2616Asp)
c.7800G>T (p.Glu2600Asp)
c.7758G>T (p.Glu2586Asp)
 gnomAD v4
8g.133133492T>ACA372253058TGc.8020T>A (p.Phe2674Ile)
c.3386T>A
c.2419T>A (p.Phe807Ile)
c.232T>A (p.Phe78Ile)
n.106T>A
c.4675T>A
c.7828T>A (p.Phe2610Ile)
c.7957T>A (p.Phe2653Ile)
c.7954T>A (p.Phe2652Ile)
c.7885T>A (p.Phe2629Ile)
c.7849T>A (p.Phe2617Ile)
c.7801T>A (p.Phe2601Ile)
c.7759T>A (p.Phe2587Ile)
8g.133133492T>CCA372253059TGc.8020T>C (p.Phe2674Leu)
c.3386T>C
c.2419T>C (p.Phe807Leu)
c.232T>C (p.Phe78Leu)
n.106T>C
c.4675T>C
c.7828T>C (p.Phe2610Leu)
c.7957T>C (p.Phe2653Leu)
c.7954T>C (p.Phe2652Leu)
c.7885T>C (p.Phe2629Leu)
c.7849T>C (p.Phe2617Leu)
c.7801T>C (p.Phe2601Leu)
c.7759T>C (p.Phe2587Leu)
 COSMIC
8g.133133492T>GCA372253061TGc.8020T>G (p.Phe2674Val)
c.3386T>G
c.2419T>G (p.Phe807Val)
c.232T>G (p.Phe78Val)
n.106T>G
c.4675T>G
c.7828T>G (p.Phe2610Val)
c.7957T>G (p.Phe2653Val)
c.7954T>G (p.Phe2652Val)
c.7885T>G (p.Phe2629Val)
c.7849T>G (p.Phe2617Val)
c.7801T>G (p.Phe2601Val)
c.7759T>G (p.Phe2587Val)
8g.133133493T>ACA372253063TGc.8021T>A (p.Phe2674Tyr)
c.3387T>A
c.2420T>A (p.Phe807Tyr)
c.233T>A (p.Phe78Tyr)
n.107T>A
c.4676T>A
c.7829T>A (p.Phe2610Tyr)
c.7958T>A (p.Phe2653Tyr)
c.7955T>A (p.Phe2652Tyr)
c.7886T>A (p.Phe2629Tyr)
c.7850T>A (p.Phe2617Tyr)
c.7802T>A (p.Phe2601Tyr)
c.7760T>A (p.Phe2587Tyr)
8g.133133493T>CCA372253065TGc.8021T>C (p.Phe2674Ser)
c.3387T>C
c.2420T>C (p.Phe807Ser)
c.233T>C (p.Phe78Ser)
n.107T>C
c.4676T>C
c.7829T>C (p.Phe2610Ser)
c.7958T>C (p.Phe2653Ser)
c.7955T>C (p.Phe2652Ser)
c.7886T>C (p.Phe2629Ser)
c.7850T>C (p.Phe2617Ser)
c.7802T>C (p.Phe2601Ser)
c.7760T>C (p.Phe2587Ser)
8g.133133493T>GCA372253067TGc.8021T>G (p.Phe2674Cys)
c.3387T>G
c.2420T>G (p.Phe807Cys)
c.233T>G (p.Phe78Cys)
n.107T>G
c.4676T>G
c.7829T>G (p.Phe2610Cys)
c.7958T>G (p.Phe2653Cys)
c.7955T>G (p.Phe2652Cys)
c.7886T>G (p.Phe2629Cys)
c.7850T>G (p.Phe2617Cys)
c.7802T>G (p.Phe2601Cys)
c.7760T>G (p.Phe2587Cys)
8g.133133494C>ACA372253068TGc.8022C>A (p.Phe2674Leu)
c.3388C>A
c.2421C>A (p.Phe807Leu)
c.234C>A (p.Phe78Leu)
n.108C>A
c.4677C>A
c.7830C>A (p.Phe2610Leu)
c.7959C>A (p.Phe2653Leu)
c.7956C>A (p.Phe2652Leu)
c.7887C>A (p.Phe2629Leu)
c.7851C>A (p.Phe2617Leu)
c.7803C>A (p.Phe2601Leu)
c.7761C>A (p.Phe2587Leu)
8g.133133494C>GCA372253069TGc.8022C>G (p.Phe2674Leu)
c.3388C>G
c.2421C>G (p.Phe807Leu)
c.234C>G (p.Phe78Leu)
n.108C>G
c.4677C>G
c.7830C>G (p.Phe2610Leu)
c.7959C>G (p.Phe2653Leu)
c.7956C>G (p.Phe2652Leu)
c.7887C>G (p.Phe2629Leu)
c.7851C>G (p.Phe2617Leu)
c.7803C>G (p.Phe2601Leu)
c.7761C>G (p.Phe2587Leu)
8g.133133494C>TCA463017009TGc.8022C>T (p.Phe2674=)
c.3388C>T
c.2421C>T (p.Phe807=)
c.234C>T (p.Phe78=)
n.108C>T
c.4677C>T
c.7830C>T (p.Phe2610=)
c.7959C>T (p.Phe2653=)
c.7956C>T (p.Phe2652=)
c.7887C>T (p.Phe2629=)
c.7851C>T (p.Phe2617=)
c.7803C>T (p.Phe2601=)
c.7761C>T (p.Phe2587=)
8g.133133495T>ACA372253073TGc.8023T>A (p.Ser2675Thr)
c.3389T>A
c.2422T>A (p.Ser808Thr)
c.235T>A (p.Ser79Thr)
n.109T>A
c.4678T>A
c.7831T>A (p.Ser2611Thr)
c.7960T>A (p.Ser2654Thr)
c.7957T>A (p.Ser2653Thr)
c.7888T>A (p.Ser2630Thr)
c.7852T>A (p.Ser2618Thr)
c.7804T>A (p.Ser2602Thr)
c.7762T>A (p.Ser2588Thr)
8g.133133495T>CCA372253071TGc.8023T>C (p.Ser2675Pro)
c.3389T>C
c.2422T>C (p.Ser808Pro)
c.235T>C (p.Ser79Pro)
n.109T>C
c.4678T>C
c.7831T>C (p.Ser2611Pro)
c.7960T>C (p.Ser2654Pro)
c.7957T>C (p.Ser2653Pro)
c.7888T>C (p.Ser2630Pro)
c.7852T>C (p.Ser2618Pro)
c.7804T>C (p.Ser2602Pro)
c.7762T>C (p.Ser2588Pro)
8g.133133495T>GCA372253072TGc.8023T>G (p.Ser2675Ala)
c.3389T>G
c.2422T>G (p.Ser808Ala)
c.235T>G (p.Ser79Ala)
n.109T>G
c.4678T>G
c.7831T>G (p.Ser2611Ala)
c.7960T>G (p.Ser2654Ala)
c.7957T>G (p.Ser2653Ala)
c.7888T>G (p.Ser2630Ala)
c.7852T>G (p.Ser2618Ala)
c.7804T>G (p.Ser2602Ala)
c.7762T>G (p.Ser2588Ala)
8g.133133496C>ACA372253075TGc.8024C>A (p.Ser2675Ter)
c.3390C>A
c.2423C>A (p.Ser808Ter)
c.236C>A (p.Ser79Ter)
n.110C>A
c.4679C>A
c.7832C>A (p.Ser2611Ter)
c.7961C>A (p.Ser2654Ter)
c.7958C>A (p.Ser2653Ter)
c.7889C>A (p.Ser2630Ter)
c.7853C>A (p.Ser2618Ter)
c.7805C>A (p.Ser2602Ter)
c.7763C>A (p.Ser2588Ter)
8g.133133496C>GCA372253077TGc.8024C>G (p.Ser2675Ter)
c.3390C>G
c.2423C>G (p.Ser808Ter)
c.236C>G (p.Ser79Ter)
n.110C>G
c.4679C>G
c.7832C>G (p.Ser2611Ter)
c.7961C>G (p.Ser2654Ter)
c.7958C>G (p.Ser2653Ter)
c.7889C>G (p.Ser2630Ter)
c.7853C>G (p.Ser2618Ter)
c.7805C>G (p.Ser2602Ter)
c.7763C>G (p.Ser2588Ter)
8g.133133496C>TCA372253079TGc.8024C>T (p.Ser2675Leu)
c.3390C>T
c.2423C>T (p.Ser808Leu)
c.236C>T (p.Ser79Leu)
n.110C>T
c.4679C>T
c.7832C>T (p.Ser2611Leu)
c.7961C>T (p.Ser2654Leu)
c.7958C>T (p.Ser2653Leu)
c.7889C>T (p.Ser2630Leu)
c.7853C>T (p.Ser2618Leu)
c.7805C>T (p.Ser2602Leu)
c.7763C>T (p.Ser2588Leu)
8g.133133497A>CCA463017012TGc.8025A>C (p.Ser2675=)
c.3391A>C
c.2424A>C (p.Ser808=)
c.237A>C (p.Ser79=)
n.111A>C
c.4680A>C
c.7833A>C (p.Ser2611=)
c.7962A>C (p.Ser2654=)
c.7959A>C (p.Ser2653=)
c.7890A>C (p.Ser2630=)
c.7854A>C (p.Ser2618=)
c.7806A>C (p.Ser2602=)
c.7764A>C (p.Ser2588=)
 gnomAD v4
8g.133133497A>GCA463017013TGc.8025A>G (p.Ser2675=)
c.3391A>G
c.2424A>G (p.Ser808=)
c.237A>G (p.Ser79=)
n.111A>G
c.4680A>G
c.7833A>G (p.Ser2611=)
c.7962A>G (p.Ser2654=)
c.7959A>G (p.Ser2653=)
c.7890A>G (p.Ser2630=)
c.7854A>G (p.Ser2618=)
c.7806A>G (p.Ser2602=)
c.7764A>G (p.Ser2588=)
8g.133133497A>TCA463017014TGc.8025A>T (p.Ser2675=)
c.3391A>T
c.2424A>T (p.Ser808=)
c.237A>T (p.Ser79=)
n.111A>T
c.4680A>T
c.7833A>T (p.Ser2611=)
c.7962A>T (p.Ser2654=)
c.7959A>T (p.Ser2653=)
c.7890A>T (p.Ser2630=)
c.7854A>T (p.Ser2618=)
c.7806A>T (p.Ser2602=)
c.7764A>T (p.Ser2588=)
8g.133133498C>ACA463017016TGc.8026C>A (p.Arg2676=)
c.3392C>A
c.2425C>A (p.Arg809=)
c.238C>A (p.Arg80=)
n.112C>A
c.4681C>A
c.7834C>A (p.Arg2612=)
c.7963C>A (p.Arg2655=)
c.7960C>A (p.Arg2654=)
c.7891C>A (p.Arg2631=)
c.7855C>A (p.Arg2619=)
c.7807C>A (p.Arg2603=)
c.7765C>A (p.Arg2589=)
8g.133133498C=CA1821104893TGc.8026C= (p.Arg2676=)
c.3392C=
c.2425C= (p.Arg809=)
c.238C= (p.Arg80=)
n.112C=
c.4681C=
c.7834C= (p.Arg2612=)
c.7963C= (p.Arg2655=)
c.7960C= (p.Arg2654=)
c.7891C= (p.Arg2631=)
c.7855C= (p.Arg2619=)
c.7807C= (p.Arg2603=)
c.7765C= (p.Arg2589=)
8g.133133498C>GCA372253081TGc.8026C>G (p.Arg2676Gly)
c.3392C>G
c.2425C>G (p.Arg809Gly)
c.238C>G (p.Arg80Gly)
n.112C>G
c.4681C>G
c.7834C>G (p.Arg2612Gly)
c.7963C>G (p.Arg2655Gly)
c.7960C>G (p.Arg2654Gly)
c.7891C>G (p.Arg2631Gly)
c.7855C>G (p.Arg2619Gly)
c.7807C>G (p.Arg2603Gly)
c.7765C>G (p.Arg2589Gly)
 gnomAD v4
8g.133133498C>TCA4885878TGc.8026C>T (p.Arg2676Trp)
c.3392C>T
c.2425C>T (p.Arg809Trp)
c.238C>T (p.Arg80Trp)
n.112C>T
c.4681C>T
c.7834C>T (p.Arg2612Trp)
c.7963C>T (p.Arg2655Trp)
c.7960C>T (p.Arg2654Trp)
c.7891C>T (p.Arg2631Trp)
c.7855C>T (p.Arg2619Trp)
c.7807C>T (p.Arg2603Trp)
c.7765C>T (p.Arg2589Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133499G>ACA4885879TGc.8027G>A (p.Arg2676Gln)
c.3393G>A
c.2426G>A (p.Arg809Gln)
c.239G>A (p.Arg80Gln)
n.113G>A
c.4682G>A
c.7835G>A (p.Arg2612Gln)
c.7964G>A (p.Arg2655Gln)
c.7961G>A (p.Arg2654Gln)
c.7892G>A (p.Arg2631Gln)
c.7856G>A (p.Arg2619Gln)
c.7808G>A (p.Arg2603Gln)
c.7766G>A (p.Arg2589Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133499G>CCA372253084TGc.8027G>C (p.Arg2676Pro)
c.3393G>C
c.2426G>C (p.Arg809Pro)
c.239G>C (p.Arg80Pro)
n.113G>C
c.4682G>C
c.7835G>C (p.Arg2612Pro)
c.7964G>C (p.Arg2655Pro)
c.7961G>C (p.Arg2654Pro)
c.7892G>C (p.Arg2631Pro)
c.7856G>C (p.Arg2619Pro)
c.7808G>C (p.Arg2603Pro)
c.7766G>C (p.Arg2589Pro)
8g.133133499G=CA1821104894TGc.8027G= (p.Arg2676=)
c.3393G=
c.2426G= (p.Arg809=)
c.239G= (p.Arg80=)
n.113G=
c.4682G=
c.7835G= (p.Arg2612=)
c.7964G= (p.Arg2655=)
c.7961G= (p.Arg2654=)
c.7892G= (p.Arg2631=)
c.7856G= (p.Arg2619=)
c.7808G= (p.Arg2603=)
c.7766G= (p.Arg2589=)
8g.133133499G>TCA372253086TGc.8027G>T (p.Arg2676Leu)
c.3393G>T
c.2426G>T (p.Arg809Leu)
c.239G>T (p.Arg80Leu)
n.113G>T
c.4682G>T
c.7835G>T (p.Arg2612Leu)
c.7964G>T (p.Arg2655Leu)
c.7961G>T (p.Arg2654Leu)
c.7892G>T (p.Arg2631Leu)
c.7856G>T (p.Arg2619Leu)
c.7808G>T (p.Arg2603Leu)
c.7766G>T (p.Arg2589Leu)
8g.133133500G>ACA463017017TGc.8028G>A (p.Arg2676=)
c.3394G>A
c.2427G>A (p.Arg809=)
c.240G>A (p.Arg80=)
n.114G>A
c.4683G>A
c.7836G>A (p.Arg2612=)
c.7965G>A (p.Arg2655=)
c.7962G>A (p.Arg2654=)
c.7893G>A (p.Arg2631=)
c.7857G>A (p.Arg2619=)
c.7809G>A (p.Arg2603=)
c.7767G>A (p.Arg2589=)
8g.133133500G>CCA463017019TGc.8028G>C (p.Arg2676=)
c.3394G>C
c.2427G>C (p.Arg809=)
c.240G>C (p.Arg80=)
n.114G>C
c.4683G>C
c.7836G>C (p.Arg2612=)
c.7965G>C (p.Arg2655=)
c.7962G>C (p.Arg2654=)
c.7893G>C (p.Arg2631=)
c.7857G>C (p.Arg2619=)
c.7809G>C (p.Arg2603=)
c.7767G>C (p.Arg2589=)
8g.133133500G>TCA463017021TGc.8028G>T (p.Arg2676=)
c.3394G>T
c.2427G>T (p.Arg809=)
c.240G>T (p.Arg80=)
n.114G>T
c.4683G>T
c.7836G>T (p.Arg2612=)
c.7965G>T (p.Arg2655=)
c.7962G>T (p.Arg2654=)
c.7893G>T (p.Arg2631=)
c.7857G>T (p.Arg2619=)
c.7809G>T (p.Arg2603=)
c.7767G>T (p.Arg2589=)
8g.133133501A=CA1821104895TGc.8029A= (p.Lys2677=)
c.3395A=
c.2428A= (p.Lys810=)
c.241A= (p.Lys81=)
n.115A=
c.4684A=
c.7837A= (p.Lys2613=)
c.7966A= (p.Lys2656=)
c.7963A= (p.Lys2655=)
c.7894A= (p.Lys2632=)
c.7858A= (p.Lys2620=)
c.7810A= (p.Lys2604=)
c.7768A= (p.Lys2590=)
8g.133133501A>CCA4885880TGc.8029A>C (p.Lys2677Gln)
c.3395A>C
c.2428A>C (p.Lys810Gln)
c.241A>C (p.Lys81Gln)
n.115A>C
c.4684A>C
c.7837A>C (p.Lys2613Gln)
c.7966A>C (p.Lys2656Gln)
c.7963A>C (p.Lys2655Gln)
c.7894A>C (p.Lys2632Gln)
c.7858A>C (p.Lys2620Gln)
c.7810A>C (p.Lys2604Gln)
c.7768A>C (p.Lys2590Gln)
 dbSNP ExAC gnomAD v4
8g.133133501A>GCA372253088TGc.8029A>G (p.Lys2677Glu)
c.3395A>G
c.2428A>G (p.Lys810Glu)
c.241A>G (p.Lys81Glu)
n.115A>G
c.4684A>G
c.7837A>G (p.Lys2613Glu)
c.7966A>G (p.Lys2656Glu)
c.7963A>G (p.Lys2655Glu)
c.7894A>G (p.Lys2632Glu)
c.7858A>G (p.Lys2620Glu)
c.7810A>G (p.Lys2604Glu)
c.7768A>G (p.Lys2590Glu)
8g.133133501A>TCA372253090TGc.8029A>T (p.Lys2677Ter)
c.3395A>T
c.2428A>T (p.Lys810Ter)
c.241A>T (p.Lys81Ter)
n.115A>T
c.4684A>T
c.7837A>T (p.Lys2613Ter)
c.7966A>T (p.Lys2656Ter)
c.7963A>T (p.Lys2655Ter)
c.7894A>T (p.Lys2632Ter)
c.7858A>T (p.Lys2620Ter)
c.7810A>T (p.Lys2604Ter)
c.7768A>T (p.Lys2590Ter)
8g.133133502A>CCA372253096TGc.8030A>C (p.Lys2677Thr)
c.3396A>C
c.2429A>C (p.Lys810Thr)
c.242A>C (p.Lys81Thr)
n.116A>C
c.4685A>C
c.7838A>C (p.Lys2613Thr)
c.7967A>C (p.Lys2656Thr)
c.7964A>C (p.Lys2655Thr)
c.7895A>C (p.Lys2632Thr)
c.7859A>C (p.Lys2620Thr)
c.7811A>C (p.Lys2604Thr)
c.7769A>C (p.Lys2590Thr)
8g.133133502A>GCA372253094TGc.8030A>G (p.Lys2677Arg)
c.3396A>G
c.2429A>G (p.Lys810Arg)
c.242A>G (p.Lys81Arg)
n.116A>G
c.4685A>G
c.7838A>G (p.Lys2613Arg)
c.7967A>G (p.Lys2656Arg)
c.7964A>G (p.Lys2655Arg)
c.7895A>G (p.Lys2632Arg)
c.7859A>G (p.Lys2620Arg)
c.7811A>G (p.Lys2604Arg)
c.7769A>G (p.Lys2590Arg)
8g.133133502A>TCA372253093TGc.8030A>T (p.Lys2677Ile)
c.3396A>T
c.2429A>T (p.Lys810Ile)
c.242A>T (p.Lys81Ile)
n.116A>T
c.4685A>T
c.7838A>T (p.Lys2613Ile)
c.7967A>T (p.Lys2656Ile)
c.7964A>T (p.Lys2655Ile)
c.7895A>T (p.Lys2632Ile)
c.7859A>T (p.Lys2620Ile)
c.7811A>T (p.Lys2604Ile)
c.7769A>T (p.Lys2590Ile)
8g.133133503A=CA1821104896TGc.8031A= (p.Lys2677=)
c.3397A=
c.2430A= (p.Lys810=)
c.243A= (p.Lys81=)
n.117A=
c.4686A=
c.7839A= (p.Lys2613=)
c.7968A= (p.Lys2656=)
c.7965A= (p.Lys2655=)
c.7896A= (p.Lys2632=)
c.7860A= (p.Lys2620=)
c.7812A= (p.Lys2604=)
c.7770A= (p.Lys2590=)
8g.133133503A>CCA372253097TGc.8031A>C (p.Lys2677Asn)
c.3397A>C
c.2430A>C (p.Lys810Asn)
c.243A>C (p.Lys81Asn)
n.117A>C
c.4686A>C
c.7839A>C (p.Lys2613Asn)
c.7968A>C (p.Lys2656Asn)
c.7965A>C (p.Lys2655Asn)
c.7896A>C (p.Lys2632Asn)
c.7860A>C (p.Lys2620Asn)
c.7812A>C (p.Lys2604Asn)
c.7770A>C (p.Lys2590Asn)
8g.133133503A>GCA463017028TGc.8031A>G (p.Lys2677=)
c.3397A>G
c.2430A>G (p.Lys810=)
c.243A>G (p.Lys81=)
n.117A>G
c.4686A>G
c.7839A>G (p.Lys2613=)
c.7968A>G (p.Lys2656=)
c.7965A>G (p.Lys2655=)
c.7896A>G (p.Lys2632=)
c.7860A>G (p.Lys2620=)
c.7812A>G (p.Lys2604=)
c.7770A>G (p.Lys2590=)
 dbSNP gnomAD v2 gnomAD v4
8g.133133503A>TCA372253098TGc.8031A>T (p.Lys2677Asn)
c.3397A>T
c.2430A>T (p.Lys810Asn)
c.243A>T (p.Lys81Asn)
n.117A>T
c.4686A>T
c.7839A>T (p.Lys2613Asn)
c.7968A>T (p.Lys2656Asn)
c.7965A>T (p.Lys2655Asn)
c.7896A>T (p.Lys2632Asn)
c.7860A>T (p.Lys2620Asn)
c.7812A>T (p.Lys2604Asn)
c.7770A>T (p.Lys2590Asn)
8g.133133504G>ACA372253100TGc.8032G>A (p.Val2678Ile)
c.3398G>A
c.2431G>A (p.Val811Ile)
c.244G>A (p.Val82Ile)
n.118G>A
c.4687G>A
c.7840G>A (p.Val2614Ile)
c.7969G>A (p.Val2657Ile)
c.7966G>A (p.Val2656Ile)
c.7897G>A (p.Val2633Ile)
c.7861G>A (p.Val2621Ile)
c.7813G>A (p.Val2605Ile)
c.7771G>A (p.Val2591Ile)
 gnomAD v4
8g.133133504G>CCA372253104TGc.8032G>C (p.Val2678Leu)
c.3398G>C
c.2431G>C (p.Val811Leu)
c.244G>C (p.Val82Leu)
n.118G>C
c.4687G>C
c.7840G>C (p.Val2614Leu)
c.7969G>C (p.Val2657Leu)
c.7966G>C (p.Val2656Leu)
c.7897G>C (p.Val2633Leu)
c.7861G>C (p.Val2621Leu)
c.7813G>C (p.Val2605Leu)
c.7771G>C (p.Val2591Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.133133504G=CA1821104897TGc.8032G= (p.Val2678=)
c.3398G=
c.2431G= (p.Val811=)
c.244G= (p.Val82=)
n.118G=
c.4687G=
c.7840G= (p.Val2614=)
c.7969G= (p.Val2657=)
c.7966G= (p.Val2656=)
c.7897G= (p.Val2633=)
c.7861G= (p.Val2621=)
c.7813G= (p.Val2605=)
c.7771G= (p.Val2591=)
8g.133133504G>TCA372253102TGc.8032G>T (p.Val2678Leu)
c.3398G>T
c.2431G>T (p.Val811Leu)
c.244G>T (p.Val82Leu)
n.118G>T
c.4687G>T
c.7840G>T (p.Val2614Leu)
c.7969G>T (p.Val2657Leu)
c.7966G>T (p.Val2656Leu)
c.7897G>T (p.Val2633Leu)
c.7861G>T (p.Val2621Leu)
c.7813G>T (p.Val2605Leu)
c.7771G>T (p.Val2591Leu)
8g.133133505T>ACA372253105TGc.8033T>A (p.Val2678Glu)
c.3399T>A
c.2432T>A (p.Val811Glu)
c.245T>A (p.Val82Glu)
n.119T>A
c.4688T>A
c.7841T>A (p.Val2614Glu)
c.7970T>A (p.Val2657Glu)
c.7967T>A (p.Val2656Glu)
c.7898T>A (p.Val2633Glu)
c.7862T>A (p.Val2621Glu)
c.7814T>A (p.Val2605Glu)
c.7772T>A (p.Val2591Glu)
8g.133133505T>CCA372253109TGc.8033T>C (p.Val2678Ala)
c.3399T>C
c.2432T>C (p.Val811Ala)
c.245T>C (p.Val82Ala)
n.119T>C
c.4688T>C
c.7841T>C (p.Val2614Ala)
c.7970T>C (p.Val2657Ala)
c.7967T>C (p.Val2656Ala)
c.7898T>C (p.Val2633Ala)
c.7862T>C (p.Val2621Ala)
c.7814T>C (p.Val2605Ala)
c.7772T>C (p.Val2591Ala)
 dbSNP gnomAD v4
8g.133133505T>GCA372253107TGc.8033T>G (p.Val2678Gly)
c.3399T>G
c.2432T>G (p.Val811Gly)
c.245T>G (p.Val82Gly)
n.119T>G
c.4688T>G
c.7841T>G (p.Val2614Gly)
c.7970T>G (p.Val2657Gly)
c.7967T>G (p.Val2656Gly)
c.7898T>G (p.Val2633Gly)
c.7862T>G (p.Val2621Gly)
c.7814T>G (p.Val2605Gly)
c.7772T>G (p.Val2591Gly)
8g.133133505T=CA1821104898TGc.8033T= (p.Val2678=)
c.3399T=
c.2432T= (p.Val811=)
c.245T= (p.Val82=)
n.119T=
c.4688T=
c.7841T= (p.Val2614=)
c.7970T= (p.Val2657=)
c.7967T= (p.Val2656=)
c.7898T= (p.Val2633=)
c.7862T= (p.Val2621=)
c.7814T= (p.Val2605=)
c.7772T= (p.Val2591=)
8g.133133506A>CCA463017030TGc.8034A>C (p.Val2678=)
c.3400A>C
c.2433A>C (p.Val811=)
c.246A>C (p.Val82=)
n.120A>C
c.4689A>C
c.7842A>C (p.Val2614=)
c.7971A>C (p.Val2657=)
c.7968A>C (p.Val2656=)
c.7899A>C (p.Val2633=)
c.7863A>C (p.Val2621=)
c.7815A>C (p.Val2605=)
c.7773A>C (p.Val2591=)
8g.133133506A>GCA463017031TGc.8034A>G (p.Val2678=)
c.3400A>G
c.2433A>G (p.Val811=)
c.246A>G (p.Val82=)
n.120A>G
c.4689A>G
c.7842A>G (p.Val2614=)
c.7971A>G (p.Val2657=)
c.7968A>G (p.Val2656=)
c.7899A>G (p.Val2633=)
c.7863A>G (p.Val2621=)
c.7815A>G (p.Val2605=)
c.7773A>G (p.Val2591=)
8g.133133506A>TCA463017032TGc.8034A>T (p.Val2678=)
c.3400A>T
c.2433A>T (p.Val811=)
c.246A>T (p.Val82=)
n.120A>T
c.4689A>T
c.7842A>T (p.Val2614=)
c.7971A>T (p.Val2657=)
c.7968A>T (p.Val2656=)
c.7899A>T (p.Val2633=)
c.7863A>T (p.Val2621=)
c.7815A>T (p.Val2605=)
c.7773A>T (p.Val2591=)
8g.133133507C>ACA372253112TGc.8035C>A (p.Pro2679Thr)
c.3401C>A
c.2434C>A (p.Pro812Thr)
c.247C>A (p.Pro83Thr)
n.121C>A
c.4690C>A
c.7843C>A (p.Pro2615Thr)
c.7972C>A (p.Pro2658Thr)
c.7969C>A (p.Pro2657Thr)
c.7900C>A (p.Pro2634Thr)
c.7864C>A (p.Pro2622Thr)
c.7816C>A (p.Pro2606Thr)
c.7774C>A (p.Pro2592Thr)
8g.133133507C>GCA372253113TGc.8035C>G (p.Pro2679Ala)
c.3401C>G
c.2434C>G (p.Pro812Ala)
c.247C>G (p.Pro83Ala)
n.121C>G
c.4690C>G
c.7843C>G (p.Pro2615Ala)
c.7972C>G (p.Pro2658Ala)
c.7969C>G (p.Pro2657Ala)
c.7900C>G (p.Pro2634Ala)
c.7864C>G (p.Pro2622Ala)
c.7816C>G (p.Pro2606Ala)
c.7774C>G (p.Pro2592Ala)
8g.133133507C>TCA372253115TGc.8035C>T (p.Pro2679Ser)
c.3401C>T
c.2434C>T (p.Pro812Ser)
c.247C>T (p.Pro83Ser)
n.121C>T
c.4690C>T
c.7843C>T (p.Pro2615Ser)
c.7972C>T (p.Pro2658Ser)
c.7969C>T (p.Pro2657Ser)
c.7900C>T (p.Pro2634Ser)
c.7864C>T (p.Pro2622Ser)
c.7816C>T (p.Pro2606Ser)
c.7774C>T (p.Pro2592Ser)
8g.133133508C>ACA372253117TGc.8036C>A (p.Pro2679His)
c.3402C>A
c.2435C>A (p.Pro812His)
c.248C>A (p.Pro83His)
n.122C>A
c.4691C>A
c.7844C>A (p.Pro2615His)
c.7973C>A (p.Pro2658His)
c.7970C>A (p.Pro2657His)
c.7901C>A (p.Pro2634His)
c.7865C>A (p.Pro2622His)
c.7817C>A (p.Pro2606His)
c.7775C>A (p.Pro2592His)
8g.133133508C>GCA372253119TGc.8036C>G (p.Pro2679Arg)
c.3402C>G
c.2435C>G (p.Pro812Arg)
c.248C>G (p.Pro83Arg)
n.122C>G
c.4691C>G
c.7844C>G (p.Pro2615Arg)
c.7973C>G (p.Pro2658Arg)
c.7970C>G (p.Pro2657Arg)
c.7901C>G (p.Pro2634Arg)
c.7865C>G (p.Pro2622Arg)
c.7817C>G (p.Pro2606Arg)
c.7775C>G (p.Pro2592Arg)
8g.133133508C>TCA372253121TGc.8036C>T (p.Pro2679Leu)
c.3402C>T
c.2435C>T (p.Pro812Leu)
c.248C>T (p.Pro83Leu)
n.122C>T
c.4691C>T
c.7844C>T (p.Pro2615Leu)
c.7973C>T (p.Pro2658Leu)
c.7970C>T (p.Pro2657Leu)
c.7901C>T (p.Pro2634Leu)
c.7865C>T (p.Pro2622Leu)
c.7817C>T (p.Pro2606Leu)
c.7775C>T (p.Pro2592Leu)
8g.133133509C>ACA463017040TGc.8037C>A (p.Pro2679=)
c.3403C>A
c.2436C>A (p.Pro812=)
c.249C>A (p.Pro83=)
n.123C>A
c.4692C>A
c.7845C>A (p.Pro2615=)
c.7974C>A (p.Pro2658=)
c.7971C>A (p.Pro2657=)
c.7902C>A (p.Pro2634=)
c.7866C>A (p.Pro2622=)
c.7818C>A (p.Pro2606=)
c.7776C>A (p.Pro2592=)
8g.133133509C=CA1821104899TGc.8037C= (p.Pro2679=)
c.3403C=
c.2436C= (p.Pro812=)
c.249C= (p.Pro83=)
n.123C=
c.4692C=
c.7845C= (p.Pro2615=)
c.7974C= (p.Pro2658=)
c.7971C= (p.Pro2657=)
c.7902C= (p.Pro2634=)
c.7866C= (p.Pro2622=)
c.7818C= (p.Pro2606=)
c.7776C= (p.Pro2592=)
8g.133133509C>GCA463017041TGc.8037C>G (p.Pro2679=)
c.3403C>G
c.2436C>G (p.Pro812=)
c.249C>G (p.Pro83=)
n.123C>G
c.4692C>G
c.7845C>G (p.Pro2615=)
c.7974C>G (p.Pro2658=)
c.7971C>G (p.Pro2657=)
c.7902C>G (p.Pro2634=)
c.7866C>G (p.Pro2622=)
c.7818C>G (p.Pro2606=)
c.7776C>G (p.Pro2592=)
 gnomAD v4
8g.133133509C>TCA463017042TGc.8037C>T (p.Pro2679=)
c.3403C>T
c.2436C>T (p.Pro812=)
c.249C>T (p.Pro83=)
n.123C>T
c.4692C>T
c.7845C>T (p.Pro2615=)
c.7974C>T (p.Pro2658=)
c.7971C>T (p.Pro2657=)
c.7902C>T (p.Pro2634=)
c.7866C>T (p.Pro2622=)
c.7818C>T (p.Pro2606=)
c.7776C>T (p.Pro2592=)
 ClinVar dbSNP
8g.133133510A=CA1821104900TGc.8038A= (p.Thr2680=)
c.3404A=
c.2437A= (p.Thr813=)
c.250A= (p.Thr84=)
n.124A=
c.4693A=
c.7846A= (p.Thr2616=)
c.7975A= (p.Thr2659=)
c.7972A= (p.Thr2658=)
c.7903A= (p.Thr2635=)
c.7867A= (p.Thr2623=)
c.7819A= (p.Thr2607=)
c.7777A= (p.Thr2593=)
8g.133133510A>CCA372253123TGc.8038A>C (p.Thr2680Pro)
c.3404A>C
c.2437A>C (p.Thr813Pro)
c.250A>C (p.Thr84Pro)
n.124A>C
c.4693A>C
c.7846A>C (p.Thr2616Pro)
c.7975A>C (p.Thr2659Pro)
c.7972A>C (p.Thr2658Pro)
c.7903A>C (p.Thr2635Pro)
c.7867A>C (p.Thr2623Pro)
c.7819A>C (p.Thr2607Pro)
c.7777A>C (p.Thr2593Pro)
8g.133133510A>GCA372253125TGc.8038A>G (p.Thr2680Ala)
c.3404A>G
c.2437A>G (p.Thr813Ala)
c.250A>G (p.Thr84Ala)
n.124A>G
c.4693A>G
c.7846A>G (p.Thr2616Ala)
c.7975A>G (p.Thr2659Ala)
c.7972A>G (p.Thr2658Ala)
c.7903A>G (p.Thr2635Ala)
c.7867A>G (p.Thr2623Ala)
c.7819A>G (p.Thr2607Ala)
c.7777A>G (p.Thr2593Ala)
8g.133133510A>TCA372253127TGc.8038A>T (p.Thr2680Ser)
c.3404A>T
c.2437A>T (p.Thr813Ser)
c.250A>T (p.Thr84Ser)
n.124A>T
c.4693A>T
c.7846A>T (p.Thr2616Ser)
c.7975A>T (p.Thr2659Ser)
c.7972A>T (p.Thr2658Ser)
c.7903A>T (p.Thr2635Ser)
c.7867A>T (p.Thr2623Ser)
c.7819A>T (p.Thr2607Ser)
c.7777A>T (p.Thr2593Ser)
 dbSNP
8g.133133511C>ACA372253133TGc.8039C>A (p.Thr2680Lys)
c.3405C>A
c.2438C>A (p.Thr813Lys)
c.251C>A (p.Thr84Lys)
n.125C>A
c.4694C>A
c.7847C>A (p.Thr2616Lys)
c.7976C>A (p.Thr2659Lys)
c.7973C>A (p.Thr2658Lys)
c.7904C>A (p.Thr2635Lys)
c.7868C>A (p.Thr2623Lys)
c.7820C>A (p.Thr2607Lys)
c.7778C>A (p.Thr2593Lys)
8g.133133511C=CA1821104901TGc.8039C= (p.Thr2680=)
c.3405C=
c.2438C= (p.Thr813=)
c.251C= (p.Thr84=)
n.125C=
c.4694C=
c.7847C= (p.Thr2616=)
c.7976C= (p.Thr2659=)
c.7973C= (p.Thr2658=)
c.7904C= (p.Thr2635=)
c.7868C= (p.Thr2623=)
c.7820C= (p.Thr2607=)
c.7778C= (p.Thr2593=)
8g.133133511C>GCA372253131TGc.8039C>G (p.Thr2680Arg)
c.3405C>G
c.2438C>G (p.Thr813Arg)
c.251C>G (p.Thr84Arg)
n.125C>G
c.4694C>G
c.7847C>G (p.Thr2616Arg)
c.7976C>G (p.Thr2659Arg)
c.7973C>G (p.Thr2658Arg)
c.7904C>G (p.Thr2635Arg)
c.7868C>G (p.Thr2623Arg)
c.7820C>G (p.Thr2607Arg)
c.7778C>G (p.Thr2593Arg)
8g.133133511C>TCA372253129TGc.8039C>T (p.Thr2680Ile)
c.3405C>T
c.2438C>T (p.Thr813Ile)
c.251C>T (p.Thr84Ile)
n.125C>T
c.4694C>T
c.7847C>T (p.Thr2616Ile)
c.7976C>T (p.Thr2659Ile)
c.7973C>T (p.Thr2658Ile)
c.7904C>T (p.Thr2635Ile)
c.7868C>T (p.Thr2623Ile)
c.7820C>T (p.Thr2607Ile)
c.7778C>T (p.Thr2593Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133512A>CCA463017045TGc.8040A>C (p.Thr2680=)
c.3406A>C
c.2439A>C (p.Thr813=)
c.252A>C (p.Thr84=)
n.126A>C
c.4695A>C
c.7848A>C (p.Thr2616=)
c.7977A>C (p.Thr2659=)
c.7974A>C (p.Thr2658=)
c.7905A>C (p.Thr2635=)
c.7869A>C (p.Thr2623=)
c.7821A>C (p.Thr2607=)
c.7779A>C (p.Thr2593=)
8g.133133512A>GCA463017048TGc.8040A>G (p.Thr2680=)
c.3406A>G
c.2439A>G (p.Thr813=)
c.252A>G (p.Thr84=)
n.126A>G
c.4695A>G
c.7848A>G (p.Thr2616=)
c.7977A>G (p.Thr2659=)
c.7974A>G (p.Thr2658=)
c.7905A>G (p.Thr2635=)
c.7869A>G (p.Thr2623=)
c.7821A>G (p.Thr2607=)
c.7779A>G (p.Thr2593=)
8g.133133512A>TCA463017051TGc.8040A>T (p.Thr2680=)
c.3406A>T
c.2439A>T (p.Thr813=)
c.252A>T (p.Thr84=)
n.126A>T
c.4695A>T
c.7848A>T (p.Thr2616=)
c.7977A>T (p.Thr2659=)
c.7974A>T (p.Thr2658=)
c.7905A>T (p.Thr2635=)
c.7869A>T (p.Thr2623=)
c.7821A>T (p.Thr2607=)
c.7779A>T (p.Thr2593=)
8g.133133513T>ACA372253135TGc.8041T>A (p.Phe2681Ile)
c.3407T>A
c.2440T>A (p.Phe814Ile)
c.253T>A (p.Phe85Ile)
n.127T>A
c.4696T>A
c.7849T>A (p.Phe2617Ile)
c.7978T>A (p.Phe2660Ile)
c.7975T>A (p.Phe2659Ile)
c.7906T>A (p.Phe2636Ile)
c.7870T>A (p.Phe2624Ile)
c.7822T>A (p.Phe2608Ile)
c.7780T>A (p.Phe2594Ile)
 dbSNP
8g.133133513T>CCA372253137TGc.8041T>C (p.Phe2681Leu)
c.3407T>C
c.2440T>C (p.Phe814Leu)
c.253T>C (p.Phe85Leu)
n.127T>C
c.4696T>C
c.7849T>C (p.Phe2617Leu)
c.7978T>C (p.Phe2660Leu)
c.7975T>C (p.Phe2659Leu)
c.7906T>C (p.Phe2636Leu)
c.7870T>C (p.Phe2624Leu)
c.7822T>C (p.Phe2608Leu)
c.7780T>C (p.Phe2594Leu)
8g.133133513T>GCA372253139TGc.8041T>G (p.Phe2681Val)
c.3407T>G
c.2440T>G (p.Phe814Val)
c.253T>G (p.Phe85Val)
n.127T>G
c.4696T>G
c.7849T>G (p.Phe2617Val)
c.7978T>G (p.Phe2660Val)
c.7975T>G (p.Phe2659Val)
c.7906T>G (p.Phe2636Val)
c.7870T>G (p.Phe2624Val)
c.7822T>G (p.Phe2608Val)
c.7780T>G (p.Phe2594Val)
8g.133133513T=CA1821104902TGc.8041T= (p.Phe2681=)
c.3407T=
c.2440T= (p.Phe814=)
c.253T= (p.Phe85=)
n.127T=
c.4696T=
c.7849T= (p.Phe2617=)
c.7978T= (p.Phe2660=)
c.7975T= (p.Phe2659=)
c.7906T= (p.Phe2636=)
c.7870T= (p.Phe2624=)
c.7822T= (p.Phe2608=)
c.7780T= (p.Phe2594=)
8g.133133514T>ACA372253141TGc.8042T>A (p.Phe2681Tyr)
c.3408T>A
c.2441T>A (p.Phe814Tyr)
c.254T>A (p.Phe85Tyr)
n.128T>A
c.4697T>A
c.7850T>A (p.Phe2617Tyr)
c.7979T>A (p.Phe2660Tyr)
c.7976T>A (p.Phe2659Tyr)
c.7907T>A (p.Phe2636Tyr)
c.7871T>A (p.Phe2624Tyr)
c.7823T>A (p.Phe2608Tyr)
c.7781T>A (p.Phe2594Tyr)
8g.133133514T>CCA372253143TGc.8042T>C (p.Phe2681Ser)
c.3408T>C
c.2441T>C (p.Phe814Ser)
c.254T>C (p.Phe85Ser)
n.128T>C
c.4697T>C
c.7850T>C (p.Phe2617Ser)
c.7979T>C (p.Phe2660Ser)
c.7976T>C (p.Phe2659Ser)
c.7907T>C (p.Phe2636Ser)
c.7871T>C (p.Phe2624Ser)
c.7823T>C (p.Phe2608Ser)
c.7781T>C (p.Phe2594Ser)
8g.133133514T>GCA372253146TGc.8042T>G (p.Phe2681Cys)
c.3408T>G
c.2441T>G (p.Phe814Cys)
c.254T>G (p.Phe85Cys)
n.128T>G
c.4697T>G
c.7850T>G (p.Phe2617Cys)
c.7979T>G (p.Phe2660Cys)
c.7976T>G (p.Phe2659Cys)
c.7907T>G (p.Phe2636Cys)
c.7871T>G (p.Phe2624Cys)
c.7823T>G (p.Phe2608Cys)
c.7781T>G (p.Phe2594Cys)
8g.133133515T>ACA372253149TGc.8043T>A (p.Phe2681Leu)
c.3409T>A
c.2442T>A (p.Phe814Leu)
c.255T>A (p.Phe85Leu)
n.129T>A
c.4698T>A
c.7851T>A (p.Phe2617Leu)
c.7980T>A (p.Phe2660Leu)
c.7977T>A (p.Phe2659Leu)
c.7908T>A (p.Phe2636Leu)
c.7872T>A (p.Phe2624Leu)
c.7824T>A (p.Phe2608Leu)
c.7782T>A (p.Phe2594Leu)
8g.133133515T>CCA463017053TGc.8043T>C (p.Phe2681=)
c.3409T>C
c.2442T>C (p.Phe814=)
c.255T>C (p.Phe85=)
n.129T>C
c.4698T>C
c.7851T>C (p.Phe2617=)
c.7980T>C (p.Phe2660=)
c.7977T>C (p.Phe2659=)
c.7908T>C (p.Phe2636=)
c.7872T>C (p.Phe2624=)
c.7824T>C (p.Phe2608=)
c.7782T>C (p.Phe2594=)
 ClinVar dbSNP
8g.133133515T>GCA372253150TGc.8043T>G (p.Phe2681Leu)
c.3409T>G
c.2442T>G (p.Phe814Leu)
c.255T>G (p.Phe85Leu)
n.129T>G
c.4698T>G
c.7851T>G (p.Phe2617Leu)
c.7980T>G (p.Phe2660Leu)
c.7977T>G (p.Phe2659Leu)
c.7908T>G (p.Phe2636Leu)
c.7872T>G (p.Phe2624Leu)
c.7824T>G (p.Phe2608Leu)
c.7782T>G (p.Phe2594Leu)
8g.133133515T=CA1821104903TGc.8043T= (p.Phe2681=)
c.3409T=
c.2442T= (p.Phe814=)
c.255T= (p.Phe85=)
n.129T=
c.4698T=
c.7851T= (p.Phe2617=)
c.7980T= (p.Phe2660=)
c.7977T= (p.Phe2659=)
c.7908T= (p.Phe2636=)
c.7872T= (p.Phe2624=)
c.7824T= (p.Phe2608=)
c.7782T= (p.Phe2594=)
8g.133133516G>ACA372253151TGc.8044G>A (p.Ala2682Thr)
c.3410G>A
c.2443G>A (p.Ala815Thr)
c.256G>A (p.Ala86Thr)
n.130G>A
c.4699G>A
c.7852G>A (p.Ala2618Thr)
c.7981G>A (p.Ala2661Thr)
c.7978G>A (p.Ala2660Thr)
c.7909G>A (p.Ala2637Thr)
c.7873G>A (p.Ala2625Thr)
c.7825G>A (p.Ala2609Thr)
c.7783G>A (p.Ala2595Thr)
 dbSNP
8g.133133516G>CCA372253153TGc.8044G>C (p.Ala2682Pro)
c.3410G>C
c.2443G>C (p.Ala815Pro)
c.256G>C (p.Ala86Pro)
n.130G>C
c.4699G>C
c.7852G>C (p.Ala2618Pro)
c.7981G>C (p.Ala2661Pro)
c.7978G>C (p.Ala2660Pro)
c.7909G>C (p.Ala2637Pro)
c.7873G>C (p.Ala2625Pro)
c.7825G>C (p.Ala2609Pro)
c.7783G>C (p.Ala2595Pro)
8g.133133516G=CA1821104904TGc.8044G= (p.Ala2682=)
c.3410G=
c.2443G= (p.Ala815=)
c.256G= (p.Ala86=)
n.130G=
c.4699G=
c.7852G= (p.Ala2618=)
c.7981G= (p.Ala2661=)
c.7978G= (p.Ala2660=)
c.7909G= (p.Ala2637=)
c.7873G= (p.Ala2625=)
c.7825G= (p.Ala2609=)
c.7783G= (p.Ala2595=)
8g.133133516G>TCA372253155TGc.8044G>T (p.Ala2682Ser)
c.3410G>T
c.2443G>T (p.Ala815Ser)
c.256G>T (p.Ala86Ser)
n.130G>T
c.4699G>T
c.7852G>T (p.Ala2618Ser)
c.7981G>T (p.Ala2661Ser)
c.7978G>T (p.Ala2660Ser)
c.7909G>T (p.Ala2637Ser)
c.7873G>T (p.Ala2625Ser)
c.7825G>T (p.Ala2609Ser)
c.7783G>T (p.Ala2595Ser)
8g.133133517C>ACA372253159TGc.8045C>A (p.Ala2682Glu)
c.3411C>A
c.2444C>A (p.Ala815Glu)
c.257C>A (p.Ala86Glu)
n.131C>A
c.4700C>A
c.7853C>A (p.Ala2618Glu)
c.7982C>A (p.Ala2661Glu)
c.7979C>A (p.Ala2660Glu)
c.7910C>A (p.Ala2637Glu)
c.7874C>A (p.Ala2625Glu)
c.7826C>A (p.Ala2609Glu)
c.7784C>A (p.Ala2595Glu)
8g.133133517C=CA1821104905TGc.8045C= (p.Ala2682=)
c.3411C=
c.2444C= (p.Ala815=)
c.257C= (p.Ala86=)
n.131C=
c.4700C=
c.7853C= (p.Ala2618=)
c.7982C= (p.Ala2661=)
c.7979C= (p.Ala2660=)
c.7910C= (p.Ala2637=)
c.7874C= (p.Ala2625=)
c.7826C= (p.Ala2609=)
c.7784C= (p.Ala2595=)
8g.133133517C>GCA372253161TGc.8045C>G (p.Ala2682Gly)
c.3411C>G
c.2444C>G (p.Ala815Gly)
c.257C>G (p.Ala86Gly)
n.131C>G
c.4700C>G
c.7853C>G (p.Ala2618Gly)
c.7982C>G (p.Ala2661Gly)
c.7979C>G (p.Ala2660Gly)
c.7910C>G (p.Ala2637Gly)
c.7874C>G (p.Ala2625Gly)
c.7826C>G (p.Ala2609Gly)
c.7784C>G (p.Ala2595Gly)
8g.133133517C>TCA372253157TGc.8045C>T (p.Ala2682Val)
c.3411C>T
c.2444C>T (p.Ala815Val)
c.257C>T (p.Ala86Val)
n.131C>T
c.4700C>T
c.7853C>T (p.Ala2618Val)
c.7982C>T (p.Ala2661Val)
c.7979C>T (p.Ala2660Val)
c.7910C>T (p.Ala2637Val)
c.7874C>T (p.Ala2625Val)
c.7826C>T (p.Ala2609Val)
c.7784C>T (p.Ala2595Val)
 dbSNP gnomAD v2 gnomAD v4
8g.133133518A=CA1821104906TGc.8046A= (p.Ala2682=)
c.3412A=
c.2445A= (p.Ala815=)
c.258A= (p.Ala86=)
n.132A=
c.4701A=
c.7854A= (p.Ala2618=)
c.7983A= (p.Ala2661=)
c.7980A= (p.Ala2660=)
c.7911A= (p.Ala2637=)
c.7875A= (p.Ala2625=)
c.7827A= (p.Ala2609=)
c.7785A= (p.Ala2595=)
8g.133133518A>CCA463017058TGc.8046A>C (p.Ala2682=)
c.3412A>C
c.2445A>C (p.Ala815=)
c.258A>C (p.Ala86=)
n.132A>C
c.4701A>C
c.7854A>C (p.Ala2618=)
c.7983A>C (p.Ala2661=)
c.7980A>C (p.Ala2660=)
c.7911A>C (p.Ala2637=)
c.7875A>C (p.Ala2625=)
c.7827A>C (p.Ala2609=)
c.7785A>C (p.Ala2595=)
 ClinVar dbSNP
8g.133133518A>GCA463017057TGc.8046A>G (p.Ala2682=)
c.3412A>G
c.2445A>G (p.Ala815=)
c.258A>G (p.Ala86=)
n.132A>G
c.4701A>G
c.7854A>G (p.Ala2618=)
c.7983A>G (p.Ala2661=)
c.7980A>G (p.Ala2660=)
c.7911A>G (p.Ala2637=)
c.7875A>G (p.Ala2625=)
c.7827A>G (p.Ala2609=)
c.7785A>G (p.Ala2595=)
8g.133133518A>TCA463017056TGc.8046A>T (p.Ala2682=)
c.3412A>T
c.2445A>T (p.Ala815=)
c.258A>T (p.Ala86=)
n.132A>T
c.4701A>T
c.7854A>T (p.Ala2618=)
c.7983A>T (p.Ala2661=)
c.7980A>T (p.Ala2660=)
c.7911A>T (p.Ala2637=)
c.7875A>T (p.Ala2625=)
c.7827A>T (p.Ala2609=)
c.7785A>T (p.Ala2595=)
8g.133133518_133133519insCTCGGTCA1821104907TGc.8046_8047insCTCGGT (p.Ala2682_Thr2683insLeuGly)
c.3412_3413insCTCGGT
c.2445_2446insCTCGGT (p.Ala815_Thr816insLeuGly)
c.258_259insCTCGGT (p.Ala86_Thr87insLeuGly)
n.132_133insCTCGGT
c.4701_4702insCTCGGT
c.7854_7855insCTCGGT (p.Ala2618_Thr2619insLeuGly)
c.7983_7984insCTCGGT (p.Ala2661_Thr2662insLeuGly)
c.7980_7981insCTCGGT (p.Ala2660_Thr2661insLeuGly)
c.7911_7912insCTCGGT (p.Ala2637_Thr2638insLeuGly)
c.7875_7876insCTCGGT (p.Ala2625_Thr2626insLeuGly)
c.7827_7828insCTCGGT (p.Ala2609_Thr2610insLeuGly)
c.7785_7786insCTCGGT (p.Ala2595_Thr2596insLeuGly)
 dbSNP
8g.133133519A>CCA372253162TGc.8047A>C (p.Thr2683Pro)
c.3413A>C
c.2446A>C (p.Thr816Pro)
c.259A>C (p.Thr87Pro)
n.133A>C
c.4702A>C
c.7855A>C (p.Thr2619Pro)
c.7984A>C (p.Thr2662Pro)
c.7981A>C (p.Thr2661Pro)
c.7912A>C (p.Thr2638Pro)
c.7876A>C (p.Thr2626Pro)
c.7828A>C (p.Thr2610Pro)
c.7786A>C (p.Thr2596Pro)
8g.133133519A>GCA372253164TGc.8047A>G (p.Thr2683Ala)
c.3413A>G
c.2446A>G (p.Thr816Ala)
c.259A>G (p.Thr87Ala)
n.133A>G
c.4702A>G
c.7855A>G (p.Thr2619Ala)
c.7984A>G (p.Thr2662Ala)
c.7981A>G (p.Thr2661Ala)
c.7912A>G (p.Thr2638Ala)
c.7876A>G (p.Thr2626Ala)
c.7828A>G (p.Thr2610Ala)
c.7786A>G (p.Thr2596Ala)
8g.133133519A>TCA372253165TGc.8047A>T (p.Thr2683Ser)
c.3413A>T
c.2446A>T (p.Thr816Ser)
c.259A>T (p.Thr87Ser)
n.133A>T
c.4702A>T
c.7855A>T (p.Thr2619Ser)
c.7984A>T (p.Thr2662Ser)
c.7981A>T (p.Thr2661Ser)
c.7912A>T (p.Thr2638Ser)
c.7876A>T (p.Thr2626Ser)
c.7828A>T (p.Thr2610Ser)
c.7786A>T (p.Thr2596Ser)
8g.133133520C>ACA372253166TGc.8048C>A (p.Thr2683Asn)
c.3414C>A
c.2447C>A (p.Thr816Asn)
c.260C>A (p.Thr87Asn)
n.134C>A
c.4703C>A
c.7856C>A (p.Thr2619Asn)
c.7985C>A (p.Thr2662Asn)
c.7982C>A (p.Thr2661Asn)
c.7913C>A (p.Thr2638Asn)
c.7877C>A (p.Thr2626Asn)
c.7829C>A (p.Thr2610Asn)
c.7787C>A (p.Thr2596Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.133133520C=CA1821104908TGc.8048C= (p.Thr2683=)
c.3414C=
c.2447C= (p.Thr816=)
c.260C= (p.Thr87=)
n.134C=
c.4703C=
c.7856C= (p.Thr2619=)
c.7985C= (p.Thr2662=)
c.7982C= (p.Thr2661=)
c.7913C= (p.Thr2638=)
c.7877C= (p.Thr2626=)
c.7829C= (p.Thr2610=)
c.7787C= (p.Thr2596=)
8g.133133520C>GCA372253167TGc.8048C>G (p.Thr2683Ser)
c.3414C>G
c.2447C>G (p.Thr816Ser)
c.260C>G (p.Thr87Ser)
n.134C>G
c.4703C>G
c.7856C>G (p.Thr2619Ser)
c.7985C>G (p.Thr2662Ser)
c.7982C>G (p.Thr2661Ser)
c.7913C>G (p.Thr2638Ser)
c.7877C>G (p.Thr2626Ser)
c.7829C>G (p.Thr2610Ser)
c.7787C>G (p.Thr2596Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.133133520C>TCA372253168TGc.8048C>T (p.Thr2683Ile)
c.3414C>T
c.2447C>T (p.Thr816Ile)
c.260C>T (p.Thr87Ile)
n.134C>T
c.4703C>T
c.7856C>T (p.Thr2619Ile)
c.7985C>T (p.Thr2662Ile)
c.7982C>T (p.Thr2661Ile)
c.7913C>T (p.Thr2638Ile)
c.7877C>T (p.Thr2626Ile)
c.7829C>T (p.Thr2610Ile)
c.7787C>T (p.Thr2596Ile)
 gnomAD v4
8g.133133524delCA463017066TGc.8052del (p.Trp2685GlyfsTer26)
c.3418del
c.2451del (p.Trp818GlyfsTer26)
c.264del (p.Trp89GlyfsTer26)
n.138del
c.4707del
c.7860del (p.Trp2621GlyfsTer26)
c.7989del (p.Trp2664GlyfsTer26)
c.7986del (p.Trp2663GlyfsTer26)
c.7917del (p.Trp2640GlyfsTer26)
c.7881del (p.Trp2628GlyfsTer26)
c.7833del (p.Trp2612GlyfsTer26)
c.7791del (p.Trp2598GlyfsTer26)
 COSMIC
8g.133133521C>ACA463017067TGc.8049C>A (p.Thr2683=)
c.3415C>A
c.2448C>A (p.Thr816=)
c.261C>A (p.Thr87=)
n.135C>A
c.4704C>A
c.7857C>A (p.Thr2619=)
c.7986C>A (p.Thr2662=)
c.7983C>A (p.Thr2661=)
c.7914C>A (p.Thr2638=)
c.7878C>A (p.Thr2626=)
c.7830C>A (p.Thr2610=)
c.7788C>A (p.Thr2596=)
 gnomAD v4
8g.133133521C>GCA463017068TGc.8049C>G (p.Thr2683=)
c.3415C>G
c.2448C>G (p.Thr816=)
c.261C>G (p.Thr87=)
n.135C>G
c.4704C>G
c.7857C>G (p.Thr2619=)
c.7986C>G (p.Thr2662=)
c.7983C>G (p.Thr2661=)
c.7914C>G (p.Thr2638=)
c.7878C>G (p.Thr2626=)
c.7830C>G (p.Thr2610=)
c.7788C>G (p.Thr2596=)
8g.133133521C>TCA463017070TGc.8049C>T (p.Thr2683=)
c.3415C>T
c.2448C>T (p.Thr816=)
c.261C>T (p.Thr87=)
n.135C>T
c.4704C>T
c.7857C>T (p.Thr2619=)
c.7986C>T (p.Thr2662=)
c.7983C>T (p.Thr2661=)
c.7914C>T (p.Thr2638=)
c.7878C>T (p.Thr2626=)
c.7830C>T (p.Thr2610=)
c.7788C>T (p.Thr2596=)
 ClinVar gnomAD v4
8g.133133522C>ACA372253169TGc.8050C>A (p.Pro2684Thr)
c.3416C>A
c.2449C>A (p.Pro817Thr)
c.262C>A (p.Pro88Thr)
n.136C>A
c.4705C>A
c.7858C>A (p.Pro2620Thr)
c.7987C>A (p.Pro2663Thr)
c.7984C>A (p.Pro2662Thr)
c.7915C>A (p.Pro2639Thr)
c.7879C>A (p.Pro2627Thr)
c.7831C>A (p.Pro2611Thr)
c.7789C>A (p.Pro2597Thr)
8g.133133522C>GCA372253170TGc.8050C>G (p.Pro2684Ala)
c.3416C>G
c.2449C>G (p.Pro817Ala)
c.262C>G (p.Pro88Ala)
n.136C>G
c.4705C>G
c.7858C>G (p.Pro2620Ala)
c.7987C>G (p.Pro2663Ala)
c.7984C>G (p.Pro2662Ala)
c.7915C>G (p.Pro2639Ala)
c.7879C>G (p.Pro2627Ala)
c.7831C>G (p.Pro2611Ala)
c.7789C>G (p.Pro2597Ala)
8g.133133522C>TCA372253171TGc.8050C>T (p.Pro2684Ser)
c.3416C>T
c.2449C>T (p.Pro817Ser)
c.262C>T (p.Pro88Ser)
n.136C>T
c.4705C>T
c.7858C>T (p.Pro2620Ser)
c.7987C>T (p.Pro2663Ser)
c.7984C>T (p.Pro2662Ser)
c.7915C>T (p.Pro2639Ser)
c.7879C>T (p.Pro2627Ser)
c.7831C>T (p.Pro2611Ser)
c.7789C>T (p.Pro2597Ser)
8g.133133523C>ACA372253173TGc.8051C>A (p.Pro2684His)
c.3417C>A
c.2450C>A (p.Pro817His)
c.263C>A (p.Pro88His)
n.137C>A
c.4706C>A
c.7859C>A (p.Pro2620His)
c.7988C>A (p.Pro2663His)
c.7985C>A (p.Pro2662His)
c.7916C>A (p.Pro2639His)
c.7880C>A (p.Pro2627His)
c.7832C>A (p.Pro2611His)
c.7790C>A (p.Pro2597His)
8g.133133523C>GCA372253175TGc.8051C>G (p.Pro2684Arg)
c.3417C>G
c.2450C>G (p.Pro817Arg)
c.263C>G (p.Pro88Arg)
n.137C>G
c.4706C>G
c.7859C>G (p.Pro2620Arg)
c.7988C>G (p.Pro2663Arg)
c.7985C>G (p.Pro2662Arg)
c.7916C>G (p.Pro2639Arg)
c.7880C>G (p.Pro2627Arg)
c.7832C>G (p.Pro2611Arg)
c.7790C>G (p.Pro2597Arg)
 gnomAD v4
8g.133133523C>TCA372253177TGc.8051C>T (p.Pro2684Leu)
c.3417C>T
c.2450C>T (p.Pro817Leu)
c.263C>T (p.Pro88Leu)
n.137C>T
c.4706C>T
c.7859C>T (p.Pro2620Leu)
c.7988C>T (p.Pro2663Leu)
c.7985C>T (p.Pro2662Leu)
c.7916C>T (p.Pro2639Leu)
c.7880C>T (p.Pro2627Leu)
c.7832C>T (p.Pro2611Leu)
c.7790C>T (p.Pro2597Leu)
8g.133133524C>ACA463017071TGc.8052C>A (p.Pro2684=)
c.3418C>A
c.2451C>A (p.Pro817=)
c.264C>A (p.Pro88=)
n.138C>A
c.4707C>A
c.7860C>A (p.Pro2620=)
c.7989C>A (p.Pro2663=)
c.7986C>A (p.Pro2662=)
c.7917C>A (p.Pro2639=)
c.7881C>A (p.Pro2627=)
c.7833C>A (p.Pro2611=)
c.7791C>A (p.Pro2597=)
8g.133133524C>GCA463017072TGc.8052C>G (p.Pro2684=)
c.3418C>G
c.2451C>G (p.Pro817=)
c.264C>G (p.Pro88=)
n.138C>G
c.4707C>G
c.7860C>G (p.Pro2620=)
c.7989C>G (p.Pro2663=)
c.7986C>G (p.Pro2662=)
c.7917C>G (p.Pro2639=)
c.7881C>G (p.Pro2627=)
c.7833C>G (p.Pro2611=)
c.7791C>G (p.Pro2597=)
 gnomAD v4
8g.133133524C>TCA463017073TGc.8052C>T (p.Pro2684=)
c.3418C>T
c.2451C>T (p.Pro817=)
c.264C>T (p.Pro88=)
n.138C>T
c.4707C>T
c.7860C>T (p.Pro2620=)
c.7989C>T (p.Pro2663=)
c.7986C>T (p.Pro2662=)
c.7917C>T (p.Pro2639=)
c.7881C>T (p.Pro2627=)
c.7833C>T (p.Pro2611=)
c.7791C>T (p.Pro2597=)
8g.133133525T>ACA372253183TGc.8053T>A (p.Trp2685Arg)
c.3419T>A
c.2452T>A (p.Trp818Arg)
c.265T>A (p.Trp89Arg)
n.139T>A
c.4708T>A
c.7861T>A (p.Trp2621Arg)
c.7990T>A (p.Trp2664Arg)
c.7987T>A (p.Trp2663Arg)
c.7918T>A (p.Trp2640Arg)
c.7882T>A (p.Trp2628Arg)
c.7834T>A (p.Trp2612Arg)
c.7792T>A (p.Trp2598Arg)
8g.133133525T>CCA372253179TGc.8053T>C (p.Trp2685Arg)
c.3419T>C
c.2452T>C (p.Trp818Arg)
c.265T>C (p.Trp89Arg)
n.139T>C
c.4708T>C
c.7861T>C (p.Trp2621Arg)
c.7990T>C (p.Trp2664Arg)
c.7987T>C (p.Trp2663Arg)
c.7918T>C (p.Trp2640Arg)
c.7882T>C (p.Trp2628Arg)
c.7834T>C (p.Trp2612Arg)
c.7792T>C (p.Trp2598Arg)
8g.133133525T>GCA372253181TGc.8053T>G (p.Trp2685Gly)
c.3419T>G
c.2452T>G (p.Trp818Gly)
c.265T>G (p.Trp89Gly)
n.139T>G
c.4708T>G
c.7861T>G (p.Trp2621Gly)
c.7990T>G (p.Trp2664Gly)
c.7987T>G (p.Trp2663Gly)
c.7918T>G (p.Trp2640Gly)
c.7882T>G (p.Trp2628Gly)
c.7834T>G (p.Trp2612Gly)
c.7792T>G (p.Trp2598Gly)
8g.133133526G>ACA372253185TGc.8054G>A (p.Trp2685Ter)
c.3420G>A
c.2453G>A (p.Trp818Ter)
c.266G>A (p.Trp89Ter)
n.140G>A
c.4709G>A
c.7862G>A (p.Trp2621Ter)
c.7991G>A (p.Trp2664Ter)
c.7988G>A (p.Trp2663Ter)
c.7919G>A (p.Trp2640Ter)
c.7883G>A (p.Trp2628Ter)
c.7835G>A (p.Trp2612Ter)
c.7793G>A (p.Trp2598Ter)
8g.133133526G>CCA372253187TGc.8054G>C (p.Trp2685Ser)
c.3420G>C
c.2453G>C (p.Trp818Ser)
c.266G>C (p.Trp89Ser)
n.140G>C
c.4709G>C
c.7862G>C (p.Trp2621Ser)
c.7991G>C (p.Trp2664Ser)
c.7988G>C (p.Trp2663Ser)
c.7919G>C (p.Trp2640Ser)
c.7883G>C (p.Trp2628Ser)
c.7835G>C (p.Trp2612Ser)
c.7793G>C (p.Trp2598Ser)
8g.133133526G>TCA372253189TGc.8054G>T (p.Trp2685Leu)
c.3420G>T
c.2453G>T (p.Trp818Leu)
c.266G>T (p.Trp89Leu)
n.140G>T
c.4709G>T
c.7862G>T (p.Trp2621Leu)
c.7991G>T (p.Trp2664Leu)
c.7988G>T (p.Trp2663Leu)
c.7919G>T (p.Trp2640Leu)
c.7883G>T (p.Trp2628Leu)
c.7835G>T (p.Trp2612Leu)
c.7793G>T (p.Trp2598Leu)
8g.133133527G>ACA372253191TGc.8055G>A (p.Trp2685Ter)
c.3421G>A
c.2454G>A (p.Trp818Ter)
c.267G>A (p.Trp89Ter)
n.141G>A
c.4710G>A
c.7863G>A (p.Trp2621Ter)
c.7992G>A (p.Trp2664Ter)
c.7989G>A (p.Trp2663Ter)
c.7920G>A (p.Trp2640Ter)
c.7884G>A (p.Trp2628Ter)
c.7836G>A (p.Trp2612Ter)
c.7794G>A (p.Trp2598Ter)
 ClinVar dbSNP
8g.133133527G>CCA372253192TGc.8055G>C (p.Trp2685Cys)
c.3421G>C
c.2454G>C (p.Trp818Cys)
c.267G>C (p.Trp89Cys)
n.141G>C
c.4710G>C
c.7863G>C (p.Trp2621Cys)
c.7992G>C (p.Trp2664Cys)
c.7989G>C (p.Trp2663Cys)
c.7920G>C (p.Trp2640Cys)
c.7884G>C (p.Trp2628Cys)
c.7836G>C (p.Trp2612Cys)
c.7794G>C (p.Trp2598Cys)
8g.133133527G=CA1821104910TGc.8055G= (p.Trp2685=)
c.3421G=
c.2454G= (p.Trp818=)
c.267G= (p.Trp89=)
n.141G=
c.4710G=
c.7863G= (p.Trp2621=)
c.7992G= (p.Trp2664=)
c.7989G= (p.Trp2663=)
c.7920G= (p.Trp2640=)
c.7884G= (p.Trp2628=)
c.7836G= (p.Trp2612=)
c.7794G= (p.Trp2598=)
8g.133133527G>TCA372253193TGc.8055G>T (p.Trp2685Cys)
c.3421G>T
c.2454G>T (p.Trp818Cys)
c.267G>T (p.Trp89Cys)
n.141G>T
c.4710G>T
c.7863G>T (p.Trp2621Cys)
c.7992G>T (p.Trp2664Cys)
c.7989G>T (p.Trp2663Cys)
c.7920G>T (p.Trp2640Cys)
c.7884G>T (p.Trp2628Cys)
c.7836G>T (p.Trp2612Cys)
c.7794G>T (p.Trp2598Cys)
 gnomAD v4
8g.133133527_133133528delinsGCCA1821104909TGc.8055_8056delinsGC (p.Trp2685=)
c.3421_3422delinsGC
c.2454_2455delinsGC (p.Trp818=)
c.267_268delinsGC (p.Trp89=)
n.141_142delinsGC
c.4710_4711delinsGC
c.7863_7864delinsGC (p.Trp2621=)
c.7992_7993delinsGC (p.Trp2664=)
c.7989_7990delinsGC (p.Trp2663=)
c.7920_7921delinsGC (p.Trp2640=)
c.7884_7885delinsGC (p.Trp2628=)
c.7836_7837delinsGC (p.Trp2612=)
c.7794_7795delinsGC (p.Trp2598=)
8g.133133528C>ACA372253195TGc.8056C>A (p.Pro2686Thr)
c.3422C>A
c.2455C>A (p.Pro819Thr)
c.268C>A (p.Pro90Thr)
n.142C>A
c.4711C>A
c.7864C>A (p.Pro2622Thr)
c.7993C>A (p.Pro2665Thr)
c.7990C>A (p.Pro2664Thr)
c.7921C>A (p.Pro2641Thr)
c.7885C>A (p.Pro2629Thr)
c.7837C>A (p.Pro2613Thr)
c.7795C>A (p.Pro2599Thr)
 ClinVar
8g.133133528C=CA1821104911TGc.8056C= (p.Pro2686=)
c.3422C=
c.2455C= (p.Pro819=)
c.268C= (p.Pro90=)
n.142C=
c.4711C=
c.7864C= (p.Pro2622=)
c.7993C= (p.Pro2665=)
c.7990C= (p.Pro2664=)
c.7921C= (p.Pro2641=)
c.7885C= (p.Pro2629=)
c.7837C= (p.Pro2613=)
c.7795C= (p.Pro2599=)
8g.133133528C>GCA372253196TGc.8056C>G (p.Pro2686Ala)
c.3422C>G
c.2455C>G (p.Pro819Ala)
c.268C>G (p.Pro90Ala)
n.142C>G
c.4711C>G
c.7864C>G (p.Pro2622Ala)
c.7993C>G (p.Pro2665Ala)
c.7990C>G (p.Pro2664Ala)
c.7921C>G (p.Pro2641Ala)
c.7885C>G (p.Pro2629Ala)
c.7837C>G (p.Pro2613Ala)
c.7795C>G (p.Pro2599Ala)
 dbSNP
8g.133133528C>TCA372253198TGc.8056C>T (p.Pro2686Ser)
c.3422C>T
c.2455C>T (p.Pro819Ser)
c.268C>T (p.Pro90Ser)
n.142C>T
c.4711C>T
c.7864C>T (p.Pro2622Ser)
c.7993C>T (p.Pro2665Ser)
c.7990C>T (p.Pro2664Ser)
c.7921C>T (p.Pro2641Ser)
c.7885C>T (p.Pro2629Ser)
c.7837C>T (p.Pro2613Ser)
c.7795C>T (p.Pro2599Ser)
 COSMIC
8g.133133529delCA585277894TGc.8057del (p.Pro2686LeufsTer25)
c.3423del
c.2456del (p.Pro819LeufsTer25)
c.269del (p.Pro90LeufsTer25)
n.143del
c.4712del
c.7865del (p.Pro2622LeufsTer25)
c.7994del (p.Pro2665LeufsTer25)
c.7991del (p.Pro2664LeufsTer25)
c.7922del (p.Pro2641LeufsTer25)
c.7886del (p.Pro2629LeufsTer25)
c.7838del (p.Pro2613LeufsTer25)
c.7796del (p.Pro2599LeufsTer25)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.133133529C>ACA372253200TGc.8057C>A (p.Pro2686His)
c.3423C>A
c.2456C>A (p.Pro819His)
c.269C>A (p.Pro90His)
n.143C>A
c.4712C>A
c.7865C>A (p.Pro2622His)
c.7994C>A (p.Pro2665His)
c.7991C>A (p.Pro2664His)
c.7922C>A (p.Pro2641His)
c.7886C>A (p.Pro2629His)
c.7838C>A (p.Pro2613His)
c.7796C>A (p.Pro2599His)
8g.133133529C>GCA372253201TGc.8057C>G (p.Pro2686Arg)
c.3423C>G
c.2456C>G (p.Pro819Arg)
c.269C>G (p.Pro90Arg)
n.143C>G
c.4712C>G
c.7865C>G (p.Pro2622Arg)
c.7994C>G (p.Pro2665Arg)
c.7991C>G (p.Pro2664Arg)
c.7922C>G (p.Pro2641Arg)
c.7886C>G (p.Pro2629Arg)
c.7838C>G (p.Pro2613Arg)
c.7796C>G (p.Pro2599Arg)
8g.133133529C>TCA372253202TGc.8057C>T (p.Pro2686Leu)
c.3423C>T
c.2456C>T (p.Pro819Leu)
c.269C>T (p.Pro90Leu)
n.143C>T
c.4712C>T
c.7865C>T (p.Pro2622Leu)
c.7994C>T (p.Pro2665Leu)
c.7991C>T (p.Pro2664Leu)
c.7922C>T (p.Pro2641Leu)
c.7886C>T (p.Pro2629Leu)
c.7838C>T (p.Pro2613Leu)
c.7796C>T (p.Pro2599Leu)
8g.133133530T>ACA463017083TGc.8058T>A (p.Pro2686=)
c.3424T>A
c.2457T>A (p.Pro819=)
c.270T>A (p.Pro90=)
n.144T>A
c.4713T>A
c.7866T>A (p.Pro2622=)
c.7995T>A (p.Pro2665=)
c.7992T>A (p.Pro2664=)
c.7923T>A (p.Pro2641=)
c.7887T>A (p.Pro2629=)
c.7839T>A (p.Pro2613=)
c.7797T>A (p.Pro2599=)
8g.133133530T>CCA4885881TGc.8058T>C (p.Pro2686=)
c.3424T>C
c.2457T>C (p.Pro819=)
c.270T>C (p.Pro90=)
n.144T>C
c.4713T>C
c.7866T>C (p.Pro2622=)
c.7995T>C (p.Pro2665=)
c.7992T>C (p.Pro2664=)
c.7923T>C (p.Pro2641=)
c.7887T>C (p.Pro2629=)
c.7839T>C (p.Pro2613=)
c.7797T>C (p.Pro2599=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133530T>GCA463017085TGc.8058T>G (p.Pro2686=)
c.3424T>G
c.2457T>G (p.Pro819=)
c.270T>G (p.Pro90=)
n.144T>G
c.4713T>G
c.7866T>G (p.Pro2622=)
c.7995T>G (p.Pro2665=)
c.7992T>G (p.Pro2664=)
c.7923T>G (p.Pro2641=)
c.7887T>G (p.Pro2629=)
c.7839T>G (p.Pro2613=)
c.7797T>G (p.Pro2599=)
8g.133133530T=CA1821104912TGc.8058T= (p.Pro2686=)
c.3424T=
c.2457T= (p.Pro819=)
c.270T= (p.Pro90=)
n.144T=
c.4713T=
c.7866T= (p.Pro2622=)
c.7995T= (p.Pro2665=)
c.7992T= (p.Pro2664=)
c.7923T= (p.Pro2641=)
c.7887T= (p.Pro2629=)
c.7839T= (p.Pro2613=)
c.7797T= (p.Pro2599=)
8g.133133531G>ACA372253207TGc.8059G>A (p.Asp2687Asn)
c.3425G>A
c.2458G>A (p.Asp820Asn)
c.271G>A (p.Asp91Asn)
n.145G>A
c.4714G>A
c.7867G>A (p.Asp2623Asn)
c.7996G>A (p.Asp2666Asn)
c.7993G>A (p.Asp2665Asn)
c.7924G>A (p.Asp2642Asn)
c.7888G>A (p.Asp2630Asn)
c.7840G>A (p.Asp2614Asn)
c.7798G>A (p.Asp2600Asn)
8g.133133531G>CCA372253209TGc.8059G>C (p.Asp2687His)
c.3425G>C
c.2458G>C (p.Asp820His)
c.271G>C (p.Asp91His)
n.145G>C
c.4714G>C
c.7867G>C (p.Asp2623His)
c.7996G>C (p.Asp2666His)
c.7993G>C (p.Asp2665His)
c.7924G>C (p.Asp2642His)
c.7888G>C (p.Asp2630His)
c.7840G>C (p.Asp2614His)
c.7798G>C (p.Asp2600His)
 COSMIC
8g.133133531G>TCA372253206TGc.8059G>T (p.Asp2687Tyr)
c.3425G>T
c.2458G>T (p.Asp820Tyr)
c.271G>T (p.Asp91Tyr)
n.145G>T
c.4714G>T
c.7867G>T (p.Asp2623Tyr)
c.7996G>T (p.Asp2666Tyr)
c.7993G>T (p.Asp2665Tyr)
c.7924G>T (p.Asp2642Tyr)
c.7888G>T (p.Asp2630Tyr)
c.7840G>T (p.Asp2614Tyr)
c.7798G>T (p.Asp2600Tyr)
8g.133133532A=CA1821104913TGc.8060A= (p.Asp2687=)
c.3426A=
c.2459A= (p.Asp820=)
c.272A= (p.Asp91=)
n.146A=
c.4715A=
c.7868A= (p.Asp2623=)
c.7997A= (p.Asp2666=)
c.7994A= (p.Asp2665=)
c.7925A= (p.Asp2642=)
c.7889A= (p.Asp2630=)
c.7841A= (p.Asp2614=)
c.7799A= (p.Asp2600=)
8g.133133532A>CCA372253214TGc.8060A>C (p.Asp2687Ala)
c.3426A>C
c.2459A>C (p.Asp820Ala)
c.272A>C (p.Asp91Ala)
n.146A>C
c.4715A>C
c.7868A>C (p.Asp2623Ala)
c.7997A>C (p.Asp2666Ala)
c.7994A>C (p.Asp2665Ala)
c.7925A>C (p.Asp2642Ala)
c.7889A>C (p.Asp2630Ala)
c.7841A>C (p.Asp2614Ala)
c.7799A>C (p.Asp2600Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.133133532A>GCA4885882TGc.8060A>G (p.Asp2687Gly)
c.3426A>G
c.2459A>G (p.Asp820Gly)
c.272A>G (p.Asp91Gly)
n.146A>G
c.4715A>G
c.7868A>G (p.Asp2623Gly)
c.7997A>G (p.Asp2666Gly)
c.7994A>G (p.Asp2665Gly)
c.7925A>G (p.Asp2642Gly)
c.7889A>G (p.Asp2630Gly)
c.7841A>G (p.Asp2614Gly)
c.7799A>G (p.Asp2600Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133532A>TCA372253212TGc.8060A>T (p.Asp2687Val)
c.3426A>T
c.2459A>T (p.Asp820Val)
c.272A>T (p.Asp91Val)
n.146A>T
c.4715A>T
c.7868A>T (p.Asp2623Val)
c.7997A>T (p.Asp2666Val)
c.7994A>T (p.Asp2665Val)
c.7925A>T (p.Asp2642Val)
c.7889A>T (p.Asp2630Val)
c.7841A>T (p.Asp2614Val)
c.7799A>T (p.Asp2600Val)
 COSMIC
8g.133133533C>ACA186356683TGc.8061C>A (p.Asp2687Glu)
c.3427C>A
c.2460C>A (p.Asp820Glu)
c.273C>A (p.Asp91Glu)
n.147C>A
c.4716C>A
c.7869C>A (p.Asp2623Glu)
c.7998C>A (p.Asp2666Glu)
c.7995C>A (p.Asp2665Glu)
c.7926C>A (p.Asp2642Glu)
c.7890C>A (p.Asp2630Glu)
c.7842C>A (p.Asp2614Glu)
c.7800C>A (p.Asp2600Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.133133533C=CA1821104914TGc.8061C= (p.Asp2687=)
c.3427C=
c.2460C= (p.Asp820=)
c.273C= (p.Asp91=)
n.147C=
c.4716C=
c.7869C= (p.Asp2623=)
c.7998C= (p.Asp2666=)
c.7995C= (p.Asp2665=)
c.7926C= (p.Asp2642=)
c.7890C= (p.Asp2630=)
c.7842C= (p.Asp2614=)
c.7800C= (p.Asp2600=)
8g.133133533C>GCA372253217TGc.8061C>G (p.Asp2687Glu)
c.3427C>G
c.2460C>G (p.Asp820Glu)
c.273C>G (p.Asp91Glu)
n.147C>G
c.4716C>G
c.7869C>G (p.Asp2623Glu)
c.7998C>G (p.Asp2666Glu)
c.7995C>G (p.Asp2665Glu)
c.7926C>G (p.Asp2642Glu)
c.7890C>G (p.Asp2630Glu)
c.7842C>G (p.Asp2614Glu)
c.7800C>G (p.Asp2600Glu)
8g.133133533C>TCA186356684TGc.8061C>T (p.Asp2687=)
c.3427C>T
c.2460C>T (p.Asp820=)
c.273C>T (p.Asp91=)
n.147C>T
c.4716C>T
c.7869C>T (p.Asp2623=)
c.7998C>T (p.Asp2666=)
c.7995C>T (p.Asp2665=)
c.7926C>T (p.Asp2642=)
c.7890C>T (p.Asp2630=)
c.7842C>T (p.Asp2614=)
c.7800C>T (p.Asp2600=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133534T>ACA372253221TGc.8062T>A (p.Phe2688Ile)
c.3428T>A
c.2461T>A (p.Phe821Ile)
c.274T>A (p.Phe92Ile)
n.148T>A
c.4717T>A
c.7870T>A (p.Phe2624Ile)
c.7999T>A (p.Phe2667Ile)
c.7996T>A (p.Phe2666Ile)
c.7927T>A (p.Phe2643Ile)
c.7891T>A (p.Phe2631Ile)
c.7843T>A (p.Phe2615Ile)
c.7801T>A (p.Phe2601Ile)
8g.133133534T>CCA372253222TGc.8062T>C (p.Phe2688Leu)
c.3428T>C
c.2461T>C (p.Phe821Leu)
c.274T>C (p.Phe92Leu)
n.148T>C
c.4717T>C
c.7870T>C (p.Phe2624Leu)
c.7999T>C (p.Phe2667Leu)
c.7996T>C (p.Phe2666Leu)
c.7927T>C (p.Phe2643Leu)
c.7891T>C (p.Phe2631Leu)
c.7843T>C (p.Phe2615Leu)
c.7801T>C (p.Phe2601Leu)
8g.133133534T>GCA372253224TGc.8062T>G (p.Phe2688Val)
c.3428T>G
c.2461T>G (p.Phe821Val)
c.274T>G (p.Phe92Val)
n.148T>G
c.4717T>G
c.7870T>G (p.Phe2624Val)
c.7999T>G (p.Phe2667Val)
c.7996T>G (p.Phe2666Val)
c.7927T>G (p.Phe2643Val)
c.7891T>G (p.Phe2631Val)
c.7843T>G (p.Phe2615Val)
c.7801T>G (p.Phe2601Val)
8g.133133535T>ACA372253227TGc.8063T>A (p.Phe2688Tyr)
c.3429T>A
c.2462T>A (p.Phe821Tyr)
c.275T>A (p.Phe92Tyr)
n.149T>A
c.4718T>A
c.7871T>A (p.Phe2624Tyr)
c.8000T>A (p.Phe2667Tyr)
c.7997T>A (p.Phe2666Tyr)
c.7928T>A (p.Phe2643Tyr)
c.7892T>A (p.Phe2631Tyr)
c.7844T>A (p.Phe2615Tyr)
c.7802T>A (p.Phe2601Tyr)
8g.133133535T>CCA372253228TGc.8063T>C (p.Phe2688Ser)
c.3429T>C
c.2462T>C (p.Phe821Ser)
c.275T>C (p.Phe92Ser)
n.149T>C
c.4718T>C
c.7871T>C (p.Phe2624Ser)
c.8000T>C (p.Phe2667Ser)
c.7997T>C (p.Phe2666Ser)
c.7928T>C (p.Phe2643Ser)
c.7892T>C (p.Phe2631Ser)
c.7844T>C (p.Phe2615Ser)
c.7802T>C (p.Phe2601Ser)
8g.133133535T>GCA372253230TGc.8063T>G (p.Phe2688Cys)
c.3429T>G
c.2462T>G (p.Phe821Cys)
c.275T>G (p.Phe92Cys)
n.149T>G
c.4718T>G
c.7871T>G (p.Phe2624Cys)
c.8000T>G (p.Phe2667Cys)
c.7997T>G (p.Phe2666Cys)
c.7928T>G (p.Phe2643Cys)
c.7892T>G (p.Phe2631Cys)
c.7844T>G (p.Phe2615Cys)
c.7802T>G (p.Phe2601Cys)
8g.133133536T>ACA372253232TGc.8064T>A (p.Phe2688Leu)
c.3430T>A
c.2463T>A (p.Phe821Leu)
c.276T>A (p.Phe92Leu)
n.150T>A
c.4719T>A
c.7872T>A (p.Phe2624Leu)
c.8001T>A (p.Phe2667Leu)
c.7998T>A (p.Phe2666Leu)
c.7929T>A (p.Phe2643Leu)
c.7893T>A (p.Phe2631Leu)
c.7845T>A (p.Phe2615Leu)
c.7803T>A (p.Phe2601Leu)
8g.133133536T>CCA463017097TGc.8064T>C (p.Phe2688=)
c.3430T>C
c.2463T>C (p.Phe821=)
c.276T>C (p.Phe92=)
n.150T>C
c.4719T>C
c.7872T>C (p.Phe2624=)
c.8001T>C (p.Phe2667=)
c.7998T>C (p.Phe2666=)
c.7929T>C (p.Phe2643=)
c.7893T>C (p.Phe2631=)
c.7845T>C (p.Phe2615=)
c.7803T>C (p.Phe2601=)
 dbSNP
8g.133133536T>GCA372253234TGc.8064T>G (p.Phe2688Leu)
c.3430T>G
c.2463T>G (p.Phe821Leu)
c.276T>G (p.Phe92Leu)
n.150T>G
c.4719T>G
c.7872T>G (p.Phe2624Leu)
c.8001T>G (p.Phe2667Leu)
c.7998T>G (p.Phe2666Leu)
c.7929T>G (p.Phe2643Leu)
c.7893T>G (p.Phe2631Leu)
c.7845T>G (p.Phe2615Leu)
c.7803T>G (p.Phe2601Leu)
8g.133133536T=CA1821104915TGc.8064T= (p.Phe2688=)
c.3430T=
c.2463T= (p.Phe821=)
c.276T= (p.Phe92=)
n.150T=
c.4719T=
c.7872T= (p.Phe2624=)
c.8001T= (p.Phe2667=)
c.7998T= (p.Phe2666=)
c.7929T= (p.Phe2643=)
c.7893T= (p.Phe2631=)
c.7845T= (p.Phe2615=)
c.7803T= (p.Phe2601=)
8g.133133537G>ACA372253236TGc.8065G>A (p.Val2689Ile)
c.3431G>A
c.2464G>A (p.Val822Ile)
c.277G>A (p.Val93Ile)
n.151G>A
c.4720G>A
c.7873G>A (p.Val2625Ile)
c.8002G>A (p.Val2668Ile)
c.7999G>A (p.Val2667Ile)
c.7930G>A (p.Val2644Ile)
c.7894G>A (p.Val2632Ile)
c.7846G>A (p.Val2616Ile)
c.7804G>A (p.Val2602Ile)
 gnomAD v4
8g.133133537G>CCA4885883TGc.8065G>C (p.Val2689Leu)
c.3431G>C
c.2464G>C (p.Val822Leu)
c.277G>C (p.Val93Leu)
n.151G>C
c.4720G>C
c.7873G>C (p.Val2625Leu)
c.8002G>C (p.Val2668Leu)
c.7999G>C (p.Val2667Leu)
c.7930G>C (p.Val2644Leu)
c.7894G>C (p.Val2632Leu)
c.7846G>C (p.Val2616Leu)
c.7804G>C (p.Val2602Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133537G=CA1821104916TGc.8065G= (p.Val2689=)
c.3431G=
c.2464G= (p.Val822=)
c.277G= (p.Val93=)
n.151G=
c.4720G=
c.7873G= (p.Val2625=)
c.8002G= (p.Val2668=)
c.7999G= (p.Val2667=)
c.7930G= (p.Val2644=)
c.7894G= (p.Val2632=)
c.7846G= (p.Val2616=)
c.7804G= (p.Val2602=)
8g.133133537G>TCA372253237TGc.8065G>T (p.Val2689Leu)
c.3431G>T
c.2464G>T (p.Val822Leu)
c.277G>T (p.Val93Leu)
n.151G>T
c.4720G>T
c.7873G>T (p.Val2625Leu)
c.8002G>T (p.Val2668Leu)
c.7999G>T (p.Val2667Leu)
c.7930G>T (p.Val2644Leu)
c.7894G>T (p.Val2632Leu)
c.7846G>T (p.Val2616Leu)
c.7804G>T (p.Val2602Leu)
 dbSNP gnomAD v4
8g.133133538T>ACA372253241TGc.8066T>A (p.Val2689Glu)
c.3432T>A
c.2465T>A (p.Val822Glu)
c.278T>A (p.Val93Glu)
n.152T>A
c.4721T>A
c.7874T>A (p.Val2625Glu)
c.8003T>A (p.Val2668Glu)
c.8000T>A (p.Val2667Glu)
c.7931T>A (p.Val2644Glu)
c.7895T>A (p.Val2632Glu)
c.7847T>A (p.Val2616Glu)
c.7805T>A (p.Val2602Glu)
8g.133133538T>CCA372253242TGc.8066T>C (p.Val2689Ala)
c.3432T>C
c.2465T>C (p.Val822Ala)
c.278T>C (p.Val93Ala)
n.152T>C
c.4721T>C
c.7874T>C (p.Val2625Ala)
c.8003T>C (p.Val2668Ala)
c.8000T>C (p.Val2667Ala)
c.7931T>C (p.Val2644Ala)
c.7895T>C (p.Val2632Ala)
c.7847T>C (p.Val2616Ala)
c.7805T>C (p.Val2602Ala)
8g.133133538T>GCA372253244TGc.8066T>G (p.Val2689Gly)
c.3432T>G
c.2465T>G (p.Val822Gly)
c.278T>G (p.Val93Gly)
n.152T>G
c.4721T>G
c.7874T>G (p.Val2625Gly)
c.8003T>G (p.Val2668Gly)
c.8000T>G (p.Val2667Gly)
c.7931T>G (p.Val2644Gly)
c.7895T>G (p.Val2632Gly)
c.7847T>G (p.Val2616Gly)
c.7805T>G (p.Val2602Gly)
8g.133133539A=CA1821104918TGc.8067A= (p.Val2689=)
c.3433A=
c.2466A= (p.Val822=)
c.279A= (p.Val93=)
n.153A=
c.4722A=
c.7875A= (p.Val2625=)
c.8004A= (p.Val2668=)
c.8001A= (p.Val2667=)
c.7932A= (p.Val2644=)
c.7896A= (p.Val2632=)
c.7848A= (p.Val2616=)
c.7806A= (p.Val2602=)
8g.133133539A>CCA463017106TGc.8067A>C (p.Val2689=)
c.3433A>C
c.2466A>C (p.Val822=)
c.279A>C (p.Val93=)
n.153A>C
c.4722A>C
c.7875A>C (p.Val2625=)
c.8004A>C (p.Val2668=)
c.8001A>C (p.Val2667=)
c.7932A>C (p.Val2644=)
c.7896A>C (p.Val2632=)
c.7848A>C (p.Val2616=)
c.7806A>C (p.Val2602=)
8g.133133539A>GCA463017105TGc.8067A>G (p.Val2689=)
c.3433A>G
c.2466A>G (p.Val822=)
c.279A>G (p.Val93=)
n.153A>G
c.4722A>G
c.7875A>G (p.Val2625=)
c.8004A>G (p.Val2668=)
c.8001A>G (p.Val2667=)
c.7932A>G (p.Val2644=)
c.7896A>G (p.Val2632=)
c.7848A>G (p.Val2616=)
c.7806A>G (p.Val2602=)
 dbSNP gnomAD v4
8g.133133539A>TCA463017104TGc.8067A>T (p.Val2689=)
c.3433A>T
c.2466A>T (p.Val822=)
c.279A>T (p.Val93=)
n.153A>T
c.4722A>T
c.7875A>T (p.Val2625=)
c.8004A>T (p.Val2668=)
c.8001A>T (p.Val2667=)
c.7932A>T (p.Val2644=)
c.7896A>T (p.Val2632=)
c.7848A>T (p.Val2616=)
c.7806A>T (p.Val2602=)
8g.133133539_133133540delinsACCA1821104917TGc.8067_8068delinsAC (p.Val2689=)
c.3433_3434delinsAC
c.2466_2467delinsAC (p.Val822=)
c.279_280delinsAC (p.Val93=)
n.153_154delinsAC
c.4722_4723delinsAC
c.7875_7876delinsAC (p.Val2625=)
c.8004_8005delinsAC (p.Val2668=)
c.8001_8002delinsAC (p.Val2667=)
c.7932_7933delinsAC (p.Val2644=)
c.7896_7897delinsAC (p.Val2632=)
c.7848_7849delinsAC (p.Val2616=)
c.7806_7807delinsAC (p.Val2602=)
8g.133133540C>ACA372253246TGc.8068C>A (p.Pro2690Thr)
c.3434C>A
c.2467C>A (p.Pro823Thr)
c.280C>A (p.Pro94Thr)
n.154C>A
c.4723C>A
c.7876C>A (p.Pro2626Thr)
c.8005C>A (p.Pro2669Thr)
c.8002C>A (p.Pro2668Thr)
c.7933C>A (p.Pro2645Thr)
c.7897C>A (p.Pro2633Thr)
c.7849C>A (p.Pro2617Thr)
c.7807C>A (p.Pro2603Thr)
 gnomAD v4
8g.133133540C>GCA372253248TGc.8068C>G (p.Pro2690Ala)
c.3434C>G
c.2467C>G (p.Pro823Ala)
c.280C>G (p.Pro94Ala)
n.154C>G
c.4723C>G
c.7876C>G (p.Pro2626Ala)
c.8005C>G (p.Pro2669Ala)
c.8002C>G (p.Pro2668Ala)
c.7933C>G (p.Pro2645Ala)
c.7897C>G (p.Pro2633Ala)
c.7849C>G (p.Pro2617Ala)
c.7807C>G (p.Pro2603Ala)
8g.133133540C>TCA372253250TGc.8068C>T (p.Pro2690Ser)
c.3434C>T
c.2467C>T (p.Pro823Ser)
c.280C>T (p.Pro94Ser)
n.154C>T
c.4723C>T
c.7876C>T (p.Pro2626Ser)
c.8005C>T (p.Pro2669Ser)
c.8002C>T (p.Pro2668Ser)
c.7933C>T (p.Pro2645Ser)
c.7897C>T (p.Pro2633Ser)
c.7849C>T (p.Pro2617Ser)
c.7807C>T (p.Pro2603Ser)
8g.133133543delCA4885884TGc.8071del (p.Arg2691ValfsTer20)
c.3437del
c.2470del (p.Arg824ValfsTer20)
c.283del (p.Arg95ValfsTer20)
n.157del
c.4726del
c.7879del (p.Arg2627ValfsTer20)
c.8008del (p.Arg2670ValfsTer20)
c.8005del (p.Arg2669ValfsTer20)
c.7936del (p.Arg2646ValfsTer20)
c.7900del (p.Arg2634ValfsTer20)
c.7852del (p.Arg2618ValfsTer20)
c.7810del (p.Arg2604ValfsTer20)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133541C>ACA372253252TGc.8069C>A (p.Pro2690His)
c.3435C>A
c.2468C>A (p.Pro823His)
c.281C>A (p.Pro94His)
n.155C>A
c.4724C>A
c.7877C>A (p.Pro2626His)
c.8006C>A (p.Pro2669His)
c.8003C>A (p.Pro2668His)
c.7934C>A (p.Pro2645His)
c.7898C>A (p.Pro2633His)
c.7850C>A (p.Pro2617His)
c.7808C>A (p.Pro2603His)
 gnomAD v4
8g.133133541C=CA1821104919TGc.8069C= (p.Pro2690=)
c.3435C=
c.2468C= (p.Pro823=)
c.281C= (p.Pro94=)
n.155C=
c.4724C=
c.7877C= (p.Pro2626=)
c.8006C= (p.Pro2669=)
c.8003C= (p.Pro2668=)
c.7934C= (p.Pro2645=)
c.7898C= (p.Pro2633=)
c.7850C= (p.Pro2617=)
c.7808C= (p.Pro2603=)
8g.133133541C>GCA186356686TGc.8069C>G (p.Pro2690Arg)
c.3435C>G
c.2468C>G (p.Pro823Arg)
c.281C>G (p.Pro94Arg)
n.155C>G
c.4724C>G
c.7877C>G (p.Pro2626Arg)
c.8006C>G (p.Pro2669Arg)
c.8003C>G (p.Pro2668Arg)
c.7934C>G (p.Pro2645Arg)
c.7898C>G (p.Pro2633Arg)
c.7850C>G (p.Pro2617Arg)
c.7808C>G (p.Pro2603Arg)
 dbSNP gnomAD v4
8g.133133541C>TCA372253254TGc.8069C>T (p.Pro2690Leu)
c.3435C>T
c.2468C>T (p.Pro823Leu)
c.281C>T (p.Pro94Leu)
n.155C>T
c.4724C>T
c.7877C>T (p.Pro2626Leu)
c.8006C>T (p.Pro2669Leu)
c.8003C>T (p.Pro2668Leu)
c.7934C>T (p.Pro2645Leu)
c.7898C>T (p.Pro2633Leu)
c.7850C>T (p.Pro2617Leu)
c.7808C>T (p.Pro2603Leu)
8g.133133541_133133542delinsTTCA645557842TGc.8069_8070delinsTT (p.Pro2690Leu)
c.3435_3436delinsTT
c.2468_2469delinsTT (p.Pro823Leu)
c.281_282delinsTT (p.Pro94Leu)
n.155_156delinsTT
c.4724_4725delinsTT
c.7877_7878delinsTT (p.Pro2626Leu)
c.8006_8007delinsTT (p.Pro2669Leu)
c.8003_8004delinsTT (p.Pro2668Leu)
c.7934_7935delinsTT (p.Pro2645Leu)
c.7898_7899delinsTT (p.Pro2633Leu)
c.7850_7851delinsTT (p.Pro2617Leu)
c.7808_7809delinsTT (p.Pro2603Leu)
 COSMIC
8g.133133542C>ACA463017113TGc.8070C>A (p.Pro2690=)
c.3436C>A
c.2469C>A (p.Pro823=)
c.282C>A (p.Pro94=)
n.156C>A
c.4725C>A
c.7878C>A (p.Pro2626=)
c.8007C>A (p.Pro2669=)
c.8004C>A (p.Pro2668=)
c.7935C>A (p.Pro2645=)
c.7899C>A (p.Pro2633=)
c.7851C>A (p.Pro2617=)
c.7809C>A (p.Pro2603=)
8g.133133542C=CA1821104920TGc.8070C= (p.Pro2690=)
c.3436C=
c.2469C= (p.Pro823=)
c.282C= (p.Pro94=)
n.156C=
c.4725C=
c.7878C= (p.Pro2626=)
c.8007C= (p.Pro2669=)
c.8004C= (p.Pro2668=)
c.7935C= (p.Pro2645=)
c.7899C= (p.Pro2633=)
c.7851C= (p.Pro2617=)
c.7809C= (p.Pro2603=)
8g.133133542C>GCA4885885TGc.8070C>G (p.Pro2690=)
c.3436C>G
c.2469C>G (p.Pro823=)
c.282C>G (p.Pro94=)
n.156C>G
c.4725C>G
c.7878C>G (p.Pro2626=)
c.8007C>G (p.Pro2669=)
c.8004C>G (p.Pro2668=)
c.7935C>G (p.Pro2645=)
c.7899C>G (p.Pro2633=)
c.7851C>G (p.Pro2617=)
c.7809C>G (p.Pro2603=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133542C>TCA463017114TGc.8070C>T (p.Pro2690=)
c.3436C>T
c.2469C>T (p.Pro823=)
c.282C>T (p.Pro94=)
n.156C>T
c.4725C>T
c.7878C>T (p.Pro2626=)
c.8007C>T (p.Pro2669=)
c.8004C>T (p.Pro2668=)
c.7935C>T (p.Pro2645=)
c.7899C>T (p.Pro2633=)
c.7851C>T (p.Pro2617=)
c.7809C>T (p.Pro2603=)
 COSMIC
8g.133133543C>ACA372253257TGc.8071C>A (p.Arg2691Ser)
c.3437C>A
c.2470C>A (p.Arg824Ser)
c.283C>A (p.Arg95Ser)
n.157C>A
c.4726C>A
c.7879C>A (p.Arg2627Ser)
c.8008C>A (p.Arg2670Ser)
c.8005C>A (p.Arg2669Ser)
c.7936C>A (p.Arg2646Ser)
c.7900C>A (p.Arg2634Ser)
c.7852C>A (p.Arg2618Ser)
c.7810C>A (p.Arg2604Ser)
8g.133133543C=CA1821104921TGc.8071C= (p.Arg2691=)
c.3437C=
c.2470C= (p.Arg824=)
c.283C= (p.Arg95=)
n.157C=
c.4726C=
c.7879C= (p.Arg2627=)
c.8008C= (p.Arg2670=)
c.8005C= (p.Arg2669=)
c.7936C= (p.Arg2646=)
c.7900C= (p.Arg2634=)
c.7852C= (p.Arg2618=)
c.7810C= (p.Arg2604=)
8g.133133543C>GCA372253258TGc.8071C>G (p.Arg2691Gly)
c.3437C>G
c.2470C>G (p.Arg824Gly)
c.283C>G (p.Arg95Gly)
n.157C>G
c.4726C>G
c.7879C>G (p.Arg2627Gly)
c.8008C>G (p.Arg2670Gly)
c.8005C>G (p.Arg2669Gly)
c.7936C>G (p.Arg2646Gly)
c.7900C>G (p.Arg2634Gly)
c.7852C>G (p.Arg2618Gly)
c.7810C>G (p.Arg2604Gly)
 gnomAD v4
8g.133133543C>TCA4885886TGc.8071C>T (p.Arg2691Cys)
c.3437C>T
c.2470C>T (p.Arg824Cys)
c.283C>T (p.Arg95Cys)
n.157C>T
c.4726C>T
c.7879C>T (p.Arg2627Cys)
c.8008C>T (p.Arg2670Cys)
c.8005C>T (p.Arg2669Cys)
c.7936C>T (p.Arg2646Cys)
c.7900C>T (p.Arg2634Cys)
c.7852C>T (p.Arg2618Cys)
c.7810C>T (p.Arg2604Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133544G>ACA4885887TGc.8072G>A (p.Arg2691His)
c.3438G>A
c.2471G>A (p.Arg824His)
c.284G>A (p.Arg95His)
n.158G>A
c.4727G>A
c.7880G>A (p.Arg2627His)
c.8009G>A (p.Arg2670His)
c.8006G>A (p.Arg2669His)
c.7937G>A (p.Arg2646His)
c.7901G>A (p.Arg2634His)
c.7853G>A (p.Arg2618His)
c.7811G>A (p.Arg2604His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133544G>CCA372253261TGc.8072G>C (p.Arg2691Pro)
c.3438G>C
c.2471G>C (p.Arg824Pro)
c.284G>C (p.Arg95Pro)
n.158G>C
c.4727G>C
c.7880G>C (p.Arg2627Pro)
c.8009G>C (p.Arg2670Pro)
c.8006G>C (p.Arg2669Pro)
c.7937G>C (p.Arg2646Pro)
c.7901G>C (p.Arg2634Pro)
c.7853G>C (p.Arg2618Pro)
c.7811G>C (p.Arg2604Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.133133544G=CA1821104922TGc.8072G= (p.Arg2691=)
c.3438G=
c.2471G= (p.Arg824=)
c.284G= (p.Arg95=)
n.158G=
c.4727G=
c.7880G= (p.Arg2627=)
c.8009G= (p.Arg2670=)
c.8006G= (p.Arg2669=)
c.7937G= (p.Arg2646=)
c.7901G= (p.Arg2634=)
c.7853G= (p.Arg2618=)
c.7811G= (p.Arg2604=)
8g.133133544G>TCA372253263TGc.8072G>T (p.Arg2691Leu)
c.3438G>T
c.2471G>T (p.Arg824Leu)
c.284G>T (p.Arg95Leu)
n.158G>T
c.4727G>T
c.7880G>T (p.Arg2627Leu)
c.8009G>T (p.Arg2670Leu)
c.8006G>T (p.Arg2669Leu)
c.7937G>T (p.Arg2646Leu)
c.7901G>T (p.Arg2634Leu)
c.7853G>T (p.Arg2618Leu)
c.7811G>T (p.Arg2604Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133545T>ACA463017120TGc.8073T>A (p.Arg2691=)
c.3439T>A
c.2472T>A (p.Arg824=)
c.285T>A (p.Arg95=)
n.159T>A
c.4728T>A
c.7881T>A (p.Arg2627=)
c.8010T>A (p.Arg2670=)
c.8007T>A (p.Arg2669=)
c.7938T>A (p.Arg2646=)
c.7902T>A (p.Arg2634=)
c.7854T>A (p.Arg2618=)
c.7812T>A (p.Arg2604=)
8g.133133545T>CCA463017121TGc.8073T>C (p.Arg2691=)
c.3439T>C
c.2472T>C (p.Arg824=)
c.285T>C (p.Arg95=)
n.159T>C
c.4728T>C
c.7881T>C (p.Arg2627=)
c.8010T>C (p.Arg2670=)
c.8007T>C (p.Arg2669=)
c.7938T>C (p.Arg2646=)
c.7902T>C (p.Arg2634=)
c.7854T>C (p.Arg2618=)
c.7812T>C (p.Arg2604=)
 ClinVar gnomAD v4
8g.133133545T>GCA463017122TGc.8073T>G (p.Arg2691=)
c.3439T>G
c.2472T>G (p.Arg824=)
c.285T>G (p.Arg95=)
n.159T>G
c.4728T>G
c.7881T>G (p.Arg2627=)
c.8010T>G (p.Arg2670=)
c.8007T>G (p.Arg2669=)
c.7938T>G (p.Arg2646=)
c.7902T>G (p.Arg2634=)
c.7854T>G (p.Arg2618=)
c.7812T>G (p.Arg2604=)
8g.133133546G>ACA372253265TGc.8074G>A (p.Ala2692Thr)
c.3440G>A
c.2473G>A (p.Ala825Thr)
c.286G>A (p.Ala96Thr)
n.160G>A
c.4729G>A
c.7882G>A (p.Ala2628Thr)
c.8011G>A (p.Ala2671Thr)
c.8008G>A (p.Ala2670Thr)
c.7939G>A (p.Ala2647Thr)
c.7903G>A (p.Ala2635Thr)
c.7855G>A (p.Ala2619Thr)
c.7813G>A (p.Ala2605Thr)
8g.133133546G>CCA372253266TGc.8074G>C (p.Ala2692Pro)
c.3440G>C
c.2473G>C (p.Ala825Pro)
c.286G>C (p.Ala96Pro)
n.160G>C
c.4729G>C
c.7882G>C (p.Ala2628Pro)
c.8011G>C (p.Ala2671Pro)
c.8008G>C (p.Ala2670Pro)
c.7939G>C (p.Ala2647Pro)
c.7903G>C (p.Ala2635Pro)
c.7855G>C (p.Ala2619Pro)
c.7813G>C (p.Ala2605Pro)
8g.133133546G>TCA372253268TGc.8074G>T (p.Ala2692Ser)
c.3440G>T
c.2473G>T (p.Ala825Ser)
c.286G>T (p.Ala96Ser)
n.160G>T
c.4729G>T
c.7882G>T (p.Ala2628Ser)
c.8011G>T (p.Ala2671Ser)
c.8008G>T (p.Ala2670Ser)
c.7939G>T (p.Ala2647Ser)
c.7903G>T (p.Ala2635Ser)
c.7855G>T (p.Ala2619Ser)
c.7813G>T (p.Ala2605Ser)
8g.133133547C>ACA372253270TGc.8075C>A (p.Ala2692Asp)
c.3441C>A
c.2474C>A (p.Ala825Asp)
c.287C>A (p.Ala96Asp)
n.161C>A
c.4730C>A
c.7883C>A (p.Ala2628Asp)
c.8012C>A (p.Ala2671Asp)
c.8009C>A (p.Ala2670Asp)
c.7940C>A (p.Ala2647Asp)
c.7904C>A (p.Ala2635Asp)
c.7856C>A (p.Ala2619Asp)
c.7814C>A (p.Ala2605Asp)
 COSMIC
8g.133133547C=CA1821104923TGc.8075C= (p.Ala2692=)
c.3441C=
c.2474C= (p.Ala825=)
c.287C= (p.Ala96=)
n.161C=
c.4730C=
c.7883C= (p.Ala2628=)
c.8012C= (p.Ala2671=)
c.8009C= (p.Ala2670=)
c.7940C= (p.Ala2647=)
c.7904C= (p.Ala2635=)
c.7856C= (p.Ala2619=)
c.7814C= (p.Ala2605=)
8g.133133547C>GCA372253271TGc.8075C>G (p.Ala2692Gly)
c.3441C>G
c.2474C>G (p.Ala825Gly)
c.287C>G (p.Ala96Gly)
n.161C>G
c.4730C>G
c.7883C>G (p.Ala2628Gly)
c.8012C>G (p.Ala2671Gly)
c.8009C>G (p.Ala2670Gly)
c.7940C>G (p.Ala2647Gly)
c.7904C>G (p.Ala2635Gly)
c.7856C>G (p.Ala2619Gly)
c.7814C>G (p.Ala2605Gly)
8g.133133547C>TCA4885888TGc.8075C>T (p.Ala2692Val)
c.3441C>T
c.2474C>T (p.Ala825Val)
c.287C>T (p.Ala96Val)
n.161C>T
c.4730C>T
c.7883C>T (p.Ala2628Val)
c.8012C>T (p.Ala2671Val)
c.8009C>T (p.Ala2670Val)
c.7940C>T (p.Ala2647Val)
c.7904C>T (p.Ala2635Val)
c.7856C>T (p.Ala2619Val)
c.7814C>T (p.Ala2605Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133548T>ACA463017125TGc.8076T>A (p.Ala2692=)
c.3442T>A
c.2475T>A (p.Ala825=)
c.288T>A (p.Ala96=)
n.162T>A
c.4731T>A
c.7884T>A (p.Ala2628=)
c.8013T>A (p.Ala2671=)
c.8010T>A (p.Ala2670=)
c.7941T>A (p.Ala2647=)
c.7905T>A (p.Ala2635=)
c.7857T>A (p.Ala2619=)
c.7815T>A (p.Ala2605=)
8g.133133548T>CCA463017127TGc.8076T>C (p.Ala2692=)
c.3442T>C
c.2475T>C (p.Ala825=)
c.288T>C (p.Ala96=)
n.162T>C
c.4731T>C
c.7884T>C (p.Ala2628=)
c.8013T>C (p.Ala2671=)
c.8010T>C (p.Ala2670=)
c.7941T>C (p.Ala2647=)
c.7905T>C (p.Ala2635=)
c.7857T>C (p.Ala2619=)
c.7815T>C (p.Ala2605=)
 dbSNP
8g.133133548T>GCA463017128TGc.8076T>G (p.Ala2692=)
c.3442T>G
c.2475T>G (p.Ala825=)
c.288T>G (p.Ala96=)
n.162T>G
c.4731T>G
c.7884T>G (p.Ala2628=)
c.8013T>G (p.Ala2671=)
c.8010T>G (p.Ala2670=)
c.7941T>G (p.Ala2647=)
c.7905T>G (p.Ala2635=)
c.7857T>G (p.Ala2619=)
c.7815T>G (p.Ala2605=)
8g.133133548T=CA1821104924TGc.8076T= (p.Ala2692=)
c.3442T=
c.2475T= (p.Ala825=)
c.288T= (p.Ala96=)
n.162T=
c.4731T=
c.7884T= (p.Ala2628=)
c.8013T= (p.Ala2671=)
c.8010T= (p.Ala2670=)
c.7941T= (p.Ala2647=)
c.7905T= (p.Ala2635=)
c.7857T= (p.Ala2619=)
c.7815T= (p.Ala2605=)
8g.133133549G>ACA372253274TGc.8077G>A (p.Gly2693Ser)
c.3443G>A
c.2476G>A (p.Gly826Ser)
c.289G>A (p.Gly97Ser)
n.163G>A
c.4732G>A
c.7885G>A (p.Gly2629Ser)
c.8014G>A (p.Gly2672Ser)
c.8011G>A (p.Gly2671Ser)
c.7942G>A (p.Gly2648Ser)
c.7906G>A (p.Gly2636Ser)
c.7858G>A (p.Gly2620Ser)
c.7816G>A (p.Gly2606Ser)
8g.133133549G>CCA186356709TGc.8077G>C (p.Gly2693Arg)
c.3443G>C
c.2476G>C (p.Gly826Arg)
c.289G>C (p.Gly97Arg)
n.163G>C
c.4732G>C
c.7885G>C (p.Gly2629Arg)
c.8014G>C (p.Gly2672Arg)
c.8011G>C (p.Gly2671Arg)
c.7942G>C (p.Gly2648Arg)
c.7906G>C (p.Gly2636Arg)
c.7858G>C (p.Gly2620Arg)
c.7816G>C (p.Gly2606Arg)
 dbSNP
8g.133133549G=CA1821104925TGc.8077G= (p.Gly2693=)
c.3443G=
c.2476G= (p.Gly826=)
c.289G= (p.Gly97=)
n.163G=
c.4732G=
c.7885G= (p.Gly2629=)
c.8014G= (p.Gly2672=)
c.8011G= (p.Gly2671=)
c.7942G= (p.Gly2648=)
c.7906G= (p.Gly2636=)
c.7858G= (p.Gly2620=)
c.7816G= (p.Gly2606=)
8g.133133549G>TCA372253277TGc.8077G>T (p.Gly2693Cys)
c.3443G>T
c.2476G>T (p.Gly826Cys)
c.289G>T (p.Gly97Cys)
n.163G>T
c.4732G>T
c.7885G>T (p.Gly2629Cys)
c.8014G>T (p.Gly2672Cys)
c.8011G>T (p.Gly2671Cys)
c.7942G>T (p.Gly2648Cys)
c.7906G>T (p.Gly2636Cys)
c.7858G>T (p.Gly2620Cys)
c.7816G>T (p.Gly2606Cys)
8g.133133550G>ACA372253281TGc.8078G>A (p.Gly2693Asp)
c.3444G>A
c.2477G>A (p.Gly826Asp)
c.290G>A (p.Gly97Asp)
n.164G>A
c.4733G>A
c.7886G>A (p.Gly2629Asp)
c.8015G>A (p.Gly2672Asp)
c.8012G>A (p.Gly2671Asp)
c.7943G>A (p.Gly2648Asp)
c.7907G>A (p.Gly2636Asp)
c.7859G>A (p.Gly2620Asp)
c.7817G>A (p.Gly2606Asp)
 gnomAD v4
8g.133133550G>CCA372253282TGc.8078G>C (p.Gly2693Ala)
c.3444G>C
c.2477G>C (p.Gly826Ala)
c.290G>C (p.Gly97Ala)
n.164G>C
c.4733G>C
c.7886G>C (p.Gly2629Ala)
c.8015G>C (p.Gly2672Ala)
c.8012G>C (p.Gly2671Ala)
c.7943G>C (p.Gly2648Ala)
c.7907G>C (p.Gly2636Ala)
c.7859G>C (p.Gly2620Ala)
c.7817G>C (p.Gly2606Ala)
8g.133133550G>TCA372253279TGc.8078G>T (p.Gly2693Val)
c.3444G>T
c.2477G>T (p.Gly826Val)
c.290G>T (p.Gly97Val)
n.164G>T
c.4733G>T
c.7886G>T (p.Gly2629Val)
c.8015G>T (p.Gly2672Val)
c.8012G>T (p.Gly2671Val)
c.7943G>T (p.Gly2648Val)
c.7907G>T (p.Gly2636Val)
c.7859G>T (p.Gly2620Val)
c.7817G>T (p.Gly2606Val)
8g.133133551T>ACA463017132TGc.8079T>A (p.Gly2693=)
c.3445T>A
c.2478T>A (p.Gly826=)
c.291T>A (p.Gly97=)
n.165T>A
c.4734T>A
c.7887T>A (p.Gly2629=)
c.8016T>A (p.Gly2672=)
c.8013T>A (p.Gly2671=)
c.7944T>A (p.Gly2648=)
c.7908T>A (p.Gly2636=)
c.7860T>A (p.Gly2620=)
c.7818T>A (p.Gly2606=)
8g.133133551T>CCA463017135TGc.8079T>C (p.Gly2693=)
c.3445T>C
c.2478T>C (p.Gly826=)
c.291T>C (p.Gly97=)
n.165T>C
c.4734T>C
c.7887T>C (p.Gly2629=)
c.8016T>C (p.Gly2672=)
c.8013T>C (p.Gly2671=)
c.7944T>C (p.Gly2648=)
c.7908T>C (p.Gly2636=)
c.7860T>C (p.Gly2620=)
c.7818T>C (p.Gly2606=)
8g.133133551T>GCA463017134TGc.8079T>G (p.Gly2693=)
c.3445T>G
c.2478T>G (p.Gly826=)
c.291T>G (p.Gly97=)
n.165T>G
c.4734T>G
c.7887T>G (p.Gly2629=)
c.8016T>G (p.Gly2672=)
c.8013T>G (p.Gly2671=)
c.7944T>G (p.Gly2648=)
c.7908T>G (p.Gly2636=)
c.7860T>G (p.Gly2620=)
c.7818T>G (p.Gly2606=)
8g.133133552G>ACA4885889TGc.8080G>A (p.Gly2694Arg)
c.3446G>A
c.2479G>A (p.Gly827Arg)
c.292G>A (p.Gly98Arg)
n.166G>A
c.4735G>A
c.7888G>A (p.Gly2630Arg)
c.8017G>A (p.Gly2673Arg)
c.8014G>A (p.Gly2672Arg)
c.7945G>A (p.Gly2649Arg)
c.7909G>A (p.Gly2637Arg)
c.7861G>A (p.Gly2621Arg)
c.7819G>A (p.Gly2607Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133552G>CCA372253285TGc.8080G>C (p.Gly2694Arg)
c.3446G>C
c.2479G>C (p.Gly827Arg)
c.292G>C (p.Gly98Arg)
n.166G>C
c.4735G>C
c.7888G>C (p.Gly2630Arg)
c.8017G>C (p.Gly2673Arg)
c.8014G>C (p.Gly2672Arg)
c.7945G>C (p.Gly2649Arg)
c.7909G>C (p.Gly2637Arg)
c.7861G>C (p.Gly2621Arg)
c.7819G>C (p.Gly2607Arg)
 gnomAD v4
8g.133133552G=CA1821104926TGc.8080G= (p.Gly2694=)
c.3446G=
c.2479G= (p.Gly827=)
c.292G= (p.Gly98=)
n.166G=
c.4735G=
c.7888G= (p.Gly2630=)
c.8017G= (p.Gly2673=)
c.8014G= (p.Gly2672=)
c.7945G= (p.Gly2649=)
c.7909G= (p.Gly2637=)
c.7861G= (p.Gly2621=)
c.7819G= (p.Gly2607=)
8g.133133552G>TCA372253287TGc.8080G>T (p.Gly2694Ter)
c.3446G>T
c.2479G>T (p.Gly827Ter)
c.292G>T (p.Gly98Ter)
n.166G>T
c.4735G>T
c.7888G>T (p.Gly2630Ter)
c.8017G>T (p.Gly2673Ter)
c.8014G>T (p.Gly2672Ter)
c.7945G>T (p.Gly2649Ter)
c.7909G>T (p.Gly2637Ter)
c.7861G>T (p.Gly2621Ter)
c.7819G>T (p.Gly2607Ter)
8g.133133553G>ACA372253289TGc.8081G>A (p.Gly2694Glu)
c.3447G>A
c.2480G>A (p.Gly827Glu)
c.293G>A (p.Gly98Glu)
n.167G>A
c.4736G>A
c.7889G>A (p.Gly2630Glu)
c.8018G>A (p.Gly2673Glu)
c.8015G>A (p.Gly2672Glu)
c.7946G>A (p.Gly2649Glu)
c.7910G>A (p.Gly2637Glu)
c.7862G>A (p.Gly2621Glu)
c.7820G>A (p.Gly2607Glu)
8g.133133553G>CCA372253291TGc.8081G>C (p.Gly2694Ala)
c.3447G>C
c.2480G>C (p.Gly827Ala)
c.293G>C (p.Gly98Ala)
n.167G>C
c.4736G>C
c.7889G>C (p.Gly2630Ala)
c.8018G>C (p.Gly2673Ala)
c.8015G>C (p.Gly2672Ala)
c.7946G>C (p.Gly2649Ala)
c.7910G>C (p.Gly2637Ala)
c.7862G>C (p.Gly2621Ala)
c.7820G>C (p.Gly2607Ala)
8g.133133553G>TCA372253293TGc.8081G>T (p.Gly2694Val)
c.3447G>T
c.2480G>T (p.Gly827Val)
c.293G>T (p.Gly98Val)
n.167G>T
c.4736G>T
c.7889G>T (p.Gly2630Val)
c.8018G>T (p.Gly2673Val)
c.8015G>T (p.Gly2672Val)
c.7946G>T (p.Gly2649Val)
c.7910G>T (p.Gly2637Val)
c.7862G>T (p.Gly2621Val)
c.7820G>T (p.Gly2607Val)
8g.133133554A>CCA463017140TGc.8082A>C (p.Gly2694=)
c.3448A>C
c.2481A>C (p.Gly827=)
c.294A>C (p.Gly98=)
n.168A>C
c.4737A>C
c.7890A>C (p.Gly2630=)
c.8019A>C (p.Gly2673=)
c.8016A>C (p.Gly2672=)
c.7947A>C (p.Gly2649=)
c.7911A>C (p.Gly2637=)
c.7863A>C (p.Gly2621=)
c.7821A>C (p.Gly2607=)
8g.133133554A>GCA463017138TGc.8082A>G (p.Gly2694=)
c.3448A>G
c.2481A>G (p.Gly827=)
c.294A>G (p.Gly98=)
n.168A>G
c.4737A>G
c.7890A>G (p.Gly2630=)
c.8019A>G (p.Gly2673=)
c.8016A>G (p.Gly2672=)
c.7947A>G (p.Gly2649=)
c.7911A>G (p.Gly2637=)
c.7863A>G (p.Gly2621=)
c.7821A>G (p.Gly2607=)
8g.133133554A>TCA463017136TGc.8082A>T (p.Gly2694=)
c.3448A>T
c.2481A>T (p.Gly827=)
c.294A>T (p.Gly98=)
n.168A>T
c.4737A>T
c.7890A>T (p.Gly2630=)
c.8019A>T (p.Gly2673=)
c.8016A>T (p.Gly2672=)
c.7947A>T (p.Gly2649=)
c.7911A>T (p.Gly2637=)
c.7863A>T (p.Gly2621=)
c.7821A>T (p.Gly2607=)
8g.133133555G>ACA186356725TGc.8083G>A (p.Glu2695Lys)
c.3449G>A
c.2482G>A (p.Glu828Lys)
c.295G>A (p.Glu99Lys)
n.169G>A
c.4738G>A
c.7891G>A (p.Glu2631Lys)
c.8020G>A (p.Glu2674Lys)
c.8017G>A (p.Glu2673Lys)
c.7948G>A (p.Glu2650Lys)
c.7912G>A (p.Glu2638Lys)
c.7864G>A (p.Glu2622Lys)
c.7822G>A (p.Glu2608Lys)
 dbSNP gnomAD v4
8g.133133555G>CCA372253295TGc.8083G>C (p.Glu2695Gln)
c.3449G>C
c.2482G>C (p.Glu828Gln)
c.295G>C (p.Glu99Gln)
n.169G>C
c.4738G>C
c.7891G>C (p.Glu2631Gln)
c.8020G>C (p.Glu2674Gln)
c.8017G>C (p.Glu2673Gln)
c.7948G>C (p.Glu2650Gln)
c.7912G>C (p.Glu2638Gln)
c.7864G>C (p.Glu2622Gln)
c.7822G>C (p.Glu2608Gln)
8g.133133555G=CA1821104927TGc.8083G= (p.Glu2695=)
c.3449G=
c.2482G= (p.Glu828=)
c.295G= (p.Glu99=)
n.169G=
c.4738G=
c.7891G= (p.Glu2631=)
c.8020G= (p.Glu2674=)
c.8017G= (p.Glu2673=)
c.7948G= (p.Glu2650=)
c.7912G= (p.Glu2638=)
c.7864G= (p.Glu2622=)
c.7822G= (p.Glu2608=)
8g.133133555G>TCA372253296TGc.8083G>T (p.Glu2695Ter)
c.3449G>T
c.2482G>T (p.Glu828Ter)
c.295G>T (p.Glu99Ter)
n.169G>T
c.4738G>T
c.7891G>T (p.Glu2631Ter)
c.8020G>T (p.Glu2674Ter)
c.8017G>T (p.Glu2673Ter)
c.7948G>T (p.Glu2650Ter)
c.7912G>T (p.Glu2638Ter)
c.7864G>T (p.Glu2622Ter)
c.7822G>T (p.Glu2608Ter)
8g.133133556A=CA1821104928TGc.8084A= (p.Glu2695=)
c.3450A=
c.2483A= (p.Glu828=)
c.296A= (p.Glu99=)
n.170A=
c.4739A=
c.7892A= (p.Glu2631=)
c.8021A= (p.Glu2674=)
c.8018A= (p.Glu2673=)
c.7949A= (p.Glu2650=)
c.7913A= (p.Glu2638=)
c.7865A= (p.Glu2622=)
c.7823A= (p.Glu2608=)
8g.133133556A>CCA372253300TGc.8084A>C (p.Glu2695Ala)
c.3450A>C
c.2483A>C (p.Glu828Ala)
c.296A>C (p.Glu99Ala)
n.170A>C
c.4739A>C
c.7892A>C (p.Glu2631Ala)
c.8021A>C (p.Glu2674Ala)
c.8018A>C (p.Glu2673Ala)
c.7949A>C (p.Glu2650Ala)
c.7913A>C (p.Glu2638Ala)
c.7865A>C (p.Glu2622Ala)
c.7823A>C (p.Glu2608Ala)
8g.133133556A>GCA372253301TGc.8084A>G (p.Glu2695Gly)
c.3450A>G
c.2483A>G (p.Glu828Gly)
c.296A>G (p.Glu99Gly)
n.170A>G
c.4739A>G
c.7892A>G (p.Glu2631Gly)
c.8021A>G (p.Glu2674Gly)
c.8018A>G (p.Glu2673Gly)
c.7949A>G (p.Glu2650Gly)
c.7913A>G (p.Glu2638Gly)
c.7865A>G (p.Glu2622Gly)
c.7823A>G (p.Glu2608Gly)
8g.133133556A>TCA4885890TGc.8084A>T (p.Glu2695Val)
c.3450A>T
c.2483A>T (p.Glu828Val)
c.296A>T (p.Glu99Val)
n.170A>T
c.4739A>T
c.7892A>T (p.Glu2631Val)
c.8021A>T (p.Glu2674Val)
c.8018A>T (p.Glu2673Val)
c.7949A>T (p.Glu2650Val)
c.7913A>T (p.Glu2638Val)
c.7865A>T (p.Glu2622Val)
c.7823A>T (p.Glu2608Val)
 dbSNP ExAC gnomAD v2
8g.133133557G>ACA463017142TGc.8085G>A (p.Glu2695=)
c.3451G>A
c.2484G>A (p.Glu828=)
c.297G>A (p.Glu99=)
n.171G>A
c.4740G>A
c.7893G>A (p.Glu2631=)
c.8022G>A (p.Glu2674=)
c.8019G>A (p.Glu2673=)
c.7950G>A (p.Glu2650=)
c.7914G>A (p.Glu2638=)
c.7866G>A (p.Glu2622=)
c.7824G>A (p.Glu2608=)
8g.133133557G>CCA4885891TGc.8085G>C (p.Glu2695Asp)
c.3451G>C
c.2484G>C (p.Glu828Asp)
c.297G>C (p.Glu99Asp)
n.171G>C
c.4740G>C
c.7893G>C (p.Glu2631Asp)
c.8022G>C (p.Glu2674Asp)
c.8019G>C (p.Glu2673Asp)
c.7950G>C (p.Glu2650Asp)
c.7914G>C (p.Glu2638Asp)
c.7866G>C (p.Glu2622Asp)
c.7824G>C (p.Glu2608Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.133133557G=CA1821104929TGc.8085G= (p.Glu2695=)
c.3451G=
c.2484G= (p.Glu828=)
c.297G= (p.Glu99=)
n.171G=
c.4740G=
c.7893G= (p.Glu2631=)
c.8022G= (p.Glu2674=)
c.8019G= (p.Glu2673=)
c.7950G= (p.Glu2650=)
c.7914G= (p.Glu2638=)
c.7866G= (p.Glu2622=)
c.7824G= (p.Glu2608=)
8g.133133557G>TCA372253305TGc.8085G>T (p.Glu2695Asp)
c.3451G>T
c.2484G>T (p.Glu828Asp)
c.297G>T (p.Glu99Asp)
n.171G>T
c.4740G>T
c.7893G>T (p.Glu2631Asp)
c.8022G>T (p.Glu2674Asp)
c.8019G>T (p.Glu2673Asp)
c.7950G>T (p.Glu2650Asp)
c.7914G>T (p.Glu2638Asp)
c.7866G>T (p.Glu2622Asp)
c.7824G>T (p.Glu2608Asp)
8g.133133558A=CA1821104930TGc.8086A= (p.Asn2696=)
c.3452A=
c.2485A= (p.Asn829=)
c.298A= (p.Asn100=)
n.172A=
c.4741A=
c.7894A= (p.Asn2632=)
c.8023A= (p.Asn2675=)
c.8020A= (p.Asn2674=)
c.7951A= (p.Asn2651=)
c.7915A= (p.Asn2639=)
c.7867A= (p.Asn2623=)
c.7825A= (p.Asn2609=)
8g.133133558A>CCA372253308TGc.8086A>C (p.Asn2696His)
c.3452A>C
c.2485A>C (p.Asn829His)
c.298A>C (p.Asn100His)
n.172A>C
c.4741A>C
c.7894A>C (p.Asn2632His)
c.8023A>C (p.Asn2675His)
c.8020A>C (p.Asn2674His)
c.7951A>C (p.Asn2651His)
c.7915A>C (p.Asn2639His)
c.7867A>C (p.Asn2623His)
c.7825A>C (p.Asn2609His)
8g.133133558A>GCA372253307TGc.8086A>G (p.Asn2696Asp)
c.3452A>G
c.2485A>G (p.Asn829Asp)
c.298A>G (p.Asn100Asp)
n.172A>G
c.4741A>G
c.7894A>G (p.Asn2632Asp)
c.8023A>G (p.Asn2675Asp)
c.8020A>G (p.Asn2674Asp)
c.7951A>G (p.Asn2651Asp)
c.7915A>G (p.Asn2639Asp)
c.7867A>G (p.Asn2623Asp)
c.7825A>G (p.Asn2609Asp)
 dbSNP gnomAD v4
8g.133133558A>TCA372253306TGc.8086A>T (p.Asn2696Tyr)
c.3452A>T
c.2485A>T (p.Asn829Tyr)
c.298A>T (p.Asn100Tyr)
n.172A>T
c.4741A>T
c.7894A>T (p.Asn2632Tyr)
c.8023A>T (p.Asn2675Tyr)
c.8020A>T (p.Asn2674Tyr)
c.7951A>T (p.Asn2651Tyr)
c.7915A>T (p.Asn2639Tyr)
c.7867A>T (p.Asn2623Tyr)
c.7825A>T (p.Asn2609Tyr)
8g.133133559A=CA1821104931TGc.8087A= (p.Asn2696=)
c.3453A=
c.2486A= (p.Asn829=)
c.299A= (p.Asn100=)
n.173A=
c.4742A=
c.7895A= (p.Asn2632=)
c.8024A= (p.Asn2675=)
c.8021A= (p.Asn2674=)
c.7952A= (p.Asn2651=)
c.7916A= (p.Asn2639=)
c.7868A= (p.Asn2623=)
c.7826A= (p.Asn2609=)
8g.133133559A>CCA372253311TGc.8087A>C (p.Asn2696Thr)
c.3453A>C
c.2486A>C (p.Asn829Thr)
c.299A>C (p.Asn100Thr)
n.173A>C
c.4742A>C
c.7895A>C (p.Asn2632Thr)
c.8024A>C (p.Asn2675Thr)
c.8021A>C (p.Asn2674Thr)
c.7952A>C (p.Asn2651Thr)
c.7916A>C (p.Asn2639Thr)
c.7868A>C (p.Asn2623Thr)
c.7826A>C (p.Asn2609Thr)
 gnomAD v4
8g.133133559A>GCA372253313TGc.8087A>G (p.Asn2696Ser)
c.3453A>G
c.2486A>G (p.Asn829Ser)
c.299A>G (p.Asn100Ser)
n.173A>G
c.4742A>G
c.7895A>G (p.Asn2632Ser)
c.8024A>G (p.Asn2675Ser)
c.8021A>G (p.Asn2674Ser)
c.7952A>G (p.Asn2651Ser)
c.7916A>G (p.Asn2639Ser)
c.7868A>G (p.Asn2623Ser)
c.7826A>G (p.Asn2609Ser)
 dbSNP
8g.133133559A>TCA4885892TGc.8087A>T (p.Asn2696Ile)
c.3453A>T
c.2486A>T (p.Asn829Ile)
c.299A>T (p.Asn100Ile)
n.173A>T
c.4742A>T
c.7895A>T (p.Asn2632Ile)
c.8024A>T (p.Asn2675Ile)
c.8021A>T (p.Asn2674Ile)
c.7952A>T (p.Asn2651Ile)
c.7916A>T (p.Asn2639Ile)
c.7868A>T (p.Asn2623Ile)
c.7826A>T (p.Asn2609Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133560C>ACA372253316TGc.8088C>A (p.Asn2696Lys)
c.3454C>A
c.2487C>A (p.Asn829Lys)
c.300C>A (p.Asn100Lys)
n.174C>A
c.4743C>A
c.7896C>A (p.Asn2632Lys)
c.8025C>A (p.Asn2675Lys)
c.8022C>A (p.Asn2674Lys)
c.7953C>A (p.Asn2651Lys)
c.7917C>A (p.Asn2639Lys)
c.7869C>A (p.Asn2623Lys)
c.7827C>A (p.Asn2609Lys)
8g.133133560C>GCA372253318TGc.8088C>G (p.Asn2696Lys)
c.3454C>G
c.2487C>G (p.Asn829Lys)
c.300C>G (p.Asn100Lys)
n.174C>G
c.4743C>G
c.7896C>G (p.Asn2632Lys)
c.8025C>G (p.Asn2675Lys)
c.8022C>G (p.Asn2674Lys)
c.7953C>G (p.Asn2651Lys)
c.7917C>G (p.Asn2639Lys)
c.7869C>G (p.Asn2623Lys)
c.7827C>G (p.Asn2609Lys)
8g.133133560C>TCA463017146TGc.8088C>T (p.Asn2696=)
c.3454C>T
c.2487C>T (p.Asn829=)
c.300C>T (p.Asn100=)
n.174C>T
c.4743C>T
c.7896C>T (p.Asn2632=)
c.8025C>T (p.Asn2675=)
c.8022C>T (p.Asn2674=)
c.7953C>T (p.Asn2651=)
c.7917C>T (p.Asn2639=)
c.7869C>T (p.Asn2623=)
c.7827C>T (p.Asn2609=)
 ClinVar gnomAD v4
8g.133133561T>ACA372253321TGc.8089T>A (p.Tyr2697Asn)
c.3455T>A
c.2488T>A (p.Tyr830Asn)
c.301T>A (p.Tyr101Asn)
n.175T>A
c.4744T>A
c.7897T>A (p.Tyr2633Asn)
c.8026T>A (p.Tyr2676Asn)
c.8023T>A (p.Tyr2675Asn)
c.7954T>A (p.Tyr2652Asn)
c.7918T>A (p.Tyr2640Asn)
c.7870T>A (p.Tyr2624Asn)
c.7828T>A (p.Tyr2610Asn)
 dbSNP
8g.133133561T>CCA372253322TGc.8089T>C (p.Tyr2697His)
c.3455T>C
c.2488T>C (p.Tyr830His)
c.301T>C (p.Tyr101His)
n.175T>C
c.4744T>C
c.7897T>C (p.Tyr2633His)
c.8026T>C (p.Tyr2676His)
c.8023T>C (p.Tyr2675His)
c.7954T>C (p.Tyr2652His)
c.7918T>C (p.Tyr2640His)
c.7870T>C (p.Tyr2624His)
c.7828T>C (p.Tyr2610His)
 gnomAD v4
8g.133133561T>GCA372253324TGc.8089T>G (p.Tyr2697Asp)
c.3455T>G
c.2488T>G (p.Tyr830Asp)
c.301T>G (p.Tyr101Asp)
n.175T>G
c.4744T>G
c.7897T>G (p.Tyr2633Asp)
c.8026T>G (p.Tyr2676Asp)
c.8023T>G (p.Tyr2675Asp)
c.7954T>G (p.Tyr2652Asp)
c.7918T>G (p.Tyr2640Asp)
c.7870T>G (p.Tyr2624Asp)
c.7828T>G (p.Tyr2610Asp)
8g.133133561T=CA1821104932TGc.8089T= (p.Tyr2697=)
c.3455T=
c.2488T= (p.Tyr830=)
c.301T= (p.Tyr101=)
n.175T=
c.4744T=
c.7897T= (p.Tyr2633=)
c.8026T= (p.Tyr2676=)
c.8023T= (p.Tyr2675=)
c.7954T= (p.Tyr2652=)
c.7918T= (p.Tyr2640=)
c.7870T= (p.Tyr2624=)
c.7828T= (p.Tyr2610=)
8g.133133562A=CA1821104933TGc.8090A= (p.Tyr2697=)
c.3456A=
c.2489A= (p.Tyr830=)
c.302A= (p.Tyr101=)
n.176A=
c.4745A=
c.7898A= (p.Tyr2633=)
c.8027A= (p.Tyr2676=)
c.8024A= (p.Tyr2675=)
c.7955A= (p.Tyr2652=)
c.7919A= (p.Tyr2640=)
c.7871A= (p.Tyr2624=)
c.7829A= (p.Tyr2610=)
8g.133133562A>CCA372253326TGc.8090A>C (p.Tyr2697Ser)
c.3456A>C
c.2489A>C (p.Tyr830Ser)
c.302A>C (p.Tyr101Ser)
n.176A>C
c.4745A>C
c.7898A>C (p.Tyr2633Ser)
c.8027A>C (p.Tyr2676Ser)
c.8024A>C (p.Tyr2675Ser)
c.7955A>C (p.Tyr2652Ser)
c.7919A>C (p.Tyr2640Ser)
c.7871A>C (p.Tyr2624Ser)
c.7829A>C (p.Tyr2610Ser)
8g.133133562A>GCA372253328TGc.8090A>G (p.Tyr2697Cys)
c.3456A>G
c.2489A>G (p.Tyr830Cys)
c.302A>G (p.Tyr101Cys)
n.176A>G
c.4745A>G
c.7898A>G (p.Tyr2633Cys)
c.8027A>G (p.Tyr2676Cys)
c.8024A>G (p.Tyr2675Cys)
c.7955A>G (p.Tyr2652Cys)
c.7919A>G (p.Tyr2640Cys)
c.7871A>G (p.Tyr2624Cys)
c.7829A>G (p.Tyr2610Cys)
 dbSNP
8g.133133562A>TCA372253329TGc.8090A>T (p.Tyr2697Phe)
c.3456A>T
c.2489A>T (p.Tyr830Phe)
c.302A>T (p.Tyr101Phe)
n.176A>T
c.4745A>T
c.7898A>T (p.Tyr2633Phe)
c.8027A>T (p.Tyr2676Phe)
c.8024A>T (p.Tyr2675Phe)
c.7955A>T (p.Tyr2652Phe)
c.7919A>T (p.Tyr2640Phe)
c.7871A>T (p.Tyr2624Phe)
c.7829A>T (p.Tyr2610Phe)
8g.133133563C>ACA372253331TGc.8091C>A (p.Tyr2697Ter)
c.3457C>A
c.2490C>A (p.Tyr830Ter)
c.303C>A (p.Tyr101Ter)
n.177C>A
c.4746C>A
c.7899C>A (p.Tyr2633Ter)
c.8028C>A (p.Tyr2676Ter)
c.8025C>A (p.Tyr2675Ter)
c.7956C>A (p.Tyr2652Ter)
c.7920C>A (p.Tyr2640Ter)
c.7872C>A (p.Tyr2624Ter)
c.7830C>A (p.Tyr2610Ter)
8g.133133563C=CA1821104934TGc.8091C= (p.Tyr2697=)
c.3457C=
c.2490C= (p.Tyr830=)
c.303C= (p.Tyr101=)
n.177C=
c.4746C=
c.7899C= (p.Tyr2633=)
c.8028C= (p.Tyr2676=)
c.8025C= (p.Tyr2675=)
c.7956C= (p.Tyr2652=)
c.7920C= (p.Tyr2640=)
c.7872C= (p.Tyr2624=)
c.7830C= (p.Tyr2610=)
8g.133133563C>GCA186356742TGc.8091C>G (p.Tyr2697Ter)
c.3457C>G
c.2490C>G (p.Tyr830Ter)
c.303C>G (p.Tyr101Ter)
n.177C>G
c.4746C>G
c.7899C>G (p.Tyr2633Ter)
c.8028C>G (p.Tyr2676Ter)
c.8025C>G (p.Tyr2675Ter)
c.7956C>G (p.Tyr2652Ter)
c.7920C>G (p.Tyr2640Ter)
c.7872C>G (p.Tyr2624Ter)
c.7830C>G (p.Tyr2610Ter)
 dbSNP gnomAD v3 gnomAD v4
8g.133133563C>TCA463017152TGc.8091C>T (p.Tyr2697=)
c.3457C>T
c.2490C>T (p.Tyr830=)
c.303C>T (p.Tyr101=)
n.177C>T
c.4746C>T
c.7899C>T (p.Tyr2633=)
c.8028C>T (p.Tyr2676=)
c.8025C>T (p.Tyr2675=)
c.7956C>T (p.Tyr2652=)
c.7920C>T (p.Tyr2640=)
c.7872C>T (p.Tyr2624=)
c.7830C>T (p.Tyr2610=)
8g.133133564A>CCA372253334TGc.8092A>C (p.Lys2698Gln)
c.3458A>C
c.2491A>C (p.Lys831Gln)
c.304A>C (p.Lys102Gln)
n.178A>C
c.4747A>C
c.7900A>C (p.Lys2634Gln)
c.8029A>C (p.Lys2677Gln)
c.8026A>C (p.Lys2676Gln)
c.7957A>C (p.Lys2653Gln)
c.7921A>C (p.Lys2641Gln)
c.7873A>C (p.Lys2625Gln)
c.7831A>C (p.Lys2611Gln)
8g.133133564A>GCA372253343TGc.8092A>G (p.Lys2698Glu)
c.3458A>G
c.2491A>G (p.Lys831Glu)
c.304A>G (p.Lys102Glu)
n.178A>G
c.4747A>G
c.7900A>G (p.Lys2634Glu)
c.8029A>G (p.Lys2677Glu)
c.8026A>G (p.Lys2676Glu)
c.7957A>G (p.Lys2653Glu)
c.7921A>G (p.Lys2641Glu)
c.7873A>G (p.Lys2625Glu)
c.7831A>G (p.Lys2611Glu)
8g.133133564A>TCA372253345TGc.8092A>T (p.Lys2698Ter)
c.3458A>T
c.2491A>T (p.Lys831Ter)
c.304A>T (p.Lys102Ter)
n.178A>T
c.4747A>T
c.7900A>T (p.Lys2634Ter)
c.8029A>T (p.Lys2677Ter)
c.8026A>T (p.Lys2676Ter)
c.7957A>T (p.Lys2653Ter)
c.7921A>T (p.Lys2641Ter)
c.7873A>T (p.Lys2625Ter)
c.7831A>T (p.Lys2611Ter)
8g.133133565A=CA1821104935TGc.8093A= (p.Lys2698=)
c.3459A=
c.2492A= (p.Lys831=)
c.305A= (p.Lys102=)
n.179A=
c.4748A=
c.7901A= (p.Lys2634=)
c.8030A= (p.Lys2677=)
c.8027A= (p.Lys2676=)
c.7958A= (p.Lys2653=)
c.7922A= (p.Lys2641=)
c.7874A= (p.Lys2625=)
c.7832A= (p.Lys2611=)
8g.133133565A>CCA372253350TGc.8093A>C (p.Lys2698Thr)
c.3459A>C
c.2492A>C (p.Lys831Thr)
c.305A>C (p.Lys102Thr)
n.179A>C
c.4748A>C
c.7901A>C (p.Lys2634Thr)
c.8030A>C (p.Lys2677Thr)
c.8027A>C (p.Lys2676Thr)
c.7958A>C (p.Lys2653Thr)
c.7922A>C (p.Lys2641Thr)
c.7874A>C (p.Lys2625Thr)
c.7832A>C (p.Lys2611Thr)
8g.133133565A>GCA4885893TGc.8093A>G (p.Lys2698Arg)
c.3459A>G
c.2492A>G (p.Lys831Arg)
c.305A>G (p.Lys102Arg)
n.179A>G
c.4748A>G
c.7901A>G (p.Lys2634Arg)
c.8030A>G (p.Lys2677Arg)
c.8027A>G (p.Lys2676Arg)
c.7958A>G (p.Lys2653Arg)
c.7922A>G (p.Lys2641Arg)
c.7874A>G (p.Lys2625Arg)
c.7832A>G (p.Lys2611Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133565A>TCA372253348TGc.8093A>T (p.Lys2698Met)
c.3459A>T
c.2492A>T (p.Lys831Met)
c.305A>T (p.Lys102Met)
n.179A>T
c.4748A>T
c.7901A>T (p.Lys2634Met)
c.8030A>T (p.Lys2677Met)
c.8027A>T (p.Lys2676Met)
c.7958A>T (p.Lys2653Met)
c.7922A>T (p.Lys2641Met)
c.7874A>T (p.Lys2625Met)
c.7832A>T (p.Lys2611Met)
8g.133133566G>ACA463017156TGc.8094G>A (p.Lys2698=)
c.3460G>A
c.2493G>A (p.Lys831=)
c.306G>A (p.Lys102=)
n.180G>A
c.4749G>A
c.7902G>A (p.Lys2634=)
c.8031G>A (p.Lys2677=)
c.8028G>A (p.Lys2676=)
c.7959G>A (p.Lys2653=)
c.7923G>A (p.Lys2641=)
c.7875G>A (p.Lys2625=)
c.7833G>A (p.Lys2611=)
 gnomAD v4
8g.133133566G>CCA372253353TGc.8094G>C (p.Lys2698Asn)
c.3460G>C
c.2493G>C (p.Lys831Asn)
c.306G>C (p.Lys102Asn)
n.180G>C
c.4749G>C
c.7902G>C (p.Lys2634Asn)
c.8031G>C (p.Lys2677Asn)
c.8028G>C (p.Lys2676Asn)
c.7959G>C (p.Lys2653Asn)
c.7923G>C (p.Lys2641Asn)
c.7875G>C (p.Lys2625Asn)
c.7833G>C (p.Lys2611Asn)
 COSMIC
8g.133133566G=CA1821104936TGc.8094G= (p.Lys2698=)
c.3460G=
c.2493G= (p.Lys831=)
c.306G= (p.Lys102=)
n.180G=
c.4749G=
c.7902G= (p.Lys2634=)
c.8031G= (p.Lys2677=)
c.8028G= (p.Lys2676=)
c.7959G= (p.Lys2653=)
c.7923G= (p.Lys2641=)
c.7875G= (p.Lys2625=)
c.7833G= (p.Lys2611=)
8g.133133566G>TCA372253354TGc.8094G>T (p.Lys2698Asn)
c.3460G>T
c.2493G>T (p.Lys831Asn)
c.306G>T (p.Lys102Asn)
n.180G>T
c.4749G>T
c.7902G>T (p.Lys2634Asn)
c.8031G>T (p.Lys2677Asn)
c.8028G>T (p.Lys2676Asn)
c.7959G>T (p.Lys2653Asn)
c.7923G>T (p.Lys2641Asn)
c.7875G>T (p.Lys2625Asn)
c.7833G>T (p.Lys2611Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.133133567G>ACA372253356TGc.8095G>A (p.Glu2699Lys)
c.3461G>A
c.2494G>A (p.Glu832Lys)
c.307G>A (p.Glu103Lys)
n.181G>A
c.4750G>A
c.7903G>A (p.Glu2635Lys)
c.8032G>A (p.Glu2678Lys)
c.8029G>A (p.Glu2677Lys)
c.7960G>A (p.Glu2654Lys)
c.7924G>A (p.Glu2642Lys)
c.7876G>A (p.Glu2626Lys)
c.7834G>A (p.Glu2612Lys)
 ClinVar COSMIC
8g.133133567G>CCA372253358TGc.8095G>C (p.Glu2699Gln)
c.3461G>C
c.2494G>C (p.Glu832Gln)
c.307G>C (p.Glu103Gln)
n.181G>C
c.4750G>C
c.7903G>C (p.Glu2635Gln)
c.8032G>C (p.Glu2678Gln)
c.8029G>C (p.Glu2677Gln)
c.7960G>C (p.Glu2654Gln)
c.7924G>C (p.Glu2642Gln)
c.7876G>C (p.Glu2626Gln)
c.7834G>C (p.Glu2612Gln)
8g.133133567G>TCA372253359TGc.8095G>T (p.Glu2699Ter)
c.3461G>T
c.2494G>T (p.Glu832Ter)
c.307G>T (p.Glu103Ter)
n.181G>T
c.4750G>T
c.7903G>T (p.Glu2635Ter)
c.8032G>T (p.Glu2678Ter)
c.8029G>T (p.Glu2677Ter)
c.7960G>T (p.Glu2654Ter)
c.7924G>T (p.Glu2642Ter)
c.7876G>T (p.Glu2626Ter)
c.7834G>T (p.Glu2612Ter)
 ClinVar
8g.133133568A=CA1821104937TGc.8096A= (p.Glu2699=)
c.3462A=
c.2495A= (p.Glu832=)
c.308A= (p.Glu103=)
n.182A=
c.4751A=
c.7904A= (p.Glu2635=)
c.8033A= (p.Glu2678=)
c.8030A= (p.Glu2677=)
c.7961A= (p.Glu2654=)
c.7925A= (p.Glu2642=)
c.7877A= (p.Glu2626=)
c.7835A= (p.Glu2612=)
8g.133133568A>CCA372253362TGc.8096A>C (p.Glu2699Ala)
c.3462A>C
c.2495A>C (p.Glu832Ala)
c.308A>C (p.Glu103Ala)
n.182A>C
c.4751A>C
c.7904A>C (p.Glu2635Ala)
c.8033A>C (p.Glu2678Ala)
c.8030A>C (p.Glu2677Ala)
c.7961A>C (p.Glu2654Ala)
c.7925A>C (p.Glu2642Ala)
c.7877A>C (p.Glu2626Ala)
c.7835A>C (p.Glu2612Ala)
8g.133133568A>GCA372253364TGc.8096A>G (p.Glu2699Gly)
c.3462A>G
c.2495A>G (p.Glu832Gly)
c.308A>G (p.Glu103Gly)
n.182A>G
c.4751A>G
c.7904A>G (p.Glu2635Gly)
c.8033A>G (p.Glu2678Gly)
c.8030A>G (p.Glu2677Gly)
c.7961A>G (p.Glu2654Gly)
c.7925A>G (p.Glu2642Gly)
c.7877A>G (p.Glu2626Gly)
c.7835A>G (p.Glu2612Gly)
 dbSNP
8g.133133568A>TCA372253365TGc.8096A>T (p.Glu2699Val)
c.3462A>T
c.2495A>T (p.Glu832Val)
c.308A>T (p.Glu103Val)
n.182A>T
c.4751A>T
c.7904A>T (p.Glu2635Val)
c.8033A>T (p.Glu2678Val)
c.8030A>T (p.Glu2677Val)
c.7961A>T (p.Glu2654Val)
c.7925A>T (p.Glu2642Val)
c.7877A>T (p.Glu2626Val)
c.7835A>T (p.Glu2612Val)
8g.133133569G>ACA463017161TGc.8097G>A (p.Glu2699=)
c.3463G>A
c.2496G>A (p.Glu832=)
c.309G>A (p.Glu103=)
n.183G>A
c.4752G>A
c.7905G>A (p.Glu2635=)
c.8034G>A (p.Glu2678=)
c.8031G>A (p.Glu2677=)
c.7962G>A (p.Glu2654=)
c.7926G>A (p.Glu2642=)
c.7878G>A (p.Glu2626=)
c.7836G>A (p.Glu2612=)
 gnomAD v4
8g.133133569G>CCA372253367TGc.8097G>C (p.Glu2699Asp)
c.3463G>C
c.2496G>C (p.Glu832Asp)
c.309G>C (p.Glu103Asp)
n.183G>C
c.4752G>C
c.7905G>C (p.Glu2635Asp)
c.8034G>C (p.Glu2678Asp)
c.8031G>C (p.Glu2677Asp)
c.7962G>C (p.Glu2654Asp)
c.7926G>C (p.Glu2642Asp)
c.7878G>C (p.Glu2626Asp)
c.7836G>C (p.Glu2612Asp)
8g.133133569G>TCA372253369TGc.8097G>T (p.Glu2699Asp)
c.3463G>T
c.2496G>T (p.Glu832Asp)
c.309G>T (p.Glu103Asp)
n.183G>T
c.4752G>T
c.7905G>T (p.Glu2635Asp)
c.8034G>T (p.Glu2678Asp)
c.8031G>T (p.Glu2677Asp)
c.7962G>T (p.Glu2654Asp)
c.7926G>T (p.Glu2642Asp)
c.7878G>T (p.Glu2626Asp)
c.7836G>T (p.Glu2612Asp)
8g.133133570T>ACA372253370TGc.8098T>A (p.Phe2700Ile)
c.3464T>A
c.2497T>A (p.Phe833Ile)
c.310T>A (p.Phe104Ile)
n.184T>A
c.4753T>A
c.7906T>A (p.Phe2636Ile)
c.8035T>A (p.Phe2679Ile)
c.8032T>A (p.Phe2678Ile)
c.7963T>A (p.Phe2655Ile)
c.7927T>A (p.Phe2643Ile)
c.7879T>A (p.Phe2627Ile)
c.7837T>A (p.Phe2613Ile)
8g.133133570T>CCA372253371TGc.8098T>C (p.Phe2700Leu)
c.3464T>C
c.2497T>C (p.Phe833Leu)
c.310T>C (p.Phe104Leu)
n.184T>C
c.4753T>C
c.7906T>C (p.Phe2636Leu)
c.8035T>C (p.Phe2679Leu)
c.8032T>C (p.Phe2678Leu)
c.7963T>C (p.Phe2655Leu)
c.7927T>C (p.Phe2643Leu)
c.7879T>C (p.Phe2627Leu)
c.7837T>C (p.Phe2613Leu)
8g.133133570T>GCA372253373TGc.8098T>G (p.Phe2700Val)
c.3464T>G
c.2497T>G (p.Phe833Val)
c.310T>G (p.Phe104Val)
n.184T>G
c.4753T>G
c.7906T>G (p.Phe2636Val)
c.8035T>G (p.Phe2679Val)
c.8032T>G (p.Phe2678Val)
c.7963T>G (p.Phe2655Val)
c.7927T>G (p.Phe2643Val)
c.7879T>G (p.Phe2627Val)
c.7837T>G (p.Phe2613Val)

Number of alleles fetched