Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178584668C>ACA16042421TTN,TTN-AS1n.38353+1G>T (p.=)
n.38152+1G>T (p.=)
c.38353+1G>T (p.=)
c.57268+1G>T (p.=)
c.38152+1G>T (p.=)
c.37777+1G>T (p.=)
c.64972+1G>T (p.=)
c.60049+1G>T (p.=)
n.597-12928C>A
n.2863C>A
c.64069+1G>T (p.=)
c.37963+1G>T (p.=)
c.37822+1G>T (p.=)
c.63865+1G>T (p.=)
c.59263+1G>T (p.=)
c.59260+1G>T (p.=)
c.56302+1G>T (p.=)
c.37918+1G>T (p.=)
c.59413+1G>T (p.=)
c.59410+1G>T (p.=)
c.58843+1G>T (p.=)
c.56185+1G>T (p.=)
c.56104+1G>T (p.=)
c.37867+1G>T (p.=)
c.27721+1G>T (p.=)
ClinVar dbSNP
2g.178584668C=CA1310537118TTN,TTN-AS1n.38353+1G= (p.=)
n.38152+1G= (p.=)
c.38353+1G= (p.=)
c.57268+1G= (p.=)
c.38152+1G= (p.=)
c.37777+1G= (p.=)
c.64972+1G= (p.=)
c.60049+1G= (p.=)
n.597-12928C=
n.2863C=
c.64069+1G= (p.=)
c.37963+1G= (p.=)
c.37822+1G= (p.=)
c.63865+1G= (p.=)
c.59263+1G= (p.=)
c.59260+1G= (p.=)
c.56302+1G= (p.=)
c.37918+1G= (p.=)
c.59413+1G= (p.=)
c.59410+1G= (p.=)
c.58843+1G= (p.=)
c.56185+1G= (p.=)
c.56104+1G= (p.=)
c.37867+1G= (p.=)
c.27721+1G= (p.=)
2g.178584668C>GCA349436032TTN,TTN-AS1n.38353+1G>C (p.=)
n.38152+1G>C (p.=)
c.38353+1G>C (p.=)
c.57268+1G>C (p.=)
c.38152+1G>C (p.=)
c.37777+1G>C (p.=)
c.64972+1G>C (p.=)
c.60049+1G>C (p.=)
n.597-12928C>G
n.2863C>G
c.64069+1G>C (p.=)
c.37963+1G>C (p.=)
c.37822+1G>C (p.=)
c.63865+1G>C (p.=)
c.59263+1G>C (p.=)
c.59260+1G>C (p.=)
c.56302+1G>C (p.=)
c.37918+1G>C (p.=)
c.59413+1G>C (p.=)
c.59410+1G>C (p.=)
c.58843+1G>C (p.=)
c.56185+1G>C (p.=)
c.56104+1G>C (p.=)
c.37867+1G>C (p.=)
c.27721+1G>C (p.=)
2g.178584668C>TCA349436034TTN,TTN-AS1n.38353+1G>A (p.=)
n.38152+1G>A (p.=)
c.38353+1G>A (p.=)
c.57268+1G>A (p.=)
c.38152+1G>A (p.=)
c.37777+1G>A (p.=)
c.64972+1G>A (p.=)
c.60049+1G>A (p.=)
n.597-12928C>T
n.2863C>T
c.64069+1G>A (p.=)
c.37963+1G>A (p.=)
c.37822+1G>A (p.=)
c.63865+1G>A (p.=)
c.59263+1G>A (p.=)
c.59260+1G>A (p.=)
c.56302+1G>A (p.=)
c.37918+1G>A (p.=)
c.59413+1G>A (p.=)
c.59410+1G>A (p.=)
c.58843+1G>A (p.=)
c.56185+1G>A (p.=)
c.56104+1G>A (p.=)
c.37867+1G>A (p.=)
c.27721+1G>A (p.=)
2g.178584669C>ACA349436036TTN,TTN-AS1n.38353G>T (p.Gly12785Cys)
n.38152G>T (p.Gly12718Cys)
c.38353G>T (p.Gly12785Cys)
c.57268G>T (p.Gly19090Cys)
c.38152G>T (p.Gly12718Cys)
c.37777G>T (p.Gly12593Cys)
c.64972G>T (p.Gly21658Cys)
c.60049G>T (p.Gly20017Cys)
n.597-12927C>A
n.2864C>A
c.64069G>T (p.Gly21357Cys)
c.37963G>T (p.Gly12655Cys)
c.37822G>T (p.Gly12608Cys)
c.63865G>T (p.Gly21289Cys)
c.59263G>T (p.Gly19755Cys)
c.59260G>T (p.Gly19754Cys)
c.56302G>T (p.Gly18768Cys)
c.37918G>T (p.Gly12640Cys)
c.59413G>T (p.Gly19805Cys)
c.59410G>T (p.Gly19804Cys)
c.58843G>T (p.Gly19615Cys)
c.56185G>T (p.Gly18729Cys)
c.56104G>T (p.Gly18702Cys)
c.37867G>T (p.Gly12623Cys)
c.27721G>T (p.Gly9241Cys)
2g.178584669C>GCA349436038TTN,TTN-AS1n.38353G>C (p.Gly12785Arg)
n.38152G>C (p.Gly12718Arg)
c.38353G>C (p.Gly12785Arg)
c.57268G>C (p.Gly19090Arg)
c.38152G>C (p.Gly12718Arg)
c.37777G>C (p.Gly12593Arg)
c.64972G>C (p.Gly21658Arg)
c.60049G>C (p.Gly20017Arg)
n.597-12927C>G
n.2864C>G
c.64069G>C (p.Gly21357Arg)
c.37963G>C (p.Gly12655Arg)
c.37822G>C (p.Gly12608Arg)
c.63865G>C (p.Gly21289Arg)
c.59263G>C (p.Gly19755Arg)
c.59260G>C (p.Gly19754Arg)
c.56302G>C (p.Gly18768Arg)
c.37918G>C (p.Gly12640Arg)
c.59413G>C (p.Gly19805Arg)
c.59410G>C (p.Gly19804Arg)
c.58843G>C (p.Gly19615Arg)
c.56185G>C (p.Gly18729Arg)
c.56104G>C (p.Gly18702Arg)
c.37867G>C (p.Gly12623Arg)
c.27721G>C (p.Gly9241Arg)
2g.178584669C>TCA349436040TTN,TTN-AS1n.38353G>A (p.Gly12785Ser)
n.38152G>A (p.Gly12718Ser)
c.38353G>A (p.Gly12785Ser)
c.57268G>A (p.Gly19090Ser)
c.38152G>A (p.Gly12718Ser)
c.37777G>A (p.Gly12593Ser)
c.64972G>A (p.Gly21658Ser)
c.60049G>A (p.Gly20017Ser)
n.597-12927C>T
n.2864C>T
c.64069G>A (p.Gly21357Ser)
c.37963G>A (p.Gly12655Ser)
c.37822G>A (p.Gly12608Ser)
c.63865G>A (p.Gly21289Ser)
c.59263G>A (p.Gly19755Ser)
c.59260G>A (p.Gly19754Ser)
c.56302G>A (p.Gly18768Ser)
c.37918G>A (p.Gly12640Ser)
c.59413G>A (p.Gly19805Ser)
c.59410G>A (p.Gly19804Ser)
c.58843G>A (p.Gly19615Ser)
c.56185G>A (p.Gly18729Ser)
c.56104G>A (p.Gly18702Ser)
c.37867G>A (p.Gly12623Ser)
c.27721G>A (p.Gly9241Ser)
2g.178584670A>CCA349436042TTN,TTN-AS1n.38352T>G (p.Phe12784Leu)
n.38151T>G (p.Phe12717Leu)
c.38352T>G (p.Phe12784Leu)
c.57267T>G (p.Phe19089Leu)
c.38151T>G (p.Phe12717Leu)
c.37776T>G (p.Phe12592Leu)
c.64971T>G (p.Phe21657Leu)
c.60048T>G (p.Phe20016Leu)
n.597-12926A>C
n.2865A>C
c.64068T>G (p.Phe21356Leu)
c.37962T>G (p.Phe12654Leu)
c.37821T>G (p.Phe12607Leu)
c.63864T>G (p.Phe21288Leu)
c.59262T>G (p.Phe19754Leu)
c.59259T>G (p.Phe19753Leu)
c.56301T>G (p.Phe18767Leu)
c.37917T>G (p.Phe12639Leu)
c.59412T>G (p.Phe19804Leu)
c.59409T>G (p.Phe19803Leu)
c.58842T>G (p.Phe19614Leu)
c.56184T>G (p.Phe18728Leu)
c.56103T>G (p.Phe18701Leu)
c.37866T>G (p.Phe12622Leu)
c.27720T>G (p.Phe9240Leu)
2g.178584670A>GCA430264037TTN,TTN-AS1n.38352T>C (p.Phe12784=)
n.38151T>C (p.Phe12717=)
c.38352T>C (p.Phe12784=)
c.57267T>C (p.Phe19089=)
c.38151T>C (p.Phe12717=)
c.37776T>C (p.Phe12592=)
c.64971T>C (p.Phe21657=)
c.60048T>C (p.Phe20016=)
n.597-12926A>G
n.2865A>G
c.64068T>C (p.Phe21356=)
c.37962T>C (p.Phe12654=)
c.37821T>C (p.Phe12607=)
c.63864T>C (p.Phe21288=)
c.59262T>C (p.Phe19754=)
c.59259T>C (p.Phe19753=)
c.56301T>C (p.Phe18767=)
c.37917T>C (p.Phe12639=)
c.59412T>C (p.Phe19804=)
c.59409T>C (p.Phe19803=)
c.58842T>C (p.Phe19614=)
c.56184T>C (p.Phe18728=)
c.56103T>C (p.Phe18701=)
c.37866T>C (p.Phe12622=)
c.27720T>C (p.Phe9240=)
2g.178584670A>TCA349436044TTN,TTN-AS1n.38352T>A (p.Phe12784Leu)
n.38151T>A (p.Phe12717Leu)
c.38352T>A (p.Phe12784Leu)
c.57267T>A (p.Phe19089Leu)
c.38151T>A (p.Phe12717Leu)
c.37776T>A (p.Phe12592Leu)
c.64971T>A (p.Phe21657Leu)
c.60048T>A (p.Phe20016Leu)
n.597-12926A>T
n.2865A>T
c.64068T>A (p.Phe21356Leu)
c.37962T>A (p.Phe12654Leu)
c.37821T>A (p.Phe12607Leu)
c.63864T>A (p.Phe21288Leu)
c.59262T>A (p.Phe19754Leu)
c.59259T>A (p.Phe19753Leu)
c.56301T>A (p.Phe18767Leu)
c.37917T>A (p.Phe12639Leu)
c.59412T>A (p.Phe19804Leu)
c.59409T>A (p.Phe19803Leu)
c.58842T>A (p.Phe19614Leu)
c.56184T>A (p.Phe18728Leu)
c.56103T>A (p.Phe18701Leu)
c.37866T>A (p.Phe12622Leu)
c.27720T>A (p.Phe9240Leu)
2g.178584671A=CA1310537119TTN,TTN-AS1n.38351T= (p.Phe12784=)
n.38150T= (p.Phe12717=)
c.38351T= (p.Phe12784=)
c.57266T= (p.Phe19089=)
c.38150T= (p.Phe12717=)
c.37775T= (p.Phe12592=)
c.64970T= (p.Phe21657=)
c.60047T= (p.Phe20016=)
n.597-12925A=
n.2866A=
c.64067T= (p.Phe21356=)
c.37961T= (p.Phe12654=)
c.37820T= (p.Phe12607=)
c.63863T= (p.Phe21288=)
c.59261T= (p.Phe19754=)
c.59258T= (p.Phe19753=)
c.56300T= (p.Phe18767=)
c.37916T= (p.Phe12639=)
c.59411T= (p.Phe19804=)
c.59408T= (p.Phe19803=)
c.58841T= (p.Phe19614=)
c.56183T= (p.Phe18728=)
c.56102T= (p.Phe18701=)
c.37865T= (p.Phe12622=)
c.27719T= (p.Phe9240=)
2g.178584671A>CCA349436047TTN,TTN-AS1n.38351T>G (p.Phe12784Cys)
n.38150T>G (p.Phe12717Cys)
c.38351T>G (p.Phe12784Cys)
c.57266T>G (p.Phe19089Cys)
c.38150T>G (p.Phe12717Cys)
c.37775T>G (p.Phe12592Cys)
c.64970T>G (p.Phe21657Cys)
c.60047T>G (p.Phe20016Cys)
n.597-12925A>C
n.2866A>C
c.64067T>G (p.Phe21356Cys)
c.37961T>G (p.Phe12654Cys)
c.37820T>G (p.Phe12607Cys)
c.63863T>G (p.Phe21288Cys)
c.59261T>G (p.Phe19754Cys)
c.59258T>G (p.Phe19753Cys)
c.56300T>G (p.Phe18767Cys)
c.37916T>G (p.Phe12639Cys)
c.59411T>G (p.Phe19804Cys)
c.59408T>G (p.Phe19803Cys)
c.58841T>G (p.Phe19614Cys)
c.56183T>G (p.Phe18728Cys)
c.56102T>G (p.Phe18701Cys)
c.37865T>G (p.Phe12622Cys)
c.27719T>G (p.Phe9240Cys)
2g.178584671A>GCA349436048TTN,TTN-AS1n.38351T>C (p.Phe12784Ser)
n.38150T>C (p.Phe12717Ser)
c.38351T>C (p.Phe12784Ser)
c.57266T>C (p.Phe19089Ser)
c.38150T>C (p.Phe12717Ser)
c.37775T>C (p.Phe12592Ser)
c.64970T>C (p.Phe21657Ser)
c.60047T>C (p.Phe20016Ser)
n.597-12925A>G
n.2866A>G
c.64067T>C (p.Phe21356Ser)
c.37961T>C (p.Phe12654Ser)
c.37820T>C (p.Phe12607Ser)
c.63863T>C (p.Phe21288Ser)
c.59261T>C (p.Phe19754Ser)
c.59258T>C (p.Phe19753Ser)
c.56300T>C (p.Phe18767Ser)
c.37916T>C (p.Phe12639Ser)
c.59411T>C (p.Phe19804Ser)
c.59408T>C (p.Phe19803Ser)
c.58841T>C (p.Phe19614Ser)
c.56183T>C (p.Phe18728Ser)
c.56102T>C (p.Phe18701Ser)
c.37865T>C (p.Phe12622Ser)
c.27719T>C (p.Phe9240Ser)
2g.178584671A>TCA349436050TTN,TTN-AS1n.38351T>A (p.Phe12784Tyr)
n.38150T>A (p.Phe12717Tyr)
c.38351T>A (p.Phe12784Tyr)
c.57266T>A (p.Phe19089Tyr)
c.38150T>A (p.Phe12717Tyr)
c.37775T>A (p.Phe12592Tyr)
c.64970T>A (p.Phe21657Tyr)
c.60047T>A (p.Phe20016Tyr)
n.597-12925A>T
n.2866A>T
c.64067T>A (p.Phe21356Tyr)
c.37961T>A (p.Phe12654Tyr)
c.37820T>A (p.Phe12607Tyr)
c.63863T>A (p.Phe21288Tyr)
c.59261T>A (p.Phe19754Tyr)
c.59258T>A (p.Phe19753Tyr)
c.56300T>A (p.Phe18767Tyr)
c.37916T>A (p.Phe12639Tyr)
c.59411T>A (p.Phe19804Tyr)
c.59408T>A (p.Phe19803Tyr)
c.58841T>A (p.Phe19614Tyr)
c.56183T>A (p.Phe18728Tyr)
c.56102T>A (p.Phe18701Tyr)
c.37865T>A (p.Phe12622Tyr)
c.27719T>A (p.Phe9240Tyr)
2g.178584672A=CA1310537120TTN,TTN-AS1n.38350T= (p.Phe12784=)
n.38149T= (p.Phe12717=)
c.38350T= (p.Phe12784=)
c.57265T= (p.Phe19089=)
c.38149T= (p.Phe12717=)
c.37774T= (p.Phe12592=)
c.64969T= (p.Phe21657=)
c.60046T= (p.Phe20016=)
n.597-12924A=
n.2867A=
c.64066T= (p.Phe21356=)
c.37960T= (p.Phe12654=)
c.37819T= (p.Phe12607=)
c.63862T= (p.Phe21288=)
c.59260T= (p.Phe19754=)
c.59257T= (p.Phe19753=)
c.56299T= (p.Phe18767=)
c.37915T= (p.Phe12639=)
c.59410T= (p.Phe19804=)
c.59407T= (p.Phe19803=)
c.58840T= (p.Phe19614=)
c.56182T= (p.Phe18728=)
c.56101T= (p.Phe18701=)
c.37864T= (p.Phe12622=)
c.27718T= (p.Phe9240=)
2g.178584672A>CCA1991811TTN,TTN-AS1n.38350T>G (p.Phe12784Val)
n.38149T>G (p.Phe12717Val)
c.38350T>G (p.Phe12784Val)
c.57265T>G (p.Phe19089Val)
c.38149T>G (p.Phe12717Val)
c.37774T>G (p.Phe12592Val)
c.64969T>G (p.Phe21657Val)
c.60046T>G (p.Phe20016Val)
n.597-12924A>C
n.2867A>C
c.64066T>G (p.Phe21356Val)
c.37960T>G (p.Phe12654Val)
c.37819T>G (p.Phe12607Val)
c.63862T>G (p.Phe21288Val)
c.59260T>G (p.Phe19754Val)
c.59257T>G (p.Phe19753Val)
c.56299T>G (p.Phe18767Val)
c.37915T>G (p.Phe12639Val)
c.59410T>G (p.Phe19804Val)
c.59407T>G (p.Phe19803Val)
c.58840T>G (p.Phe19614Val)
c.56182T>G (p.Phe18728Val)
c.56101T>G (p.Phe18701Val)
c.37864T>G (p.Phe12622Val)
c.27718T>G (p.Phe9240Val)
dbSNP ExAC gnomAD
2g.178584672A>GCA349436053TTN,TTN-AS1n.38350T>C (p.Phe12784Leu)
n.38149T>C (p.Phe12717Leu)
c.38350T>C (p.Phe12784Leu)
c.57265T>C (p.Phe19089Leu)
c.38149T>C (p.Phe12717Leu)
c.37774T>C (p.Phe12592Leu)
c.64969T>C (p.Phe21657Leu)
c.60046T>C (p.Phe20016Leu)
n.597-12924A>G
n.2867A>G
c.64066T>C (p.Phe21356Leu)
c.37960T>C (p.Phe12654Leu)
c.37819T>C (p.Phe12607Leu)
c.63862T>C (p.Phe21288Leu)
c.59260T>C (p.Phe19754Leu)
c.59257T>C (p.Phe19753Leu)
c.56299T>C (p.Phe18767Leu)
c.37915T>C (p.Phe12639Leu)
c.59410T>C (p.Phe19804Leu)
c.59407T>C (p.Phe19803Leu)
c.58840T>C (p.Phe19614Leu)
c.56182T>C (p.Phe18728Leu)
c.56101T>C (p.Phe18701Leu)
c.37864T>C (p.Phe12622Leu)
c.27718T>C (p.Phe9240Leu)
2g.178584672A>TCA349436055TTN,TTN-AS1n.38350T>A (p.Phe12784Ile)
n.38149T>A (p.Phe12717Ile)
c.38350T>A (p.Phe12784Ile)
c.57265T>A (p.Phe19089Ile)
c.38149T>A (p.Phe12717Ile)
c.37774T>A (p.Phe12592Ile)
c.64969T>A (p.Phe21657Ile)
c.60046T>A (p.Phe20016Ile)
n.597-12924A>T
n.2867A>T
c.64066T>A (p.Phe21356Ile)
c.37960T>A (p.Phe12654Ile)
c.37819T>A (p.Phe12607Ile)
c.63862T>A (p.Phe21288Ile)
c.59260T>A (p.Phe19754Ile)
c.59257T>A (p.Phe19753Ile)
c.56299T>A (p.Phe18767Ile)
c.37915T>A (p.Phe12639Ile)
c.59410T>A (p.Phe19804Ile)
c.59407T>A (p.Phe19803Ile)
c.58840T>A (p.Phe19614Ile)
c.56182T>A (p.Phe18728Ile)
c.56101T>A (p.Phe18701Ile)
c.37864T>A (p.Phe12622Ile)
c.27718T>A (p.Phe9240Ile)
2g.178584673T>ACA430264044TTN,TTN-AS1n.38349A>T (p.Pro12783=)
n.38148A>T (p.Pro12716=)
c.38349A>T (p.Pro12783=)
c.57264A>T (p.Pro19088=)
c.38148A>T (p.Pro12716=)
c.37773A>T (p.Pro12591=)
c.64968A>T (p.Pro21656=)
c.60045A>T (p.Pro20015=)
n.597-12923T>A
n.2868T>A
c.64065A>T (p.Pro21355=)
c.37959A>T (p.Pro12653=)
c.37818A>T (p.Pro12606=)
c.63861A>T (p.Pro21287=)
c.59259A>T (p.Pro19753=)
c.59256A>T (p.Pro19752=)
c.56298A>T (p.Pro18766=)
c.37914A>T (p.Pro12638=)
c.59409A>T (p.Pro19803=)
c.59406A>T (p.Pro19802=)
c.58839A>T (p.Pro19613=)
c.56181A>T (p.Pro18727=)
c.56100A>T (p.Pro18700=)
c.37863A>T (p.Pro12621=)
c.27717A>T (p.Pro9239=)
2g.178584673T>CCA1991812TTN,TTN-AS1n.38349A>G (p.Pro12783=)
n.38148A>G (p.Pro12716=)
c.38349A>G (p.Pro12783=)
c.57264A>G (p.Pro19088=)
c.38148A>G (p.Pro12716=)
c.37773A>G (p.Pro12591=)
c.64968A>G (p.Pro21656=)
c.60045A>G (p.Pro20015=)
n.597-12923T>C
n.2868T>C
c.64065A>G (p.Pro21355=)
c.37959A>G (p.Pro12653=)
c.37818A>G (p.Pro12606=)
c.63861A>G (p.Pro21287=)
c.59259A>G (p.Pro19753=)
c.59256A>G (p.Pro19752=)
c.56298A>G (p.Pro18766=)
c.37914A>G (p.Pro12638=)
c.59409A>G (p.Pro19803=)
c.59406A>G (p.Pro19802=)
c.58839A>G (p.Pro19613=)
c.56181A>G (p.Pro18727=)
c.56100A>G (p.Pro18700=)
c.37863A>G (p.Pro12621=)
c.27717A>G (p.Pro9239=)
ClinVar dbSNP ExAC gnomAD
2g.178584673T>GCA430264047TTN,TTN-AS1n.38349A>C (p.Pro12783=)
n.38148A>C (p.Pro12716=)
c.38349A>C (p.Pro12783=)
c.57264A>C (p.Pro19088=)
c.38148A>C (p.Pro12716=)
c.37773A>C (p.Pro12591=)
c.64968A>C (p.Pro21656=)
c.60045A>C (p.Pro20015=)
n.597-12923T>G
n.2868T>G
c.64065A>C (p.Pro21355=)
c.37959A>C (p.Pro12653=)
c.37818A>C (p.Pro12606=)
c.63861A>C (p.Pro21287=)
c.59259A>C (p.Pro19753=)
c.59256A>C (p.Pro19752=)
c.56298A>C (p.Pro18766=)
c.37914A>C (p.Pro12638=)
c.59409A>C (p.Pro19803=)
c.59406A>C (p.Pro19802=)
c.58839A>C (p.Pro19613=)
c.56181A>C (p.Pro18727=)
c.56100A>C (p.Pro18700=)
c.37863A>C (p.Pro12621=)
c.27717A>C (p.Pro9239=)
2g.178584673T=CA1310537121TTN,TTN-AS1n.38349A= (p.Pro12783=)
n.38148A= (p.Pro12716=)
c.38349A= (p.Pro12783=)
c.57264A= (p.Pro19088=)
c.38148A= (p.Pro12716=)
c.37773A= (p.Pro12591=)
c.64968A= (p.Pro21656=)
c.60045A= (p.Pro20015=)
n.597-12923T=
n.2868T=
c.64065A= (p.Pro21355=)
c.37959A= (p.Pro12653=)
c.37818A= (p.Pro12606=)
c.63861A= (p.Pro21287=)
c.59259A= (p.Pro19753=)
c.59256A= (p.Pro19752=)
c.56298A= (p.Pro18766=)
c.37914A= (p.Pro12638=)
c.59409A= (p.Pro19803=)
c.59406A= (p.Pro19802=)
c.58839A= (p.Pro19613=)
c.56181A= (p.Pro18727=)
c.56100A= (p.Pro18700=)
c.37863A= (p.Pro12621=)
c.27717A= (p.Pro9239=)
2g.178584674G>ACA349436060TTN,TTN-AS1n.38348C>T (p.Pro12783Leu)
n.38147C>T (p.Pro12716Leu)
c.38348C>T (p.Pro12783Leu)
c.57263C>T (p.Pro19088Leu)
c.38147C>T (p.Pro12716Leu)
c.37772C>T (p.Pro12591Leu)
c.64967C>T (p.Pro21656Leu)
c.60044C>T (p.Pro20015Leu)
n.597-12922G>A
n.2869G>A
c.64064C>T (p.Pro21355Leu)
c.37958C>T (p.Pro12653Leu)
c.37817C>T (p.Pro12606Leu)
c.63860C>T (p.Pro21287Leu)
c.59258C>T (p.Pro19753Leu)
c.59255C>T (p.Pro19752Leu)
c.56297C>T (p.Pro18766Leu)
c.37913C>T (p.Pro12638Leu)
c.59408C>T (p.Pro19803Leu)
c.59405C>T (p.Pro19802Leu)
c.58838C>T (p.Pro19613Leu)
c.56180C>T (p.Pro18727Leu)
c.56099C>T (p.Pro18700Leu)
c.37862C>T (p.Pro12621Leu)
c.27716C>T (p.Pro9239Leu)
2g.178584674G>CCA349436059TTN,TTN-AS1n.38348C>G (p.Pro12783Arg)
n.38147C>G (p.Pro12716Arg)
c.38348C>G (p.Pro12783Arg)
c.57263C>G (p.Pro19088Arg)
c.38147C>G (p.Pro12716Arg)
c.37772C>G (p.Pro12591Arg)
c.64967C>G (p.Pro21656Arg)
c.60044C>G (p.Pro20015Arg)
n.597-12922G>C
n.2869G>C
c.64064C>G (p.Pro21355Arg)
c.37958C>G (p.Pro12653Arg)
c.37817C>G (p.Pro12606Arg)
c.63860C>G (p.Pro21287Arg)
c.59258C>G (p.Pro19753Arg)
c.59255C>G (p.Pro19752Arg)
c.56297C>G (p.Pro18766Arg)
c.37913C>G (p.Pro12638Arg)
c.59408C>G (p.Pro19803Arg)
c.59405C>G (p.Pro19802Arg)
c.58838C>G (p.Pro19613Arg)
c.56180C>G (p.Pro18727Arg)
c.56099C>G (p.Pro18700Arg)
c.37862C>G (p.Pro12621Arg)
c.27716C>G (p.Pro9239Arg)
2g.178584674G>TCA349436062TTN,TTN-AS1n.38348C>A (p.Pro12783Gln)
n.38147C>A (p.Pro12716Gln)
c.38348C>A (p.Pro12783Gln)
c.57263C>A (p.Pro19088Gln)
c.38147C>A (p.Pro12716Gln)
c.37772C>A (p.Pro12591Gln)
c.64967C>A (p.Pro21656Gln)
c.60044C>A (p.Pro20015Gln)
n.597-12922G>T
n.2869G>T
c.64064C>A (p.Pro21355Gln)
c.37958C>A (p.Pro12653Gln)
c.37817C>A (p.Pro12606Gln)
c.63860C>A (p.Pro21287Gln)
c.59258C>A (p.Pro19753Gln)
c.59255C>A (p.Pro19752Gln)
c.56297C>A (p.Pro18766Gln)
c.37913C>A (p.Pro12638Gln)
c.59408C>A (p.Pro19803Gln)
c.59405C>A (p.Pro19802Gln)
c.58838C>A (p.Pro19613Gln)
c.56180C>A (p.Pro18727Gln)
c.56099C>A (p.Pro18700Gln)
c.37862C>A (p.Pro12621Gln)
c.27716C>A (p.Pro9239Gln)
2g.178584675G>ACA349436063TTN,TTN-AS1n.38347C>T (p.Pro12783Ser)
n.38146C>T (p.Pro12716Ser)
c.38347C>T (p.Pro12783Ser)
c.57262C>T (p.Pro19088Ser)
c.38146C>T (p.Pro12716Ser)
c.37771C>T (p.Pro12591Ser)
c.64966C>T (p.Pro21656Ser)
c.60043C>T (p.Pro20015Ser)
n.597-12921G>A
n.2870G>A
c.64063C>T (p.Pro21355Ser)
c.37957C>T (p.Pro12653Ser)
c.37816C>T (p.Pro12606Ser)
c.63859C>T (p.Pro21287Ser)
c.59257C>T (p.Pro19753Ser)
c.59254C>T (p.Pro19752Ser)
c.56296C>T (p.Pro18766Ser)
c.37912C>T (p.Pro12638Ser)
c.59407C>T (p.Pro19803Ser)
c.59404C>T (p.Pro19802Ser)
c.58837C>T (p.Pro19613Ser)
c.56179C>T (p.Pro18727Ser)
c.56098C>T (p.Pro18700Ser)
c.37861C>T (p.Pro12621Ser)
c.27715C>T (p.Pro9239Ser)
2g.178584675G>CCA349436065TTN,TTN-AS1n.38347C>G (p.Pro12783Ala)
n.38146C>G (p.Pro12716Ala)
c.38347C>G (p.Pro12783Ala)
c.57262C>G (p.Pro19088Ala)
c.38146C>G (p.Pro12716Ala)
c.37771C>G (p.Pro12591Ala)
c.64966C>G (p.Pro21656Ala)
c.60043C>G (p.Pro20015Ala)
n.597-12921G>C
n.2870G>C
c.64063C>G (p.Pro21355Ala)
c.37957C>G (p.Pro12653Ala)
c.37816C>G (p.Pro12606Ala)
c.63859C>G (p.Pro21287Ala)
c.59257C>G (p.Pro19753Ala)
c.59254C>G (p.Pro19752Ala)
c.56296C>G (p.Pro18766Ala)
c.37912C>G (p.Pro12638Ala)
c.59407C>G (p.Pro19803Ala)
c.59404C>G (p.Pro19802Ala)
c.58837C>G (p.Pro19613Ala)
c.56179C>G (p.Pro18727Ala)
c.56098C>G (p.Pro18700Ala)
c.37861C>G (p.Pro12621Ala)
c.27715C>G (p.Pro9239Ala)
2g.178584675G>TCA349436064TTN,TTN-AS1n.38347C>A (p.Pro12783Thr)
n.38146C>A (p.Pro12716Thr)
c.38347C>A (p.Pro12783Thr)
c.57262C>A (p.Pro19088Thr)
c.38146C>A (p.Pro12716Thr)
c.37771C>A (p.Pro12591Thr)
c.64966C>A (p.Pro21656Thr)
c.60043C>A (p.Pro20015Thr)
n.597-12921G>T
n.2870G>T
c.64063C>A (p.Pro21355Thr)
c.37957C>A (p.Pro12653Thr)
c.37816C>A (p.Pro12606Thr)
c.63859C>A (p.Pro21287Thr)
c.59257C>A (p.Pro19753Thr)
c.59254C>A (p.Pro19752Thr)
c.56296C>A (p.Pro18766Thr)
c.37912C>A (p.Pro12638Thr)
c.59407C>A (p.Pro19803Thr)
c.59404C>A (p.Pro19802Thr)
c.58837C>A (p.Pro19613Thr)
c.56179C>A (p.Pro18727Thr)
c.56098C>A (p.Pro18700Thr)
c.37861C>A (p.Pro12621Thr)
c.27715C>A (p.Pro9239Thr)
2g.178584676G>ACA430264052TTN,TTN-AS1n.38346C>T (p.Phe12782=)
n.38145C>T (p.Phe12715=)
c.38346C>T (p.Phe12782=)
c.57261C>T (p.Phe19087=)
c.38145C>T (p.Phe12715=)
c.37770C>T (p.Phe12590=)
c.64965C>T (p.Phe21655=)
c.60042C>T (p.Phe20014=)
n.597-12920G>A
n.2871G>A
c.64062C>T (p.Phe21354=)
c.37956C>T (p.Phe12652=)
c.37815C>T (p.Phe12605=)
c.63858C>T (p.Phe21286=)
c.59256C>T (p.Phe19752=)
c.59253C>T (p.Phe19751=)
c.56295C>T (p.Phe18765=)
c.37911C>T (p.Phe12637=)
c.59406C>T (p.Phe19802=)
c.59403C>T (p.Phe19801=)
c.58836C>T (p.Phe19612=)
c.56178C>T (p.Phe18726=)
c.56097C>T (p.Phe18699=)
c.37860C>T (p.Phe12620=)
c.27714C>T (p.Phe9238=)
2g.178584676G>CCA10611629TTN,TTN-AS1n.38346C>G (p.Phe12782Leu)
n.38145C>G (p.Phe12715Leu)
c.38346C>G (p.Phe12782Leu)
c.57261C>G (p.Phe19087Leu)
c.38145C>G (p.Phe12715Leu)
c.37770C>G (p.Phe12590Leu)
c.64965C>G (p.Phe21655Leu)
c.60042C>G (p.Phe20014Leu)
n.597-12920G>C
n.2871G>C
c.64062C>G (p.Phe21354Leu)
c.37956C>G (p.Phe12652Leu)
c.37815C>G (p.Phe12605Leu)
c.63858C>G (p.Phe21286Leu)
c.59256C>G (p.Phe19752Leu)
c.59253C>G (p.Phe19751Leu)
c.56295C>G (p.Phe18765Leu)
c.37911C>G (p.Phe12637Leu)
c.59406C>G (p.Phe19802Leu)
c.59403C>G (p.Phe19801Leu)
c.58836C>G (p.Phe19612Leu)
c.56178C>G (p.Phe18726Leu)
c.56097C>G (p.Phe18699Leu)
c.37860C>G (p.Phe12620Leu)
c.27714C>G (p.Phe9238Leu)
ClinVar dbSNP
2g.178584676G=CA1310537122TTN,TTN-AS1n.38346C= (p.Phe12782=)
n.38145C= (p.Phe12715=)
c.38346C= (p.Phe12782=)
c.57261C= (p.Phe19087=)
c.38145C= (p.Phe12715=)
c.37770C= (p.Phe12590=)
c.64965C= (p.Phe21655=)
c.60042C= (p.Phe20014=)
n.597-12920G=
n.2871G=
c.64062C= (p.Phe21354=)
c.37956C= (p.Phe12652=)
c.37815C= (p.Phe12605=)
c.63858C= (p.Phe21286=)
c.59256C= (p.Phe19752=)
c.59253C= (p.Phe19751=)
c.56295C= (p.Phe18765=)
c.37911C= (p.Phe12637=)
c.59406C= (p.Phe19802=)
c.59403C= (p.Phe19801=)
c.58836C= (p.Phe19612=)
c.56178C= (p.Phe18726=)
c.56097C= (p.Phe18699=)
c.37860C= (p.Phe12620=)
c.27714C= (p.Phe9238=)
2g.178584676G>TCA349436068TTN,TTN-AS1n.38346C>A (p.Phe12782Leu)
n.38145C>A (p.Phe12715Leu)
c.38346C>A (p.Phe12782Leu)
c.57261C>A (p.Phe19087Leu)
c.38145C>A (p.Phe12715Leu)
c.37770C>A (p.Phe12590Leu)
c.64965C>A (p.Phe21655Leu)
c.60042C>A (p.Phe20014Leu)
n.597-12920G>T
n.2871G>T
c.64062C>A (p.Phe21354Leu)
c.37956C>A (p.Phe12652Leu)
c.37815C>A (p.Phe12605Leu)
c.63858C>A (p.Phe21286Leu)
c.59256C>A (p.Phe19752Leu)
c.59253C>A (p.Phe19751Leu)
c.56295C>A (p.Phe18765Leu)
c.37911C>A (p.Phe12637Leu)
c.59406C>A (p.Phe19802Leu)
c.59403C>A (p.Phe19801Leu)
c.58836C>A (p.Phe19612Leu)
c.56178C>A (p.Phe18726Leu)
c.56097C>A (p.Phe18699Leu)
c.37860C>A (p.Phe12620Leu)
c.27714C>A (p.Phe9238Leu)
2g.178584677A>CCA349436071TTN,TTN-AS1n.38345T>G (p.Phe12782Cys)
n.38144T>G (p.Phe12715Cys)
c.38345T>G (p.Phe12782Cys)
c.57260T>G (p.Phe19087Cys)
c.38144T>G (p.Phe12715Cys)
c.37769T>G (p.Phe12590Cys)
c.64964T>G (p.Phe21655Cys)
c.60041T>G (p.Phe20014Cys)
n.597-12919A>C
n.2872A>C
c.64061T>G (p.Phe21354Cys)
c.37955T>G (p.Phe12652Cys)
c.37814T>G (p.Phe12605Cys)
c.63857T>G (p.Phe21286Cys)
c.59255T>G (p.Phe19752Cys)
c.59252T>G (p.Phe19751Cys)
c.56294T>G (p.Phe18765Cys)
c.37910T>G (p.Phe12637Cys)
c.59405T>G (p.Phe19802Cys)
c.59402T>G (p.Phe19801Cys)
c.58835T>G (p.Phe19612Cys)
c.56177T>G (p.Phe18726Cys)
c.56096T>G (p.Phe18699Cys)
c.37859T>G (p.Phe12620Cys)
c.27713T>G (p.Phe9238Cys)
2g.178584677A>GCA349436073TTN,TTN-AS1n.38345T>C (p.Phe12782Ser)
n.38144T>C (p.Phe12715Ser)
c.38345T>C (p.Phe12782Ser)
c.57260T>C (p.Phe19087Ser)
c.38144T>C (p.Phe12715Ser)
c.37769T>C (p.Phe12590Ser)
c.64964T>C (p.Phe21655Ser)
c.60041T>C (p.Phe20014Ser)
n.597-12919A>G
n.2872A>G
c.64061T>C (p.Phe21354Ser)
c.37955T>C (p.Phe12652Ser)
c.37814T>C (p.Phe12605Ser)
c.63857T>C (p.Phe21286Ser)
c.59255T>C (p.Phe19752Ser)
c.59252T>C (p.Phe19751Ser)
c.56294T>C (p.Phe18765Ser)
c.37910T>C (p.Phe12637Ser)
c.59405T>C (p.Phe19802Ser)
c.59402T>C (p.Phe19801Ser)
c.58835T>C (p.Phe19612Ser)
c.56177T>C (p.Phe18726Ser)
c.56096T>C (p.Phe18699Ser)
c.37859T>C (p.Phe12620Ser)
c.27713T>C (p.Phe9238Ser)
2g.178584677A>TCA349436074TTN,TTN-AS1n.38345T>A (p.Phe12782Tyr)
n.38144T>A (p.Phe12715Tyr)
c.38345T>A (p.Phe12782Tyr)
c.57260T>A (p.Phe19087Tyr)
c.38144T>A (p.Phe12715Tyr)
c.37769T>A (p.Phe12590Tyr)
c.64964T>A (p.Phe21655Tyr)
c.60041T>A (p.Phe20014Tyr)
n.597-12919A>T
n.2872A>T
c.64061T>A (p.Phe21354Tyr)
c.37955T>A (p.Phe12652Tyr)
c.37814T>A (p.Phe12605Tyr)
c.63857T>A (p.Phe21286Tyr)
c.59255T>A (p.Phe19752Tyr)
c.59252T>A (p.Phe19751Tyr)
c.56294T>A (p.Phe18765Tyr)
c.37910T>A (p.Phe12637Tyr)
c.59405T>A (p.Phe19802Tyr)
c.59402T>A (p.Phe19801Tyr)
c.58835T>A (p.Phe19612Tyr)
c.56177T>A (p.Phe18726Tyr)
c.56096T>A (p.Phe18699Tyr)
c.37859T>A (p.Phe12620Tyr)
c.27713T>A (p.Phe9238Tyr)
2g.178584678A>CCA349436078TTN,TTN-AS1n.38344T>G (p.Phe12782Val)
n.38143T>G (p.Phe12715Val)
c.38344T>G (p.Phe12782Val)
c.57259T>G (p.Phe19087Val)
c.38143T>G (p.Phe12715Val)
c.37768T>G (p.Phe12590Val)
c.64963T>G (p.Phe21655Val)
c.60040T>G (p.Phe20014Val)
n.597-12918A>C
n.2873A>C
c.64060T>G (p.Phe21354Val)
c.37954T>G (p.Phe12652Val)
c.37813T>G (p.Phe12605Val)
c.63856T>G (p.Phe21286Val)
c.59254T>G (p.Phe19752Val)
c.59251T>G (p.Phe19751Val)
c.56293T>G (p.Phe18765Val)
c.37909T>G (p.Phe12637Val)
c.59404T>G (p.Phe19802Val)
c.59401T>G (p.Phe19801Val)
c.58834T>G (p.Phe19612Val)
c.56176T>G (p.Phe18726Val)
c.56095T>G (p.Phe18699Val)
c.37858T>G (p.Phe12620Val)
c.27712T>G (p.Phe9238Val)
2g.178584678A>GCA349436079TTN,TTN-AS1n.38344T>C (p.Phe12782Leu)
n.38143T>C (p.Phe12715Leu)
c.38344T>C (p.Phe12782Leu)
c.57259T>C (p.Phe19087Leu)
c.38143T>C (p.Phe12715Leu)
c.37768T>C (p.Phe12590Leu)
c.64963T>C (p.Phe21655Leu)
c.60040T>C (p.Phe20014Leu)
n.597-12918A>G
n.2873A>G
c.64060T>C (p.Phe21354Leu)
c.37954T>C (p.Phe12652Leu)
c.37813T>C (p.Phe12605Leu)
c.63856T>C (p.Phe21286Leu)
c.59254T>C (p.Phe19752Leu)
c.59251T>C (p.Phe19751Leu)
c.56293T>C (p.Phe18765Leu)
c.37909T>C (p.Phe12637Leu)
c.59404T>C (p.Phe19802Leu)
c.59401T>C (p.Phe19801Leu)
c.58834T>C (p.Phe19612Leu)
c.56176T>C (p.Phe18726Leu)
c.56095T>C (p.Phe18699Leu)
c.37858T>C (p.Phe12620Leu)
c.27712T>C (p.Phe9238Leu)
2g.178584678A>TCA349436080TTN,TTN-AS1n.38344T>A (p.Phe12782Ile)
n.38143T>A (p.Phe12715Ile)
c.38344T>A (p.Phe12782Ile)
c.57259T>A (p.Phe19087Ile)
c.38143T>A (p.Phe12715Ile)
c.37768T>A (p.Phe12590Ile)
c.64963T>A (p.Phe21655Ile)
c.60040T>A (p.Phe20014Ile)
n.597-12918A>T
n.2873A>T
c.64060T>A (p.Phe21354Ile)
c.37954T>A (p.Phe12652Ile)
c.37813T>A (p.Phe12605Ile)
c.63856T>A (p.Phe21286Ile)
c.59254T>A (p.Phe19752Ile)
c.59251T>A (p.Phe19751Ile)
c.56293T>A (p.Phe18765Ile)
c.37909T>A (p.Phe12637Ile)
c.59404T>A (p.Phe19802Ile)
c.59401T>A (p.Phe19801Ile)
c.58834T>A (p.Phe19612Ile)
c.56176T>A (p.Phe18726Ile)
c.56095T>A (p.Phe18699Ile)
c.37858T>A (p.Phe12620Ile)
c.27712T>A (p.Phe9238Ile)
2g.178584679C>ACA349436082TTN,TTN-AS1n.38343G>T (p.Gln12781His)
n.38142G>T (p.Gln12714His)
c.38343G>T (p.Gln12781His)
c.57258G>T (p.Gln19086His)
c.38142G>T (p.Gln12714His)
c.37767G>T (p.Gln12589His)
c.64962G>T (p.Gln21654His)
c.60039G>T (p.Gln20013His)
n.597-12917C>A
n.2874C>A
c.64059G>T (p.Gln21353His)
c.37953G>T (p.Gln12651His)
c.37812G>T (p.Gln12604His)
c.63855G>T (p.Gln21285His)
c.59253G>T (p.Gln19751His)
c.59250G>T (p.Gln19750His)
c.56292G>T (p.Gln18764His)
c.37908G>T (p.Gln12636His)
c.59403G>T (p.Gln19801His)
c.59400G>T (p.Gln19800His)
c.58833G>T (p.Gln19611His)
c.56175G>T (p.Gln18725His)
c.56094G>T (p.Gln18698His)
c.37857G>T (p.Gln12619His)
c.27711G>T (p.Gln9237His)
2g.178584679C>GCA349436083TTN,TTN-AS1n.38343G>C (p.Gln12781His)
n.38142G>C (p.Gln12714His)
c.38343G>C (p.Gln12781His)
c.57258G>C (p.Gln19086His)
c.38142G>C (p.Gln12714His)
c.37767G>C (p.Gln12589His)
c.64962G>C (p.Gln21654His)
c.60039G>C (p.Gln20013His)
n.597-12917C>G
n.2874C>G
c.64059G>C (p.Gln21353His)
c.37953G>C (p.Gln12651His)
c.37812G>C (p.Gln12604His)
c.63855G>C (p.Gln21285His)
c.59253G>C (p.Gln19751His)
c.59250G>C (p.Gln19750His)
c.56292G>C (p.Gln18764His)
c.37908G>C (p.Gln12636His)
c.59403G>C (p.Gln19801His)
c.59400G>C (p.Gln19800His)
c.58833G>C (p.Gln19611His)
c.56175G>C (p.Gln18725His)
c.56094G>C (p.Gln18698His)
c.37857G>C (p.Gln12619His)
c.27711G>C (p.Gln9237His)
2g.178584679C>TCA430264060TTN,TTN-AS1n.38343G>A (p.Gln12781=)
n.38142G>A (p.Gln12714=)
c.38343G>A (p.Gln12781=)
c.57258G>A (p.Gln19086=)
c.38142G>A (p.Gln12714=)
c.37767G>A (p.Gln12589=)
c.64962G>A (p.Gln21654=)
c.60039G>A (p.Gln20013=)
n.597-12917C>T
n.2874C>T
c.64059G>A (p.Gln21353=)
c.37953G>A (p.Gln12651=)
c.37812G>A (p.Gln12604=)
c.63855G>A (p.Gln21285=)
c.59253G>A (p.Gln19751=)
c.59250G>A (p.Gln19750=)
c.56292G>A (p.Gln18764=)
c.37908G>A (p.Gln12636=)
c.59403G>A (p.Gln19801=)
c.59400G>A (p.Gln19800=)
c.58833G>A (p.Gln19611=)
c.56175G>A (p.Gln18725=)
c.56094G>A (p.Gln18698=)
c.37857G>A (p.Gln12619=)
c.27711G>A (p.Gln9237=)
2g.178584680T>ACA349436085TTN,TTN-AS1n.38342A>T (p.Gln12781Leu)
n.38141A>T (p.Gln12714Leu)
c.38342A>T (p.Gln12781Leu)
c.57257A>T (p.Gln19086Leu)
c.38141A>T (p.Gln12714Leu)
c.37766A>T (p.Gln12589Leu)
c.64961A>T (p.Gln21654Leu)
c.60038A>T (p.Gln20013Leu)
n.597-12916T>A
n.2875T>A
c.64058A>T (p.Gln21353Leu)
c.37952A>T (p.Gln12651Leu)
c.37811A>T (p.Gln12604Leu)
c.63854A>T (p.Gln21285Leu)
c.59252A>T (p.Gln19751Leu)
c.59249A>T (p.Gln19750Leu)
c.56291A>T (p.Gln18764Leu)
c.37907A>T (p.Gln12636Leu)
c.59402A>T (p.Gln19801Leu)
c.59399A>T (p.Gln19800Leu)
c.58832A>T (p.Gln19611Leu)
c.56174A>T (p.Gln18725Leu)
c.56093A>T (p.Gln18698Leu)
c.37856A>T (p.Gln12619Leu)
c.27710A>T (p.Gln9237Leu)
2g.178584680T>CCA1991813TTN,TTN-AS1n.38342A>G (p.Gln12781Arg)
n.38141A>G (p.Gln12714Arg)
c.38342A>G (p.Gln12781Arg)
c.57257A>G (p.Gln19086Arg)
c.38141A>G (p.Gln12714Arg)
c.37766A>G (p.Gln12589Arg)
c.64961A>G (p.Gln21654Arg)
c.60038A>G (p.Gln20013Arg)
n.597-12916T>C
n.2875T>C
c.64058A>G (p.Gln21353Arg)
c.37952A>G (p.Gln12651Arg)
c.37811A>G (p.Gln12604Arg)
c.63854A>G (p.Gln21285Arg)
c.59252A>G (p.Gln19751Arg)
c.59249A>G (p.Gln19750Arg)
c.56291A>G (p.Gln18764Arg)
c.37907A>G (p.Gln12636Arg)
c.59402A>G (p.Gln19801Arg)
c.59399A>G (p.Gln19800Arg)
c.58832A>G (p.Gln19611Arg)
c.56174A>G (p.Gln18725Arg)
c.56093A>G (p.Gln18698Arg)
c.37856A>G (p.Gln12619Arg)
c.27710A>G (p.Gln9237Arg)
dbSNP ExAC gnomAD
2g.178584680T>GCA349436087TTN,TTN-AS1n.38342A>C (p.Gln12781Pro)
n.38141A>C (p.Gln12714Pro)
c.38342A>C (p.Gln12781Pro)
c.57257A>C (p.Gln19086Pro)
c.38141A>C (p.Gln12714Pro)
c.37766A>C (p.Gln12589Pro)
c.64961A>C (p.Gln21654Pro)
c.60038A>C (p.Gln20013Pro)
n.597-12916T>G
n.2875T>G
c.64058A>C (p.Gln21353Pro)
c.37952A>C (p.Gln12651Pro)
c.37811A>C (p.Gln12604Pro)
c.63854A>C (p.Gln21285Pro)
c.59252A>C (p.Gln19751Pro)
c.59249A>C (p.Gln19750Pro)
c.56291A>C (p.Gln18764Pro)
c.37907A>C (p.Gln12636Pro)
c.59402A>C (p.Gln19801Pro)
c.59399A>C (p.Gln19800Pro)
c.58832A>C (p.Gln19611Pro)
c.56174A>C (p.Gln18725Pro)
c.56093A>C (p.Gln18698Pro)
c.37856A>C (p.Gln12619Pro)
c.27710A>C (p.Gln9237Pro)
2g.178584680T=CA1310537123TTN,TTN-AS1n.38342A= (p.Gln12781=)
n.38141A= (p.Gln12714=)
c.38342A= (p.Gln12781=)
c.57257A= (p.Gln19086=)
c.38141A= (p.Gln12714=)
c.37766A= (p.Gln12589=)
c.64961A= (p.Gln21654=)
c.60038A= (p.Gln20013=)
n.597-12916T=
n.2875T=
c.64058A= (p.Gln21353=)
c.37952A= (p.Gln12651=)
c.37811A= (p.Gln12604=)
c.63854A= (p.Gln21285=)
c.59252A= (p.Gln19751=)
c.59249A= (p.Gln19750=)
c.56291A= (p.Gln18764=)
c.37907A= (p.Gln12636=)
c.59402A= (p.Gln19801=)
c.59399A= (p.Gln19800=)
c.58832A= (p.Gln19611=)
c.56174A= (p.Gln18725=)
c.56093A= (p.Gln18698=)
c.37856A= (p.Gln12619=)
c.27710A= (p.Gln9237=)
2g.178584681G>ACA349436092TTN,TTN-AS1n.38341C>T (p.Gln12781Ter)
n.38140C>T (p.Gln12714Ter)
c.38341C>T (p.Gln12781Ter)
c.57256C>T (p.Gln19086Ter)
c.38140C>T (p.Gln12714Ter)
c.37765C>T (p.Gln12589Ter)
c.64960C>T (p.Gln21654Ter)
c.60037C>T (p.Gln20013Ter)
n.597-12915G>A
n.2876G>A
c.64057C>T (p.Gln21353Ter)
c.37951C>T (p.Gln12651Ter)
c.37810C>T (p.Gln12604Ter)
c.63853C>T (p.Gln21285Ter)
c.59251C>T (p.Gln19751Ter)
c.59248C>T (p.Gln19750Ter)
c.56290C>T (p.Gln18764Ter)
c.37906C>T (p.Gln12636Ter)
c.59401C>T (p.Gln19801Ter)
c.59398C>T (p.Gln19800Ter)
c.58831C>T (p.Gln19611Ter)
c.56173C>T (p.Gln18725Ter)
c.56092C>T (p.Gln18698Ter)
c.37855C>T (p.Gln12619Ter)
c.27709C>T (p.Gln9237Ter)
2g.178584681G>CCA349436091TTN,TTN-AS1n.38341C>G (p.Gln12781Glu)
n.38140C>G (p.Gln12714Glu)
c.38341C>G (p.Gln12781Glu)
c.57256C>G (p.Gln19086Glu)
c.38140C>G (p.Gln12714Glu)
c.37765C>G (p.Gln12589Glu)
c.64960C>G (p.Gln21654Glu)
c.60037C>G (p.Gln20013Glu)
n.597-12915G>C
n.2876G>C
c.64057C>G (p.Gln21353Glu)
c.37951C>G (p.Gln12651Glu)
c.37810C>G (p.Gln12604Glu)
c.63853C>G (p.Gln21285Glu)
c.59251C>G (p.Gln19751Glu)
c.59248C>G (p.Gln19750Glu)
c.56290C>G (p.Gln18764Glu)
c.37906C>G (p.Gln12636Glu)
c.59401C>G (p.Gln19801Glu)
c.59398C>G (p.Gln19800Glu)
c.58831C>G (p.Gln19611Glu)
c.56173C>G (p.Gln18725Glu)
c.56092C>G (p.Gln18698Glu)
c.37855C>G (p.Gln12619Glu)
c.27709C>G (p.Gln9237Glu)
2g.178584681G>TCA349436089TTN,TTN-AS1n.38341C>A (p.Gln12781Lys)
n.38140C>A (p.Gln12714Lys)
c.38341C>A (p.Gln12781Lys)
c.57256C>A (p.Gln19086Lys)
c.38140C>A (p.Gln12714Lys)
c.37765C>A (p.Gln12589Lys)
c.64960C>A (p.Gln21654Lys)
c.60037C>A (p.Gln20013Lys)
n.597-12915G>T
n.2876G>T
c.64057C>A (p.Gln21353Lys)
c.37951C>A (p.Gln12651Lys)
c.37810C>A (p.Gln12604Lys)
c.63853C>A (p.Gln21285Lys)
c.59251C>A (p.Gln19751Lys)
c.59248C>A (p.Gln19750Lys)
c.56290C>A (p.Gln18764Lys)
c.37906C>A (p.Gln12636Lys)
c.59401C>A (p.Gln19801Lys)
c.59398C>A (p.Gln19800Lys)
c.58831C>A (p.Gln19611Lys)
c.56173C>A (p.Gln18725Lys)
c.56092C>A (p.Gln18698Lys)
c.37855C>A (p.Gln12619Lys)
c.27709C>A (p.Gln9237Lys)
2g.178584682C>ACA430264065TTN,TTN-AS1n.38340G>T (p.Ala12780=)
n.38139G>T (p.Ala12713=)
c.38340G>T (p.Ala12780=)
c.57255G>T (p.Ala19085=)
c.38139G>T (p.Ala12713=)
c.37764G>T (p.Ala12588=)
c.64959G>T (p.Ala21653=)
c.60036G>T (p.Ala20012=)
n.597-12914C>A
n.2877C>A
c.64056G>T (p.Ala21352=)
c.37950G>T (p.Ala12650=)
c.37809G>T (p.Ala12603=)
c.63852G>T (p.Ala21284=)
c.59250G>T (p.Ala19750=)
c.59247G>T (p.Ala19749=)
c.56289G>T (p.Ala18763=)
c.37905G>T (p.Ala12635=)
c.59400G>T (p.Ala19800=)
c.59397G>T (p.Ala19799=)
c.58830G>T (p.Ala19610=)
c.56172G>T (p.Ala18724=)
c.56091G>T (p.Ala18697=)
c.37854G>T (p.Ala12618=)
c.27708G>T (p.Ala9236=)
2g.178584682C=CA1310537124TTN,TTN-AS1n.38340G= (p.Ala12780=)
n.38139G= (p.Ala12713=)
c.38340G= (p.Ala12780=)
c.57255G= (p.Ala19085=)
c.38139G= (p.Ala12713=)
c.37764G= (p.Ala12588=)
c.64959G= (p.Ala21653=)
c.60036G= (p.Ala20012=)
n.597-12914C=
n.2877C=
c.64056G= (p.Ala21352=)
c.37950G= (p.Ala12650=)
c.37809G= (p.Ala12603=)
c.63852G= (p.Ala21284=)
c.59250G= (p.Ala19750=)
c.59247G= (p.Ala19749=)
c.56289G= (p.Ala18763=)
c.37905G= (p.Ala12635=)
c.59400G= (p.Ala19800=)
c.59397G= (p.Ala19799=)
c.58830G= (p.Ala19610=)
c.56172G= (p.Ala18724=)
c.56091G= (p.Ala18697=)
c.37854G= (p.Ala12618=)
c.27708G= (p.Ala9236=)

Number of alleles fetched