Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178526991A=CA1310514251TTN,TTN-AS1c.*21T= (n.*21T=)
n.446+3355A=
n.219+3355A=
2g.178526991A>GCA761281414TTN,TTN-AS1c.*21T>C (n.*21T>C)
n.446+3355A>G
n.219+3355A>G
 dbSNP gnomAD v4
2g.178526992G>ACA1984848TTN,TTN-AS1c.*20C>T (n.*20C>T)
n.446+3356G>A
n.219+3356G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178526992G=CA1310514252TTN,TTN-AS1c.*20C= (n.*20C=)
n.446+3356G=
n.219+3356G=
2g.178526993T>CCA2662121428TTN,TTN-AS1c.*19A>G (n.*19A>G)
n.446+3357T>C
n.219+3357T>C
 gnomAD v4
2g.178526994A>GCA2701300934TTN,TTN-AS1c.*18T>C (n.*18T>C)
n.446+3358A>G
n.219+3358A>G
 dbSNP
2g.178526996A=CA1310514253TTN,TTN-AS1c.*16T= (n.*16T=)
n.446+3360A=
n.219+3360A=
2g.178526996A>GCA1039711022TTN,TTN-AS1c.*16T>C (n.*16T>C)
n.446+3360A>G
n.219+3360A>G
 dbSNP gnomAD v3 gnomAD v4
2g.178526997A=CA1310514254TTN,TTN-AS1c.*15T= (n.*15T=)
n.446+3361A=
n.219+3361A=
2g.178526997A>TCA1310514255TTN,TTN-AS1c.*15T>A (n.*15T>A)
n.446+3361A>T
n.219+3361A>T
 dbSNP gnomAD v4
2g.178526998G>TCA2531553648TTN,TTN-AS1c.*14C>A (n.*14C>A)
n.446+3362G>T
n.219+3362G>T
2g.178526999G>ACA2701024526TTN,TTN-AS1c.*13C>T (n.*13C>T)
n.446+3363G>A
n.219+3363G>A
 dbSNP
2g.178526999G=CA1310514256TTN,TTN-AS1c.*13C= (n.*13C=)
n.446+3363G=
n.219+3363G=
2g.178526999G>TCA1984849TTN,TTN-AS1c.*13C>A (n.*13C>A)
n.446+3363G>T
n.219+3363G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527000G>ACA2662121432TTN,TTN-AS1c.*12C>T (n.*12C>T)
n.446+3364G>A
n.219+3364G>A
 gnomAD v4
2g.178527001C=CA1310514257TTN,TTN-AS1c.*11G= (n.*11G=)
n.446+3365C=
n.219+3365C=
2g.178527001C>TCA1039711023TTN,TTN-AS1c.*11G>A (n.*11G>A)
n.446+3365C>T
n.219+3365C>T
 dbSNP gnomAD v3 gnomAD v4
2g.178527002A=CA1310514258TTN,TTN-AS1c.*10T= (n.*10T=)
n.446+3366A=
n.219+3366A=
2g.178527002A>GCA538089810TTN,TTN-AS1c.*10T>C (n.*10T>C)
n.446+3366A>G
n.219+3366A>G
 dbSNP gnomAD v2 gnomAD v4
2g.178527002A>TCA1310514259TTN,TTN-AS1c.*10T>A (n.*10T>A)
n.446+3366A>T
n.219+3366A>T
 dbSNP
2g.178527003C=CA1310514260TTN,TTN-AS1c.*9G= (n.*9G=)
n.446+3367C=
n.219+3367C=
2g.178527003C>TCA1310514261TTN,TTN-AS1c.*9G>A (n.*9G>A)
n.446+3367C>T
n.219+3367C>T
 dbSNP gnomAD v4
2g.178527004A=CA1310514262TTN,TTN-AS1c.*8T= (n.*8T=)
n.446+3368A=
n.219+3368A=
2g.178527004A>CCA1039711024TTN,TTN-AS1c.*8T>G (n.*8T>G)
n.446+3368A>C
n.219+3368A>C
 dbSNP gnomAD v3 gnomAD v4
2g.178527004A>TCA2577170129TTN,TTN-AS1c.*8T>A (n.*8T>A)
n.446+3368A>T
n.219+3368A>T
2g.178527005G>ACA1984850TTN,TTN-AS1c.*7C>T (n.*7C>T)
n.446+3369G>A
n.219+3369G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527005G=CA1310514263TTN,TTN-AS1c.*7C= (n.*7C=)
n.446+3369G=
n.219+3369G=
2g.178527006G>ACA538089811TTN,TTN-AS1c.*6C>T (n.*6C>T)
n.446+3370G>A
n.219+3370G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527006G>CCA2607822199TTN,TTN-AS1c.*6C>G (n.*6C>G)
n.446+3370G>C
n.219+3370G>C
 dbSNP gnomAD v4
2g.178527006G=CA1310514264TTN,TTN-AS1c.*6C= (n.*6C=)
n.446+3370G=
n.219+3370G=
2g.178527006G>TCA1984851TTN,TTN-AS1c.*6C>A (n.*6C>A)
n.446+3370G>T
n.219+3370G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527007C>ACA2662121441TTN,TTN-AS1c.*5G>T (n.*5G>T)
n.446+3371C>A
n.219+3371C>A
 gnomAD v4
2g.178527007C=CA1310514265TTN,TTN-AS1c.*5G= (n.*5G=)
n.446+3371C=
n.219+3371C=
2g.178527007C>TCA761281427TTN,TTN-AS1c.*5G>A (n.*5G>A)
n.446+3371C>T
n.219+3371C>T
 dbSNP
2g.178527009C=CA1310514266TTN,TTN-AS1c.*3G= (n.*3G=)
n.446+3373C=
n.219+3373C=
2g.178527009C>GCA2662121442TTN,TTN-AS1c.*3G>C (n.*3G>C)
n.446+3373C>G
n.219+3373C>G
 gnomAD v4
2g.178527009C>TCA538089813TTN,TTN-AS1c.*3G>A (n.*3G>A)
n.446+3373C>T
n.219+3373C>T
 dbSNP gnomAD v2 gnomAD v4
2g.178527011C>ACA761281428TTN,TTN-AS1c.*1G>T (n.*1G>T)
n.446+3375C>A
n.219+3375C>A
 dbSNP
2g.178527011C=CA1310514267TTN,TTN-AS1c.*1G= (n.*1G=)
n.446+3375C=
n.219+3375C=
2g.178527011C>GCA538089815TTN,TTN-AS1c.*1G>C (n.*1G>C)
n.446+3375C>G
n.219+3375C>G
 dbSNP gnomAD v2 gnomAD v4
2g.178527012T>ACA349398134TTN,TTN-AS1c.100272A>T (p.Ter33424Tyr)
c.81357A>T (p.Ter27119Tyr)
c.81156A>T (p.Ter27052Tyr)
c.80781A>T (p.Ter26927Tyr)
c.107976A>T (p.Ter35992Tyr)
c.103053A>T (p.Ter34351Tyr)
n.446+3376T>A
n.219+3376T>A
c.107073A>T (p.Ter35691Tyr)
c.80967A>T (p.Ter26989Tyr)
c.80826A>T (p.Ter26942Tyr)
c.106869A>T (p.Ter35623Tyr)
c.102267A>T (p.Ter34089Tyr)
c.102264A>T (p.Ter34088Tyr)
c.99306A>T (p.Ter33102Tyr)
c.80922A>T (p.Ter26974Tyr)
c.102417A>T (p.Ter34139Tyr)
c.102414A>T (p.Ter34138Tyr)
c.101847A>T (p.Ter33949Tyr)
c.99189A>T (p.Ter33063Tyr)
c.99108A>T (p.Ter33036Tyr)
c.80871A>T (p.Ter26957Tyr)
c.70725A>T (p.Ter23575Tyr)
2g.178527012T>CCA1984852TTN,TTN-AS1c.100272A>G (p.Ter33424=)
c.81357A>G (p.Ter27119=)
c.81156A>G (p.Ter27052=)
c.80781A>G (p.Ter26927=)
c.107976A>G (p.Ter35992=)
c.103053A>G (p.Ter34351=)
n.446+3376T>C
n.219+3376T>C
c.107073A>G (p.Ter35691=)
c.80967A>G (p.Ter26989=)
c.80826A>G (p.Ter26942=)
c.106869A>G (p.Ter35623=)
c.102267A>G (p.Ter34089=)
c.102264A>G (p.Ter34088=)
c.99306A>G (p.Ter33102=)
c.80922A>G (p.Ter26974=)
c.102417A>G (p.Ter34139=)
c.102414A>G (p.Ter34138=)
c.101847A>G (p.Ter33949=)
c.99189A>G (p.Ter33063=)
c.99108A>G (p.Ter33036=)
c.80871A>G (p.Ter26957=)
c.70725A>G (p.Ter23575=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527012T>GCA349398135TTN,TTN-AS1c.100272A>C (p.Ter33424Tyr)
c.81357A>C (p.Ter27119Tyr)
c.81156A>C (p.Ter27052Tyr)
c.80781A>C (p.Ter26927Tyr)
c.107976A>C (p.Ter35992Tyr)
c.103053A>C (p.Ter34351Tyr)
n.446+3376T>G
n.219+3376T>G
c.107073A>C (p.Ter35691Tyr)
c.80967A>C (p.Ter26989Tyr)
c.80826A>C (p.Ter26942Tyr)
c.106869A>C (p.Ter35623Tyr)
c.102267A>C (p.Ter34089Tyr)
c.102264A>C (p.Ter34088Tyr)
c.99306A>C (p.Ter33102Tyr)
c.80922A>C (p.Ter26974Tyr)
c.102417A>C (p.Ter34139Tyr)
c.102414A>C (p.Ter34138Tyr)
c.101847A>C (p.Ter33949Tyr)
c.99189A>C (p.Ter33063Tyr)
c.99108A>C (p.Ter33036Tyr)
c.80871A>C (p.Ter26957Tyr)
c.70725A>C (p.Ter23575Tyr)
2g.178527012T=CA1310514268TTN,TTN-AS1c.100272A= (p.Ter33424=)
c.81357A= (p.Ter27119=)
c.81156A= (p.Ter27052=)
c.80781A= (p.Ter26927=)
c.107976A= (p.Ter35992=)
c.103053A= (p.Ter34351=)
n.446+3376T=
n.219+3376T=
c.107073A= (p.Ter35691=)
c.80967A= (p.Ter26989=)
c.80826A= (p.Ter26942=)
c.106869A= (p.Ter35623=)
c.102267A= (p.Ter34089=)
c.102264A= (p.Ter34088=)
c.99306A= (p.Ter33102=)
c.80922A= (p.Ter26974=)
c.102417A= (p.Ter34139=)
c.102414A= (p.Ter34138=)
c.101847A= (p.Ter33949=)
c.99189A= (p.Ter33063=)
c.99108A= (p.Ter33036=)
c.80871A= (p.Ter26957=)
c.70725A= (p.Ter23575=)
2g.178527013T>ACA349398136TTN,TTN-AS1c.100271A>T (p.Ter33424Leu)
c.81356A>T (p.Ter27119Leu)
c.81155A>T (p.Ter27052Leu)
c.80780A>T (p.Ter26927Leu)
c.107975A>T (p.Ter35992Leu)
c.103052A>T (p.Ter34351Leu)
n.446+3377T>A
n.219+3377T>A
c.107072A>T (p.Ter35691Leu)
c.80966A>T (p.Ter26989Leu)
c.80825A>T (p.Ter26942Leu)
c.106868A>T (p.Ter35623Leu)
c.102266A>T (p.Ter34089Leu)
c.102263A>T (p.Ter34088Leu)
c.99305A>T (p.Ter33102Leu)
c.80921A>T (p.Ter26974Leu)
c.102416A>T (p.Ter34139Leu)
c.102413A>T (p.Ter34138Leu)
c.101846A>T (p.Ter33949Leu)
c.99188A>T (p.Ter33063Leu)
c.99107A>T (p.Ter33036Leu)
c.80870A>T (p.Ter26957Leu)
c.70724A>T (p.Ter23575Leu)
2g.178527013T>CCA430091448TTN,TTN-AS1c.100271A>G (p.Ter33424=)
c.81356A>G (p.Ter27119=)
c.81155A>G (p.Ter27052=)
c.80780A>G (p.Ter26927=)
c.107975A>G (p.Ter35992=)
c.103052A>G (p.Ter34351=)
n.446+3377T>C
n.219+3377T>C
c.107072A>G (p.Ter35691=)
c.80966A>G (p.Ter26989=)
c.80825A>G (p.Ter26942=)
c.106868A>G (p.Ter35623=)
c.102266A>G (p.Ter34089=)
c.102263A>G (p.Ter34088=)
c.99305A>G (p.Ter33102=)
c.80921A>G (p.Ter26974=)
c.102416A>G (p.Ter34139=)
c.102413A>G (p.Ter34138=)
c.101846A>G (p.Ter33949=)
c.99188A>G (p.Ter33063=)
c.99107A>G (p.Ter33036=)
c.80870A>G (p.Ter26957=)
c.70724A>G (p.Ter23575=)
 ClinVar dbSNP
2g.178527013T>GCA349398137TTN,TTN-AS1c.100271A>C (p.Ter33424Ser)
c.81356A>C (p.Ter27119Ser)
c.81155A>C (p.Ter27052Ser)
c.80780A>C (p.Ter26927Ser)
c.107975A>C (p.Ter35992Ser)
c.103052A>C (p.Ter34351Ser)
n.446+3377T>G
n.219+3377T>G
c.107072A>C (p.Ter35691Ser)
c.80966A>C (p.Ter26989Ser)
c.80825A>C (p.Ter26942Ser)
c.106868A>C (p.Ter35623Ser)
c.102266A>C (p.Ter34089Ser)
c.102263A>C (p.Ter34088Ser)
c.99305A>C (p.Ter33102Ser)
c.80921A>C (p.Ter26974Ser)
c.102416A>C (p.Ter34139Ser)
c.102413A>C (p.Ter34138Ser)
c.101846A>C (p.Ter33949Ser)
c.99188A>C (p.Ter33063Ser)
c.99107A>C (p.Ter33036Ser)
c.80870A>C (p.Ter26957Ser)
c.70724A>C (p.Ter23575Ser)
2g.178527014A=CA1310514269TTN,TTN-AS1c.100270T= (p.Ter33424=)
c.81355T= (p.Ter27119=)
c.81154T= (p.Ter27052=)
c.80779T= (p.Ter26927=)
c.107974T= (p.Ter35992=)
c.103051T= (p.Ter34351=)
n.446+3378A=
n.219+3378A=
c.107071T= (p.Ter35691=)
c.80965T= (p.Ter26989=)
c.80824T= (p.Ter26942=)
c.106867T= (p.Ter35623=)
c.102265T= (p.Ter34089=)
c.102262T= (p.Ter34088=)
c.99304T= (p.Ter33102=)
c.80920T= (p.Ter26974=)
c.102415T= (p.Ter34139=)
c.102412T= (p.Ter34138=)
c.101845T= (p.Ter33949=)
c.99187T= (p.Ter33063=)
c.99106T= (p.Ter33036=)
c.80869T= (p.Ter26957=)
c.70723T= (p.Ter23575=)
2g.178527014A>CCA349398138TTN,TTN-AS1c.100270T>G (p.Ter33424Glu)
c.81355T>G (p.Ter27119Glu)
c.81154T>G (p.Ter27052Glu)
c.80779T>G (p.Ter26927Glu)
c.107974T>G (p.Ter35992Glu)
c.103051T>G (p.Ter34351Glu)
n.446+3378A>C
n.219+3378A>C
c.107071T>G (p.Ter35691Glu)
c.80965T>G (p.Ter26989Glu)
c.80824T>G (p.Ter26942Glu)
c.106867T>G (p.Ter35623Glu)
c.102265T>G (p.Ter34089Glu)
c.102262T>G (p.Ter34088Glu)
c.99304T>G (p.Ter33102Glu)
c.80920T>G (p.Ter26974Glu)
c.102415T>G (p.Ter34139Glu)
c.102412T>G (p.Ter34138Glu)
c.101845T>G (p.Ter33949Glu)
c.99187T>G (p.Ter33063Glu)
c.99106T>G (p.Ter33036Glu)
c.80869T>G (p.Ter26957Glu)
c.70723T>G (p.Ter23575Glu)
2g.178527014A>GCA349398139TTN,TTN-AS1c.100270T>C (p.Ter33424Gln)
c.81355T>C (p.Ter27119Gln)
c.81154T>C (p.Ter27052Gln)
c.80779T>C (p.Ter26927Gln)
c.107974T>C (p.Ter35992Gln)
c.103051T>C (p.Ter34351Gln)
n.446+3378A>G
n.219+3378A>G
c.107071T>C (p.Ter35691Gln)
c.80965T>C (p.Ter26989Gln)
c.80824T>C (p.Ter26942Gln)
c.106867T>C (p.Ter35623Gln)
c.102265T>C (p.Ter34089Gln)
c.102262T>C (p.Ter34088Gln)
c.99304T>C (p.Ter33102Gln)
c.80920T>C (p.Ter26974Gln)
c.102415T>C (p.Ter34139Gln)
c.102412T>C (p.Ter34138Gln)
c.101845T>C (p.Ter33949Gln)
c.99187T>C (p.Ter33063Gln)
c.99106T>C (p.Ter33036Gln)
c.80869T>C (p.Ter26957Gln)
c.70723T>C (p.Ter23575Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched