Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178527124_178527132del | CA645517732 | TTN,TTN-AS1 | c.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 |
2 | g.178527124G>A | CA349398619 | TTN,TTN-AS1 | c.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 |
2 | g.178527124G>C | CA349398621 | TTN,TTN-AS1 | c.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) | |
2 | g.178527124G= | CA1310514314 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527124G>T | CA1984866 | TTN,TTN-AS1 | c.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 |
2 | g.178527125T>A | CA349398626 | TTN,TTN-AS1 | c.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) | |
2 | g.178527125T>C | CA349398629 | TTN,TTN-AS1 | c.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 |
2 | g.178527125T>G | CA349398631 | TTN,TTN-AS1 | c.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) | |
2 | g.178527126T>A | CA430233992 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527126T>C | CA430233993 | TTN,TTN-AS1 | c.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 |
2 | g.178527126T>G | CA430233994 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527127G>A | CA349398633 | TTN,TTN-AS1 | c.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) | |
2 | g.178527127G>C | CA349398636 | TTN,TTN-AS1 | c.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) | |
2 | g.178527127G>T | CA349398632 | TTN,TTN-AS1 | c.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) | |
2 | g.178527128T>A | CA349398638 | TTN,TTN-AS1 | c.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) | |
2 | g.178527128T>C | CA349398643 | TTN,TTN-AS1 | c.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) | |
2 | g.178527128T>G | CA349398640 | TTN,TTN-AS1 | c.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) | |
2 | g.178527129C>A | CA430234001 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527129C>G | CA430233999 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527129C>T | CA430234003 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527130A= | CA1310514315 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527130A>C | CA311301 | TTN,TTN-AS1 | c.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 |
2 | g.178527130A>G | CA349398649 | TTN,TTN-AS1 | c.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) | |
2 | g.178527130A>T | CA349398645 | TTN,TTN-AS1 | c.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) | |
2 | g.178527131G>A | CA430234006 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527131G>C | CA349398650 | TTN,TTN-AS1 | c.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) | |
2 | g.178527131G>T | CA349398653 | TTN,TTN-AS1 | c.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 |
2 | g.178527132G>A | CA430234007 | TTN,TTN-AS1 | c.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 |
2 | g.178527132G>C | CA349398654 | TTN,TTN-AS1 | c.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) | |
2 | g.178527132G= | CA1310514316 | TTN,TTN-AS1 | c.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=) | |
2 | g.178527132G>T | CA349398656 | TTN,TTN-AS1 | c.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) | |
2 | g.178527133T>A | CA349398658 | TTN,TTN-AS1 | c.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) | |
2 | g.178527133T>C | CA349398659 | TTN,TTN-AS1 | c.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 |
2 | g.178527133T>G | CA349398660 | TTN,TTN-AS1 | c.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) | |
2 | g.178527135_178527137dup | CA2662121647 | TTN,TTN-AS1 | c.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 |
2 | g.178527134C>A | CA349398667 | TTN,TTN-AS1 | c.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) | |
2 | g.178527134C>G | CA349398662 | TTN,TTN-AS1 | c.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) | |
2 | g.178527134C>T | CA349398665 | TTN,TTN-AS1 | c.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) | |
2 | g.178527135A= | CA1310514317 | TTN,TTN-AS1 | c.100149T= (p.Asp33383=) c.81234T= (p.Asp27078=) c.81033T= (p.Asp27011=) c.80658T= (p.Asp26886=) c.107853T= (p.Asp35951=) c.102930T= (p.Asp34310=) n.446+3499A= n.219+3499A= c.106950T= (p.Asp35650=) c.80844T= (p.Asp26948=) c.80703T= (p.Asp26901=) c.106746T= (p.Asp35582=) c.102144T= (p.Asp34048=) c.102141T= (p.Asp34047=) c.99183T= (p.Asp33061=) c.80799T= (p.Asp26933=) c.102294T= (p.Asp34098=) c.102291T= (p.Asp34097=) c.101724T= (p.Asp33908=) c.99066T= (p.Asp33022=) c.98985T= (p.Asp32995=) c.80748T= (p.Asp26916=) c.70602T= (p.Asp23534=) | |
2 | g.178527135A>C | CA349398670 | TTN,TTN-AS1 | c.100149T>G (p.Asp33383Glu) c.81234T>G (p.Asp27078Glu) c.81033T>G (p.Asp27011Glu) c.80658T>G (p.Asp26886Glu) c.107853T>G (p.Asp35951Glu) c.102930T>G (p.Asp34310Glu) n.446+3499A>C n.219+3499A>C c.106950T>G (p.Asp35650Glu) c.80844T>G (p.Asp26948Glu) c.80703T>G (p.Asp26901Glu) c.106746T>G (p.Asp35582Glu) c.102144T>G (p.Asp34048Glu) c.102141T>G (p.Asp34047Glu) c.99183T>G (p.Asp33061Glu) c.80799T>G (p.Asp26933Glu) c.102294T>G (p.Asp34098Glu) c.102291T>G (p.Asp34097Glu) c.101724T>G (p.Asp33908Glu) c.99066T>G (p.Asp33022Glu) c.98985T>G (p.Asp32995Glu) c.80748T>G (p.Asp26916Glu) c.70602T>G (p.Asp23534Glu) | |
2 | g.178527135A>G | CA430234012 | TTN,TTN-AS1 | c.100149T>C (p.Asp33383=) c.81234T>C (p.Asp27078=) c.81033T>C (p.Asp27011=) c.80658T>C (p.Asp26886=) c.107853T>C (p.Asp35951=) c.102930T>C (p.Asp34310=) n.446+3499A>G n.219+3499A>G c.106950T>C (p.Asp35650=) c.80844T>C (p.Asp26948=) c.80703T>C (p.Asp26901=) c.106746T>C (p.Asp35582=) c.102144T>C (p.Asp34048=) c.102141T>C (p.Asp34047=) c.99183T>C (p.Asp33061=) c.80799T>C (p.Asp26933=) c.102294T>C (p.Asp34098=) c.102291T>C (p.Asp34097=) c.101724T>C (p.Asp33908=) c.99066T>C (p.Asp33022=) c.98985T>C (p.Asp32995=) c.80748T>C (p.Asp26916=) c.70602T>C (p.Asp23534=) | dbSNP |
2 | g.178527135A>T | CA1984867 | TTN,TTN-AS1 | c.100149T>A (p.Asp33383Glu) c.81234T>A (p.Asp27078Glu) c.81033T>A (p.Asp27011Glu) c.80658T>A (p.Asp26886Glu) c.107853T>A (p.Asp35951Glu) c.102930T>A (p.Asp34310Glu) n.446+3499A>T n.219+3499A>T c.106950T>A (p.Asp35650Glu) c.80844T>A (p.Asp26948Glu) c.80703T>A (p.Asp26901Glu) c.106746T>A (p.Asp35582Glu) c.102144T>A (p.Asp34048Glu) c.102141T>A (p.Asp34047Glu) c.99183T>A (p.Asp33061Glu) c.80799T>A (p.Asp26933Glu) c.102294T>A (p.Asp34098Glu) c.102291T>A (p.Asp34097Glu) c.101724T>A (p.Asp33908Glu) c.99066T>A (p.Asp33022Glu) c.98985T>A (p.Asp32995Glu) c.80748T>A (p.Asp26916Glu) c.70602T>A (p.Asp23534Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527136T>A | CA349398672 | TTN,TTN-AS1 | c.100148A>T (p.Asp33383Val) c.81233A>T (p.Asp27078Val) c.81032A>T (p.Asp27011Val) c.80657A>T (p.Asp26886Val) c.107852A>T (p.Asp35951Val) c.102929A>T (p.Asp34310Val) n.446+3500T>A n.219+3500T>A c.106949A>T (p.Asp35650Val) c.80843A>T (p.Asp26948Val) c.80702A>T (p.Asp26901Val) c.106745A>T (p.Asp35582Val) c.102143A>T (p.Asp34048Val) c.102140A>T (p.Asp34047Val) c.99182A>T (p.Asp33061Val) c.80798A>T (p.Asp26933Val) c.102293A>T (p.Asp34098Val) c.102290A>T (p.Asp34097Val) c.101723A>T (p.Asp33908Val) c.99065A>T (p.Asp33022Val) c.98984A>T (p.Asp32995Val) c.80747A>T (p.Asp26916Val) c.70601A>T (p.Asp23534Val) | |
2 | g.178527136T>C | CA349398674 | TTN,TTN-AS1 | c.100148A>G (p.Asp33383Gly) c.81233A>G (p.Asp27078Gly) c.81032A>G (p.Asp27011Gly) c.80657A>G (p.Asp26886Gly) c.107852A>G (p.Asp35951Gly) c.102929A>G (p.Asp34310Gly) n.446+3500T>C n.219+3500T>C c.106949A>G (p.Asp35650Gly) c.80843A>G (p.Asp26948Gly) c.80702A>G (p.Asp26901Gly) c.106745A>G (p.Asp35582Gly) c.102143A>G (p.Asp34048Gly) c.102140A>G (p.Asp34047Gly) c.99182A>G (p.Asp33061Gly) c.80798A>G (p.Asp26933Gly) c.102293A>G (p.Asp34098Gly) c.102290A>G (p.Asp34097Gly) c.101723A>G (p.Asp33908Gly) c.99065A>G (p.Asp33022Gly) c.98984A>G (p.Asp32995Gly) c.80747A>G (p.Asp26916Gly) c.70601A>G (p.Asp23534Gly) | dbSNP gnomAD v4 |
2 | g.178527136T>G | CA349398677 | TTN,TTN-AS1 | c.100148A>C (p.Asp33383Ala) c.81233A>C (p.Asp27078Ala) c.81032A>C (p.Asp27011Ala) c.80657A>C (p.Asp26886Ala) c.107852A>C (p.Asp35951Ala) c.102929A>C (p.Asp34310Ala) n.446+3500T>G n.219+3500T>G c.106949A>C (p.Asp35650Ala) c.80843A>C (p.Asp26948Ala) c.80702A>C (p.Asp26901Ala) c.106745A>C (p.Asp35582Ala) c.102143A>C (p.Asp34048Ala) c.102140A>C (p.Asp34047Ala) c.99182A>C (p.Asp33061Ala) c.80798A>C (p.Asp26933Ala) c.102293A>C (p.Asp34098Ala) c.102290A>C (p.Asp34097Ala) c.101723A>C (p.Asp33908Ala) c.99065A>C (p.Asp33022Ala) c.98984A>C (p.Asp32995Ala) c.80747A>C (p.Asp26916Ala) c.70601A>C (p.Asp23534Ala) | |
2 | g.178527136T= | CA1310514318 | TTN,TTN-AS1 | c.100148A= (p.Asp33383=) c.81233A= (p.Asp27078=) c.81032A= (p.Asp27011=) c.80657A= (p.Asp26886=) c.107852A= (p.Asp35951=) c.102929A= (p.Asp34310=) n.446+3500T= n.219+3500T= c.106949A= (p.Asp35650=) c.80843A= (p.Asp26948=) c.80702A= (p.Asp26901=) c.106745A= (p.Asp35582=) c.102143A= (p.Asp34048=) c.102140A= (p.Asp34047=) c.99182A= (p.Asp33061=) c.80798A= (p.Asp26933=) c.102293A= (p.Asp34098=) c.102290A= (p.Asp34097=) c.101723A= (p.Asp33908=) c.99065A= (p.Asp33022=) c.98984A= (p.Asp32995=) c.80747A= (p.Asp26916=) c.70601A= (p.Asp23534=) | |
2 | g.178527137C>A | CA349398678 | TTN,TTN-AS1 | c.100147G>T (p.Asp33383Tyr) c.81232G>T (p.Asp27078Tyr) c.81031G>T (p.Asp27011Tyr) c.80656G>T (p.Asp26886Tyr) c.107851G>T (p.Asp35951Tyr) c.102928G>T (p.Asp34310Tyr) n.446+3501C>A n.219+3501C>A c.106948G>T (p.Asp35650Tyr) c.80842G>T (p.Asp26948Tyr) c.80701G>T (p.Asp26901Tyr) c.106744G>T (p.Asp35582Tyr) c.102142G>T (p.Asp34048Tyr) c.102139G>T (p.Asp34047Tyr) c.99181G>T (p.Asp33061Tyr) c.80797G>T (p.Asp26933Tyr) c.102292G>T (p.Asp34098Tyr) c.102289G>T (p.Asp34097Tyr) c.101722G>T (p.Asp33908Tyr) c.99064G>T (p.Asp33022Tyr) c.98983G>T (p.Asp32995Tyr) c.80746G>T (p.Asp26916Tyr) c.70600G>T (p.Asp23534Tyr) | ClinVar dbSNP |
2 | g.178527137C>G | CA349398682 | TTN,TTN-AS1 | c.100147G>C (p.Asp33383His) c.81232G>C (p.Asp27078His) c.81031G>C (p.Asp27011His) c.80656G>C (p.Asp26886His) c.107851G>C (p.Asp35951His) c.102928G>C (p.Asp34310His) n.446+3501C>G n.219+3501C>G c.106948G>C (p.Asp35650His) c.80842G>C (p.Asp26948His) c.80701G>C (p.Asp26901His) c.106744G>C (p.Asp35582His) c.102142G>C (p.Asp34048His) c.102139G>C (p.Asp34047His) c.99181G>C (p.Asp33061His) c.80797G>C (p.Asp26933His) c.102292G>C (p.Asp34098His) c.102289G>C (p.Asp34097His) c.101722G>C (p.Asp33908His) c.99064G>C (p.Asp33022His) c.98983G>C (p.Asp32995His) c.80746G>C (p.Asp26916His) c.70600G>C (p.Asp23534His) | |
2 | g.178527137C>T | CA349398680 | TTN,TTN-AS1 | c.100147G>A (p.Asp33383Asn) c.81232G>A (p.Asp27078Asn) c.81031G>A (p.Asp27011Asn) c.80656G>A (p.Asp26886Asn) c.107851G>A (p.Asp35951Asn) c.102928G>A (p.Asp34310Asn) n.446+3501C>T n.219+3501C>T c.106948G>A (p.Asp35650Asn) c.80842G>A (p.Asp26948Asn) c.80701G>A (p.Asp26901Asn) c.106744G>A (p.Asp35582Asn) c.102142G>A (p.Asp34048Asn) c.102139G>A (p.Asp34047Asn) c.99181G>A (p.Asp33061Asn) c.80797G>A (p.Asp26933Asn) c.102292G>A (p.Asp34098Asn) c.102289G>A (p.Asp34097Asn) c.101722G>A (p.Asp33908Asn) c.99064G>A (p.Asp33022Asn) c.98983G>A (p.Asp32995Asn) c.80746G>A (p.Asp26916Asn) c.70600G>A (p.Asp23534Asn) | ClinVar |
2 | g.178527138T>A | CA430234019 | TTN,TTN-AS1 | c.100146A>T (p.Thr33382=) c.81231A>T (p.Thr27077=) c.81030A>T (p.Thr27010=) c.80655A>T (p.Thr26885=) c.107850A>T (p.Thr35950=) c.102927A>T (p.Thr34309=) n.446+3502T>A n.219+3502T>A c.106947A>T (p.Thr35649=) c.80841A>T (p.Thr26947=) c.80700A>T (p.Thr26900=) c.106743A>T (p.Thr35581=) c.102141A>T (p.Thr34047=) c.102138A>T (p.Thr34046=) c.99180A>T (p.Thr33060=) c.80796A>T (p.Thr26932=) c.102291A>T (p.Thr34097=) c.102288A>T (p.Thr34096=) c.101721A>T (p.Thr33907=) c.99063A>T (p.Thr33021=) c.98982A>T (p.Thr32994=) c.80745A>T (p.Thr26915=) c.70599A>T (p.Thr23533=) |