Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178552461G>ACA349510759TTN,TTN-AS1c.82735C>T (p.His27579Tyr)
c.63820C>T (p.His21274Tyr)
c.63619C>T (p.His21207Tyr)
c.63244C>T (p.His21082Tyr)
c.90439C>T (p.His30147Tyr)
c.85516C>T (p.His28506Tyr)
n.447-18839G>A
n.2043+10100G>A
c.89536C>T (p.His29846Tyr)
c.63430C>T (p.His21144Tyr)
c.63289C>T (p.His21097Tyr)
c.89332C>T (p.His29778Tyr)
c.84730C>T (p.His28244Tyr)
c.84727C>T (p.His28243Tyr)
c.81769C>T (p.His27257Tyr)
c.63385C>T (p.His21129Tyr)
c.84880C>T (p.His28294Tyr)
c.84877C>T (p.His28293Tyr)
c.84310C>T (p.His28104Tyr)
c.81652C>T (p.His27218Tyr)
c.81571C>T (p.His27191Tyr)
c.63334C>T (p.His21112Tyr)
c.53188C>T (p.His17730Tyr)
 gnomAD v4
2g.178552461G>CCA349510760TTN,TTN-AS1c.82735C>G (p.His27579Asp)
c.63820C>G (p.His21274Asp)
c.63619C>G (p.His21207Asp)
c.63244C>G (p.His21082Asp)
c.90439C>G (p.His30147Asp)
c.85516C>G (p.His28506Asp)
n.447-18839G>C
n.2043+10100G>C
c.89536C>G (p.His29846Asp)
c.63430C>G (p.His21144Asp)
c.63289C>G (p.His21097Asp)
c.89332C>G (p.His29778Asp)
c.84730C>G (p.His28244Asp)
c.84727C>G (p.His28243Asp)
c.81769C>G (p.His27257Asp)
c.63385C>G (p.His21129Asp)
c.84880C>G (p.His28294Asp)
c.84877C>G (p.His28293Asp)
c.84310C>G (p.His28104Asp)
c.81652C>G (p.His27218Asp)
c.81571C>G (p.His27191Asp)
c.63334C>G (p.His21112Asp)
c.53188C>G (p.His17730Asp)
2g.178552461G>TCA349510761TTN,TTN-AS1c.82735C>A (p.His27579Asn)
c.63820C>A (p.His21274Asn)
c.63619C>A (p.His21207Asn)
c.63244C>A (p.His21082Asn)
c.90439C>A (p.His30147Asn)
c.85516C>A (p.His28506Asn)
n.447-18839G>T
n.2043+10100G>T
c.89536C>A (p.His29846Asn)
c.63430C>A (p.His21144Asn)
c.63289C>A (p.His21097Asn)
c.89332C>A (p.His29778Asn)
c.84730C>A (p.His28244Asn)
c.84727C>A (p.His28243Asn)
c.81769C>A (p.His27257Asn)
c.63385C>A (p.His21129Asn)
c.84880C>A (p.His28294Asn)
c.84877C>A (p.His28293Asn)
c.84310C>A (p.His28104Asn)
c.81652C>A (p.His27218Asn)
c.81571C>A (p.His27191Asn)
c.63334C>A (p.His21112Asn)
c.53188C>A (p.His17730Asn)
2g.178552462C>ACA430245271TTN,TTN-AS1c.82734G>T (p.Gly27578=)
c.63819G>T (p.Gly21273=)
c.63618G>T (p.Gly21206=)
c.63243G>T (p.Gly21081=)
c.90438G>T (p.Gly30146=)
c.85515G>T (p.Gly28505=)
n.447-18838C>A
n.2043+10101C>A
c.89535G>T (p.Gly29845=)
c.63429G>T (p.Gly21143=)
c.63288G>T (p.Gly21096=)
c.89331G>T (p.Gly29777=)
c.84729G>T (p.Gly28243=)
c.84726G>T (p.Gly28242=)
c.81768G>T (p.Gly27256=)
c.63384G>T (p.Gly21128=)
c.84879G>T (p.Gly28293=)
c.84876G>T (p.Gly28292=)
c.84309G>T (p.Gly28103=)
c.81651G>T (p.Gly27217=)
c.81570G>T (p.Gly27190=)
c.63333G>T (p.Gly21111=)
c.53187G>T (p.Gly17729=)
2g.178552462C=CA1310521982TTN,TTN-AS1c.82734G= (p.Gly27578=)
c.63819G= (p.Gly21273=)
c.63618G= (p.Gly21206=)
c.63243G= (p.Gly21081=)
c.90438G= (p.Gly30146=)
c.85515G= (p.Gly28505=)
n.447-18838C=
n.2043+10101C=
c.89535G= (p.Gly29845=)
c.63429G= (p.Gly21143=)
c.63288G= (p.Gly21096=)
c.89331G= (p.Gly29777=)
c.84729G= (p.Gly28243=)
c.84726G= (p.Gly28242=)
c.81768G= (p.Gly27256=)
c.63384G= (p.Gly21128=)
c.84879G= (p.Gly28293=)
c.84876G= (p.Gly28292=)
c.84309G= (p.Gly28103=)
c.81651G= (p.Gly27217=)
c.81570G= (p.Gly27190=)
c.63333G= (p.Gly21111=)
c.53187G= (p.Gly17729=)
2g.178552462C>GCA430245273TTN,TTN-AS1c.82734G>C (p.Gly27578=)
c.63819G>C (p.Gly21273=)
c.63618G>C (p.Gly21206=)
c.63243G>C (p.Gly21081=)
c.90438G>C (p.Gly30146=)
c.85515G>C (p.Gly28505=)
n.447-18838C>G
n.2043+10101C>G
c.89535G>C (p.Gly29845=)
c.63429G>C (p.Gly21143=)
c.63288G>C (p.Gly21096=)
c.89331G>C (p.Gly29777=)
c.84729G>C (p.Gly28243=)
c.84726G>C (p.Gly28242=)
c.81768G>C (p.Gly27256=)
c.63384G>C (p.Gly21128=)
c.84879G>C (p.Gly28293=)
c.84876G>C (p.Gly28292=)
c.84309G>C (p.Gly28103=)
c.81651G>C (p.Gly27217=)
c.81570G>C (p.Gly27190=)
c.63333G>C (p.Gly21111=)
c.53187G>C (p.Gly17729=)
2g.178552462C>TCA430245274TTN,TTN-AS1c.82734G>A (p.Gly27578=)
c.63819G>A (p.Gly21273=)
c.63618G>A (p.Gly21206=)
c.63243G>A (p.Gly21081=)
c.90438G>A (p.Gly30146=)
c.85515G>A (p.Gly28505=)
n.447-18838C>T
n.2043+10101C>T
c.89535G>A (p.Gly29845=)
c.63429G>A (p.Gly21143=)
c.63288G>A (p.Gly21096=)
c.89331G>A (p.Gly29777=)
c.84729G>A (p.Gly28243=)
c.84726G>A (p.Gly28242=)
c.81768G>A (p.Gly27256=)
c.63384G>A (p.Gly21128=)
c.84879G>A (p.Gly28293=)
c.84876G>A (p.Gly28292=)
c.84309G>A (p.Gly28103=)
c.81651G>A (p.Gly27217=)
c.81570G>A (p.Gly27190=)
c.63333G>A (p.Gly21111=)
c.53187G>A (p.Gly17729=)
 dbSNP
2g.178552463C>ACA349510762TTN,TTN-AS1c.82733G>T (p.Gly27578Val)
c.63818G>T (p.Gly21273Val)
c.63617G>T (p.Gly21206Val)
c.63242G>T (p.Gly21081Val)
c.90437G>T (p.Gly30146Val)
c.85514G>T (p.Gly28505Val)
n.447-18837C>A
n.2043+10102C>A
c.89534G>T (p.Gly29845Val)
c.63428G>T (p.Gly21143Val)
c.63287G>T (p.Gly21096Val)
c.89330G>T (p.Gly29777Val)
c.84728G>T (p.Gly28243Val)
c.84725G>T (p.Gly28242Val)
c.81767G>T (p.Gly27256Val)
c.63383G>T (p.Gly21128Val)
c.84878G>T (p.Gly28293Val)
c.84875G>T (p.Gly28292Val)
c.84308G>T (p.Gly28103Val)
c.81650G>T (p.Gly27217Val)
c.81569G>T (p.Gly27190Val)
c.63332G>T (p.Gly21111Val)
c.53186G>T (p.Gly17729Val)
2g.178552463C=CA1310521986TTN,TTN-AS1c.82733G= (p.Gly27578=)
c.63818G= (p.Gly21273=)
c.63617G= (p.Gly21206=)
c.63242G= (p.Gly21081=)
c.90437G= (p.Gly30146=)
c.85514G= (p.Gly28505=)
n.447-18837C=
n.2043+10102C=
c.89534G= (p.Gly29845=)
c.63428G= (p.Gly21143=)
c.63287G= (p.Gly21096=)
c.89330G= (p.Gly29777=)
c.84728G= (p.Gly28243=)
c.84725G= (p.Gly28242=)
c.81767G= (p.Gly27256=)
c.63383G= (p.Gly21128=)
c.84878G= (p.Gly28293=)
c.84875G= (p.Gly28292=)
c.84308G= (p.Gly28103=)
c.81650G= (p.Gly27217=)
c.81569G= (p.Gly27190=)
c.63332G= (p.Gly21111=)
c.53186G= (p.Gly17729=)
2g.178552463C>GCA349510763TTN,TTN-AS1c.82733G>C (p.Gly27578Ala)
c.63818G>C (p.Gly21273Ala)
c.63617G>C (p.Gly21206Ala)
c.63242G>C (p.Gly21081Ala)
c.90437G>C (p.Gly30146Ala)
c.85514G>C (p.Gly28505Ala)
n.447-18837C>G
n.2043+10102C>G
c.89534G>C (p.Gly29845Ala)
c.63428G>C (p.Gly21143Ala)
c.63287G>C (p.Gly21096Ala)
c.89330G>C (p.Gly29777Ala)
c.84728G>C (p.Gly28243Ala)
c.84725G>C (p.Gly28242Ala)
c.81767G>C (p.Gly27256Ala)
c.63383G>C (p.Gly21128Ala)
c.84878G>C (p.Gly28293Ala)
c.84875G>C (p.Gly28292Ala)
c.84308G>C (p.Gly28103Ala)
c.81650G>C (p.Gly27217Ala)
c.81569G>C (p.Gly27190Ala)
c.63332G>C (p.Gly21111Ala)
c.53186G>C (p.Gly17729Ala)
 dbSNP
2g.178552463C>TCA1987790TTN,TTN-AS1c.82733G>A (p.Gly27578Glu)
c.63818G>A (p.Gly21273Glu)
c.63617G>A (p.Gly21206Glu)
c.63242G>A (p.Gly21081Glu)
c.90437G>A (p.Gly30146Glu)
c.85514G>A (p.Gly28505Glu)
n.447-18837C>T
n.2043+10102C>T
c.89534G>A (p.Gly29845Glu)
c.63428G>A (p.Gly21143Glu)
c.63287G>A (p.Gly21096Glu)
c.89330G>A (p.Gly29777Glu)
c.84728G>A (p.Gly28243Glu)
c.84725G>A (p.Gly28242Glu)
c.81767G>A (p.Gly27256Glu)
c.63383G>A (p.Gly21128Glu)
c.84878G>A (p.Gly28293Glu)
c.84875G>A (p.Gly28292Glu)
c.84308G>A (p.Gly28103Glu)
c.81650G>A (p.Gly27217Glu)
c.81569G>A (p.Gly27190Glu)
c.63332G>A (p.Gly21111Glu)
c.53186G>A (p.Gly17729Glu)
 dbSNP ExAC gnomAD v2
2g.178552464C>ACA349510765TTN,TTN-AS1c.82732G>T (p.Gly27578Trp)
c.63817G>T (p.Gly21273Trp)
c.63616G>T (p.Gly21206Trp)
c.63241G>T (p.Gly21081Trp)
c.90436G>T (p.Gly30146Trp)
c.85513G>T (p.Gly28505Trp)
n.447-18836C>A
n.2043+10103C>A
c.89533G>T (p.Gly29845Trp)
c.63427G>T (p.Gly21143Trp)
c.63286G>T (p.Gly21096Trp)
c.89329G>T (p.Gly29777Trp)
c.84727G>T (p.Gly28243Trp)
c.84724G>T (p.Gly28242Trp)
c.81766G>T (p.Gly27256Trp)
c.63382G>T (p.Gly21128Trp)
c.84877G>T (p.Gly28293Trp)
c.84874G>T (p.Gly28292Trp)
c.84307G>T (p.Gly28103Trp)
c.81649G>T (p.Gly27217Trp)
c.81568G>T (p.Gly27190Trp)
c.63331G>T (p.Gly21111Trp)
c.53185G>T (p.Gly17729Trp)
2g.178552464C=CA1310521992TTN,TTN-AS1c.82732G= (p.Gly27578=)
c.63817G= (p.Gly21273=)
c.63616G= (p.Gly21206=)
c.63241G= (p.Gly21081=)
c.90436G= (p.Gly30146=)
c.85513G= (p.Gly28505=)
n.447-18836C=
n.2043+10103C=
c.89533G= (p.Gly29845=)
c.63427G= (p.Gly21143=)
c.63286G= (p.Gly21096=)
c.89329G= (p.Gly29777=)
c.84727G= (p.Gly28243=)
c.84724G= (p.Gly28242=)
c.81766G= (p.Gly27256=)
c.63382G= (p.Gly21128=)
c.84877G= (p.Gly28293=)
c.84874G= (p.Gly28292=)
c.84307G= (p.Gly28103=)
c.81649G= (p.Gly27217=)
c.81568G= (p.Gly27190=)
c.63331G= (p.Gly21111=)
c.53185G= (p.Gly17729=)
2g.178552464C>GCA349510764TTN,TTN-AS1c.82732G>C (p.Gly27578Arg)
c.63817G>C (p.Gly21273Arg)
c.63616G>C (p.Gly21206Arg)
c.63241G>C (p.Gly21081Arg)
c.90436G>C (p.Gly30146Arg)
c.85513G>C (p.Gly28505Arg)
n.447-18836C>G
n.2043+10103C>G
c.89533G>C (p.Gly29845Arg)
c.63427G>C (p.Gly21143Arg)
c.63286G>C (p.Gly21096Arg)
c.89329G>C (p.Gly29777Arg)
c.84727G>C (p.Gly28243Arg)
c.84724G>C (p.Gly28242Arg)
c.81766G>C (p.Gly27256Arg)
c.63382G>C (p.Gly21128Arg)
c.84877G>C (p.Gly28293Arg)
c.84874G>C (p.Gly28292Arg)
c.84307G>C (p.Gly28103Arg)
c.81649G>C (p.Gly27217Arg)
c.81568G>C (p.Gly27190Arg)
c.63331G>C (p.Gly21111Arg)
c.53185G>C (p.Gly17729Arg)
2g.178552464C>TCA1987791TTN,TTN-AS1c.82732G>A (p.Gly27578Arg)
c.63817G>A (p.Gly21273Arg)
c.63616G>A (p.Gly21206Arg)
c.63241G>A (p.Gly21081Arg)
c.90436G>A (p.Gly30146Arg)
c.85513G>A (p.Gly28505Arg)
n.447-18836C>T
n.2043+10103C>T
c.89533G>A (p.Gly29845Arg)
c.63427G>A (p.Gly21143Arg)
c.63286G>A (p.Gly21096Arg)
c.89329G>A (p.Gly29777Arg)
c.84727G>A (p.Gly28243Arg)
c.84724G>A (p.Gly28242Arg)
c.81766G>A (p.Gly27256Arg)
c.63382G>A (p.Gly21128Arg)
c.84877G>A (p.Gly28293Arg)
c.84874G>A (p.Gly28292Arg)
c.84307G>A (p.Gly28103Arg)
c.81649G>A (p.Gly27217Arg)
c.81568G>A (p.Gly27190Arg)
c.63331G>A (p.Gly21111Arg)
c.53185G>A (p.Gly17729Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178552465A>CCA349510769TTN,TTN-AS1c.82731T>G (p.Ile27577Met)
c.63816T>G (p.Ile21272Met)
c.63615T>G (p.Ile21205Met)
c.63240T>G (p.Ile21080Met)
c.90435T>G (p.Ile30145Met)
c.85512T>G (p.Ile28504Met)
n.447-18835A>C
n.2043+10104A>C
c.89532T>G (p.Ile29844Met)
c.63426T>G (p.Ile21142Met)
c.63285T>G (p.Ile21095Met)
c.89328T>G (p.Ile29776Met)
c.84726T>G (p.Ile28242Met)
c.84723T>G (p.Ile28241Met)
c.81765T>G (p.Ile27255Met)
c.63381T>G (p.Ile21127Met)
c.84876T>G (p.Ile28292Met)
c.84873T>G (p.Ile28291Met)
c.84306T>G (p.Ile28102Met)
c.81648T>G (p.Ile27216Met)
c.81567T>G (p.Ile27189Met)
c.63330T>G (p.Ile21110Met)
c.53184T>G (p.Ile17728Met)
2g.178552465A>GCA430245278TTN,TTN-AS1c.82731T>C (p.Ile27577=)
c.63816T>C (p.Ile21272=)
c.63615T>C (p.Ile21205=)
c.63240T>C (p.Ile21080=)
c.90435T>C (p.Ile30145=)
c.85512T>C (p.Ile28504=)
n.447-18835A>G
n.2043+10104A>G
c.89532T>C (p.Ile29844=)
c.63426T>C (p.Ile21142=)
c.63285T>C (p.Ile21095=)
c.89328T>C (p.Ile29776=)
c.84726T>C (p.Ile28242=)
c.84723T>C (p.Ile28241=)
c.81765T>C (p.Ile27255=)
c.63381T>C (p.Ile21127=)
c.84876T>C (p.Ile28292=)
c.84873T>C (p.Ile28291=)
c.84306T>C (p.Ile28102=)
c.81648T>C (p.Ile27216=)
c.81567T>C (p.Ile27189=)
c.63330T>C (p.Ile21110=)
c.53184T>C (p.Ile17728=)
2g.178552465A>TCA430245280TTN,TTN-AS1c.82731T>A (p.Ile27577=)
c.63816T>A (p.Ile21272=)
c.63615T>A (p.Ile21205=)
c.63240T>A (p.Ile21080=)
c.90435T>A (p.Ile30145=)
c.85512T>A (p.Ile28504=)
n.447-18835A>T
n.2043+10104A>T
c.89532T>A (p.Ile29844=)
c.63426T>A (p.Ile21142=)
c.63285T>A (p.Ile21095=)
c.89328T>A (p.Ile29776=)
c.84726T>A (p.Ile28242=)
c.84723T>A (p.Ile28241=)
c.81765T>A (p.Ile27255=)
c.63381T>A (p.Ile21127=)
c.84876T>A (p.Ile28292=)
c.84873T>A (p.Ile28291=)
c.84306T>A (p.Ile28102=)
c.81648T>A (p.Ile27216=)
c.81567T>A (p.Ile27189=)
c.63330T>A (p.Ile21110=)
c.53184T>A (p.Ile17728=)
2g.178552466A=CA1310521995TTN,TTN-AS1c.82730T= (p.Ile27577=)
c.63815T= (p.Ile21272=)
c.63614T= (p.Ile21205=)
c.63239T= (p.Ile21080=)
c.90434T= (p.Ile30145=)
c.85511T= (p.Ile28504=)
n.447-18834A=
n.2043+10105A=
c.89531T= (p.Ile29844=)
c.63425T= (p.Ile21142=)
c.63284T= (p.Ile21095=)
c.89327T= (p.Ile29776=)
c.84725T= (p.Ile28242=)
c.84722T= (p.Ile28241=)
c.81764T= (p.Ile27255=)
c.63380T= (p.Ile21127=)
c.84875T= (p.Ile28292=)
c.84872T= (p.Ile28291=)
c.84305T= (p.Ile28102=)
c.81647T= (p.Ile27216=)
c.81566T= (p.Ile27189=)
c.63329T= (p.Ile21110=)
c.53183T= (p.Ile17728=)
2g.178552466A>CCA349510772TTN,TTN-AS1c.82730T>G (p.Ile27577Ser)
c.63815T>G (p.Ile21272Ser)
c.63614T>G (p.Ile21205Ser)
c.63239T>G (p.Ile21080Ser)
c.90434T>G (p.Ile30145Ser)
c.85511T>G (p.Ile28504Ser)
n.447-18834A>C
n.2043+10105A>C
c.89531T>G (p.Ile29844Ser)
c.63425T>G (p.Ile21142Ser)
c.63284T>G (p.Ile21095Ser)
c.89327T>G (p.Ile29776Ser)
c.84725T>G (p.Ile28242Ser)
c.84722T>G (p.Ile28241Ser)
c.81764T>G (p.Ile27255Ser)
c.63380T>G (p.Ile21127Ser)
c.84875T>G (p.Ile28292Ser)
c.84872T>G (p.Ile28291Ser)
c.84305T>G (p.Ile28102Ser)
c.81647T>G (p.Ile27216Ser)
c.81566T>G (p.Ile27189Ser)
c.63329T>G (p.Ile21110Ser)
c.53183T>G (p.Ile17728Ser)
2g.178552466A>GCA1987792TTN,TTN-AS1c.82730T>C (p.Ile27577Thr)
c.63815T>C (p.Ile21272Thr)
c.63614T>C (p.Ile21205Thr)
c.63239T>C (p.Ile21080Thr)
c.90434T>C (p.Ile30145Thr)
c.85511T>C (p.Ile28504Thr)
n.447-18834A>G
n.2043+10105A>G
c.89531T>C (p.Ile29844Thr)
c.63425T>C (p.Ile21142Thr)
c.63284T>C (p.Ile21095Thr)
c.89327T>C (p.Ile29776Thr)
c.84725T>C (p.Ile28242Thr)
c.84722T>C (p.Ile28241Thr)
c.81764T>C (p.Ile27255Thr)
c.63380T>C (p.Ile21127Thr)
c.84875T>C (p.Ile28292Thr)
c.84872T>C (p.Ile28291Thr)
c.84305T>C (p.Ile28102Thr)
c.81647T>C (p.Ile27216Thr)
c.81566T>C (p.Ile27189Thr)
c.63329T>C (p.Ile21110Thr)
c.53183T>C (p.Ile17728Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178552466A>TCA349510777TTN,TTN-AS1c.82730T>A (p.Ile27577Asn)
c.63815T>A (p.Ile21272Asn)
c.63614T>A (p.Ile21205Asn)
c.63239T>A (p.Ile21080Asn)
c.90434T>A (p.Ile30145Asn)
c.85511T>A (p.Ile28504Asn)
n.447-18834A>T
n.2043+10105A>T
c.89531T>A (p.Ile29844Asn)
c.63425T>A (p.Ile21142Asn)
c.63284T>A (p.Ile21095Asn)
c.89327T>A (p.Ile29776Asn)
c.84725T>A (p.Ile28242Asn)
c.84722T>A (p.Ile28241Asn)
c.81764T>A (p.Ile27255Asn)
c.63380T>A (p.Ile21127Asn)
c.84875T>A (p.Ile28292Asn)
c.84872T>A (p.Ile28291Asn)
c.84305T>A (p.Ile28102Asn)
c.81647T>A (p.Ile27216Asn)
c.81566T>A (p.Ile27189Asn)
c.63329T>A (p.Ile21110Asn)
c.53183T>A (p.Ile17728Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.178552467T>ACA349510785TTN,TTN-AS1c.82729A>T (p.Ile27577Phe)
c.63814A>T (p.Ile21272Phe)
c.63613A>T (p.Ile21205Phe)
c.63238A>T (p.Ile21080Phe)
c.90433A>T (p.Ile30145Phe)
c.85510A>T (p.Ile28504Phe)
n.447-18833T>A
n.2043+10106T>A
c.89530A>T (p.Ile29844Phe)
c.63424A>T (p.Ile21142Phe)
c.63283A>T (p.Ile21095Phe)
c.89326A>T (p.Ile29776Phe)
c.84724A>T (p.Ile28242Phe)
c.84721A>T (p.Ile28241Phe)
c.81763A>T (p.Ile27255Phe)
c.63379A>T (p.Ile21127Phe)
c.84874A>T (p.Ile28292Phe)
c.84871A>T (p.Ile28291Phe)
c.84304A>T (p.Ile28102Phe)
c.81646A>T (p.Ile27216Phe)
c.81565A>T (p.Ile27189Phe)
c.63328A>T (p.Ile21110Phe)
c.53182A>T (p.Ile17728Phe)
2g.178552467T>CCA349510788TTN,TTN-AS1c.82729A>G (p.Ile27577Val)
c.63814A>G (p.Ile21272Val)
c.63613A>G (p.Ile21205Val)
c.63238A>G (p.Ile21080Val)
c.90433A>G (p.Ile30145Val)
c.85510A>G (p.Ile28504Val)
n.447-18833T>C
n.2043+10106T>C
c.89530A>G (p.Ile29844Val)
c.63424A>G (p.Ile21142Val)
c.63283A>G (p.Ile21095Val)
c.89326A>G (p.Ile29776Val)
c.84724A>G (p.Ile28242Val)
c.84721A>G (p.Ile28241Val)
c.81763A>G (p.Ile27255Val)
c.63379A>G (p.Ile21127Val)
c.84874A>G (p.Ile28292Val)
c.84871A>G (p.Ile28291Val)
c.84304A>G (p.Ile28102Val)
c.81646A>G (p.Ile27216Val)
c.81565A>G (p.Ile27189Val)
c.63328A>G (p.Ile21110Val)
c.53182A>G (p.Ile17728Val)
2g.178552467T>GCA349510790TTN,TTN-AS1c.82729A>C (p.Ile27577Leu)
c.63814A>C (p.Ile21272Leu)
c.63613A>C (p.Ile21205Leu)
c.63238A>C (p.Ile21080Leu)
c.90433A>C (p.Ile30145Leu)
c.85510A>C (p.Ile28504Leu)
n.447-18833T>G
n.2043+10106T>G
c.89530A>C (p.Ile29844Leu)
c.63424A>C (p.Ile21142Leu)
c.63283A>C (p.Ile21095Leu)
c.89326A>C (p.Ile29776Leu)
c.84724A>C (p.Ile28242Leu)
c.84721A>C (p.Ile28241Leu)
c.81763A>C (p.Ile27255Leu)
c.63379A>C (p.Ile21127Leu)
c.84874A>C (p.Ile28292Leu)
c.84871A>C (p.Ile28291Leu)
c.84304A>C (p.Ile28102Leu)
c.81646A>C (p.Ile27216Leu)
c.81565A>C (p.Ile27189Leu)
c.63328A>C (p.Ile21110Leu)
c.53182A>C (p.Ile17728Leu)
2g.178552468T>ACA349510794TTN,TTN-AS1c.82728A>T (p.Arg27576Ser)
c.63813A>T (p.Arg21271Ser)
c.63612A>T (p.Arg21204Ser)
c.63237A>T (p.Arg21079Ser)
c.90432A>T (p.Arg30144Ser)
c.85509A>T (p.Arg28503Ser)
n.447-18832T>A
n.2043+10107T>A
c.89529A>T (p.Arg29843Ser)
c.63423A>T (p.Arg21141Ser)
c.63282A>T (p.Arg21094Ser)
c.89325A>T (p.Arg29775Ser)
c.84723A>T (p.Arg28241Ser)
c.84720A>T (p.Arg28240Ser)
c.81762A>T (p.Arg27254Ser)
c.63378A>T (p.Arg21126Ser)
c.84873A>T (p.Arg28291Ser)
c.84870A>T (p.Arg28290Ser)
c.84303A>T (p.Arg28101Ser)
c.81645A>T (p.Arg27215Ser)
c.81564A>T (p.Arg27188Ser)
c.63327A>T (p.Arg21109Ser)
c.53181A>T (p.Arg17727Ser)
2g.178552468T>CCA430245287TTN,TTN-AS1c.82728A>G (p.Arg27576=)
c.63813A>G (p.Arg21271=)
c.63612A>G (p.Arg21204=)
c.63237A>G (p.Arg21079=)
c.90432A>G (p.Arg30144=)
c.85509A>G (p.Arg28503=)
n.447-18832T>C
n.2043+10107T>C
c.89529A>G (p.Arg29843=)
c.63423A>G (p.Arg21141=)
c.63282A>G (p.Arg21094=)
c.89325A>G (p.Arg29775=)
c.84723A>G (p.Arg28241=)
c.84720A>G (p.Arg28240=)
c.81762A>G (p.Arg27254=)
c.63378A>G (p.Arg21126=)
c.84873A>G (p.Arg28291=)
c.84870A>G (p.Arg28290=)
c.84303A>G (p.Arg28101=)
c.81645A>G (p.Arg27215=)
c.81564A>G (p.Arg27188=)
c.63327A>G (p.Arg21109=)
c.53181A>G (p.Arg17727=)
2g.178552468T>GCA349510798TTN,TTN-AS1c.82728A>C (p.Arg27576Ser)
c.63813A>C (p.Arg21271Ser)
c.63612A>C (p.Arg21204Ser)
c.63237A>C (p.Arg21079Ser)
c.90432A>C (p.Arg30144Ser)
c.85509A>C (p.Arg28503Ser)
n.447-18832T>G
n.2043+10107T>G
c.89529A>C (p.Arg29843Ser)
c.63423A>C (p.Arg21141Ser)
c.63282A>C (p.Arg21094Ser)
c.89325A>C (p.Arg29775Ser)
c.84723A>C (p.Arg28241Ser)
c.84720A>C (p.Arg28240Ser)
c.81762A>C (p.Arg27254Ser)
c.63378A>C (p.Arg21126Ser)
c.84873A>C (p.Arg28291Ser)
c.84870A>C (p.Arg28290Ser)
c.84303A>C (p.Arg28101Ser)
c.81645A>C (p.Arg27215Ser)
c.81564A>C (p.Arg27188Ser)
c.63327A>C (p.Arg21109Ser)
c.53181A>C (p.Arg17727Ser)
2g.178552469C>ACA349510802TTN,TTN-AS1c.82727G>T (p.Arg27576Ile)
c.63812G>T (p.Arg21271Ile)
c.63611G>T (p.Arg21204Ile)
c.63236G>T (p.Arg21079Ile)
c.90431G>T (p.Arg30144Ile)
c.85508G>T (p.Arg28503Ile)
n.447-18831C>A
n.2043+10108C>A
c.89528G>T (p.Arg29843Ile)
c.63422G>T (p.Arg21141Ile)
c.63281G>T (p.Arg21094Ile)
c.89324G>T (p.Arg29775Ile)
c.84722G>T (p.Arg28241Ile)
c.84719G>T (p.Arg28240Ile)
c.81761G>T (p.Arg27254Ile)
c.63377G>T (p.Arg21126Ile)
c.84872G>T (p.Arg28291Ile)
c.84869G>T (p.Arg28290Ile)
c.84302G>T (p.Arg28101Ile)
c.81644G>T (p.Arg27215Ile)
c.81563G>T (p.Arg27188Ile)
c.63326G>T (p.Arg21109Ile)
c.53180G>T (p.Arg17727Ile)
2g.178552469C=CA1310521999TTN,TTN-AS1c.82727G= (p.Arg27576=)
c.63812G= (p.Arg21271=)
c.63611G= (p.Arg21204=)
c.63236G= (p.Arg21079=)
c.90431G= (p.Arg30144=)
c.85508G= (p.Arg28503=)
n.447-18831C=
n.2043+10108C=
c.89528G= (p.Arg29843=)
c.63422G= (p.Arg21141=)
c.63281G= (p.Arg21094=)
c.89324G= (p.Arg29775=)
c.84722G= (p.Arg28241=)
c.84719G= (p.Arg28240=)
c.81761G= (p.Arg27254=)
c.63377G= (p.Arg21126=)
c.84872G= (p.Arg28291=)
c.84869G= (p.Arg28290=)
c.84302G= (p.Arg28101=)
c.81644G= (p.Arg27215=)
c.81563G= (p.Arg27188=)
c.63326G= (p.Arg21109=)
c.53180G= (p.Arg17727=)
2g.178552469C>GCA349510804TTN,TTN-AS1c.82727G>C (p.Arg27576Thr)
c.63812G>C (p.Arg21271Thr)
c.63611G>C (p.Arg21204Thr)
c.63236G>C (p.Arg21079Thr)
c.90431G>C (p.Arg30144Thr)
c.85508G>C (p.Arg28503Thr)
n.447-18831C>G
n.2043+10108C>G
c.89528G>C (p.Arg29843Thr)
c.63422G>C (p.Arg21141Thr)
c.63281G>C (p.Arg21094Thr)
c.89324G>C (p.Arg29775Thr)
c.84722G>C (p.Arg28241Thr)
c.84719G>C (p.Arg28240Thr)
c.81761G>C (p.Arg27254Thr)
c.63377G>C (p.Arg21126Thr)
c.84872G>C (p.Arg28291Thr)
c.84869G>C (p.Arg28290Thr)
c.84302G>C (p.Arg28101Thr)
c.81644G>C (p.Arg27215Thr)
c.81563G>C (p.Arg27188Thr)
c.63326G>C (p.Arg21109Thr)
c.53180G>C (p.Arg17727Thr)
2g.178552469C>TCA349510813TTN,TTN-AS1c.82727G>A (p.Arg27576Lys)
c.63812G>A (p.Arg21271Lys)
c.63611G>A (p.Arg21204Lys)
c.63236G>A (p.Arg21079Lys)
c.90431G>A (p.Arg30144Lys)
c.85508G>A (p.Arg28503Lys)
n.447-18831C>T
n.2043+10108C>T
c.89528G>A (p.Arg29843Lys)
c.63422G>A (p.Arg21141Lys)
c.63281G>A (p.Arg21094Lys)
c.89324G>A (p.Arg29775Lys)
c.84722G>A (p.Arg28241Lys)
c.84719G>A (p.Arg28240Lys)
c.81761G>A (p.Arg27254Lys)
c.63377G>A (p.Arg21126Lys)
c.84872G>A (p.Arg28291Lys)
c.84869G>A (p.Arg28290Lys)
c.84302G>A (p.Arg28101Lys)
c.81644G>A (p.Arg27215Lys)
c.81563G>A (p.Arg27188Lys)
c.63326G>A (p.Arg21109Lys)
c.53180G>A (p.Arg17727Lys)
 dbSNP
2g.178552470T>ACA349510854TTN,TTN-AS1c.82726A>T (p.Arg27576Ter)
c.63811A>T (p.Arg21271Ter)
c.63610A>T (p.Arg21204Ter)
c.63235A>T (p.Arg21079Ter)
c.90430A>T (p.Arg30144Ter)
c.85507A>T (p.Arg28503Ter)
n.447-18830T>A
n.2043+10109T>A
c.89527A>T (p.Arg29843Ter)
c.63421A>T (p.Arg21141Ter)
c.63280A>T (p.Arg21094Ter)
c.89323A>T (p.Arg29775Ter)
c.84721A>T (p.Arg28241Ter)
c.84718A>T (p.Arg28240Ter)
c.81760A>T (p.Arg27254Ter)
c.63376A>T (p.Arg21126Ter)
c.84871A>T (p.Arg28291Ter)
c.84868A>T (p.Arg28290Ter)
c.84301A>T (p.Arg28101Ter)
c.81643A>T (p.Arg27215Ter)
c.81562A>T (p.Arg27188Ter)
c.63325A>T (p.Arg21109Ter)
c.53179A>T (p.Arg17727Ter)
2g.178552470T>CCA349510830TTN,TTN-AS1c.82726A>G (p.Arg27576Gly)
c.63811A>G (p.Arg21271Gly)
c.63610A>G (p.Arg21204Gly)
c.63235A>G (p.Arg21079Gly)
c.90430A>G (p.Arg30144Gly)
c.85507A>G (p.Arg28503Gly)
n.447-18830T>C
n.2043+10109T>C
c.89527A>G (p.Arg29843Gly)
c.63421A>G (p.Arg21141Gly)
c.63280A>G (p.Arg21094Gly)
c.89323A>G (p.Arg29775Gly)
c.84721A>G (p.Arg28241Gly)
c.84718A>G (p.Arg28240Gly)
c.81760A>G (p.Arg27254Gly)
c.63376A>G (p.Arg21126Gly)
c.84871A>G (p.Arg28291Gly)
c.84868A>G (p.Arg28290Gly)
c.84301A>G (p.Arg28101Gly)
c.81643A>G (p.Arg27215Gly)
c.81562A>G (p.Arg27188Gly)
c.63325A>G (p.Arg21109Gly)
c.53179A>G (p.Arg17727Gly)
2g.178552470T>GCA430245293TTN,TTN-AS1c.82726A>C (p.Arg27576=)
c.63811A>C (p.Arg21271=)
c.63610A>C (p.Arg21204=)
c.63235A>C (p.Arg21079=)
c.90430A>C (p.Arg30144=)
c.85507A>C (p.Arg28503=)
n.447-18830T>G
n.2043+10109T>G
c.89527A>C (p.Arg29843=)
c.63421A>C (p.Arg21141=)
c.63280A>C (p.Arg21094=)
c.89323A>C (p.Arg29775=)
c.84721A>C (p.Arg28241=)
c.84718A>C (p.Arg28240=)
c.81760A>C (p.Arg27254=)
c.63376A>C (p.Arg21126=)
c.84871A>C (p.Arg28291=)
c.84868A>C (p.Arg28290=)
c.84301A>C (p.Arg28101=)
c.81643A>C (p.Arg27215=)
c.81562A>C (p.Arg27188=)
c.63325A>C (p.Arg21109=)
c.53179A>C (p.Arg17727=)
2g.178552471C>ACA430245296TTN,TTN-AS1c.82725G>T (p.Val27575=)
c.63810G>T (p.Val21270=)
c.63609G>T (p.Val21203=)
c.63234G>T (p.Val21078=)
c.90429G>T (p.Val30143=)
c.85506G>T (p.Val28502=)
n.447-18829C>A
n.2043+10110C>A
c.89526G>T (p.Val29842=)
c.63420G>T (p.Val21140=)
c.63279G>T (p.Val21093=)
c.89322G>T (p.Val29774=)
c.84720G>T (p.Val28240=)
c.84717G>T (p.Val28239=)
c.81759G>T (p.Val27253=)
c.63375G>T (p.Val21125=)
c.84870G>T (p.Val28290=)
c.84867G>T (p.Val28289=)
c.84300G>T (p.Val28100=)
c.81642G>T (p.Val27214=)
c.81561G>T (p.Val27187=)
c.63324G>T (p.Val21108=)
c.53178G>T (p.Val17726=)
 gnomAD v4
2g.178552471C>GCA430245297TTN,TTN-AS1c.82725G>C (p.Val27575=)
c.63810G>C (p.Val21270=)
c.63609G>C (p.Val21203=)
c.63234G>C (p.Val21078=)
c.90429G>C (p.Val30143=)
c.85506G>C (p.Val28502=)
n.447-18829C>G
n.2043+10110C>G
c.89526G>C (p.Val29842=)
c.63420G>C (p.Val21140=)
c.63279G>C (p.Val21093=)
c.89322G>C (p.Val29774=)
c.84720G>C (p.Val28240=)
c.84717G>C (p.Val28239=)
c.81759G>C (p.Val27253=)
c.63375G>C (p.Val21125=)
c.84870G>C (p.Val28290=)
c.84867G>C (p.Val28289=)
c.84300G>C (p.Val28100=)
c.81642G>C (p.Val27214=)
c.81561G>C (p.Val27187=)
c.63324G>C (p.Val21108=)
c.53178G>C (p.Val17726=)
2g.178552471C>TCA430245298TTN,TTN-AS1c.82725G>A (p.Val27575=)
c.63810G>A (p.Val21270=)
c.63609G>A (p.Val21203=)
c.63234G>A (p.Val21078=)
c.90429G>A (p.Val30143=)
c.85506G>A (p.Val28502=)
n.447-18829C>T
n.2043+10110C>T
c.89526G>A (p.Val29842=)
c.63420G>A (p.Val21140=)
c.63279G>A (p.Val21093=)
c.89322G>A (p.Val29774=)
c.84720G>A (p.Val28240=)
c.84717G>A (p.Val28239=)
c.81759G>A (p.Val27253=)
c.63375G>A (p.Val21125=)
c.84870G>A (p.Val28290=)
c.84867G>A (p.Val28289=)
c.84300G>A (p.Val28100=)
c.81642G>A (p.Val27214=)
c.81561G>A (p.Val27187=)
c.63324G>A (p.Val21108=)
c.53178G>A (p.Val17726=)
2g.178552472A>CCA349510858TTN,TTN-AS1c.82724T>G (p.Val27575Gly)
c.63809T>G (p.Val21270Gly)
c.63608T>G (p.Val21203Gly)
c.63233T>G (p.Val21078Gly)
c.90428T>G (p.Val30143Gly)
c.85505T>G (p.Val28502Gly)
n.447-18828A>C
n.2043+10111A>C
c.89525T>G (p.Val29842Gly)
c.63419T>G (p.Val21140Gly)
c.63278T>G (p.Val21093Gly)
c.89321T>G (p.Val29774Gly)
c.84719T>G (p.Val28240Gly)
c.84716T>G (p.Val28239Gly)
c.81758T>G (p.Val27253Gly)
c.63374T>G (p.Val21125Gly)
c.84869T>G (p.Val28290Gly)
c.84866T>G (p.Val28289Gly)
c.84299T>G (p.Val28100Gly)
c.81641T>G (p.Val27214Gly)
c.81560T>G (p.Val27187Gly)
c.63323T>G (p.Val21108Gly)
c.53177T>G (p.Val17726Gly)
2g.178552472A>GCA349510865TTN,TTN-AS1c.82724T>C (p.Val27575Ala)
c.63809T>C (p.Val21270Ala)
c.63608T>C (p.Val21203Ala)
c.63233T>C (p.Val21078Ala)
c.90428T>C (p.Val30143Ala)
c.85505T>C (p.Val28502Ala)
n.447-18828A>G
n.2043+10111A>G
c.89525T>C (p.Val29842Ala)
c.63419T>C (p.Val21140Ala)
c.63278T>C (p.Val21093Ala)
c.89321T>C (p.Val29774Ala)
c.84719T>C (p.Val28240Ala)
c.84716T>C (p.Val28239Ala)
c.81758T>C (p.Val27253Ala)
c.63374T>C (p.Val21125Ala)
c.84869T>C (p.Val28290Ala)
c.84866T>C (p.Val28289Ala)
c.84299T>C (p.Val28100Ala)
c.81641T>C (p.Val27214Ala)
c.81560T>C (p.Val27187Ala)
c.63323T>C (p.Val21108Ala)
c.53177T>C (p.Val17726Ala)
2g.178552472A>TCA349510869TTN,TTN-AS1c.82724T>A (p.Val27575Glu)
c.63809T>A (p.Val21270Glu)
c.63608T>A (p.Val21203Glu)
c.63233T>A (p.Val21078Glu)
c.90428T>A (p.Val30143Glu)
c.85505T>A (p.Val28502Glu)
n.447-18828A>T
n.2043+10111A>T
c.89525T>A (p.Val29842Glu)
c.63419T>A (p.Val21140Glu)
c.63278T>A (p.Val21093Glu)
c.89321T>A (p.Val29774Glu)
c.84719T>A (p.Val28240Glu)
c.84716T>A (p.Val28239Glu)
c.81758T>A (p.Val27253Glu)
c.63374T>A (p.Val21125Glu)
c.84869T>A (p.Val28290Glu)
c.84866T>A (p.Val28289Glu)
c.84299T>A (p.Val28100Glu)
c.81641T>A (p.Val27214Glu)
c.81560T>A (p.Val27187Glu)
c.63323T>A (p.Val21108Glu)
c.53177T>A (p.Val17726Glu)
2g.178552473C>ACA349510872TTN,TTN-AS1c.82723G>T (p.Val27575Leu)
c.63808G>T (p.Val21270Leu)
c.63607G>T (p.Val21203Leu)
c.63232G>T (p.Val21078Leu)
c.90427G>T (p.Val30143Leu)
c.85504G>T (p.Val28502Leu)
n.447-18827C>A
n.2043+10112C>A
c.89524G>T (p.Val29842Leu)
c.63418G>T (p.Val21140Leu)
c.63277G>T (p.Val21093Leu)
c.89320G>T (p.Val29774Leu)
c.84718G>T (p.Val28240Leu)
c.84715G>T (p.Val28239Leu)
c.81757G>T (p.Val27253Leu)
c.63373G>T (p.Val21125Leu)
c.84868G>T (p.Val28290Leu)
c.84865G>T (p.Val28289Leu)
c.84298G>T (p.Val28100Leu)
c.81640G>T (p.Val27214Leu)
c.81559G>T (p.Val27187Leu)
c.63322G>T (p.Val21108Leu)
c.53176G>T (p.Val17726Leu)
 gnomAD v4
2g.178552473C=CA1310522003TTN,TTN-AS1c.82723G= (p.Val27575=)
c.63808G= (p.Val21270=)
c.63607G= (p.Val21203=)
c.63232G= (p.Val21078=)
c.90427G= (p.Val30143=)
c.85504G= (p.Val28502=)
n.447-18827C=
n.2043+10112C=
c.89524G= (p.Val29842=)
c.63418G= (p.Val21140=)
c.63277G= (p.Val21093=)
c.89320G= (p.Val29774=)
c.84718G= (p.Val28240=)
c.84715G= (p.Val28239=)
c.81757G= (p.Val27253=)
c.63373G= (p.Val21125=)
c.84868G= (p.Val28290=)
c.84865G= (p.Val28289=)
c.84298G= (p.Val28100=)
c.81640G= (p.Val27214=)
c.81559G= (p.Val27187=)
c.63322G= (p.Val21108=)
c.53176G= (p.Val17726=)
2g.178552473C>GCA349510873TTN,TTN-AS1c.82723G>C (p.Val27575Leu)
c.63808G>C (p.Val21270Leu)
c.63607G>C (p.Val21203Leu)
c.63232G>C (p.Val21078Leu)
c.90427G>C (p.Val30143Leu)
c.85504G>C (p.Val28502Leu)
n.447-18827C>G
n.2043+10112C>G
c.89524G>C (p.Val29842Leu)
c.63418G>C (p.Val21140Leu)
c.63277G>C (p.Val21093Leu)
c.89320G>C (p.Val29774Leu)
c.84718G>C (p.Val28240Leu)
c.84715G>C (p.Val28239Leu)
c.81757G>C (p.Val27253Leu)
c.63373G>C (p.Val21125Leu)
c.84868G>C (p.Val28290Leu)
c.84865G>C (p.Val28289Leu)
c.84298G>C (p.Val28100Leu)
c.81640G>C (p.Val27214Leu)
c.81559G>C (p.Val27187Leu)
c.63322G>C (p.Val21108Leu)
c.53176G>C (p.Val17726Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178552473C>TCA349510877TTN,TTN-AS1c.82723G>A (p.Val27575Met)
c.63808G>A (p.Val21270Met)
c.63607G>A (p.Val21203Met)
c.63232G>A (p.Val21078Met)
c.90427G>A (p.Val30143Met)
c.85504G>A (p.Val28502Met)
n.447-18827C>T
n.2043+10112C>T
c.89524G>A (p.Val29842Met)
c.63418G>A (p.Val21140Met)
c.63277G>A (p.Val21093Met)
c.89320G>A (p.Val29774Met)
c.84718G>A (p.Val28240Met)
c.84715G>A (p.Val28239Met)
c.81757G>A (p.Val27253Met)
c.63373G>A (p.Val21125Met)
c.84868G>A (p.Val28290Met)
c.84865G>A (p.Val28289Met)
c.84298G>A (p.Val28100Met)
c.81640G>A (p.Val27214Met)
c.81559G>A (p.Val27187Met)
c.63322G>A (p.Val21108Met)
c.53176G>A (p.Val17726Met)
2g.178552474A>CCA430245300TTN,TTN-AS1c.82722T>G (p.Thr27574=)
c.63807T>G (p.Thr21269=)
c.63606T>G (p.Thr21202=)
c.63231T>G (p.Thr21077=)
c.90426T>G (p.Thr30142=)
c.85503T>G (p.Thr28501=)
n.447-18826A>C
n.2043+10113A>C
c.89523T>G (p.Thr29841=)
c.63417T>G (p.Thr21139=)
c.63276T>G (p.Thr21092=)
c.89319T>G (p.Thr29773=)
c.84717T>G (p.Thr28239=)
c.84714T>G (p.Thr28238=)
c.81756T>G (p.Thr27252=)
c.63372T>G (p.Thr21124=)
c.84867T>G (p.Thr28289=)
c.84864T>G (p.Thr28288=)
c.84297T>G (p.Thr28099=)
c.81639T>G (p.Thr27213=)
c.81558T>G (p.Thr27186=)
c.63321T>G (p.Thr21107=)
c.53175T>G (p.Thr17725=)
 gnomAD v4
2g.178552474A>GCA430245301TTN,TTN-AS1c.82722T>C (p.Thr27574=)
c.63807T>C (p.Thr21269=)
c.63606T>C (p.Thr21202=)
c.63231T>C (p.Thr21077=)
c.90426T>C (p.Thr30142=)
c.85503T>C (p.Thr28501=)
n.447-18826A>G
n.2043+10113A>G
c.89523T>C (p.Thr29841=)
c.63417T>C (p.Thr21139=)
c.63276T>C (p.Thr21092=)
c.89319T>C (p.Thr29773=)
c.84717T>C (p.Thr28239=)
c.84714T>C (p.Thr28238=)
c.81756T>C (p.Thr27252=)
c.63372T>C (p.Thr21124=)
c.84867T>C (p.Thr28289=)
c.84864T>C (p.Thr28288=)
c.84297T>C (p.Thr28099=)
c.81639T>C (p.Thr27213=)
c.81558T>C (p.Thr27186=)
c.63321T>C (p.Thr21107=)
c.53175T>C (p.Thr17725=)
2g.178552474A>TCA430245303TTN,TTN-AS1c.82722T>A (p.Thr27574=)
c.63807T>A (p.Thr21269=)
c.63606T>A (p.Thr21202=)
c.63231T>A (p.Thr21077=)
c.90426T>A (p.Thr30142=)
c.85503T>A (p.Thr28501=)
n.447-18826A>T
n.2043+10113A>T
c.89523T>A (p.Thr29841=)
c.63417T>A (p.Thr21139=)
c.63276T>A (p.Thr21092=)
c.89319T>A (p.Thr29773=)
c.84717T>A (p.Thr28239=)
c.84714T>A (p.Thr28238=)
c.81756T>A (p.Thr27252=)
c.63372T>A (p.Thr21124=)
c.84867T>A (p.Thr28289=)
c.84864T>A (p.Thr28288=)
c.84297T>A (p.Thr28099=)
c.81639T>A (p.Thr27213=)
c.81558T>A (p.Thr27186=)
c.63321T>A (p.Thr21107=)
c.53175T>A (p.Thr17725=)
2g.178552475G>ACA60977761TTN,TTN-AS1c.82721C>T (p.Thr27574Ile)
c.63806C>T (p.Thr21269Ile)
c.63605C>T (p.Thr21202Ile)
c.63230C>T (p.Thr21077Ile)
c.90425C>T (p.Thr30142Ile)
c.85502C>T (p.Thr28501Ile)
n.447-18825G>A
n.2043+10114G>A
c.89522C>T (p.Thr29841Ile)
c.63416C>T (p.Thr21139Ile)
c.63275C>T (p.Thr21092Ile)
c.89318C>T (p.Thr29773Ile)
c.84716C>T (p.Thr28239Ile)
c.84713C>T (p.Thr28238Ile)
c.81755C>T (p.Thr27252Ile)
c.63371C>T (p.Thr21124Ile)
c.84866C>T (p.Thr28289Ile)
c.84863C>T (p.Thr28288Ile)
c.84296C>T (p.Thr28099Ile)
c.81638C>T (p.Thr27213Ile)
c.81557C>T (p.Thr27186Ile)
c.63320C>T (p.Thr21107Ile)
c.53174C>T (p.Thr17725Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178552475G>CCA1987793TTN,TTN-AS1c.82721C>G (p.Thr27574Ser)
c.63806C>G (p.Thr21269Ser)
c.63605C>G (p.Thr21202Ser)
c.63230C>G (p.Thr21077Ser)
c.90425C>G (p.Thr30142Ser)
c.85502C>G (p.Thr28501Ser)
n.447-18825G>C
n.2043+10114G>C
c.89522C>G (p.Thr29841Ser)
c.63416C>G (p.Thr21139Ser)
c.63275C>G (p.Thr21092Ser)
c.89318C>G (p.Thr29773Ser)
c.84716C>G (p.Thr28239Ser)
c.84713C>G (p.Thr28238Ser)
c.81755C>G (p.Thr27252Ser)
c.63371C>G (p.Thr21124Ser)
c.84866C>G (p.Thr28289Ser)
c.84863C>G (p.Thr28288Ser)
c.84296C>G (p.Thr28099Ser)
c.81638C>G (p.Thr27213Ser)
c.81557C>G (p.Thr27186Ser)
c.63320C>G (p.Thr21107Ser)
c.53174C>G (p.Thr17725Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched