Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165386773_165386796delCA2573130278SCN2Ac.4579_4602del (p.Phe1527_Asp1534del)
c.*2898_*2921del (n.*2898_*2921del)
c.*2566_*2589del (n.*2566_*2589del)
c.*5102_*5125del (n.*5102_*5125del)
c.*2521_*2544del (n.*2521_*2544del)
c.4183_4206del (p.Phe1395_Asp1402del)
n.8010_8033del
c.4549_4572del (p.Phe1517_Asp1524del)
c.3826_3849del (p.Phe1276_Asp1283del)
c.2377_2400del (p.Phe793_Asp800del)
2g.165386781C>ACA429972451SCN2Ac.4587C>A (p.Thr1529=)
c.*2906C>A (n.*2906C>A)
c.*2574C>A (n.*2574C>A)
c.*5110C>A (n.*5110C>A)
c.*2529C>A (n.*2529C>A)
c.4191C>A (p.Thr1397=)
n.8018C>A
c.4557C>A (p.Thr1519=)
c.3834C>A (p.Thr1278=)
c.2385C>A (p.Thr795=)
2g.165386781C>GCA429972452SCN2Ac.4587C>G (p.Thr1529=)
c.*2906C>G (n.*2906C>G)
c.*2574C>G (n.*2574C>G)
c.*5110C>G (n.*5110C>G)
c.*2529C>G (n.*2529C>G)
c.4191C>G (p.Thr1397=)
n.8018C>G
c.4557C>G (p.Thr1519=)
c.3834C>G (p.Thr1278=)
c.2385C>G (p.Thr795=)
2g.165386781C>TCA429972453SCN2Ac.4587C>T (p.Thr1529=)
c.*2906C>T (n.*2906C>T)
c.*2574C>T (n.*2574C>T)
c.*5110C>T (n.*5110C>T)
c.*2529C>T (n.*2529C>T)
c.4191C>T (p.Thr1397=)
n.8018C>T
c.4557C>T (p.Thr1519=)
c.3834C>T (p.Thr1278=)
c.2385C>T (p.Thr795=)
2g.165386782A=CA1304563746SCN2Ac.4588A= (p.Lys1530=)
c.*2907A= (n.*2907A=)
c.*2575A= (n.*2575A=)
c.*5111A= (n.*5111A=)
c.*2530A= (n.*2530A=)
c.4192A= (p.Lys1398=)
n.8019A=
c.4558A= (p.Lys1520=)
c.3835A= (p.Lys1279=)
c.2386A= (p.Lys796=)
2g.165386782A>CCA349036228SCN2Ac.4588A>C (p.Lys1530Gln)
c.*2907A>C (n.*2907A>C)
c.*2575A>C (n.*2575A>C)
c.*5111A>C (n.*5111A>C)
c.*2530A>C (n.*2530A>C)
c.4192A>C (p.Lys1398Gln)
n.8019A>C
c.4558A>C (p.Lys1520Gln)
c.3835A>C (p.Lys1279Gln)
c.2386A>C (p.Lys796Gln)
2g.165386782A>GCA349036226SCN2Ac.4588A>G (p.Lys1530Glu)
c.*2907A>G (n.*2907A>G)
c.*2575A>G (n.*2575A>G)
c.*5111A>G (n.*5111A>G)
c.*2530A>G (n.*2530A>G)
c.4192A>G (p.Lys1398Glu)
n.8019A>G
c.4558A>G (p.Lys1520Glu)
c.3835A>G (p.Lys1279Glu)
c.2386A>G (p.Lys796Glu)
2g.165386782A>TCA349036227SCN2Ac.4588A>T (p.Lys1530Ter)
c.*2907A>T (n.*2907A>T)
c.*2575A>T (n.*2575A>T)
c.*5111A>T (n.*5111A>T)
c.*2530A>T (n.*2530A>T)
c.4192A>T (p.Lys1398Ter)
n.8019A>T
c.4558A>T (p.Lys1520Ter)
c.3835A>T (p.Lys1279Ter)
c.2386A>T (p.Lys796Ter)
2g.165386783A>CCA349036229SCN2Ac.4589A>C (p.Lys1530Thr)
c.*2908A>C (n.*2908A>C)
c.*2576A>C (n.*2576A>C)
c.*5112A>C (n.*5112A>C)
c.*2531A>C (n.*2531A>C)
c.4193A>C (p.Lys1398Thr)
n.8020A>C
c.4559A>C (p.Lys1520Thr)
c.3836A>C (p.Lys1279Thr)
c.2387A>C (p.Lys796Thr)
2g.165386783A>GCA349036230SCN2Ac.4589A>G (p.Lys1530Arg)
c.*2908A>G (n.*2908A>G)
c.*2576A>G (n.*2576A>G)
c.*5112A>G (n.*5112A>G)
c.*2531A>G (n.*2531A>G)
c.4193A>G (p.Lys1398Arg)
n.8020A>G
c.4559A>G (p.Lys1520Arg)
c.3836A>G (p.Lys1279Arg)
c.2387A>G (p.Lys796Arg)
2g.165386783A>TCA349036231SCN2Ac.4589A>T (p.Lys1530Ile)
c.*2908A>T (n.*2908A>T)
c.*2576A>T (n.*2576A>T)
c.*5112A>T (n.*5112A>T)
c.*2531A>T (n.*2531A>T)
c.4193A>T (p.Lys1398Ile)
n.8020A>T
c.4559A>T (p.Lys1520Ile)
c.3836A>T (p.Lys1279Ile)
c.2387A>T (p.Lys796Ile)
2g.165386784A=CA1304563747SCN2Ac.4590A= (p.Lys1530=)
c.*2909A= (n.*2909A=)
c.*2577A= (n.*2577A=)
c.*5113A= (n.*5113A=)
c.*2532A= (n.*2532A=)
c.4194A= (p.Lys1398=)
n.8021A=
c.4560A= (p.Lys1520=)
c.3837A= (p.Lys1279=)
c.2388A= (p.Lys796=)
2g.165386784A>CCA349036232SCN2Ac.4590A>C (p.Lys1530Asn)
c.*2909A>C (n.*2909A>C)
c.*2577A>C (n.*2577A>C)
c.*5113A>C (n.*5113A>C)
c.*2532A>C (n.*2532A>C)
c.4194A>C (p.Lys1398Asn)
n.8021A>C
c.4560A>C (p.Lys1520Asn)
c.3837A>C (p.Lys1279Asn)
c.2388A>C (p.Lys796Asn)
2g.165386784A>GCA429972457SCN2Ac.4590A>G (p.Lys1530=)
c.*2909A>G (n.*2909A>G)
c.*2577A>G (n.*2577A>G)
c.*5113A>G (n.*5113A>G)
c.*2532A>G (n.*2532A>G)
c.4194A>G (p.Lys1398=)
n.8021A>G
c.4560A>G (p.Lys1520=)
c.3837A>G (p.Lys1279=)
c.2388A>G (p.Lys796=)
2g.165386784A>TCA349036233SCN2Ac.4590A>T (p.Lys1530Asn)
c.*2909A>T (n.*2909A>T)
c.*2577A>T (n.*2577A>T)
c.*5113A>T (n.*5113A>T)
c.*2532A>T (n.*2532A>T)
c.4194A>T (p.Lys1398Asn)
n.8021A>T
c.4560A>T (p.Lys1520Asn)
c.3837A>T (p.Lys1279Asn)
c.2388A>T (p.Lys796Asn)
2g.165386785C>ACA349036234SCN2Ac.4591C>A (p.Gln1531Lys)
c.*2910C>A (n.*2910C>A)
c.*2578C>A (n.*2578C>A)
c.*5114C>A (n.*5114C>A)
c.*2533C>A (n.*2533C>A)
c.4195C>A (p.Gln1399Lys)
n.8022C>A
c.4561C>A (p.Gln1521Lys)
c.3838C>A (p.Gln1280Lys)
c.2389C>A (p.Gln797Lys)
2g.165386785C=CA1304563748SCN2Ac.4591C= (p.Gln1531=)
c.*2910C= (n.*2910C=)
c.*2578C= (n.*2578C=)
c.*5114C= (n.*5114C=)
c.*2533C= (n.*2533C=)
c.4195C= (p.Gln1399=)
n.8022C=
c.4561C= (p.Gln1521=)
c.3838C= (p.Gln1280=)
c.2389C= (p.Gln797=)
2g.165386785C>GCA349036235SCN2Ac.4591C>G (p.Gln1531Glu)
c.*2910C>G (n.*2910C>G)
c.*2578C>G (n.*2578C>G)
c.*5114C>G (n.*5114C>G)
c.*2533C>G (n.*2533C>G)
c.4195C>G (p.Gln1399Glu)
n.8022C>G
c.4561C>G (p.Gln1521Glu)
c.3838C>G (p.Gln1280Glu)
c.2389C>G (p.Gln797Glu)
2g.165386785C>TCA349036236SCN2Ac.4591C>T (p.Gln1531Ter)
c.*2910C>T (n.*2910C>T)
c.*2578C>T (n.*2578C>T)
c.*5114C>T (n.*5114C>T)
c.*2533C>T (n.*2533C>T)
c.4195C>T (p.Gln1399Ter)
n.8022C>T
c.4561C>T (p.Gln1521Ter)
c.3838C>T (p.Gln1280Ter)
c.2389C>T (p.Gln797Ter)
ClinVar
2g.165386786A>CCA349036237SCN2Ac.4592A>C (p.Gln1531Pro)
c.*2911A>C (n.*2911A>C)
c.*2579A>C (n.*2579A>C)
c.*5115A>C (n.*5115A>C)
c.*2534A>C (n.*2534A>C)
c.4196A>C (p.Gln1399Pro)
n.8023A>C
c.4562A>C (p.Gln1521Pro)
c.3839A>C (p.Gln1280Pro)
c.2390A>C (p.Gln797Pro)
2g.165386786A>GCA349036238SCN2Ac.4592A>G (p.Gln1531Arg)
c.*2911A>G (n.*2911A>G)
c.*2579A>G (n.*2579A>G)
c.*5115A>G (n.*5115A>G)
c.*2534A>G (n.*2534A>G)
c.4196A>G (p.Gln1399Arg)
n.8023A>G
c.4562A>G (p.Gln1521Arg)
c.3839A>G (p.Gln1280Arg)
c.2390A>G (p.Gln797Arg)
2g.165386786A>TCA349036239SCN2Ac.4592A>T (p.Gln1531Leu)
c.*2911A>T (n.*2911A>T)
c.*2579A>T (n.*2579A>T)
c.*5115A>T (n.*5115A>T)
c.*2534A>T (n.*2534A>T)
c.4196A>T (p.Gln1399Leu)
n.8023A>T
c.4562A>T (p.Gln1521Leu)
c.3839A>T (p.Gln1280Leu)
c.2390A>T (p.Gln797Leu)
2g.165386787A>CCA349036241SCN2Ac.4593A>C (p.Gln1531His)
c.*2912A>C (n.*2912A>C)
c.*2580A>C (n.*2580A>C)
c.*5116A>C (n.*5116A>C)
c.*2535A>C (n.*2535A>C)
c.4197A>C (p.Gln1399His)
n.8024A>C
c.4563A>C (p.Gln1521His)
c.3840A>C (p.Gln1280His)
c.2391A>C (p.Gln797His)
2g.165386787A>GCA429972468SCN2Ac.4593A>G (p.Gln1531=)
c.*2912A>G (n.*2912A>G)
c.*2580A>G (n.*2580A>G)
c.*5116A>G (n.*5116A>G)
c.*2535A>G (n.*2535A>G)
c.4197A>G (p.Gln1399=)
n.8024A>G
c.4563A>G (p.Gln1521=)
c.3840A>G (p.Gln1280=)
c.2391A>G (p.Gln797=)
2g.165386787A>TCA349036240SCN2Ac.4593A>T (p.Gln1531His)
c.*2912A>T (n.*2912A>T)
c.*2580A>T (n.*2580A>T)
c.*5116A>T (n.*5116A>T)
c.*2535A>T (n.*2535A>T)
c.4197A>T (p.Gln1399His)
n.8024A>T
c.4563A>T (p.Gln1521His)
c.3840A>T (p.Gln1280His)
c.2391A>T (p.Gln797His)
ClinVar
2g.165386788G>ACA349036242SCN2Ac.4594G>A (p.Val1532Ile)
c.*2913G>A (n.*2913G>A)
c.*2581G>A (n.*2581G>A)
c.*5117G>A (n.*5117G>A)
c.*2536G>A (n.*2536G>A)
c.4198G>A (p.Val1400Ile)
n.8025G>A
c.4564G>A (p.Val1522Ile)
c.3841G>A (p.Val1281Ile)
c.2392G>A (p.Val798Ile)
2g.165386788G>CCA349036243SCN2Ac.4594G>C (p.Val1532Leu)
c.*2913G>C (n.*2913G>C)
c.*2581G>C (n.*2581G>C)
c.*5117G>C (n.*5117G>C)
c.*2536G>C (n.*2536G>C)
c.4198G>C (p.Val1400Leu)
n.8025G>C
c.4564G>C (p.Val1522Leu)
c.3841G>C (p.Val1281Leu)
c.2392G>C (p.Val798Leu)
2g.165386788G>TCA349036244SCN2Ac.4594G>T (p.Val1532Phe)
c.*2913G>T (n.*2913G>T)
c.*2581G>T (n.*2581G>T)
c.*5117G>T (n.*5117G>T)
c.*2536G>T (n.*2536G>T)
c.4198G>T (p.Val1400Phe)
n.8025G>T
c.4564G>T (p.Val1522Phe)
c.3841G>T (p.Val1281Phe)
c.2392G>T (p.Val798Phe)
2g.165386789T>ACA349036245SCN2Ac.4595T>A (p.Val1532Asp)
c.*2914T>A (n.*2914T>A)
c.*2582T>A (n.*2582T>A)
c.*5118T>A (n.*5118T>A)
c.*2537T>A (n.*2537T>A)
c.4199T>A (p.Val1400Asp)
n.8026T>A
c.4565T>A (p.Val1522Asp)
c.3842T>A (p.Val1281Asp)
c.2393T>A (p.Val798Asp)
2g.165386789T>CCA349036246SCN2Ac.4595T>C (p.Val1532Ala)
c.*2914T>C (n.*2914T>C)
c.*2582T>C (n.*2582T>C)
c.*5118T>C (n.*5118T>C)
c.*2537T>C (n.*2537T>C)
c.4199T>C (p.Val1400Ala)
n.8026T>C
c.4565T>C (p.Val1522Ala)
c.3842T>C (p.Val1281Ala)
c.2393T>C (p.Val798Ala)
2g.165386789T>GCA349036247SCN2Ac.4595T>G (p.Val1532Gly)
c.*2914T>G (n.*2914T>G)
c.*2582T>G (n.*2582T>G)
c.*5118T>G (n.*5118T>G)
c.*2537T>G (n.*2537T>G)
c.4199T>G (p.Val1400Gly)
n.8026T>G
c.4565T>G (p.Val1522Gly)
c.3842T>G (p.Val1281Gly)
c.2393T>G (p.Val798Gly)
2g.165386790C>ACA1940305SCN2Ac.4596C>A (p.Val1532=)
c.*2915C>A (n.*2915C>A)
c.*2583C>A (n.*2583C>A)
c.*5119C>A (n.*5119C>A)
c.*2538C>A (n.*2538C>A)
c.4200C>A (p.Val1400=)
n.8027C>A
c.4566C>A (p.Val1522=)
c.3843C>A (p.Val1281=)
c.2394C>A (p.Val798=)
dbSNP ExAC gnomAD COSMIC COSMIC
2g.165386790C=CA1304563749SCN2Ac.4596C= (p.Val1532=)
c.*2915C= (n.*2915C=)
c.*2583C= (n.*2583C=)
c.*5119C= (n.*5119C=)
c.*2538C= (n.*2538C=)
c.4200C= (p.Val1400=)
n.8027C=
c.4566C= (p.Val1522=)
c.3843C= (p.Val1281=)
c.2394C= (p.Val798=)
2g.165386790C>GCA429972471SCN2Ac.4596C>G (p.Val1532=)
c.*2915C>G (n.*2915C>G)
c.*2583C>G (n.*2583C>G)
c.*5119C>G (n.*5119C>G)
c.*2538C>G (n.*2538C>G)
c.4200C>G (p.Val1400=)
n.8027C>G
c.4566C>G (p.Val1522=)
c.3843C>G (p.Val1281=)
c.2394C>G (p.Val798=)
ClinVar
2g.165386790C>TCA429972473SCN2Ac.4596C>T (p.Val1532=)
c.*2915C>T (n.*2915C>T)
c.*2583C>T (n.*2583C>T)
c.*5119C>T (n.*5119C>T)
c.*2538C>T (n.*2538C>T)
c.4200C>T (p.Val1400=)
n.8027C>T
c.4566C>T (p.Val1522=)
c.3843C>T (p.Val1281=)
c.2394C>T (p.Val798=)
COSMIC COSMIC
2g.165386791T>ACA349036248SCN2Ac.4597T>A (p.Phe1533Ile)
c.*2916T>A (n.*2916T>A)
c.*2584T>A (n.*2584T>A)
c.*5120T>A (n.*5120T>A)
c.*2539T>A (n.*2539T>A)
c.4201T>A (p.Phe1401Ile)
n.8028T>A
c.4567T>A (p.Phe1523Ile)
c.3844T>A (p.Phe1282Ile)
c.2395T>A (p.Phe799Ile)
2g.165386791T>CCA349036249SCN2Ac.4597T>C (p.Phe1533Leu)
c.*2916T>C (n.*2916T>C)
c.*2584T>C (n.*2584T>C)
c.*5120T>C (n.*5120T>C)
c.*2539T>C (n.*2539T>C)
c.4201T>C (p.Phe1401Leu)
n.8028T>C
c.4567T>C (p.Phe1523Leu)
c.3844T>C (p.Phe1282Leu)
c.2395T>C (p.Phe799Leu)
2g.165386791T>GCA349036250SCN2Ac.4597T>G (p.Phe1533Val)
c.*2916T>G (n.*2916T>G)
c.*2584T>G (n.*2584T>G)
c.*5120T>G (n.*5120T>G)
c.*2539T>G (n.*2539T>G)
c.4201T>G (p.Phe1401Val)
n.8028T>G
c.4567T>G (p.Phe1523Val)
c.3844T>G (p.Phe1282Val)
c.2395T>G (p.Phe799Val)
2g.165386791T=CA1304563750SCN2Ac.4597T= (p.Phe1533=)
c.*2916T= (n.*2916T=)
c.*2584T= (n.*2584T=)
c.*5120T= (n.*5120T=)
c.*2539T= (n.*2539T=)
c.4201T= (p.Phe1401=)
n.8028T=
c.4567T= (p.Phe1523=)
c.3844T= (p.Phe1282=)
c.2395T= (p.Phe799=)
2g.165386792T>ACA349036251SCN2Ac.4598T>A (p.Phe1533Tyr)
c.*2917T>A (n.*2917T>A)
c.*2585T>A (n.*2585T>A)
c.*5121T>A (n.*5121T>A)
c.*2540T>A (n.*2540T>A)
c.4202T>A (p.Phe1401Tyr)
n.8029T>A
c.4568T>A (p.Phe1523Tyr)
c.3845T>A (p.Phe1282Tyr)
c.2396T>A (p.Phe799Tyr)
2g.165386792T>CCA349036252SCN2Ac.4598T>C (p.Phe1533Ser)
c.*2917T>C (n.*2917T>C)
c.*2585T>C (n.*2585T>C)
c.*5121T>C (n.*5121T>C)
c.*2540T>C (n.*2540T>C)
c.4202T>C (p.Phe1401Ser)
n.8029T>C
c.4568T>C (p.Phe1523Ser)
c.3845T>C (p.Phe1282Ser)
c.2396T>C (p.Phe799Ser)
2g.165386792T>GCA349036253SCN2Ac.4598T>G (p.Phe1533Cys)
c.*2917T>G (n.*2917T>G)
c.*2585T>G (n.*2585T>G)
c.*5121T>G (n.*5121T>G)
c.*2540T>G (n.*2540T>G)
c.4202T>G (p.Phe1401Cys)
n.8029T>G
c.4568T>G (p.Phe1523Cys)
c.3845T>G (p.Phe1282Cys)
c.2396T>G (p.Phe799Cys)
2g.165386793T>ACA349036255SCN2Ac.4599T>A (p.Phe1533Leu)
c.*2918T>A (n.*2918T>A)
c.*2586T>A (n.*2586T>A)
c.*5122T>A (n.*5122T>A)
c.*2541T>A (n.*2541T>A)
c.4203T>A (p.Phe1401Leu)
n.8030T>A
c.4569T>A (p.Phe1523Leu)
c.3846T>A (p.Phe1282Leu)
c.2397T>A (p.Phe799Leu)
2g.165386793T>CCA429972481SCN2Ac.4599T>C (p.Phe1533=)
c.*2918T>C (n.*2918T>C)
c.*2586T>C (n.*2586T>C)
c.*5122T>C (n.*5122T>C)
c.*2541T>C (n.*2541T>C)
c.4203T>C (p.Phe1401=)
n.8030T>C
c.4569T>C (p.Phe1523=)
c.3846T>C (p.Phe1282=)
c.2397T>C (p.Phe799=)
2g.165386793T>GCA349036254SCN2Ac.4599T>G (p.Phe1533Leu)
c.*2918T>G (n.*2918T>G)
c.*2586T>G (n.*2586T>G)
c.*5122T>G (n.*5122T>G)
c.*2541T>G (n.*2541T>G)
c.4203T>G (p.Phe1401Leu)
n.8030T>G
c.4569T>G (p.Phe1523Leu)
c.3846T>G (p.Phe1282Leu)
c.2397T>G (p.Phe799Leu)
2g.165386794G>ACA349036256SCN2Ac.4600G>A (p.Asp1534Asn)
c.*2919G>A (n.*2919G>A)
c.*2587G>A (n.*2587G>A)
c.*5123G>A (n.*5123G>A)
c.*2542G>A (n.*2542G>A)
c.4204G>A (p.Asp1402Asn)
n.8031G>A
c.4570G>A (p.Asp1524Asn)
c.3847G>A (p.Asp1283Asn)
c.2398G>A (p.Asp800Asn)
2g.165386794G>CCA349036257SCN2Ac.4600G>C (p.Asp1534His)
c.*2919G>C (n.*2919G>C)
c.*2587G>C (n.*2587G>C)
c.*5123G>C (n.*5123G>C)
c.*2542G>C (n.*2542G>C)
c.4204G>C (p.Asp1402His)
n.8031G>C
c.4570G>C (p.Asp1524His)
c.3847G>C (p.Asp1283His)
c.2398G>C (p.Asp800His)
2g.165386794G>TCA349036258SCN2Ac.4600G>T (p.Asp1534Tyr)
c.*2919G>T (n.*2919G>T)
c.*2587G>T (n.*2587G>T)
c.*5123G>T (n.*5123G>T)
c.*2542G>T (n.*2542G>T)
c.4204G>T (p.Asp1402Tyr)
n.8031G>T
c.4570G>T (p.Asp1524Tyr)
c.3847G>T (p.Asp1283Tyr)
c.2398G>T (p.Asp800Tyr)
2g.165386795A>CCA349036259SCN2Ac.4601A>C (p.Asp1534Ala)
c.*2920A>C (n.*2920A>C)
c.*2588A>C (n.*2588A>C)
c.*5124A>C (n.*5124A>C)
c.*2543A>C (n.*2543A>C)
c.4205A>C (p.Asp1402Ala)
n.8032A>C
c.4571A>C (p.Asp1524Ala)
c.3848A>C (p.Asp1283Ala)
c.2399A>C (p.Asp800Ala)
2g.165386795A>GCA349036260SCN2Ac.4601A>G (p.Asp1534Gly)
c.*2920A>G (n.*2920A>G)
c.*2588A>G (n.*2588A>G)
c.*5124A>G (n.*5124A>G)
c.*2543A>G (n.*2543A>G)
c.4205A>G (p.Asp1402Gly)
n.8032A>G
c.4571A>G (p.Asp1524Gly)
c.3848A>G (p.Asp1283Gly)
c.2399A>G (p.Asp800Gly)

Number of alleles fetched