Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178527124_178527132delCA645517732TTN,TTN-AS1c.100157_100165del (p.Thr33386_Leu33388del)
c.81242_81250del (p.Thr27081_Leu27083del)
c.81041_81049del (p.Thr27014_Leu27016del)
c.80666_80674del (p.Thr26889_Leu26891del)
c.107861_107869del (p.Thr35954_Leu35956del)
c.102938_102946del (p.Thr34313_Leu34315del)
n.446+3488_446+3496del
n.219+3488_219+3496del
c.106958_106966del (p.Thr35653_Leu35655del)
c.80852_80860del (p.Thr26951_Leu26953del)
c.80711_80719del (p.Thr26904_Leu26906del)
c.106754_106762del (p.Thr35585_Leu35587del)
c.102152_102160del (p.Thr34051_Leu34053del)
c.102149_102157del (p.Thr34050_Leu34052del)
c.99191_99199del (p.Thr33064_Leu33066del)
c.80807_80815del (p.Thr26936_Leu26938del)
c.102302_102310del (p.Thr34101_Leu34103del)
c.102299_102307del (p.Thr34100_Leu34102del)
c.101732_101740del (p.Thr33911_Leu33913del)
c.99074_99082del (p.Thr33025_Leu33027del)
c.98993_99001del (p.Thr32998_Leu33000del)
c.80756_80764del (p.Thr26919_Leu26921del)
c.70610_70618del (p.Thr23537_Leu23539del)
 ClinVar COSMIC COSMIC COSMIC COSMIC
2g.178527120_178527121delinsCACA1310514312TTN,TTN-AS1c.100163_100164delinsTG (p.Leu33388=)
c.81248_81249delinsTG (p.Leu27083=)
c.81047_81048delinsTG (p.Leu27016=)
c.80672_80673delinsTG (p.Leu26891=)
c.107867_107868delinsTG (p.Leu35956=)
c.102944_102945delinsTG (p.Leu34315=)
n.446+3484_446+3485delinsCA
n.219+3484_219+3485delinsCA
c.106964_106965delinsTG (p.Leu35655=)
c.80858_80859delinsTG (p.Leu26953=)
c.80717_80718delinsTG (p.Leu26906=)
c.106760_106761delinsTG (p.Leu35587=)
c.102158_102159delinsTG (p.Leu34053=)
c.102155_102156delinsTG (p.Leu34052=)
c.99197_99198delinsTG (p.Leu33066=)
c.80813_80814delinsTG (p.Leu26938=)
c.102308_102309delinsTG (p.Leu34103=)
c.102305_102306delinsTG (p.Leu34102=)
c.101738_101739delinsTG (p.Leu33913=)
c.99080_99081delinsTG (p.Leu33027=)
c.98999_99000delinsTG (p.Leu33000=)
c.80762_80763delinsTG (p.Leu26921=)
c.70616_70617delinsTG (p.Leu23539=)
2g.178527121delCA16616823TTN,TTN-AS1c.100163del (p.Leu33388ArgfsTer16)
c.81248del (p.Leu27083ArgfsTer16)
c.81047del (p.Leu27016ArgfsTer16)
c.80672del (p.Leu26891ArgfsTer16)
c.107867del (p.Leu35956ArgfsTer16)
c.102944del (p.Leu34315ArgfsTer16)
n.446+3485del
n.219+3485del
c.106964del (p.Leu35655ArgfsTer16)
c.80858del (p.Leu26953ArgfsTer16)
c.80717del (p.Leu26906ArgfsTer16)
c.106760del (p.Leu35587ArgfsTer16)
c.102158del (p.Leu34053ArgfsTer16)
c.102155del (p.Leu34052ArgfsTer16)
c.99197del (p.Leu33066ArgfsTer16)
c.80813del (p.Leu26938ArgfsTer16)
c.102308del (p.Leu34103ArgfsTer16)
c.102305del (p.Leu34102ArgfsTer16)
c.101738del (p.Leu33913ArgfsTer16)
c.99080del (p.Leu33027ArgfsTer16)
c.98999del (p.Leu33000ArgfsTer16)
c.80762del (p.Leu26921ArgfsTer16)
c.70616del (p.Leu23539ArgfsTer16)
 ClinVar dbSNP gnomAD v4
2g.178527121A=CA1310514313TTN,TTN-AS1c.100163T= (p.Leu33388=)
c.81248T= (p.Leu27083=)
c.81047T= (p.Leu27016=)
c.80672T= (p.Leu26891=)
c.107867T= (p.Leu35956=)
c.102944T= (p.Leu34315=)
n.446+3485A=
n.219+3485A=
c.106964T= (p.Leu35655=)
c.80858T= (p.Leu26953=)
c.80717T= (p.Leu26906=)
c.106760T= (p.Leu35587=)
c.102158T= (p.Leu34053=)
c.102155T= (p.Leu34052=)
c.99197T= (p.Leu33066=)
c.80813T= (p.Leu26938=)
c.102308T= (p.Leu34103=)
c.102305T= (p.Leu34102=)
c.101738T= (p.Leu33913=)
c.99080T= (p.Leu33027=)
c.98999T= (p.Leu33000=)
c.80762T= (p.Leu26921=)
c.70616T= (p.Leu23539=)
2g.178527121A>CCA349398607TTN,TTN-AS1c.100163T>G (p.Leu33388Arg)
c.81248T>G (p.Leu27083Arg)
c.81047T>G (p.Leu27016Arg)
c.80672T>G (p.Leu26891Arg)
c.107867T>G (p.Leu35956Arg)
c.102944T>G (p.Leu34315Arg)
n.446+3485A>C
n.219+3485A>C
c.106964T>G (p.Leu35655Arg)
c.80858T>G (p.Leu26953Arg)
c.80717T>G (p.Leu26906Arg)
c.106760T>G (p.Leu35587Arg)
c.102158T>G (p.Leu34053Arg)
c.102155T>G (p.Leu34052Arg)
c.99197T>G (p.Leu33066Arg)
c.80813T>G (p.Leu26938Arg)
c.102308T>G (p.Leu34103Arg)
c.102305T>G (p.Leu34102Arg)
c.101738T>G (p.Leu33913Arg)
c.99080T>G (p.Leu33027Arg)
c.98999T>G (p.Leu33000Arg)
c.80762T>G (p.Leu26921Arg)
c.70616T>G (p.Leu23539Arg)
2g.178527121A>GCA341209TTN,TTN-AS1c.100163T>C (p.Leu33388Pro)
c.81248T>C (p.Leu27083Pro)
c.81047T>C (p.Leu27016Pro)
c.80672T>C (p.Leu26891Pro)
c.107867T>C (p.Leu35956Pro)
c.102944T>C (p.Leu34315Pro)
n.446+3485A>G
n.219+3485A>G
c.106964T>C (p.Leu35655Pro)
c.80858T>C (p.Leu26953Pro)
c.80717T>C (p.Leu26906Pro)
c.106760T>C (p.Leu35587Pro)
c.102158T>C (p.Leu34053Pro)
c.102155T>C (p.Leu34052Pro)
c.99197T>C (p.Leu33066Pro)
c.80813T>C (p.Leu26938Pro)
c.102308T>C (p.Leu34103Pro)
c.102305T>C (p.Leu34102Pro)
c.101738T>C (p.Leu33913Pro)
c.99080T>C (p.Leu33027Pro)
c.98999T>C (p.Leu33000Pro)
c.80762T>C (p.Leu26921Pro)
c.70616T>C (p.Leu23539Pro)
 ClinVar dbSNP
2g.178527121A>TCA349398612TTN,TTN-AS1c.100163T>A (p.Leu33388Gln)
c.81248T>A (p.Leu27083Gln)
c.81047T>A (p.Leu27016Gln)
c.80672T>A (p.Leu26891Gln)
c.107867T>A (p.Leu35956Gln)
c.102944T>A (p.Leu34315Gln)
n.446+3485A>T
n.219+3485A>T
c.106964T>A (p.Leu35655Gln)
c.80858T>A (p.Leu26953Gln)
c.80717T>A (p.Leu26906Gln)
c.106760T>A (p.Leu35587Gln)
c.102158T>A (p.Leu34053Gln)
c.102155T>A (p.Leu34052Gln)
c.99197T>A (p.Leu33066Gln)
c.80813T>A (p.Leu26938Gln)
c.102308T>A (p.Leu34103Gln)
c.102305T>A (p.Leu34102Gln)
c.101738T>A (p.Leu33913Gln)
c.99080T>A (p.Leu33027Gln)
c.98999T>A (p.Leu33000Gln)
c.80762T>A (p.Leu26921Gln)
c.70616T>A (p.Leu23539Gln)
2g.178527122G>ACA430233982TTN,TTN-AS1c.100162C>T (p.Leu33388=)
c.81247C>T (p.Leu27083=)
c.81046C>T (p.Leu27016=)
c.80671C>T (p.Leu26891=)
c.107866C>T (p.Leu35956=)
c.102943C>T (p.Leu34315=)
n.446+3486G>A
n.219+3486G>A
c.106963C>T (p.Leu35655=)
c.80857C>T (p.Leu26953=)
c.80716C>T (p.Leu26906=)
c.106759C>T (p.Leu35587=)
c.102157C>T (p.Leu34053=)
c.102154C>T (p.Leu34052=)
c.99196C>T (p.Leu33066=)
c.80812C>T (p.Leu26938=)
c.102307C>T (p.Leu34103=)
c.102304C>T (p.Leu34102=)
c.101737C>T (p.Leu33913=)
c.99079C>T (p.Leu33027=)
c.98998C>T (p.Leu33000=)
c.80761C>T (p.Leu26921=)
c.70615C>T (p.Leu23539=)
 gnomAD v4
2g.178527122G>CCA349398615TTN,TTN-AS1c.100162C>G (p.Leu33388Val)
c.81247C>G (p.Leu27083Val)
c.81046C>G (p.Leu27016Val)
c.80671C>G (p.Leu26891Val)
c.107866C>G (p.Leu35956Val)
c.102943C>G (p.Leu34315Val)
n.446+3486G>C
n.219+3486G>C
c.106963C>G (p.Leu35655Val)
c.80857C>G (p.Leu26953Val)
c.80716C>G (p.Leu26906Val)
c.106759C>G (p.Leu35587Val)
c.102157C>G (p.Leu34053Val)
c.102154C>G (p.Leu34052Val)
c.99196C>G (p.Leu33066Val)
c.80812C>G (p.Leu26938Val)
c.102307C>G (p.Leu34103Val)
c.102304C>G (p.Leu34102Val)
c.101737C>G (p.Leu33913Val)
c.99079C>G (p.Leu33027Val)
c.98998C>G (p.Leu33000Val)
c.80761C>G (p.Leu26921Val)
c.70615C>G (p.Leu23539Val)
2g.178527122G>TCA349398617TTN,TTN-AS1c.100162C>A (p.Leu33388Met)
c.81247C>A (p.Leu27083Met)
c.81046C>A (p.Leu27016Met)
c.80671C>A (p.Leu26891Met)
c.107866C>A (p.Leu35956Met)
c.102943C>A (p.Leu34315Met)
n.446+3486G>T
n.219+3486G>T
c.106963C>A (p.Leu35655Met)
c.80857C>A (p.Leu26953Met)
c.80716C>A (p.Leu26906Met)
c.106759C>A (p.Leu35587Met)
c.102157C>A (p.Leu34053Met)
c.102154C>A (p.Leu34052Met)
c.99196C>A (p.Leu33066Met)
c.80812C>A (p.Leu26938Met)
c.102307C>A (p.Leu34103Met)
c.102304C>A (p.Leu34102Met)
c.101737C>A (p.Leu33913Met)
c.99079C>A (p.Leu33027Met)
c.98998C>A (p.Leu33000Met)
c.80761C>A (p.Leu26921Met)
c.70615C>A (p.Leu23539Met)
2g.178527123G>ACA430233989TTN,TTN-AS1c.100161C>T (p.Thr33387=)
c.81246C>T (p.Thr27082=)
c.81045C>T (p.Thr27015=)
c.80670C>T (p.Thr26890=)
c.107865C>T (p.Thr35955=)
c.102942C>T (p.Thr34314=)
n.446+3487G>A
n.219+3487G>A
c.106962C>T (p.Thr35654=)
c.80856C>T (p.Thr26952=)
c.80715C>T (p.Thr26905=)
c.106758C>T (p.Thr35586=)
c.102156C>T (p.Thr34052=)
c.102153C>T (p.Thr34051=)
c.99195C>T (p.Thr33065=)
c.80811C>T (p.Thr26937=)
c.102306C>T (p.Thr34102=)
c.102303C>T (p.Thr34101=)
c.101736C>T (p.Thr33912=)
c.99078C>T (p.Thr33026=)
c.98997C>T (p.Thr32999=)
c.80760C>T (p.Thr26920=)
c.70614C>T (p.Thr23538=)
 dbSNP
2g.178527123G>CCA430233984TTN,TTN-AS1c.100161C>G (p.Thr33387=)
c.81246C>G (p.Thr27082=)
c.81045C>G (p.Thr27015=)
c.80670C>G (p.Thr26890=)
c.107865C>G (p.Thr35955=)
c.102942C>G (p.Thr34314=)
n.446+3487G>C
n.219+3487G>C
c.106962C>G (p.Thr35654=)
c.80856C>G (p.Thr26952=)
c.80715C>G (p.Thr26905=)
c.106758C>G (p.Thr35586=)
c.102156C>G (p.Thr34052=)
c.102153C>G (p.Thr34051=)
c.99195C>G (p.Thr33065=)
c.80811C>G (p.Thr26937=)
c.102306C>G (p.Thr34102=)
c.102303C>G (p.Thr34101=)
c.101736C>G (p.Thr33912=)
c.99078C>G (p.Thr33026=)
c.98997C>G (p.Thr32999=)
c.80760C>G (p.Thr26920=)
c.70614C>G (p.Thr23538=)
 gnomAD v4
2g.178527123G>TCA430233987TTN,TTN-AS1c.100161C>A (p.Thr33387=)
c.81246C>A (p.Thr27082=)
c.81045C>A (p.Thr27015=)
c.80670C>A (p.Thr26890=)
c.107865C>A (p.Thr35955=)
c.102942C>A (p.Thr34314=)
n.446+3487G>T
n.219+3487G>T
c.106962C>A (p.Thr35654=)
c.80856C>A (p.Thr26952=)
c.80715C>A (p.Thr26905=)
c.106758C>A (p.Thr35586=)
c.102156C>A (p.Thr34052=)
c.102153C>A (p.Thr34051=)
c.99195C>A (p.Thr33065=)
c.80811C>A (p.Thr26937=)
c.102306C>A (p.Thr34102=)
c.102303C>A (p.Thr34101=)
c.101736C>A (p.Thr33912=)
c.99078C>A (p.Thr33026=)
c.98997C>A (p.Thr32999=)
c.80760C>A (p.Thr26920=)
c.70614C>A (p.Thr23538=)
2g.178527124G>ACA349398619TTN,TTN-AS1c.100160C>T (p.Thr33387Ile)
c.81245C>T (p.Thr27082Ile)
c.81044C>T (p.Thr27015Ile)
c.80669C>T (p.Thr26890Ile)
c.107864C>T (p.Thr35955Ile)
c.102941C>T (p.Thr34314Ile)
n.446+3488G>A
n.219+3488G>A
c.106961C>T (p.Thr35654Ile)
c.80855C>T (p.Thr26952Ile)
c.80714C>T (p.Thr26905Ile)
c.106757C>T (p.Thr35586Ile)
c.102155C>T (p.Thr34052Ile)
c.102152C>T (p.Thr34051Ile)
c.99194C>T (p.Thr33065Ile)
c.80810C>T (p.Thr26937Ile)
c.102305C>T (p.Thr34102Ile)
c.102302C>T (p.Thr34101Ile)
c.101735C>T (p.Thr33912Ile)
c.99077C>T (p.Thr33026Ile)
c.98996C>T (p.Thr32999Ile)
c.80759C>T (p.Thr26920Ile)
c.70613C>T (p.Thr23538Ile)
 ClinVar dbSNP gnomAD v4
2g.178527124G>CCA349398621TTN,TTN-AS1c.100160C>G (p.Thr33387Ser)
c.81245C>G (p.Thr27082Ser)
c.81044C>G (p.Thr27015Ser)
c.80669C>G (p.Thr26890Ser)
c.107864C>G (p.Thr35955Ser)
c.102941C>G (p.Thr34314Ser)
n.446+3488G>C
n.219+3488G>C
c.106961C>G (p.Thr35654Ser)
c.80855C>G (p.Thr26952Ser)
c.80714C>G (p.Thr26905Ser)
c.106757C>G (p.Thr35586Ser)
c.102155C>G (p.Thr34052Ser)
c.102152C>G (p.Thr34051Ser)
c.99194C>G (p.Thr33065Ser)
c.80810C>G (p.Thr26937Ser)
c.102305C>G (p.Thr34102Ser)
c.102302C>G (p.Thr34101Ser)
c.101735C>G (p.Thr33912Ser)
c.99077C>G (p.Thr33026Ser)
c.98996C>G (p.Thr32999Ser)
c.80759C>G (p.Thr26920Ser)
c.70613C>G (p.Thr23538Ser)
2g.178527124G=CA1310514314TTN,TTN-AS1c.100160C= (p.Thr33387=)
c.81245C= (p.Thr27082=)
c.81044C= (p.Thr27015=)
c.80669C= (p.Thr26890=)
c.107864C= (p.Thr35955=)
c.102941C= (p.Thr34314=)
n.446+3488G=
n.219+3488G=
c.106961C= (p.Thr35654=)
c.80855C= (p.Thr26952=)
c.80714C= (p.Thr26905=)
c.106757C= (p.Thr35586=)
c.102155C= (p.Thr34052=)
c.102152C= (p.Thr34051=)
c.99194C= (p.Thr33065=)
c.80810C= (p.Thr26937=)
c.102305C= (p.Thr34102=)
c.102302C= (p.Thr34101=)
c.101735C= (p.Thr33912=)
c.99077C= (p.Thr33026=)
c.98996C= (p.Thr32999=)
c.80759C= (p.Thr26920=)
c.70613C= (p.Thr23538=)
2g.178527124G>TCA1984866TTN,TTN-AS1c.100160C>A (p.Thr33387Asn)
c.81245C>A (p.Thr27082Asn)
c.81044C>A (p.Thr27015Asn)
c.80669C>A (p.Thr26890Asn)
c.107864C>A (p.Thr35955Asn)
c.102941C>A (p.Thr34314Asn)
n.446+3488G>T
n.219+3488G>T
c.106961C>A (p.Thr35654Asn)
c.80855C>A (p.Thr26952Asn)
c.80714C>A (p.Thr26905Asn)
c.106757C>A (p.Thr35586Asn)
c.102155C>A (p.Thr34052Asn)
c.102152C>A (p.Thr34051Asn)
c.99194C>A (p.Thr33065Asn)
c.80810C>A (p.Thr26937Asn)
c.102305C>A (p.Thr34102Asn)
c.102302C>A (p.Thr34101Asn)
c.101735C>A (p.Thr33912Asn)
c.99077C>A (p.Thr33026Asn)
c.98996C>A (p.Thr32999Asn)
c.80759C>A (p.Thr26920Asn)
c.70613C>A (p.Thr23538Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527125T>ACA349398626TTN,TTN-AS1c.100159A>T (p.Thr33387Ser)
c.81244A>T (p.Thr27082Ser)
c.81043A>T (p.Thr27015Ser)
c.80668A>T (p.Thr26890Ser)
c.107863A>T (p.Thr35955Ser)
c.102940A>T (p.Thr34314Ser)
n.446+3489T>A
n.219+3489T>A
c.106960A>T (p.Thr35654Ser)
c.80854A>T (p.Thr26952Ser)
c.80713A>T (p.Thr26905Ser)
c.106756A>T (p.Thr35586Ser)
c.102154A>T (p.Thr34052Ser)
c.102151A>T (p.Thr34051Ser)
c.99193A>T (p.Thr33065Ser)
c.80809A>T (p.Thr26937Ser)
c.102304A>T (p.Thr34102Ser)
c.102301A>T (p.Thr34101Ser)
c.101734A>T (p.Thr33912Ser)
c.99076A>T (p.Thr33026Ser)
c.98995A>T (p.Thr32999Ser)
c.80758A>T (p.Thr26920Ser)
c.70612A>T (p.Thr23538Ser)
2g.178527125T>CCA349398629TTN,TTN-AS1c.100159A>G (p.Thr33387Ala)
c.81244A>G (p.Thr27082Ala)
c.81043A>G (p.Thr27015Ala)
c.80668A>G (p.Thr26890Ala)
c.107863A>G (p.Thr35955Ala)
c.102940A>G (p.Thr34314Ala)
n.446+3489T>C
n.219+3489T>C
c.106960A>G (p.Thr35654Ala)
c.80854A>G (p.Thr26952Ala)
c.80713A>G (p.Thr26905Ala)
c.106756A>G (p.Thr35586Ala)
c.102154A>G (p.Thr34052Ala)
c.102151A>G (p.Thr34051Ala)
c.99193A>G (p.Thr33065Ala)
c.80809A>G (p.Thr26937Ala)
c.102304A>G (p.Thr34102Ala)
c.102301A>G (p.Thr34101Ala)
c.101734A>G (p.Thr33912Ala)
c.99076A>G (p.Thr33026Ala)
c.98995A>G (p.Thr32999Ala)
c.80758A>G (p.Thr26920Ala)
c.70612A>G (p.Thr23538Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178527125T>GCA349398631TTN,TTN-AS1c.100159A>C (p.Thr33387Pro)
c.81244A>C (p.Thr27082Pro)
c.81043A>C (p.Thr27015Pro)
c.80668A>C (p.Thr26890Pro)
c.107863A>C (p.Thr35955Pro)
c.102940A>C (p.Thr34314Pro)
n.446+3489T>G
n.219+3489T>G
c.106960A>C (p.Thr35654Pro)
c.80854A>C (p.Thr26952Pro)
c.80713A>C (p.Thr26905Pro)
c.106756A>C (p.Thr35586Pro)
c.102154A>C (p.Thr34052Pro)
c.102151A>C (p.Thr34051Pro)
c.99193A>C (p.Thr33065Pro)
c.80809A>C (p.Thr26937Pro)
c.102304A>C (p.Thr34102Pro)
c.102301A>C (p.Thr34101Pro)
c.101734A>C (p.Thr33912Pro)
c.99076A>C (p.Thr33026Pro)
c.98995A>C (p.Thr32999Pro)
c.80758A>C (p.Thr26920Pro)
c.70612A>C (p.Thr23538Pro)
2g.178527126T>ACA430233992TTN,TTN-AS1c.100158A>T (p.Thr33386=)
c.81243A>T (p.Thr27081=)
c.81042A>T (p.Thr27014=)
c.80667A>T (p.Thr26889=)
c.107862A>T (p.Thr35954=)
c.102939A>T (p.Thr34313=)
n.446+3490T>A
n.219+3490T>A
c.106959A>T (p.Thr35653=)
c.80853A>T (p.Thr26951=)
c.80712A>T (p.Thr26904=)
c.106755A>T (p.Thr35585=)
c.102153A>T (p.Thr34051=)
c.102150A>T (p.Thr34050=)
c.99192A>T (p.Thr33064=)
c.80808A>T (p.Thr26936=)
c.102303A>T (p.Thr34101=)
c.102300A>T (p.Thr34100=)
c.101733A>T (p.Thr33911=)
c.99075A>T (p.Thr33025=)
c.98994A>T (p.Thr32998=)
c.80757A>T (p.Thr26919=)
c.70611A>T (p.Thr23537=)
2g.178527126T>CCA430233993TTN,TTN-AS1c.100158A>G (p.Thr33386=)
c.81243A>G (p.Thr27081=)
c.81042A>G (p.Thr27014=)
c.80667A>G (p.Thr26889=)
c.107862A>G (p.Thr35954=)
c.102939A>G (p.Thr34313=)
n.446+3490T>C
n.219+3490T>C
c.106959A>G (p.Thr35653=)
c.80853A>G (p.Thr26951=)
c.80712A>G (p.Thr26904=)
c.106755A>G (p.Thr35585=)
c.102153A>G (p.Thr34051=)
c.102150A>G (p.Thr34050=)
c.99192A>G (p.Thr33064=)
c.80808A>G (p.Thr26936=)
c.102303A>G (p.Thr34101=)
c.102300A>G (p.Thr34100=)
c.101733A>G (p.Thr33911=)
c.99075A>G (p.Thr33025=)
c.98994A>G (p.Thr32998=)
c.80757A>G (p.Thr26919=)
c.70611A>G (p.Thr23537=)
 dbSNP
2g.178527126T>GCA430233994TTN,TTN-AS1c.100158A>C (p.Thr33386=)
c.81243A>C (p.Thr27081=)
c.81042A>C (p.Thr27014=)
c.80667A>C (p.Thr26889=)
c.107862A>C (p.Thr35954=)
c.102939A>C (p.Thr34313=)
n.446+3490T>G
n.219+3490T>G
c.106959A>C (p.Thr35653=)
c.80853A>C (p.Thr26951=)
c.80712A>C (p.Thr26904=)
c.106755A>C (p.Thr35585=)
c.102153A>C (p.Thr34051=)
c.102150A>C (p.Thr34050=)
c.99192A>C (p.Thr33064=)
c.80808A>C (p.Thr26936=)
c.102303A>C (p.Thr34101=)
c.102300A>C (p.Thr34100=)
c.101733A>C (p.Thr33911=)
c.99075A>C (p.Thr33025=)
c.98994A>C (p.Thr32998=)
c.80757A>C (p.Thr26919=)
c.70611A>C (p.Thr23537=)
2g.178527127G>ACA349398633TTN,TTN-AS1c.100157C>T (p.Thr33386Ile)
c.81242C>T (p.Thr27081Ile)
c.81041C>T (p.Thr27014Ile)
c.80666C>T (p.Thr26889Ile)
c.107861C>T (p.Thr35954Ile)
c.102938C>T (p.Thr34313Ile)
n.446+3491G>A
n.219+3491G>A
c.106958C>T (p.Thr35653Ile)
c.80852C>T (p.Thr26951Ile)
c.80711C>T (p.Thr26904Ile)
c.106754C>T (p.Thr35585Ile)
c.102152C>T (p.Thr34051Ile)
c.102149C>T (p.Thr34050Ile)
c.99191C>T (p.Thr33064Ile)
c.80807C>T (p.Thr26936Ile)
c.102302C>T (p.Thr34101Ile)
c.102299C>T (p.Thr34100Ile)
c.101732C>T (p.Thr33911Ile)
c.99074C>T (p.Thr33025Ile)
c.98993C>T (p.Thr32998Ile)
c.80756C>T (p.Thr26919Ile)
c.70610C>T (p.Thr23537Ile)
2g.178527127G>CCA349398636TTN,TTN-AS1c.100157C>G (p.Thr33386Arg)
c.81242C>G (p.Thr27081Arg)
c.81041C>G (p.Thr27014Arg)
c.80666C>G (p.Thr26889Arg)
c.107861C>G (p.Thr35954Arg)
c.102938C>G (p.Thr34313Arg)
n.446+3491G>C
n.219+3491G>C
c.106958C>G (p.Thr35653Arg)
c.80852C>G (p.Thr26951Arg)
c.80711C>G (p.Thr26904Arg)
c.106754C>G (p.Thr35585Arg)
c.102152C>G (p.Thr34051Arg)
c.102149C>G (p.Thr34050Arg)
c.99191C>G (p.Thr33064Arg)
c.80807C>G (p.Thr26936Arg)
c.102302C>G (p.Thr34101Arg)
c.102299C>G (p.Thr34100Arg)
c.101732C>G (p.Thr33911Arg)
c.99074C>G (p.Thr33025Arg)
c.98993C>G (p.Thr32998Arg)
c.80756C>G (p.Thr26919Arg)
c.70610C>G (p.Thr23537Arg)
2g.178527127G>TCA349398632TTN,TTN-AS1c.100157C>A (p.Thr33386Lys)
c.81242C>A (p.Thr27081Lys)
c.81041C>A (p.Thr27014Lys)
c.80666C>A (p.Thr26889Lys)
c.107861C>A (p.Thr35954Lys)
c.102938C>A (p.Thr34313Lys)
n.446+3491G>T
n.219+3491G>T
c.106958C>A (p.Thr35653Lys)
c.80852C>A (p.Thr26951Lys)
c.80711C>A (p.Thr26904Lys)
c.106754C>A (p.Thr35585Lys)
c.102152C>A (p.Thr34051Lys)
c.102149C>A (p.Thr34050Lys)
c.99191C>A (p.Thr33064Lys)
c.80807C>A (p.Thr26936Lys)
c.102302C>A (p.Thr34101Lys)
c.102299C>A (p.Thr34100Lys)
c.101732C>A (p.Thr33911Lys)
c.99074C>A (p.Thr33025Lys)
c.98993C>A (p.Thr32998Lys)
c.80756C>A (p.Thr26919Lys)
c.70610C>A (p.Thr23537Lys)
2g.178527128T>ACA349398638TTN,TTN-AS1c.100156A>T (p.Thr33386Ser)
c.81241A>T (p.Thr27081Ser)
c.81040A>T (p.Thr27014Ser)
c.80665A>T (p.Thr26889Ser)
c.107860A>T (p.Thr35954Ser)
c.102937A>T (p.Thr34313Ser)
n.446+3492T>A
n.219+3492T>A
c.106957A>T (p.Thr35653Ser)
c.80851A>T (p.Thr26951Ser)
c.80710A>T (p.Thr26904Ser)
c.106753A>T (p.Thr35585Ser)
c.102151A>T (p.Thr34051Ser)
c.102148A>T (p.Thr34050Ser)
c.99190A>T (p.Thr33064Ser)
c.80806A>T (p.Thr26936Ser)
c.102301A>T (p.Thr34101Ser)
c.102298A>T (p.Thr34100Ser)
c.101731A>T (p.Thr33911Ser)
c.99073A>T (p.Thr33025Ser)
c.98992A>T (p.Thr32998Ser)
c.80755A>T (p.Thr26919Ser)
c.70609A>T (p.Thr23537Ser)
2g.178527128T>CCA349398643TTN,TTN-AS1c.100156A>G (p.Thr33386Ala)
c.81241A>G (p.Thr27081Ala)
c.81040A>G (p.Thr27014Ala)
c.80665A>G (p.Thr26889Ala)
c.107860A>G (p.Thr35954Ala)
c.102937A>G (p.Thr34313Ala)
n.446+3492T>C
n.219+3492T>C
c.106957A>G (p.Thr35653Ala)
c.80851A>G (p.Thr26951Ala)
c.80710A>G (p.Thr26904Ala)
c.106753A>G (p.Thr35585Ala)
c.102151A>G (p.Thr34051Ala)
c.102148A>G (p.Thr34050Ala)
c.99190A>G (p.Thr33064Ala)
c.80806A>G (p.Thr26936Ala)
c.102301A>G (p.Thr34101Ala)
c.102298A>G (p.Thr34100Ala)
c.101731A>G (p.Thr33911Ala)
c.99073A>G (p.Thr33025Ala)
c.98992A>G (p.Thr32998Ala)
c.80755A>G (p.Thr26919Ala)
c.70609A>G (p.Thr23537Ala)
2g.178527128T>GCA349398640TTN,TTN-AS1c.100156A>C (p.Thr33386Pro)
c.81241A>C (p.Thr27081Pro)
c.81040A>C (p.Thr27014Pro)
c.80665A>C (p.Thr26889Pro)
c.107860A>C (p.Thr35954Pro)
c.102937A>C (p.Thr34313Pro)
n.446+3492T>G
n.219+3492T>G
c.106957A>C (p.Thr35653Pro)
c.80851A>C (p.Thr26951Pro)
c.80710A>C (p.Thr26904Pro)
c.106753A>C (p.Thr35585Pro)
c.102151A>C (p.Thr34051Pro)
c.102148A>C (p.Thr34050Pro)
c.99190A>C (p.Thr33064Pro)
c.80806A>C (p.Thr26936Pro)
c.102301A>C (p.Thr34101Pro)
c.102298A>C (p.Thr34100Pro)
c.101731A>C (p.Thr33911Pro)
c.99073A>C (p.Thr33025Pro)
c.98992A>C (p.Thr32998Pro)
c.80755A>C (p.Thr26919Pro)
c.70609A>C (p.Thr23537Pro)
2g.178527129C>ACA430234001TTN,TTN-AS1c.100155G>T (p.Leu33385=)
c.81240G>T (p.Leu27080=)
c.81039G>T (p.Leu27013=)
c.80664G>T (p.Leu26888=)
c.107859G>T (p.Leu35953=)
c.102936G>T (p.Leu34312=)
n.446+3493C>A
n.219+3493C>A
c.106956G>T (p.Leu35652=)
c.80850G>T (p.Leu26950=)
c.80709G>T (p.Leu26903=)
c.106752G>T (p.Leu35584=)
c.102150G>T (p.Leu34050=)
c.102147G>T (p.Leu34049=)
c.99189G>T (p.Leu33063=)
c.80805G>T (p.Leu26935=)
c.102300G>T (p.Leu34100=)
c.102297G>T (p.Leu34099=)
c.101730G>T (p.Leu33910=)
c.99072G>T (p.Leu33024=)
c.98991G>T (p.Leu32997=)
c.80754G>T (p.Leu26918=)
c.70608G>T (p.Leu23536=)
2g.178527129C>GCA430233999TTN,TTN-AS1c.100155G>C (p.Leu33385=)
c.81240G>C (p.Leu27080=)
c.81039G>C (p.Leu27013=)
c.80664G>C (p.Leu26888=)
c.107859G>C (p.Leu35953=)
c.102936G>C (p.Leu34312=)
n.446+3493C>G
n.219+3493C>G
c.106956G>C (p.Leu35652=)
c.80850G>C (p.Leu26950=)
c.80709G>C (p.Leu26903=)
c.106752G>C (p.Leu35584=)
c.102150G>C (p.Leu34050=)
c.102147G>C (p.Leu34049=)
c.99189G>C (p.Leu33063=)
c.80805G>C (p.Leu26935=)
c.102300G>C (p.Leu34100=)
c.102297G>C (p.Leu34099=)
c.101730G>C (p.Leu33910=)
c.99072G>C (p.Leu33024=)
c.98991G>C (p.Leu32997=)
c.80754G>C (p.Leu26918=)
c.70608G>C (p.Leu23536=)
2g.178527129C>TCA430234003TTN,TTN-AS1c.100155G>A (p.Leu33385=)
c.81240G>A (p.Leu27080=)
c.81039G>A (p.Leu27013=)
c.80664G>A (p.Leu26888=)
c.107859G>A (p.Leu35953=)
c.102936G>A (p.Leu34312=)
n.446+3493C>T
n.219+3493C>T
c.106956G>A (p.Leu35652=)
c.80850G>A (p.Leu26950=)
c.80709G>A (p.Leu26903=)
c.106752G>A (p.Leu35584=)
c.102150G>A (p.Leu34050=)
c.102147G>A (p.Leu34049=)
c.99189G>A (p.Leu33063=)
c.80805G>A (p.Leu26935=)
c.102300G>A (p.Leu34100=)
c.102297G>A (p.Leu34099=)
c.101730G>A (p.Leu33910=)
c.99072G>A (p.Leu33024=)
c.98991G>A (p.Leu32997=)
c.80754G>A (p.Leu26918=)
c.70608G>A (p.Leu23536=)
2g.178527130A=CA1310514315TTN,TTN-AS1c.100154T= (p.Leu33385=)
c.81239T= (p.Leu27080=)
c.81038T= (p.Leu27013=)
c.80663T= (p.Leu26888=)
c.107858T= (p.Leu35953=)
c.102935T= (p.Leu34312=)
n.446+3494A=
n.219+3494A=
c.106955T= (p.Leu35652=)
c.80849T= (p.Leu26950=)
c.80708T= (p.Leu26903=)
c.106751T= (p.Leu35584=)
c.102149T= (p.Leu34050=)
c.102146T= (p.Leu34049=)
c.99188T= (p.Leu33063=)
c.80804T= (p.Leu26935=)
c.102299T= (p.Leu34100=)
c.102296T= (p.Leu34099=)
c.101729T= (p.Leu33910=)
c.99071T= (p.Leu33024=)
c.98990T= (p.Leu32997=)
c.80753T= (p.Leu26918=)
c.70607T= (p.Leu23536=)
2g.178527130A>CCA311301TTN,TTN-AS1c.100154T>G (p.Leu33385Arg)
c.81239T>G (p.Leu27080Arg)
c.81038T>G (p.Leu27013Arg)
c.80663T>G (p.Leu26888Arg)
c.107858T>G (p.Leu35953Arg)
c.102935T>G (p.Leu34312Arg)
n.446+3494A>C
n.219+3494A>C
c.106955T>G (p.Leu35652Arg)
c.80849T>G (p.Leu26950Arg)
c.80708T>G (p.Leu26903Arg)
c.106751T>G (p.Leu35584Arg)
c.102149T>G (p.Leu34050Arg)
c.102146T>G (p.Leu34049Arg)
c.99188T>G (p.Leu33063Arg)
c.80804T>G (p.Leu26935Arg)
c.102299T>G (p.Leu34100Arg)
c.102296T>G (p.Leu34099Arg)
c.101729T>G (p.Leu33910Arg)
c.99071T>G (p.Leu33024Arg)
c.98990T>G (p.Leu32997Arg)
c.80753T>G (p.Leu26918Arg)
c.70607T>G (p.Leu23536Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178527130A>GCA349398649TTN,TTN-AS1c.100154T>C (p.Leu33385Pro)
c.81239T>C (p.Leu27080Pro)
c.81038T>C (p.Leu27013Pro)
c.80663T>C (p.Leu26888Pro)
c.107858T>C (p.Leu35953Pro)
c.102935T>C (p.Leu34312Pro)
n.446+3494A>G
n.219+3494A>G
c.106955T>C (p.Leu35652Pro)
c.80849T>C (p.Leu26950Pro)
c.80708T>C (p.Leu26903Pro)
c.106751T>C (p.Leu35584Pro)
c.102149T>C (p.Leu34050Pro)
c.102146T>C (p.Leu34049Pro)
c.99188T>C (p.Leu33063Pro)
c.80804T>C (p.Leu26935Pro)
c.102299T>C (p.Leu34100Pro)
c.102296T>C (p.Leu34099Pro)
c.101729T>C (p.Leu33910Pro)
c.99071T>C (p.Leu33024Pro)
c.98990T>C (p.Leu32997Pro)
c.80753T>C (p.Leu26918Pro)
c.70607T>C (p.Leu23536Pro)
2g.178527130A>TCA349398645TTN,TTN-AS1c.100154T>A (p.Leu33385Gln)
c.81239T>A (p.Leu27080Gln)
c.81038T>A (p.Leu27013Gln)
c.80663T>A (p.Leu26888Gln)
c.107858T>A (p.Leu35953Gln)
c.102935T>A (p.Leu34312Gln)
n.446+3494A>T
n.219+3494A>T
c.106955T>A (p.Leu35652Gln)
c.80849T>A (p.Leu26950Gln)
c.80708T>A (p.Leu26903Gln)
c.106751T>A (p.Leu35584Gln)
c.102149T>A (p.Leu34050Gln)
c.102146T>A (p.Leu34049Gln)
c.99188T>A (p.Leu33063Gln)
c.80804T>A (p.Leu26935Gln)
c.102299T>A (p.Leu34100Gln)
c.102296T>A (p.Leu34099Gln)
c.101729T>A (p.Leu33910Gln)
c.99071T>A (p.Leu33024Gln)
c.98990T>A (p.Leu32997Gln)
c.80753T>A (p.Leu26918Gln)
c.70607T>A (p.Leu23536Gln)
2g.178527131G>ACA430234006TTN,TTN-AS1c.100153C>T (p.Leu33385=)
c.81238C>T (p.Leu27080=)
c.81037C>T (p.Leu27013=)
c.80662C>T (p.Leu26888=)
c.107857C>T (p.Leu35953=)
c.102934C>T (p.Leu34312=)
n.446+3495G>A
n.219+3495G>A
c.106954C>T (p.Leu35652=)
c.80848C>T (p.Leu26950=)
c.80707C>T (p.Leu26903=)
c.106750C>T (p.Leu35584=)
c.102148C>T (p.Leu34050=)
c.102145C>T (p.Leu34049=)
c.99187C>T (p.Leu33063=)
c.80803C>T (p.Leu26935=)
c.102298C>T (p.Leu34100=)
c.102295C>T (p.Leu34099=)
c.101728C>T (p.Leu33910=)
c.99070C>T (p.Leu33024=)
c.98989C>T (p.Leu32997=)
c.80752C>T (p.Leu26918=)
c.70606C>T (p.Leu23536=)
2g.178527131G>CCA349398650TTN,TTN-AS1c.100153C>G (p.Leu33385Val)
c.81238C>G (p.Leu27080Val)
c.81037C>G (p.Leu27013Val)
c.80662C>G (p.Leu26888Val)
c.107857C>G (p.Leu35953Val)
c.102934C>G (p.Leu34312Val)
n.446+3495G>C
n.219+3495G>C
c.106954C>G (p.Leu35652Val)
c.80848C>G (p.Leu26950Val)
c.80707C>G (p.Leu26903Val)
c.106750C>G (p.Leu35584Val)
c.102148C>G (p.Leu34050Val)
c.102145C>G (p.Leu34049Val)
c.99187C>G (p.Leu33063Val)
c.80803C>G (p.Leu26935Val)
c.102298C>G (p.Leu34100Val)
c.102295C>G (p.Leu34099Val)
c.101728C>G (p.Leu33910Val)
c.99070C>G (p.Leu33024Val)
c.98989C>G (p.Leu32997Val)
c.80752C>G (p.Leu26918Val)
c.70606C>G (p.Leu23536Val)
2g.178527131G>TCA349398653TTN,TTN-AS1c.100153C>A (p.Leu33385Met)
c.81238C>A (p.Leu27080Met)
c.81037C>A (p.Leu27013Met)
c.80662C>A (p.Leu26888Met)
c.107857C>A (p.Leu35953Met)
c.102934C>A (p.Leu34312Met)
n.446+3495G>T
n.219+3495G>T
c.106954C>A (p.Leu35652Met)
c.80848C>A (p.Leu26950Met)
c.80707C>A (p.Leu26903Met)
c.106750C>A (p.Leu35584Met)
c.102148C>A (p.Leu34050Met)
c.102145C>A (p.Leu34049Met)
c.99187C>A (p.Leu33063Met)
c.80803C>A (p.Leu26935Met)
c.102298C>A (p.Leu34100Met)
c.102295C>A (p.Leu34099Met)
c.101728C>A (p.Leu33910Met)
c.99070C>A (p.Leu33024Met)
c.98989C>A (p.Leu32997Met)
c.80752C>A (p.Leu26918Met)
c.70606C>A (p.Leu23536Met)
 gnomAD v4
2g.178527132G>ACA430234007TTN,TTN-AS1c.100152C>T (p.Asp33384=)
c.81237C>T (p.Asp27079=)
c.81036C>T (p.Asp27012=)
c.80661C>T (p.Asp26887=)
c.107856C>T (p.Asp35952=)
c.102933C>T (p.Asp34311=)
n.446+3496G>A
n.219+3496G>A
c.106953C>T (p.Asp35651=)
c.80847C>T (p.Asp26949=)
c.80706C>T (p.Asp26902=)
c.106749C>T (p.Asp35583=)
c.102147C>T (p.Asp34049=)
c.102144C>T (p.Asp34048=)
c.99186C>T (p.Asp33062=)
c.80802C>T (p.Asp26934=)
c.102297C>T (p.Asp34099=)
c.102294C>T (p.Asp34098=)
c.101727C>T (p.Asp33909=)
c.99069C>T (p.Asp33023=)
c.98988C>T (p.Asp32996=)
c.80751C>T (p.Asp26917=)
c.70605C>T (p.Asp23535=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178527132G>CCA349398654TTN,TTN-AS1c.100152C>G (p.Asp33384Glu)
c.81237C>G (p.Asp27079Glu)
c.81036C>G (p.Asp27012Glu)
c.80661C>G (p.Asp26887Glu)
c.107856C>G (p.Asp35952Glu)
c.102933C>G (p.Asp34311Glu)
n.446+3496G>C
n.219+3496G>C
c.106953C>G (p.Asp35651Glu)
c.80847C>G (p.Asp26949Glu)
c.80706C>G (p.Asp26902Glu)
c.106749C>G (p.Asp35583Glu)
c.102147C>G (p.Asp34049Glu)
c.102144C>G (p.Asp34048Glu)
c.99186C>G (p.Asp33062Glu)
c.80802C>G (p.Asp26934Glu)
c.102297C>G (p.Asp34099Glu)
c.102294C>G (p.Asp34098Glu)
c.101727C>G (p.Asp33909Glu)
c.99069C>G (p.Asp33023Glu)
c.98988C>G (p.Asp32996Glu)
c.80751C>G (p.Asp26917Glu)
c.70605C>G (p.Asp23535Glu)
2g.178527132G=CA1310514316TTN,TTN-AS1c.100152C= (p.Asp33384=)
c.81237C= (p.Asp27079=)
c.81036C= (p.Asp27012=)
c.80661C= (p.Asp26887=)
c.107856C= (p.Asp35952=)
c.102933C= (p.Asp34311=)
n.446+3496G=
n.219+3496G=
c.106953C= (p.Asp35651=)
c.80847C= (p.Asp26949=)
c.80706C= (p.Asp26902=)
c.106749C= (p.Asp35583=)
c.102147C= (p.Asp34049=)
c.102144C= (p.Asp34048=)
c.99186C= (p.Asp33062=)
c.80802C= (p.Asp26934=)
c.102297C= (p.Asp34099=)
c.102294C= (p.Asp34098=)
c.101727C= (p.Asp33909=)
c.99069C= (p.Asp33023=)
c.98988C= (p.Asp32996=)
c.80751C= (p.Asp26917=)
c.70605C= (p.Asp23535=)
2g.178527132G>TCA349398656TTN,TTN-AS1c.100152C>A (p.Asp33384Glu)
c.81237C>A (p.Asp27079Glu)
c.81036C>A (p.Asp27012Glu)
c.80661C>A (p.Asp26887Glu)
c.107856C>A (p.Asp35952Glu)
c.102933C>A (p.Asp34311Glu)
n.446+3496G>T
n.219+3496G>T
c.106953C>A (p.Asp35651Glu)
c.80847C>A (p.Asp26949Glu)
c.80706C>A (p.Asp26902Glu)
c.106749C>A (p.Asp35583Glu)
c.102147C>A (p.Asp34049Glu)
c.102144C>A (p.Asp34048Glu)
c.99186C>A (p.Asp33062Glu)
c.80802C>A (p.Asp26934Glu)
c.102297C>A (p.Asp34099Glu)
c.102294C>A (p.Asp34098Glu)
c.101727C>A (p.Asp33909Glu)
c.99069C>A (p.Asp33023Glu)
c.98988C>A (p.Asp32996Glu)
c.80751C>A (p.Asp26917Glu)
c.70605C>A (p.Asp23535Glu)
2g.178527133T>ACA349398658TTN,TTN-AS1c.100151A>T (p.Asp33384Val)
c.81236A>T (p.Asp27079Val)
c.81035A>T (p.Asp27012Val)
c.80660A>T (p.Asp26887Val)
c.107855A>T (p.Asp35952Val)
c.102932A>T (p.Asp34311Val)
n.446+3497T>A
n.219+3497T>A
c.106952A>T (p.Asp35651Val)
c.80846A>T (p.Asp26949Val)
c.80705A>T (p.Asp26902Val)
c.106748A>T (p.Asp35583Val)
c.102146A>T (p.Asp34049Val)
c.102143A>T (p.Asp34048Val)
c.99185A>T (p.Asp33062Val)
c.80801A>T (p.Asp26934Val)
c.102296A>T (p.Asp34099Val)
c.102293A>T (p.Asp34098Val)
c.101726A>T (p.Asp33909Val)
c.99068A>T (p.Asp33023Val)
c.98987A>T (p.Asp32996Val)
c.80750A>T (p.Asp26917Val)
c.70604A>T (p.Asp23535Val)
2g.178527133T>CCA349398659TTN,TTN-AS1c.100151A>G (p.Asp33384Gly)
c.81236A>G (p.Asp27079Gly)
c.81035A>G (p.Asp27012Gly)
c.80660A>G (p.Asp26887Gly)
c.107855A>G (p.Asp35952Gly)
c.102932A>G (p.Asp34311Gly)
n.446+3497T>C
n.219+3497T>C
c.106952A>G (p.Asp35651Gly)
c.80846A>G (p.Asp26949Gly)
c.80705A>G (p.Asp26902Gly)
c.106748A>G (p.Asp35583Gly)
c.102146A>G (p.Asp34049Gly)
c.102143A>G (p.Asp34048Gly)
c.99185A>G (p.Asp33062Gly)
c.80801A>G (p.Asp26934Gly)
c.102296A>G (p.Asp34099Gly)
c.102293A>G (p.Asp34098Gly)
c.101726A>G (p.Asp33909Gly)
c.99068A>G (p.Asp33023Gly)
c.98987A>G (p.Asp32996Gly)
c.80750A>G (p.Asp26917Gly)
c.70604A>G (p.Asp23535Gly)
 COSMIC COSMIC COSMIC COSMIC
2g.178527133T>GCA349398660TTN,TTN-AS1c.100151A>C (p.Asp33384Ala)
c.81236A>C (p.Asp27079Ala)
c.81035A>C (p.Asp27012Ala)
c.80660A>C (p.Asp26887Ala)
c.107855A>C (p.Asp35952Ala)
c.102932A>C (p.Asp34311Ala)
n.446+3497T>G
n.219+3497T>G
c.106952A>C (p.Asp35651Ala)
c.80846A>C (p.Asp26949Ala)
c.80705A>C (p.Asp26902Ala)
c.106748A>C (p.Asp35583Ala)
c.102146A>C (p.Asp34049Ala)
c.102143A>C (p.Asp34048Ala)
c.99185A>C (p.Asp33062Ala)
c.80801A>C (p.Asp26934Ala)
c.102296A>C (p.Asp34099Ala)
c.102293A>C (p.Asp34098Ala)
c.101726A>C (p.Asp33909Ala)
c.99068A>C (p.Asp33023Ala)
c.98987A>C (p.Asp32996Ala)
c.80750A>C (p.Asp26917Ala)
c.70604A>C (p.Asp23535Ala)
2g.178527135_178527137dupCA2662121647TTN,TTN-AS1c.100149_100151dup (p.Asp33384_Leu33385insAsp)
c.81234_81236dup (p.Asp27079_Leu27080insAsp)
c.81033_81035dup (p.Asp27012_Leu27013insAsp)
c.80658_80660dup (p.Asp26887_Leu26888insAsp)
c.107853_107855dup (p.Asp35952_Leu35953insAsp)
c.102930_102932dup (p.Asp34311_Leu34312insAsp)
n.446+3499_446+3501dup
n.219+3499_219+3501dup
c.106950_106952dup (p.Asp35651_Leu35652insAsp)
c.80844_80846dup (p.Asp26949_Leu26950insAsp)
c.80703_80705dup (p.Asp26902_Leu26903insAsp)
c.106746_106748dup (p.Asp35583_Leu35584insAsp)
c.102144_102146dup (p.Asp34049_Leu34050insAsp)
c.102141_102143dup (p.Asp34048_Leu34049insAsp)
c.99183_99185dup (p.Asp33062_Leu33063insAsp)
c.80799_80801dup (p.Asp26934_Leu26935insAsp)
c.102294_102296dup (p.Asp34099_Leu34100insAsp)
c.102291_102293dup (p.Asp34098_Leu34099insAsp)
c.101724_101726dup (p.Asp33909_Leu33910insAsp)
c.99066_99068dup (p.Asp33023_Leu33024insAsp)
c.98985_98987dup (p.Asp32996_Leu32997insAsp)
c.80748_80750dup (p.Asp26917_Leu26918insAsp)
c.70602_70604dup (p.Asp23535_Leu23536insAsp)
 gnomAD v4
2g.178527134C>ACA349398667TTN,TTN-AS1c.100150G>T (p.Asp33384Tyr)
c.81235G>T (p.Asp27079Tyr)
c.81034G>T (p.Asp27012Tyr)
c.80659G>T (p.Asp26887Tyr)
c.107854G>T (p.Asp35952Tyr)
c.102931G>T (p.Asp34311Tyr)
n.446+3498C>A
n.219+3498C>A
c.106951G>T (p.Asp35651Tyr)
c.80845G>T (p.Asp26949Tyr)
c.80704G>T (p.Asp26902Tyr)
c.106747G>T (p.Asp35583Tyr)
c.102145G>T (p.Asp34049Tyr)
c.102142G>T (p.Asp34048Tyr)
c.99184G>T (p.Asp33062Tyr)
c.80800G>T (p.Asp26934Tyr)
c.102295G>T (p.Asp34099Tyr)
c.102292G>T (p.Asp34098Tyr)
c.101725G>T (p.Asp33909Tyr)
c.99067G>T (p.Asp33023Tyr)
c.98986G>T (p.Asp32996Tyr)
c.80749G>T (p.Asp26917Tyr)
c.70603G>T (p.Asp23535Tyr)
2g.178527134C>GCA349398662TTN,TTN-AS1c.100150G>C (p.Asp33384His)
c.81235G>C (p.Asp27079His)
c.81034G>C (p.Asp27012His)
c.80659G>C (p.Asp26887His)
c.107854G>C (p.Asp35952His)
c.102931G>C (p.Asp34311His)
n.446+3498C>G
n.219+3498C>G
c.106951G>C (p.Asp35651His)
c.80845G>C (p.Asp26949His)
c.80704G>C (p.Asp26902His)
c.106747G>C (p.Asp35583His)
c.102145G>C (p.Asp34049His)
c.102142G>C (p.Asp34048His)
c.99184G>C (p.Asp33062His)
c.80800G>C (p.Asp26934His)
c.102295G>C (p.Asp34099His)
c.102292G>C (p.Asp34098His)
c.101725G>C (p.Asp33909His)
c.99067G>C (p.Asp33023His)
c.98986G>C (p.Asp32996His)
c.80749G>C (p.Asp26917His)
c.70603G>C (p.Asp23535His)
2g.178527134C>TCA349398665TTN,TTN-AS1c.100150G>A (p.Asp33384Asn)
c.81235G>A (p.Asp27079Asn)
c.81034G>A (p.Asp27012Asn)
c.80659G>A (p.Asp26887Asn)
c.107854G>A (p.Asp35952Asn)
c.102931G>A (p.Asp34311Asn)
n.446+3498C>T
n.219+3498C>T
c.106951G>A (p.Asp35651Asn)
c.80845G>A (p.Asp26949Asn)
c.80704G>A (p.Asp26902Asn)
c.106747G>A (p.Asp35583Asn)
c.102145G>A (p.Asp34049Asn)
c.102142G>A (p.Asp34048Asn)
c.99184G>A (p.Asp33062Asn)
c.80800G>A (p.Asp26934Asn)
c.102295G>A (p.Asp34099Asn)
c.102292G>A (p.Asp34098Asn)
c.101725G>A (p.Asp33909Asn)
c.99067G>A (p.Asp33023Asn)
c.98986G>A (p.Asp32996Asn)
c.80749G>A (p.Asp26917Asn)
c.70603G>A (p.Asp23535Asn)

Number of alleles fetched