Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178527005G>A | CA1984850 | TTN,TTN-AS1 | c.*7C>T (n.*7C>T) n.446+3369G>A n.219+3369G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527005G= | CA1310514263 | TTN,TTN-AS1 | c.*7C= (n.*7C=) n.446+3369G= n.219+3369G= | |
2 | g.178527006G>A | CA538089811 | TTN,TTN-AS1 | c.*6C>T (n.*6C>T) n.446+3370G>A n.219+3370G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527006G>C | CA2607822199 | TTN,TTN-AS1 | c.*6C>G (n.*6C>G) n.446+3370G>C n.219+3370G>C | dbSNP gnomAD v4 |
2 | g.178527006G= | CA1310514264 | TTN,TTN-AS1 | c.*6C= (n.*6C=) n.446+3370G= n.219+3370G= | |
2 | g.178527006G>T | CA1984851 | TTN,TTN-AS1 | c.*6C>A (n.*6C>A) n.446+3370G>T n.219+3370G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527007C>A | CA2662121441 | TTN,TTN-AS1 | c.*5G>T (n.*5G>T) n.446+3371C>A n.219+3371C>A | gnomAD v4 |
2 | g.178527007C= | CA1310514265 | TTN,TTN-AS1 | c.*5G= (n.*5G=) n.446+3371C= n.219+3371C= | |
2 | g.178527007C>T | CA761281427 | TTN,TTN-AS1 | c.*5G>A (n.*5G>A) n.446+3371C>T n.219+3371C>T | dbSNP |
2 | g.178527009C= | CA1310514266 | TTN,TTN-AS1 | c.*3G= (n.*3G=) n.446+3373C= n.219+3373C= | |
2 | g.178527009C>G | CA2662121442 | TTN,TTN-AS1 | c.*3G>C (n.*3G>C) n.446+3373C>G n.219+3373C>G | gnomAD v4 |
2 | g.178527009C>T | CA538089813 | TTN,TTN-AS1 | c.*3G>A (n.*3G>A) n.446+3373C>T n.219+3373C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527011C>A | CA761281428 | TTN,TTN-AS1 | c.*1G>T (n.*1G>T) n.446+3375C>A n.219+3375C>A | dbSNP |
2 | g.178527011C= | CA1310514267 | TTN,TTN-AS1 | c.*1G= (n.*1G=) n.446+3375C= n.219+3375C= | |
2 | g.178527011C>G | CA538089815 | TTN,TTN-AS1 | c.*1G>C (n.*1G>C) n.446+3375C>G n.219+3375C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527012T>A | CA349398134 | TTN,TTN-AS1 | c.100272A>T (p.Ter33424Tyr) c.81357A>T (p.Ter27119Tyr) c.81156A>T (p.Ter27052Tyr) c.80781A>T (p.Ter26927Tyr) c.107976A>T (p.Ter35992Tyr) c.103053A>T (p.Ter34351Tyr) n.446+3376T>A n.219+3376T>A c.107073A>T (p.Ter35691Tyr) c.80967A>T (p.Ter26989Tyr) c.80826A>T (p.Ter26942Tyr) c.106869A>T (p.Ter35623Tyr) c.102267A>T (p.Ter34089Tyr) c.102264A>T (p.Ter34088Tyr) c.99306A>T (p.Ter33102Tyr) c.80922A>T (p.Ter26974Tyr) c.102417A>T (p.Ter34139Tyr) c.102414A>T (p.Ter34138Tyr) c.101847A>T (p.Ter33949Tyr) c.99189A>T (p.Ter33063Tyr) c.99108A>T (p.Ter33036Tyr) c.80871A>T (p.Ter26957Tyr) c.70725A>T (p.Ter23575Tyr) | |
2 | g.178527012T>C | CA1984852 | TTN,TTN-AS1 | c.100272A>G (p.Ter33424=) c.81357A>G (p.Ter27119=) c.81156A>G (p.Ter27052=) c.80781A>G (p.Ter26927=) c.107976A>G (p.Ter35992=) c.103053A>G (p.Ter34351=) n.446+3376T>C n.219+3376T>C c.107073A>G (p.Ter35691=) c.80967A>G (p.Ter26989=) c.80826A>G (p.Ter26942=) c.106869A>G (p.Ter35623=) c.102267A>G (p.Ter34089=) c.102264A>G (p.Ter34088=) c.99306A>G (p.Ter33102=) c.80922A>G (p.Ter26974=) c.102417A>G (p.Ter34139=) c.102414A>G (p.Ter34138=) c.101847A>G (p.Ter33949=) c.99189A>G (p.Ter33063=) c.99108A>G (p.Ter33036=) c.80871A>G (p.Ter26957=) c.70725A>G (p.Ter23575=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527012T>G | CA349398135 | TTN,TTN-AS1 | c.100272A>C (p.Ter33424Tyr) c.81357A>C (p.Ter27119Tyr) c.81156A>C (p.Ter27052Tyr) c.80781A>C (p.Ter26927Tyr) c.107976A>C (p.Ter35992Tyr) c.103053A>C (p.Ter34351Tyr) n.446+3376T>G n.219+3376T>G c.107073A>C (p.Ter35691Tyr) c.80967A>C (p.Ter26989Tyr) c.80826A>C (p.Ter26942Tyr) c.106869A>C (p.Ter35623Tyr) c.102267A>C (p.Ter34089Tyr) c.102264A>C (p.Ter34088Tyr) c.99306A>C (p.Ter33102Tyr) c.80922A>C (p.Ter26974Tyr) c.102417A>C (p.Ter34139Tyr) c.102414A>C (p.Ter34138Tyr) c.101847A>C (p.Ter33949Tyr) c.99189A>C (p.Ter33063Tyr) c.99108A>C (p.Ter33036Tyr) c.80871A>C (p.Ter26957Tyr) c.70725A>C (p.Ter23575Tyr) | |
2 | g.178527012T= | CA1310514268 | TTN,TTN-AS1 | c.100272A= (p.Ter33424=) c.81357A= (p.Ter27119=) c.81156A= (p.Ter27052=) c.80781A= (p.Ter26927=) c.107976A= (p.Ter35992=) c.103053A= (p.Ter34351=) n.446+3376T= n.219+3376T= c.107073A= (p.Ter35691=) c.80967A= (p.Ter26989=) c.80826A= (p.Ter26942=) c.106869A= (p.Ter35623=) c.102267A= (p.Ter34089=) c.102264A= (p.Ter34088=) c.99306A= (p.Ter33102=) c.80922A= (p.Ter26974=) c.102417A= (p.Ter34139=) c.102414A= (p.Ter34138=) c.101847A= (p.Ter33949=) c.99189A= (p.Ter33063=) c.99108A= (p.Ter33036=) c.80871A= (p.Ter26957=) c.70725A= (p.Ter23575=) | |
2 | g.178527013T>A | CA349398136 | TTN,TTN-AS1 | c.100271A>T (p.Ter33424Leu) c.81356A>T (p.Ter27119Leu) c.81155A>T (p.Ter27052Leu) c.80780A>T (p.Ter26927Leu) c.107975A>T (p.Ter35992Leu) c.103052A>T (p.Ter34351Leu) n.446+3377T>A n.219+3377T>A c.107072A>T (p.Ter35691Leu) c.80966A>T (p.Ter26989Leu) c.80825A>T (p.Ter26942Leu) c.106868A>T (p.Ter35623Leu) c.102266A>T (p.Ter34089Leu) c.102263A>T (p.Ter34088Leu) c.99305A>T (p.Ter33102Leu) c.80921A>T (p.Ter26974Leu) c.102416A>T (p.Ter34139Leu) c.102413A>T (p.Ter34138Leu) c.101846A>T (p.Ter33949Leu) c.99188A>T (p.Ter33063Leu) c.99107A>T (p.Ter33036Leu) c.80870A>T (p.Ter26957Leu) c.70724A>T (p.Ter23575Leu) | |
2 | g.178527013T>C | CA430091448 | TTN,TTN-AS1 | c.100271A>G (p.Ter33424=) c.81356A>G (p.Ter27119=) c.81155A>G (p.Ter27052=) c.80780A>G (p.Ter26927=) c.107975A>G (p.Ter35992=) c.103052A>G (p.Ter34351=) n.446+3377T>C n.219+3377T>C c.107072A>G (p.Ter35691=) c.80966A>G (p.Ter26989=) c.80825A>G (p.Ter26942=) c.106868A>G (p.Ter35623=) c.102266A>G (p.Ter34089=) c.102263A>G (p.Ter34088=) c.99305A>G (p.Ter33102=) c.80921A>G (p.Ter26974=) c.102416A>G (p.Ter34139=) c.102413A>G (p.Ter34138=) c.101846A>G (p.Ter33949=) c.99188A>G (p.Ter33063=) c.99107A>G (p.Ter33036=) c.80870A>G (p.Ter26957=) c.70724A>G (p.Ter23575=) | ClinVar dbSNP |
2 | g.178527013T>G | CA349398137 | TTN,TTN-AS1 | c.100271A>C (p.Ter33424Ser) c.81356A>C (p.Ter27119Ser) c.81155A>C (p.Ter27052Ser) c.80780A>C (p.Ter26927Ser) c.107975A>C (p.Ter35992Ser) c.103052A>C (p.Ter34351Ser) n.446+3377T>G n.219+3377T>G c.107072A>C (p.Ter35691Ser) c.80966A>C (p.Ter26989Ser) c.80825A>C (p.Ter26942Ser) c.106868A>C (p.Ter35623Ser) c.102266A>C (p.Ter34089Ser) c.102263A>C (p.Ter34088Ser) c.99305A>C (p.Ter33102Ser) c.80921A>C (p.Ter26974Ser) c.102416A>C (p.Ter34139Ser) c.102413A>C (p.Ter34138Ser) c.101846A>C (p.Ter33949Ser) c.99188A>C (p.Ter33063Ser) c.99107A>C (p.Ter33036Ser) c.80870A>C (p.Ter26957Ser) c.70724A>C (p.Ter23575Ser) | |
2 | g.178527014A= | CA1310514269 | TTN,TTN-AS1 | c.100270T= (p.Ter33424=) c.81355T= (p.Ter27119=) c.81154T= (p.Ter27052=) c.80779T= (p.Ter26927=) c.107974T= (p.Ter35992=) c.103051T= (p.Ter34351=) n.446+3378A= n.219+3378A= c.107071T= (p.Ter35691=) c.80965T= (p.Ter26989=) c.80824T= (p.Ter26942=) c.106867T= (p.Ter35623=) c.102265T= (p.Ter34089=) c.102262T= (p.Ter34088=) c.99304T= (p.Ter33102=) c.80920T= (p.Ter26974=) c.102415T= (p.Ter34139=) c.102412T= (p.Ter34138=) c.101845T= (p.Ter33949=) c.99187T= (p.Ter33063=) c.99106T= (p.Ter33036=) c.80869T= (p.Ter26957=) c.70723T= (p.Ter23575=) | |
2 | g.178527014A>C | CA349398138 | TTN,TTN-AS1 | c.100270T>G (p.Ter33424Glu) c.81355T>G (p.Ter27119Glu) c.81154T>G (p.Ter27052Glu) c.80779T>G (p.Ter26927Glu) c.107974T>G (p.Ter35992Glu) c.103051T>G (p.Ter34351Glu) n.446+3378A>C n.219+3378A>C c.107071T>G (p.Ter35691Glu) c.80965T>G (p.Ter26989Glu) c.80824T>G (p.Ter26942Glu) c.106867T>G (p.Ter35623Glu) c.102265T>G (p.Ter34089Glu) c.102262T>G (p.Ter34088Glu) c.99304T>G (p.Ter33102Glu) c.80920T>G (p.Ter26974Glu) c.102415T>G (p.Ter34139Glu) c.102412T>G (p.Ter34138Glu) c.101845T>G (p.Ter33949Glu) c.99187T>G (p.Ter33063Glu) c.99106T>G (p.Ter33036Glu) c.80869T>G (p.Ter26957Glu) c.70723T>G (p.Ter23575Glu) | |
2 | g.178527014A>G | CA349398139 | TTN,TTN-AS1 | c.100270T>C (p.Ter33424Gln) c.81355T>C (p.Ter27119Gln) c.81154T>C (p.Ter27052Gln) c.80779T>C (p.Ter26927Gln) c.107974T>C (p.Ter35992Gln) c.103051T>C (p.Ter34351Gln) n.446+3378A>G n.219+3378A>G c.107071T>C (p.Ter35691Gln) c.80965T>C (p.Ter26989Gln) c.80824T>C (p.Ter26942Gln) c.106867T>C (p.Ter35623Gln) c.102265T>C (p.Ter34089Gln) c.102262T>C (p.Ter34088Gln) c.99304T>C (p.Ter33102Gln) c.80920T>C (p.Ter26974Gln) c.102415T>C (p.Ter34139Gln) c.102412T>C (p.Ter34138Gln) c.101845T>C (p.Ter33949Gln) c.99187T>C (p.Ter33063Gln) c.99106T>C (p.Ter33036Gln) c.80869T>C (p.Ter26957Gln) c.70723T>C (p.Ter23575Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527014A>T | CA349398140 | TTN,TTN-AS1 | c.100270T>A (p.Ter33424Lys) c.81355T>A (p.Ter27119Lys) c.81154T>A (p.Ter27052Lys) c.80779T>A (p.Ter26927Lys) c.107974T>A (p.Ter35992Lys) c.103051T>A (p.Ter34351Lys) n.446+3378A>T n.219+3378A>T c.107071T>A (p.Ter35691Lys) c.80965T>A (p.Ter26989Lys) c.80824T>A (p.Ter26942Lys) c.106867T>A (p.Ter35623Lys) c.102265T>A (p.Ter34089Lys) c.102262T>A (p.Ter34088Lys) c.99304T>A (p.Ter33102Lys) c.80920T>A (p.Ter26974Lys) c.102415T>A (p.Ter34139Lys) c.102412T>A (p.Ter34138Lys) c.101845T>A (p.Ter33949Lys) c.99187T>A (p.Ter33063Lys) c.99106T>A (p.Ter33036Lys) c.80869T>A (p.Ter26957Lys) c.70723T>A (p.Ter23575Lys) | |
2 | g.178527015A>C | CA349398141 | TTN,TTN-AS1 | c.100269T>G (p.Ile33423Met) c.81354T>G (p.Ile27118Met) c.81153T>G (p.Ile27051Met) c.80778T>G (p.Ile26926Met) c.107973T>G (p.Ile35991Met) c.103050T>G (p.Ile34350Met) n.446+3379A>C n.219+3379A>C c.107070T>G (p.Ile35690Met) c.80964T>G (p.Ile26988Met) c.80823T>G (p.Ile26941Met) c.106866T>G (p.Ile35622Met) c.102264T>G (p.Ile34088Met) c.102261T>G (p.Ile34087Met) c.99303T>G (p.Ile33101Met) c.80919T>G (p.Ile26973Met) c.102414T>G (p.Ile34138Met) c.102411T>G (p.Ile34137Met) c.101844T>G (p.Ile33948Met) c.99186T>G (p.Ile33062Met) c.99105T>G (p.Ile33035Met) c.80868T>G (p.Ile26956Met) c.70722T>G (p.Ile23574Met) | |
2 | g.178527015A>G | CA430091449 | TTN,TTN-AS1 | c.100269T>C (p.Ile33423=) c.81354T>C (p.Ile27118=) c.81153T>C (p.Ile27051=) c.80778T>C (p.Ile26926=) c.107973T>C (p.Ile35991=) c.103050T>C (p.Ile34350=) n.446+3379A>G n.219+3379A>G c.107070T>C (p.Ile35690=) c.80964T>C (p.Ile26988=) c.80823T>C (p.Ile26941=) c.106866T>C (p.Ile35622=) c.102264T>C (p.Ile34088=) c.102261T>C (p.Ile34087=) c.99303T>C (p.Ile33101=) c.80919T>C (p.Ile26973=) c.102414T>C (p.Ile34138=) c.102411T>C (p.Ile34137=) c.101844T>C (p.Ile33948=) c.99186T>C (p.Ile33062=) c.99105T>C (p.Ile33035=) c.80868T>C (p.Ile26956=) c.70722T>C (p.Ile23574=) | |
2 | g.178527015A>T | CA430091450 | TTN,TTN-AS1 | c.100269T>A (p.Ile33423=) c.81354T>A (p.Ile27118=) c.81153T>A (p.Ile27051=) c.80778T>A (p.Ile26926=) c.107973T>A (p.Ile35991=) c.103050T>A (p.Ile34350=) n.446+3379A>T n.219+3379A>T c.107070T>A (p.Ile35690=) c.80964T>A (p.Ile26988=) c.80823T>A (p.Ile26941=) c.106866T>A (p.Ile35622=) c.102264T>A (p.Ile34088=) c.102261T>A (p.Ile34087=) c.99303T>A (p.Ile33101=) c.80919T>A (p.Ile26973=) c.102414T>A (p.Ile34138=) c.102411T>A (p.Ile34137=) c.101844T>A (p.Ile33948=) c.99186T>A (p.Ile33062=) c.99105T>A (p.Ile33035=) c.80868T>A (p.Ile26956=) c.70722T>A (p.Ile23574=) | |
2 | g.178527016A>C | CA349398142 | TTN,TTN-AS1 | c.100268T>G (p.Ile33423Ser) c.81353T>G (p.Ile27118Ser) c.81152T>G (p.Ile27051Ser) c.80777T>G (p.Ile26926Ser) c.107972T>G (p.Ile35991Ser) c.103049T>G (p.Ile34350Ser) n.446+3380A>C n.219+3380A>C c.107069T>G (p.Ile35690Ser) c.80963T>G (p.Ile26988Ser) c.80822T>G (p.Ile26941Ser) c.106865T>G (p.Ile35622Ser) c.102263T>G (p.Ile34088Ser) c.102260T>G (p.Ile34087Ser) c.99302T>G (p.Ile33101Ser) c.80918T>G (p.Ile26973Ser) c.102413T>G (p.Ile34138Ser) c.102410T>G (p.Ile34137Ser) c.101843T>G (p.Ile33948Ser) c.99185T>G (p.Ile33062Ser) c.99104T>G (p.Ile33035Ser) c.80867T>G (p.Ile26956Ser) c.70721T>G (p.Ile23574Ser) | |
2 | g.178527016A>G | CA349398143 | TTN,TTN-AS1 | c.100268T>C (p.Ile33423Thr) c.81353T>C (p.Ile27118Thr) c.81152T>C (p.Ile27051Thr) c.80777T>C (p.Ile26926Thr) c.107972T>C (p.Ile35991Thr) c.103049T>C (p.Ile34350Thr) n.446+3380A>G n.219+3380A>G c.107069T>C (p.Ile35690Thr) c.80963T>C (p.Ile26988Thr) c.80822T>C (p.Ile26941Thr) c.106865T>C (p.Ile35622Thr) c.102263T>C (p.Ile34088Thr) c.102260T>C (p.Ile34087Thr) c.99302T>C (p.Ile33101Thr) c.80918T>C (p.Ile26973Thr) c.102413T>C (p.Ile34138Thr) c.102410T>C (p.Ile34137Thr) c.101843T>C (p.Ile33948Thr) c.99185T>C (p.Ile33062Thr) c.99104T>C (p.Ile33035Thr) c.80867T>C (p.Ile26956Thr) c.70721T>C (p.Ile23574Thr) | |
2 | g.178527016A>T | CA349398144 | TTN,TTN-AS1 | c.100268T>A (p.Ile33423Asn) c.81353T>A (p.Ile27118Asn) c.81152T>A (p.Ile27051Asn) c.80777T>A (p.Ile26926Asn) c.107972T>A (p.Ile35991Asn) c.103049T>A (p.Ile34350Asn) n.446+3380A>T n.219+3380A>T c.107069T>A (p.Ile35690Asn) c.80963T>A (p.Ile26988Asn) c.80822T>A (p.Ile26941Asn) c.106865T>A (p.Ile35622Asn) c.102263T>A (p.Ile34088Asn) c.102260T>A (p.Ile34087Asn) c.99302T>A (p.Ile33101Asn) c.80918T>A (p.Ile26973Asn) c.102413T>A (p.Ile34138Asn) c.102410T>A (p.Ile34137Asn) c.101843T>A (p.Ile33948Asn) c.99185T>A (p.Ile33062Asn) c.99104T>A (p.Ile33035Asn) c.80867T>A (p.Ile26956Asn) c.70721T>A (p.Ile23574Asn) | |
2 | g.178527016_178527017delinsAT | CA1310514270 | TTN,TTN-AS1 | c.100267_100268delinsAT (p.Ile33423=) c.81352_81353delinsAT (p.Ile27118=) c.81151_81152delinsAT (p.Ile27051=) c.80776_80777delinsAT (p.Ile26926=) c.107971_107972delinsAT (p.Ile35991=) c.103048_103049delinsAT (p.Ile34350=) n.446+3380_446+3381delinsAT n.219+3380_219+3381delinsAT c.107068_107069delinsAT (p.Ile35690=) c.80962_80963delinsAT (p.Ile26988=) c.80821_80822delinsAT (p.Ile26941=) c.106864_106865delinsAT (p.Ile35622=) c.102262_102263delinsAT (p.Ile34088=) c.102259_102260delinsAT (p.Ile34087=) c.99301_99302delinsAT (p.Ile33101=) c.80917_80918delinsAT (p.Ile26973=) c.102412_102413delinsAT (p.Ile34138=) c.102409_102410delinsAT (p.Ile34137=) c.101842_101843delinsAT (p.Ile33948=) c.99184_99185delinsAT (p.Ile33062=) c.99103_99104delinsAT (p.Ile33035=) c.80866_80867delinsAT (p.Ile26956=) c.70720_70721delinsAT (p.Ile23574=) | |
2 | g.178527017del | CA237589 | TTN,TTN-AS1 | c.100267del (p.Ile33423PhefsTer14) c.81352del (p.Ile27118PhefsTer?) c.81151del (p.Ile27051PhefsTer?) c.81352del (p.Ile27118PhefsTer14) c.81151del (p.Ile27051PhefsTer14) c.80776del (p.Ile26926PhefsTer14) c.107971del (p.Ile35991PhefsTer14) c.103048del (p.Ile34350PhefsTer14) n.446+3381del n.219+3381del c.107068del (p.Ile35690PhefsTer14) c.80962del (p.Ile26988PhefsTer14) c.80821del (p.Ile26941PhefsTer14) c.106864del (p.Ile35622PhefsTer14) c.102262del (p.Ile34088PhefsTer14) c.102259del (p.Ile34087PhefsTer14) c.99301del (p.Ile33101PhefsTer14) c.80917del (p.Ile26973PhefsTer14) c.102412del (p.Ile34138PhefsTer14) c.102409del (p.Ile34137PhefsTer14) c.101842del (p.Ile33948PhefsTer14) c.99184del (p.Ile33062PhefsTer14) c.99103del (p.Ile33035PhefsTer14) c.80866del (p.Ile26956PhefsTer14) c.70720del (p.Ile23574PhefsTer14) | ClinVar dbSNP |
2 | g.178527017T>A | CA349398146 | TTN,TTN-AS1 | c.100267A>T (p.Ile33423Phe) c.81352A>T (p.Ile27118Phe) c.81151A>T (p.Ile27051Phe) c.80776A>T (p.Ile26926Phe) c.107971A>T (p.Ile35991Phe) c.103048A>T (p.Ile34350Phe) n.446+3381T>A n.219+3381T>A c.107068A>T (p.Ile35690Phe) c.80962A>T (p.Ile26988Phe) c.80821A>T (p.Ile26941Phe) c.106864A>T (p.Ile35622Phe) c.102262A>T (p.Ile34088Phe) c.102259A>T (p.Ile34087Phe) c.99301A>T (p.Ile33101Phe) c.80917A>T (p.Ile26973Phe) c.102412A>T (p.Ile34138Phe) c.102409A>T (p.Ile34137Phe) c.101842A>T (p.Ile33948Phe) c.99184A>T (p.Ile33062Phe) c.99103A>T (p.Ile33035Phe) c.80866A>T (p.Ile26956Phe) c.70720A>T (p.Ile23574Phe) | |
2 | g.178527017T>C | CA349398147 | TTN,TTN-AS1 | c.100267A>G (p.Ile33423Val) c.81352A>G (p.Ile27118Val) c.81151A>G (p.Ile27051Val) c.80776A>G (p.Ile26926Val) c.107971A>G (p.Ile35991Val) c.103048A>G (p.Ile34350Val) n.446+3381T>C n.219+3381T>C c.107068A>G (p.Ile35690Val) c.80962A>G (p.Ile26988Val) c.80821A>G (p.Ile26941Val) c.106864A>G (p.Ile35622Val) c.102262A>G (p.Ile34088Val) c.102259A>G (p.Ile34087Val) c.99301A>G (p.Ile33101Val) c.80917A>G (p.Ile26973Val) c.102412A>G (p.Ile34138Val) c.102409A>G (p.Ile34137Val) c.101842A>G (p.Ile33948Val) c.99184A>G (p.Ile33062Val) c.99103A>G (p.Ile33035Val) c.80866A>G (p.Ile26956Val) c.70720A>G (p.Ile23574Val) | |
2 | g.178527017T>G | CA349398145 | TTN,TTN-AS1 | c.100267A>C (p.Ile33423Leu) c.81352A>C (p.Ile27118Leu) c.81151A>C (p.Ile27051Leu) c.80776A>C (p.Ile26926Leu) c.107971A>C (p.Ile35991Leu) c.103048A>C (p.Ile34350Leu) n.446+3381T>G n.219+3381T>G c.107068A>C (p.Ile35690Leu) c.80962A>C (p.Ile26988Leu) c.80821A>C (p.Ile26941Leu) c.106864A>C (p.Ile35622Leu) c.102262A>C (p.Ile34088Leu) c.102259A>C (p.Ile34087Leu) c.99301A>C (p.Ile33101Leu) c.80917A>C (p.Ile26973Leu) c.102412A>C (p.Ile34138Leu) c.102409A>C (p.Ile34137Leu) c.101842A>C (p.Ile33948Leu) c.99184A>C (p.Ile33062Leu) c.99103A>C (p.Ile33035Leu) c.80866A>C (p.Ile26956Leu) c.70720A>C (p.Ile23574Leu) | |
2 | g.178527018G>A | CA430091451 | TTN,TTN-AS1 | c.100266C>T (p.Ser33422=) c.81351C>T (p.Ser27117=) c.81150C>T (p.Ser27050=) c.80775C>T (p.Ser26925=) c.107970C>T (p.Ser35990=) c.103047C>T (p.Ser34349=) n.446+3382G>A n.219+3382G>A c.107067C>T (p.Ser35689=) c.80961C>T (p.Ser26987=) c.80820C>T (p.Ser26940=) c.106863C>T (p.Ser35621=) c.102261C>T (p.Ser34087=) c.102258C>T (p.Ser34086=) c.99300C>T (p.Ser33100=) c.80916C>T (p.Ser26972=) c.102411C>T (p.Ser34137=) c.102408C>T (p.Ser34136=) c.101841C>T (p.Ser33947=) c.99183C>T (p.Ser33061=) c.99102C>T (p.Ser33034=) c.80865C>T (p.Ser26955=) c.70719C>T (p.Ser23573=) | |
2 | g.178527018G>C | CA430091453 | TTN,TTN-AS1 | c.100266C>G (p.Ser33422=) c.81351C>G (p.Ser27117=) c.81150C>G (p.Ser27050=) c.80775C>G (p.Ser26925=) c.107970C>G (p.Ser35990=) c.103047C>G (p.Ser34349=) n.446+3382G>C n.219+3382G>C c.107067C>G (p.Ser35689=) c.80961C>G (p.Ser26987=) c.80820C>G (p.Ser26940=) c.106863C>G (p.Ser35621=) c.102261C>G (p.Ser34087=) c.102258C>G (p.Ser34086=) c.99300C>G (p.Ser33100=) c.80916C>G (p.Ser26972=) c.102411C>G (p.Ser34137=) c.102408C>G (p.Ser34136=) c.101841C>G (p.Ser33947=) c.99183C>G (p.Ser33061=) c.99102C>G (p.Ser33034=) c.80865C>G (p.Ser26955=) c.70719C>G (p.Ser23573=) | |
2 | g.178527018G>T | CA430091452 | TTN,TTN-AS1 | c.100266C>A (p.Ser33422=) c.81351C>A (p.Ser27117=) c.81150C>A (p.Ser27050=) c.80775C>A (p.Ser26925=) c.107970C>A (p.Ser35990=) c.103047C>A (p.Ser34349=) n.446+3382G>T n.219+3382G>T c.107067C>A (p.Ser35689=) c.80961C>A (p.Ser26987=) c.80820C>A (p.Ser26940=) c.106863C>A (p.Ser35621=) c.102261C>A (p.Ser34087=) c.102258C>A (p.Ser34086=) c.99300C>A (p.Ser33100=) c.80916C>A (p.Ser26972=) c.102411C>A (p.Ser34137=) c.102408C>A (p.Ser34136=) c.101841C>A (p.Ser33947=) c.99183C>A (p.Ser33061=) c.99102C>A (p.Ser33034=) c.80865C>A (p.Ser26955=) c.70719C>A (p.Ser23573=) | |
2 | g.178527019del | CA2586970709 | TTN,TTN-AS1 | c.100266del (p.Ile33423PhefsTer14) c.81351del (p.Ile27118PhefsTer?) c.81150del (p.Ile27051PhefsTer?) c.81351del (p.Ile27118PhefsTer14) c.81150del (p.Ile27051PhefsTer14) c.80775del (p.Ile26926PhefsTer14) c.107970del (p.Ile35991PhefsTer14) c.103047del (p.Ile34350PhefsTer14) n.446+3383del n.219+3383del c.107067del (p.Ile35690PhefsTer14) c.80961del (p.Ile26988PhefsTer14) c.80820del (p.Ile26941PhefsTer14) c.106863del (p.Ile35622PhefsTer14) c.102261del (p.Ile34088PhefsTer14) c.102258del (p.Ile34087PhefsTer14) c.99300del (p.Ile33101PhefsTer14) c.80916del (p.Ile26973PhefsTer14) c.102411del (p.Ile34138PhefsTer14) c.102408del (p.Ile34137PhefsTer14) c.101841del (p.Ile33948PhefsTer14) c.99183del (p.Ile33062PhefsTer14) c.99102del (p.Ile33035PhefsTer14) c.80865del (p.Ile26956PhefsTer14) c.70719del (p.Ile23574PhefsTer14) | |
2 | g.178527019G>A | CA349398150 | TTN,TTN-AS1 | c.100265C>T (p.Ser33422Phe) c.81350C>T (p.Ser27117Phe) c.81149C>T (p.Ser27050Phe) c.80774C>T (p.Ser26925Phe) c.107969C>T (p.Ser35990Phe) c.103046C>T (p.Ser34349Phe) n.446+3383G>A n.219+3383G>A c.107066C>T (p.Ser35689Phe) c.80960C>T (p.Ser26987Phe) c.80819C>T (p.Ser26940Phe) c.106862C>T (p.Ser35621Phe) c.102260C>T (p.Ser34087Phe) c.102257C>T (p.Ser34086Phe) c.99299C>T (p.Ser33100Phe) c.80915C>T (p.Ser26972Phe) c.102410C>T (p.Ser34137Phe) c.102407C>T (p.Ser34136Phe) c.101840C>T (p.Ser33947Phe) c.99182C>T (p.Ser33061Phe) c.99101C>T (p.Ser33034Phe) c.80864C>T (p.Ser26955Phe) c.70718C>T (p.Ser23573Phe) | |
2 | g.178527019G>C | CA349398148 | TTN,TTN-AS1 | c.100265C>G (p.Ser33422Cys) c.81350C>G (p.Ser27117Cys) c.81149C>G (p.Ser27050Cys) c.80774C>G (p.Ser26925Cys) c.107969C>G (p.Ser35990Cys) c.103046C>G (p.Ser34349Cys) n.446+3383G>C n.219+3383G>C c.107066C>G (p.Ser35689Cys) c.80960C>G (p.Ser26987Cys) c.80819C>G (p.Ser26940Cys) c.106862C>G (p.Ser35621Cys) c.102260C>G (p.Ser34087Cys) c.102257C>G (p.Ser34086Cys) c.99299C>G (p.Ser33100Cys) c.80915C>G (p.Ser26972Cys) c.102410C>G (p.Ser34137Cys) c.102407C>G (p.Ser34136Cys) c.101840C>G (p.Ser33947Cys) c.99182C>G (p.Ser33061Cys) c.99101C>G (p.Ser33034Cys) c.80864C>G (p.Ser26955Cys) c.70718C>G (p.Ser23573Cys) | |
2 | g.178527019G>T | CA349398149 | TTN,TTN-AS1 | c.100265C>A (p.Ser33422Tyr) c.81350C>A (p.Ser27117Tyr) c.81149C>A (p.Ser27050Tyr) c.80774C>A (p.Ser26925Tyr) c.107969C>A (p.Ser35990Tyr) c.103046C>A (p.Ser34349Tyr) n.446+3383G>T n.219+3383G>T c.107066C>A (p.Ser35689Tyr) c.80960C>A (p.Ser26987Tyr) c.80819C>A (p.Ser26940Tyr) c.106862C>A (p.Ser35621Tyr) c.102260C>A (p.Ser34087Tyr) c.102257C>A (p.Ser34086Tyr) c.99299C>A (p.Ser33100Tyr) c.80915C>A (p.Ser26972Tyr) c.102410C>A (p.Ser34137Tyr) c.102407C>A (p.Ser34136Tyr) c.101840C>A (p.Ser33947Tyr) c.99182C>A (p.Ser33061Tyr) c.99101C>A (p.Ser33034Tyr) c.80864C>A (p.Ser26955Tyr) c.70718C>A (p.Ser23573Tyr) | |
2 | g.178527020A>C | CA349398151 | TTN,TTN-AS1 | c.100264T>G (p.Ser33422Ala) c.81349T>G (p.Ser27117Ala) c.81148T>G (p.Ser27050Ala) c.80773T>G (p.Ser26925Ala) c.107968T>G (p.Ser35990Ala) c.103045T>G (p.Ser34349Ala) n.446+3384A>C n.219+3384A>C c.107065T>G (p.Ser35689Ala) c.80959T>G (p.Ser26987Ala) c.80818T>G (p.Ser26940Ala) c.106861T>G (p.Ser35621Ala) c.102259T>G (p.Ser34087Ala) c.102256T>G (p.Ser34086Ala) c.99298T>G (p.Ser33100Ala) c.80914T>G (p.Ser26972Ala) c.102409T>G (p.Ser34137Ala) c.102406T>G (p.Ser34136Ala) c.101839T>G (p.Ser33947Ala) c.99181T>G (p.Ser33061Ala) c.99100T>G (p.Ser33034Ala) c.80863T>G (p.Ser26955Ala) c.70717T>G (p.Ser23573Ala) | |
2 | g.178527020A>G | CA349398152 | TTN,TTN-AS1 | c.100264T>C (p.Ser33422Pro) c.81349T>C (p.Ser27117Pro) c.81148T>C (p.Ser27050Pro) c.80773T>C (p.Ser26925Pro) c.107968T>C (p.Ser35990Pro) c.103045T>C (p.Ser34349Pro) n.446+3384A>G n.219+3384A>G c.107065T>C (p.Ser35689Pro) c.80959T>C (p.Ser26987Pro) c.80818T>C (p.Ser26940Pro) c.106861T>C (p.Ser35621Pro) c.102259T>C (p.Ser34087Pro) c.102256T>C (p.Ser34086Pro) c.99298T>C (p.Ser33100Pro) c.80914T>C (p.Ser26972Pro) c.102409T>C (p.Ser34137Pro) c.102406T>C (p.Ser34136Pro) c.101839T>C (p.Ser33947Pro) c.99181T>C (p.Ser33061Pro) c.99100T>C (p.Ser33034Pro) c.80863T>C (p.Ser26955Pro) c.70717T>C (p.Ser23573Pro) | |
2 | g.178527020A>T | CA349398153 | TTN,TTN-AS1 | c.100264T>A (p.Ser33422Thr) c.81349T>A (p.Ser27117Thr) c.81148T>A (p.Ser27050Thr) c.80773T>A (p.Ser26925Thr) c.107968T>A (p.Ser35990Thr) c.103045T>A (p.Ser34349Thr) n.446+3384A>T n.219+3384A>T c.107065T>A (p.Ser35689Thr) c.80959T>A (p.Ser26987Thr) c.80818T>A (p.Ser26940Thr) c.106861T>A (p.Ser35621Thr) c.102259T>A (p.Ser34087Thr) c.102256T>A (p.Ser34086Thr) c.99298T>A (p.Ser33100Thr) c.80914T>A (p.Ser26972Thr) c.102409T>A (p.Ser34137Thr) c.102406T>A (p.Ser34136Thr) c.101839T>A (p.Ser33947Thr) c.99181T>A (p.Ser33061Thr) c.99100T>A (p.Ser33034Thr) c.80863T>A (p.Ser26955Thr) c.70717T>A (p.Ser23573Thr) | |
2 | g.178527021T>A | CA430091454 | TTN,TTN-AS1 | c.100263A>T (p.Arg33421=) c.81348A>T (p.Arg27116=) c.81147A>T (p.Arg27049=) c.80772A>T (p.Arg26924=) c.107967A>T (p.Arg35989=) c.103044A>T (p.Arg34348=) n.446+3385T>A n.219+3385T>A c.107064A>T (p.Arg35688=) c.80958A>T (p.Arg26986=) c.80817A>T (p.Arg26939=) c.106860A>T (p.Arg35620=) c.102258A>T (p.Arg34086=) c.102255A>T (p.Arg34085=) c.99297A>T (p.Arg33099=) c.80913A>T (p.Arg26971=) c.102408A>T (p.Arg34136=) c.102405A>T (p.Arg34135=) c.101838A>T (p.Arg33946=) c.99180A>T (p.Arg33060=) c.99099A>T (p.Arg33033=) c.80862A>T (p.Arg26954=) c.70716A>T (p.Arg23572=) | dbSNP gnomAD v4 |
2 | g.178527021T>C | CA430091455 | TTN,TTN-AS1 | c.100263A>G (p.Arg33421=) c.81348A>G (p.Arg27116=) c.81147A>G (p.Arg27049=) c.80772A>G (p.Arg26924=) c.107967A>G (p.Arg35989=) c.103044A>G (p.Arg34348=) n.446+3385T>C n.219+3385T>C c.107064A>G (p.Arg35688=) c.80958A>G (p.Arg26986=) c.80817A>G (p.Arg26939=) c.106860A>G (p.Arg35620=) c.102258A>G (p.Arg34086=) c.102255A>G (p.Arg34085=) c.99297A>G (p.Arg33099=) c.80913A>G (p.Arg26971=) c.102408A>G (p.Arg34136=) c.102405A>G (p.Arg34135=) c.101838A>G (p.Arg33946=) c.99180A>G (p.Arg33060=) c.99099A>G (p.Arg33033=) c.80862A>G (p.Arg26954=) c.70716A>G (p.Arg23572=) | |
2 | g.178527021T>G | CA430091456 | TTN,TTN-AS1 | c.100263A>C (p.Arg33421=) c.81348A>C (p.Arg27116=) c.81147A>C (p.Arg27049=) c.80772A>C (p.Arg26924=) c.107967A>C (p.Arg35989=) c.103044A>C (p.Arg34348=) n.446+3385T>G n.219+3385T>G c.107064A>C (p.Arg35688=) c.80958A>C (p.Arg26986=) c.80817A>C (p.Arg26939=) c.106860A>C (p.Arg35620=) c.102258A>C (p.Arg34086=) c.102255A>C (p.Arg34085=) c.99297A>C (p.Arg33099=) c.80913A>C (p.Arg26971=) c.102408A>C (p.Arg34136=) c.102405A>C (p.Arg34135=) c.101838A>C (p.Arg33946=) c.99180A>C (p.Arg33060=) c.99099A>C (p.Arg33033=) c.80862A>C (p.Arg26954=) c.70716A>C (p.Arg23572=) | |
2 | g.178527021T= | CA1310514271 | TTN,TTN-AS1 | c.100263A= (p.Arg33421=) c.81348A= (p.Arg27116=) c.81147A= (p.Arg27049=) c.80772A= (p.Arg26924=) c.107967A= (p.Arg35989=) c.103044A= (p.Arg34348=) n.446+3385T= n.219+3385T= c.107064A= (p.Arg35688=) c.80958A= (p.Arg26986=) c.80817A= (p.Arg26939=) c.106860A= (p.Arg35620=) c.102258A= (p.Arg34086=) c.102255A= (p.Arg34085=) c.99297A= (p.Arg33099=) c.80913A= (p.Arg26971=) c.102408A= (p.Arg34136=) c.102405A= (p.Arg34135=) c.101838A= (p.Arg33946=) c.99180A= (p.Arg33060=) c.99099A= (p.Arg33033=) c.80862A= (p.Arg26954=) c.70716A= (p.Arg23572=) | |
2 | g.178527022C>A | CA349398155 | TTN,TTN-AS1 | c.100262G>T (p.Arg33421Leu) c.81347G>T (p.Arg27116Leu) c.81146G>T (p.Arg27049Leu) c.80771G>T (p.Arg26924Leu) c.107966G>T (p.Arg35989Leu) c.103043G>T (p.Arg34348Leu) n.446+3386C>A n.219+3386C>A c.107063G>T (p.Arg35688Leu) c.80957G>T (p.Arg26986Leu) c.80816G>T (p.Arg26939Leu) c.106859G>T (p.Arg35620Leu) c.102257G>T (p.Arg34086Leu) c.102254G>T (p.Arg34085Leu) c.99296G>T (p.Arg33099Leu) c.80912G>T (p.Arg26971Leu) c.102407G>T (p.Arg34136Leu) c.102404G>T (p.Arg34135Leu) c.101837G>T (p.Arg33946Leu) c.99179G>T (p.Arg33060Leu) c.99098G>T (p.Arg33033Leu) c.80861G>T (p.Arg26954Leu) c.70715G>T (p.Arg23572Leu) | gnomAD v4 |
2 | g.178527022C= | CA1310514272 | TTN,TTN-AS1 | c.100262G= (p.Arg33421=) c.81347G= (p.Arg27116=) c.81146G= (p.Arg27049=) c.80771G= (p.Arg26924=) c.107966G= (p.Arg35989=) c.103043G= (p.Arg34348=) n.446+3386C= n.219+3386C= c.107063G= (p.Arg35688=) c.80957G= (p.Arg26986=) c.80816G= (p.Arg26939=) c.106859G= (p.Arg35620=) c.102257G= (p.Arg34086=) c.102254G= (p.Arg34085=) c.99296G= (p.Arg33099=) c.80912G= (p.Arg26971=) c.102407G= (p.Arg34136=) c.102404G= (p.Arg34135=) c.101837G= (p.Arg33946=) c.99179G= (p.Arg33060=) c.99098G= (p.Arg33033=) c.80861G= (p.Arg26954=) c.70715G= (p.Arg23572=) | |
2 | g.178527022C>G | CA349398154 | TTN,TTN-AS1 | c.100262G>C (p.Arg33421Pro) c.81347G>C (p.Arg27116Pro) c.81146G>C (p.Arg27049Pro) c.80771G>C (p.Arg26924Pro) c.107966G>C (p.Arg35989Pro) c.103043G>C (p.Arg34348Pro) n.446+3386C>G n.219+3386C>G c.107063G>C (p.Arg35688Pro) c.80957G>C (p.Arg26986Pro) c.80816G>C (p.Arg26939Pro) c.106859G>C (p.Arg35620Pro) c.102257G>C (p.Arg34086Pro) c.102254G>C (p.Arg34085Pro) c.99296G>C (p.Arg33099Pro) c.80912G>C (p.Arg26971Pro) c.102407G>C (p.Arg34136Pro) c.102404G>C (p.Arg34135Pro) c.101837G>C (p.Arg33946Pro) c.99179G>C (p.Arg33060Pro) c.99098G>C (p.Arg33033Pro) c.80861G>C (p.Arg26954Pro) c.70715G>C (p.Arg23572Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527022C>T | CA1984853 | TTN,TTN-AS1 | c.100262G>A (p.Arg33421Gln) c.81347G>A (p.Arg27116Gln) c.81146G>A (p.Arg27049Gln) c.80771G>A (p.Arg26924Gln) c.107966G>A (p.Arg35989Gln) c.103043G>A (p.Arg34348Gln) n.446+3386C>T n.219+3386C>T c.107063G>A (p.Arg35688Gln) c.80957G>A (p.Arg26986Gln) c.80816G>A (p.Arg26939Gln) c.106859G>A (p.Arg35620Gln) c.102257G>A (p.Arg34086Gln) c.102254G>A (p.Arg34085Gln) c.99296G>A (p.Arg33099Gln) c.80912G>A (p.Arg26971Gln) c.102407G>A (p.Arg34136Gln) c.102404G>A (p.Arg34135Gln) c.101837G>A (p.Arg33946Gln) c.99179G>A (p.Arg33060Gln) c.99098G>A (p.Arg33033Gln) c.80861G>A (p.Arg26954Gln) c.70715G>A (p.Arg23572Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527023G>A | CA309523 | TTN,TTN-AS1 | c.100261C>T (p.Arg33421Ter) c.81346C>T (p.Arg27116Ter) c.81145C>T (p.Arg27049Ter) c.80770C>T (p.Arg26924Ter) c.107965C>T (p.Arg35989Ter) c.103042C>T (p.Arg34348Ter) n.446+3387G>A n.219+3387G>A c.107062C>T (p.Arg35688Ter) c.80956C>T (p.Arg26986Ter) c.80815C>T (p.Arg26939Ter) c.106858C>T (p.Arg35620Ter) c.102256C>T (p.Arg34086Ter) c.102253C>T (p.Arg34085Ter) c.99295C>T (p.Arg33099Ter) c.80911C>T (p.Arg26971Ter) c.102406C>T (p.Arg34136Ter) c.102403C>T (p.Arg34135Ter) c.101836C>T (p.Arg33946Ter) c.99178C>T (p.Arg33060Ter) c.99097C>T (p.Arg33033Ter) c.80860C>T (p.Arg26954Ter) c.70714C>T (p.Arg23572Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178527023G>C | CA349398156 | TTN,TTN-AS1 | c.100261C>G (p.Arg33421Gly) c.81346C>G (p.Arg27116Gly) c.81145C>G (p.Arg27049Gly) c.80770C>G (p.Arg26924Gly) c.107965C>G (p.Arg35989Gly) c.103042C>G (p.Arg34348Gly) n.446+3387G>C n.219+3387G>C c.107062C>G (p.Arg35688Gly) c.80956C>G (p.Arg26986Gly) c.80815C>G (p.Arg26939Gly) c.106858C>G (p.Arg35620Gly) c.102256C>G (p.Arg34086Gly) c.102253C>G (p.Arg34085Gly) c.99295C>G (p.Arg33099Gly) c.80911C>G (p.Arg26971Gly) c.102406C>G (p.Arg34136Gly) c.102403C>G (p.Arg34135Gly) c.101836C>G (p.Arg33946Gly) c.99178C>G (p.Arg33060Gly) c.99097C>G (p.Arg33033Gly) c.80860C>G (p.Arg26954Gly) c.70714C>G (p.Arg23572Gly) | |
2 | g.178527023G= | CA1310514273 | TTN,TTN-AS1 | c.100261C= (p.Arg33421=) c.81346C= (p.Arg27116=) c.81145C= (p.Arg27049=) c.80770C= (p.Arg26924=) c.107965C= (p.Arg35989=) c.103042C= (p.Arg34348=) n.446+3387G= n.219+3387G= c.107062C= (p.Arg35688=) c.80956C= (p.Arg26986=) c.80815C= (p.Arg26939=) c.106858C= (p.Arg35620=) c.102256C= (p.Arg34086=) c.102253C= (p.Arg34085=) c.99295C= (p.Arg33099=) c.80911C= (p.Arg26971=) c.102406C= (p.Arg34136=) c.102403C= (p.Arg34135=) c.101836C= (p.Arg33946=) c.99178C= (p.Arg33060=) c.99097C= (p.Arg33033=) c.80860C= (p.Arg26954=) c.70714C= (p.Arg23572=) | |
2 | g.178527023G>T | CA430091457 | TTN,TTN-AS1 | c.100261C>A (p.Arg33421=) c.81346C>A (p.Arg27116=) c.81145C>A (p.Arg27049=) c.80770C>A (p.Arg26924=) c.107965C>A (p.Arg35989=) c.103042C>A (p.Arg34348=) n.446+3387G>T n.219+3387G>T c.107062C>A (p.Arg35688=) c.80956C>A (p.Arg26986=) c.80815C>A (p.Arg26939=) c.106858C>A (p.Arg35620=) c.102256C>A (p.Arg34086=) c.102253C>A (p.Arg34085=) c.99295C>A (p.Arg33099=) c.80911C>A (p.Arg26971=) c.102406C>A (p.Arg34136=) c.102403C>A (p.Arg34135=) c.101836C>A (p.Arg33946=) c.99178C>A (p.Arg33060=) c.99097C>A (p.Arg33033=) c.80860C>A (p.Arg26954=) c.70714C>A (p.Arg23572=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178527024A>C | CA349398157 | TTN,TTN-AS1 | c.100260T>G (p.Ile33420Met) c.81345T>G (p.Ile27115Met) c.81144T>G (p.Ile27048Met) c.80769T>G (p.Ile26923Met) c.107964T>G (p.Ile35988Met) c.103041T>G (p.Ile34347Met) n.446+3388A>C n.219+3388A>C c.107061T>G (p.Ile35687Met) c.80955T>G (p.Ile26985Met) c.80814T>G (p.Ile26938Met) c.106857T>G (p.Ile35619Met) c.102255T>G (p.Ile34085Met) c.102252T>G (p.Ile34084Met) c.99294T>G (p.Ile33098Met) c.80910T>G (p.Ile26970Met) c.102405T>G (p.Ile34135Met) c.102402T>G (p.Ile34134Met) c.101835T>G (p.Ile33945Met) c.99177T>G (p.Ile33059Met) c.99096T>G (p.Ile33032Met) c.80859T>G (p.Ile26953Met) c.70713T>G (p.Ile23571Met) | |
2 | g.178527024A>G | CA430091458 | TTN,TTN-AS1 | c.100260T>C (p.Ile33420=) c.81345T>C (p.Ile27115=) c.81144T>C (p.Ile27048=) c.80769T>C (p.Ile26923=) c.107964T>C (p.Ile35988=) c.103041T>C (p.Ile34347=) n.446+3388A>G n.219+3388A>G c.107061T>C (p.Ile35687=) c.80955T>C (p.Ile26985=) c.80814T>C (p.Ile26938=) c.106857T>C (p.Ile35619=) c.102255T>C (p.Ile34085=) c.102252T>C (p.Ile34084=) c.99294T>C (p.Ile33098=) c.80910T>C (p.Ile26970=) c.102405T>C (p.Ile34135=) c.102402T>C (p.Ile34134=) c.101835T>C (p.Ile33945=) c.99177T>C (p.Ile33059=) c.99096T>C (p.Ile33032=) c.80859T>C (p.Ile26953=) c.70713T>C (p.Ile23571=) | |
2 | g.178527024A>T | CA430091459 | TTN,TTN-AS1 | c.100260T>A (p.Ile33420=) c.81345T>A (p.Ile27115=) c.81144T>A (p.Ile27048=) c.80769T>A (p.Ile26923=) c.107964T>A (p.Ile35988=) c.103041T>A (p.Ile34347=) n.446+3388A>T n.219+3388A>T c.107061T>A (p.Ile35687=) c.80955T>A (p.Ile26985=) c.80814T>A (p.Ile26938=) c.106857T>A (p.Ile35619=) c.102255T>A (p.Ile34085=) c.102252T>A (p.Ile34084=) c.99294T>A (p.Ile33098=) c.80910T>A (p.Ile26970=) c.102405T>A (p.Ile34135=) c.102402T>A (p.Ile34134=) c.101835T>A (p.Ile33945=) c.99177T>A (p.Ile33059=) c.99096T>A (p.Ile33032=) c.80859T>A (p.Ile26953=) c.70713T>A (p.Ile23571=) | |
2 | g.178527025A>C | CA349398158 | TTN,TTN-AS1 | c.100259T>G (p.Ile33420Ser) c.81344T>G (p.Ile27115Ser) c.81143T>G (p.Ile27048Ser) c.80768T>G (p.Ile26923Ser) c.107963T>G (p.Ile35988Ser) c.103040T>G (p.Ile34347Ser) n.446+3389A>C n.219+3389A>C c.107060T>G (p.Ile35687Ser) c.80954T>G (p.Ile26985Ser) c.80813T>G (p.Ile26938Ser) c.106856T>G (p.Ile35619Ser) c.102254T>G (p.Ile34085Ser) c.102251T>G (p.Ile34084Ser) c.99293T>G (p.Ile33098Ser) c.80909T>G (p.Ile26970Ser) c.102404T>G (p.Ile34135Ser) c.102401T>G (p.Ile34134Ser) c.101834T>G (p.Ile33945Ser) c.99176T>G (p.Ile33059Ser) c.99095T>G (p.Ile33032Ser) c.80858T>G (p.Ile26953Ser) c.70712T>G (p.Ile23571Ser) | |
2 | g.178527025A>G | CA349398159 | TTN,TTN-AS1 | c.100259T>C (p.Ile33420Thr) c.81344T>C (p.Ile27115Thr) c.81143T>C (p.Ile27048Thr) c.80768T>C (p.Ile26923Thr) c.107963T>C (p.Ile35988Thr) c.103040T>C (p.Ile34347Thr) n.446+3389A>G n.219+3389A>G c.107060T>C (p.Ile35687Thr) c.80954T>C (p.Ile26985Thr) c.80813T>C (p.Ile26938Thr) c.106856T>C (p.Ile35619Thr) c.102254T>C (p.Ile34085Thr) c.102251T>C (p.Ile34084Thr) c.99293T>C (p.Ile33098Thr) c.80909T>C (p.Ile26970Thr) c.102404T>C (p.Ile34135Thr) c.102401T>C (p.Ile34134Thr) c.101834T>C (p.Ile33945Thr) c.99176T>C (p.Ile33059Thr) c.99095T>C (p.Ile33032Thr) c.80858T>C (p.Ile26953Thr) c.70712T>C (p.Ile23571Thr) | |
2 | g.178527025A>T | CA349398160 | TTN,TTN-AS1 | c.100259T>A (p.Ile33420Asn) c.81344T>A (p.Ile27115Asn) c.81143T>A (p.Ile27048Asn) c.80768T>A (p.Ile26923Asn) c.107963T>A (p.Ile35988Asn) c.103040T>A (p.Ile34347Asn) n.446+3389A>T n.219+3389A>T c.107060T>A (p.Ile35687Asn) c.80954T>A (p.Ile26985Asn) c.80813T>A (p.Ile26938Asn) c.106856T>A (p.Ile35619Asn) c.102254T>A (p.Ile34085Asn) c.102251T>A (p.Ile34084Asn) c.99293T>A (p.Ile33098Asn) c.80909T>A (p.Ile26970Asn) c.102404T>A (p.Ile34135Asn) c.102401T>A (p.Ile34134Asn) c.101834T>A (p.Ile33945Asn) c.99176T>A (p.Ile33059Asn) c.99095T>A (p.Ile33032Asn) c.80858T>A (p.Ile26953Asn) c.70712T>A (p.Ile23571Asn) | |
2 | g.178527027_178527028del | CA2586970710 | TTN,TTN-AS1 | c.100258_100259del (p.Ile33420SerfsTer26) c.81343_81344del (p.Ile27115SerfsTer?) c.81142_81143del (p.Ile27048SerfsTer?) c.81343_81344del (p.Ile27115SerfsTer26) c.81142_81143del (p.Ile27048SerfsTer26) c.80767_80768del (p.Ile26923SerfsTer26) c.107962_107963del (p.Ile35988SerfsTer26) c.103039_103040del (p.Ile34347SerfsTer26) n.446+3391_446+3392del n.219+3391_219+3392del c.107059_107060del (p.Ile35687SerfsTer26) c.80953_80954del (p.Ile26985SerfsTer26) c.80812_80813del (p.Ile26938SerfsTer26) c.106855_106856del (p.Ile35619SerfsTer26) c.102253_102254del (p.Ile34085SerfsTer26) c.102250_102251del (p.Ile34084SerfsTer26) c.99292_99293del (p.Ile33098SerfsTer26) c.80908_80909del (p.Ile26970SerfsTer26) c.102403_102404del (p.Ile34135SerfsTer26) c.102400_102401del (p.Ile34134SerfsTer26) c.101833_101834del (p.Ile33945SerfsTer26) c.99175_99176del (p.Ile33059SerfsTer26) c.99094_99095del (p.Ile33032SerfsTer26) c.80857_80858del (p.Ile26953SerfsTer26) c.70711_70712del (p.Ile23571SerfsTer26) | |
2 | g.178527026T>A | CA349398163 | TTN,TTN-AS1 | c.100258A>T (p.Ile33420Phe) c.81343A>T (p.Ile27115Phe) c.81142A>T (p.Ile27048Phe) c.80767A>T (p.Ile26923Phe) c.107962A>T (p.Ile35988Phe) c.103039A>T (p.Ile34347Phe) n.446+3390T>A n.219+3390T>A c.107059A>T (p.Ile35687Phe) c.80953A>T (p.Ile26985Phe) c.80812A>T (p.Ile26938Phe) c.106855A>T (p.Ile35619Phe) c.102253A>T (p.Ile34085Phe) c.102250A>T (p.Ile34084Phe) c.99292A>T (p.Ile33098Phe) c.80908A>T (p.Ile26970Phe) c.102403A>T (p.Ile34135Phe) c.102400A>T (p.Ile34134Phe) c.101833A>T (p.Ile33945Phe) c.99175A>T (p.Ile33059Phe) c.99094A>T (p.Ile33032Phe) c.80857A>T (p.Ile26953Phe) c.70711A>T (p.Ile23571Phe) | |
2 | g.178527026T>C | CA349398161 | TTN,TTN-AS1 | c.100258A>G (p.Ile33420Val) c.81343A>G (p.Ile27115Val) c.81142A>G (p.Ile27048Val) c.80767A>G (p.Ile26923Val) c.107962A>G (p.Ile35988Val) c.103039A>G (p.Ile34347Val) n.446+3390T>C n.219+3390T>C c.107059A>G (p.Ile35687Val) c.80953A>G (p.Ile26985Val) c.80812A>G (p.Ile26938Val) c.106855A>G (p.Ile35619Val) c.102253A>G (p.Ile34085Val) c.102250A>G (p.Ile34084Val) c.99292A>G (p.Ile33098Val) c.80908A>G (p.Ile26970Val) c.102403A>G (p.Ile34135Val) c.102400A>G (p.Ile34134Val) c.101833A>G (p.Ile33945Val) c.99175A>G (p.Ile33059Val) c.99094A>G (p.Ile33032Val) c.80857A>G (p.Ile26953Val) c.70711A>G (p.Ile23571Val) | gnomAD v4 |
2 | g.178527026T>G | CA349398162 | TTN,TTN-AS1 | c.100258A>C (p.Ile33420Leu) c.81343A>C (p.Ile27115Leu) c.81142A>C (p.Ile27048Leu) c.80767A>C (p.Ile26923Leu) c.107962A>C (p.Ile35988Leu) c.103039A>C (p.Ile34347Leu) n.446+3390T>G n.219+3390T>G c.107059A>C (p.Ile35687Leu) c.80953A>C (p.Ile26985Leu) c.80812A>C (p.Ile26938Leu) c.106855A>C (p.Ile35619Leu) c.102253A>C (p.Ile34085Leu) c.102250A>C (p.Ile34084Leu) c.99292A>C (p.Ile33098Leu) c.80908A>C (p.Ile26970Leu) c.102403A>C (p.Ile34135Leu) c.102400A>C (p.Ile34134Leu) c.101833A>C (p.Ile33945Leu) c.99175A>C (p.Ile33059Leu) c.99094A>C (p.Ile33032Leu) c.80857A>C (p.Ile26953Leu) c.70711A>C (p.Ile23571Leu) | |
2 | g.178527027A= | CA1310514274 | TTN,TTN-AS1 | c.100257T= (p.His33419=) c.81342T= (p.His27114=) c.81141T= (p.His27047=) c.80766T= (p.His26922=) c.107961T= (p.His35987=) c.103038T= (p.His34346=) n.446+3391A= n.219+3391A= c.107058T= (p.His35686=) c.80952T= (p.His26984=) c.80811T= (p.His26937=) c.106854T= (p.His35618=) c.102252T= (p.His34084=) c.102249T= (p.His34083=) c.99291T= (p.His33097=) c.80907T= (p.His26969=) c.102402T= (p.His34134=) c.102399T= (p.His34133=) c.101832T= (p.His33944=) c.99174T= (p.His33058=) c.99093T= (p.His33031=) c.80856T= (p.His26952=) c.70710T= (p.His23570=) | |
2 | g.178527027A>C | CA349398164 | TTN,TTN-AS1 | c.100257T>G (p.His33419Gln) c.81342T>G (p.His27114Gln) c.81141T>G (p.His27047Gln) c.80766T>G (p.His26922Gln) c.107961T>G (p.His35987Gln) c.103038T>G (p.His34346Gln) n.446+3391A>C n.219+3391A>C c.107058T>G (p.His35686Gln) c.80952T>G (p.His26984Gln) c.80811T>G (p.His26937Gln) c.106854T>G (p.His35618Gln) c.102252T>G (p.His34084Gln) c.102249T>G (p.His34083Gln) c.99291T>G (p.His33097Gln) c.80907T>G (p.His26969Gln) c.102402T>G (p.His34134Gln) c.102399T>G (p.His34133Gln) c.101832T>G (p.His33944Gln) c.99174T>G (p.His33058Gln) c.99093T>G (p.His33031Gln) c.80856T>G (p.His26952Gln) c.70710T>G (p.His23570Gln) | |
2 | g.178527027A>G | CA295714 | TTN,TTN-AS1 | c.100257T>C (p.His33419=) c.81342T>C (p.His27114=) c.81141T>C (p.His27047=) c.80766T>C (p.His26922=) c.107961T>C (p.His35987=) c.103038T>C (p.His34346=) n.446+3391A>G n.219+3391A>G c.107058T>C (p.His35686=) c.80952T>C (p.His26984=) c.80811T>C (p.His26937=) c.106854T>C (p.His35618=) c.102252T>C (p.His34084=) c.102249T>C (p.His34083=) c.99291T>C (p.His33097=) c.80907T>C (p.His26969=) c.102402T>C (p.His34134=) c.102399T>C (p.His34133=) c.101832T>C (p.His33944=) c.99174T>C (p.His33058=) c.99093T>C (p.His33031=) c.80856T>C (p.His26952=) c.70710T>C (p.His23570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527027A>T | CA349398165 | TTN,TTN-AS1 | c.100257T>A (p.His33419Gln) c.81342T>A (p.His27114Gln) c.81141T>A (p.His27047Gln) c.80766T>A (p.His26922Gln) c.107961T>A (p.His35987Gln) c.103038T>A (p.His34346Gln) n.446+3391A>T n.219+3391A>T c.107058T>A (p.His35686Gln) c.80952T>A (p.His26984Gln) c.80811T>A (p.His26937Gln) c.106854T>A (p.His35618Gln) c.102252T>A (p.His34084Gln) c.102249T>A (p.His34083Gln) c.99291T>A (p.His33097Gln) c.80907T>A (p.His26969Gln) c.102402T>A (p.His34134Gln) c.102399T>A (p.His34133Gln) c.101832T>A (p.His33944Gln) c.99174T>A (p.His33058Gln) c.99093T>A (p.His33031Gln) c.80856T>A (p.His26952Gln) c.70710T>A (p.His23570Gln) | |
2 | g.178527028T>A | CA349398166 | TTN,TTN-AS1 | c.100256A>T (p.His33419Leu) c.81341A>T (p.His27114Leu) c.81140A>T (p.His27047Leu) c.80765A>T (p.His26922Leu) c.107960A>T (p.His35987Leu) c.103037A>T (p.His34346Leu) n.446+3392T>A n.219+3392T>A c.107057A>T (p.His35686Leu) c.80951A>T (p.His26984Leu) c.80810A>T (p.His26937Leu) c.106853A>T (p.His35618Leu) c.102251A>T (p.His34084Leu) c.102248A>T (p.His34083Leu) c.99290A>T (p.His33097Leu) c.80906A>T (p.His26969Leu) c.102401A>T (p.His34134Leu) c.102398A>T (p.His34133Leu) c.101831A>T (p.His33944Leu) c.99173A>T (p.His33058Leu) c.99092A>T (p.His33031Leu) c.80855A>T (p.His26952Leu) c.70709A>T (p.His23570Leu) | |
2 | g.178527028T>C | CA1984854 | TTN,TTN-AS1 | c.100256A>G (p.His33419Arg) c.81341A>G (p.His27114Arg) c.81140A>G (p.His27047Arg) c.80765A>G (p.His26922Arg) c.107960A>G (p.His35987Arg) c.103037A>G (p.His34346Arg) n.446+3392T>C n.219+3392T>C c.107057A>G (p.His35686Arg) c.80951A>G (p.His26984Arg) c.80810A>G (p.His26937Arg) c.106853A>G (p.His35618Arg) c.102251A>G (p.His34084Arg) c.102248A>G (p.His34083Arg) c.99290A>G (p.His33097Arg) c.80906A>G (p.His26969Arg) c.102401A>G (p.His34134Arg) c.102398A>G (p.His34133Arg) c.101831A>G (p.His33944Arg) c.99173A>G (p.His33058Arg) c.99092A>G (p.His33031Arg) c.80855A>G (p.His26952Arg) c.70709A>G (p.His23570Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527028T>G | CA349398167 | TTN,TTN-AS1 | c.100256A>C (p.His33419Pro) c.81341A>C (p.His27114Pro) c.81140A>C (p.His27047Pro) c.80765A>C (p.His26922Pro) c.107960A>C (p.His35987Pro) c.103037A>C (p.His34346Pro) n.446+3392T>G n.219+3392T>G c.107057A>C (p.His35686Pro) c.80951A>C (p.His26984Pro) c.80810A>C (p.His26937Pro) c.106853A>C (p.His35618Pro) c.102251A>C (p.His34084Pro) c.102248A>C (p.His34083Pro) c.99290A>C (p.His33097Pro) c.80906A>C (p.His26969Pro) c.102401A>C (p.His34134Pro) c.102398A>C (p.His34133Pro) c.101831A>C (p.His33944Pro) c.99173A>C (p.His33058Pro) c.99092A>C (p.His33031Pro) c.80855A>C (p.His26952Pro) c.70709A>C (p.His23570Pro) | |
2 | g.178527028T= | CA1310514275 | TTN,TTN-AS1 | c.100256A= (p.His33419=) c.81341A= (p.His27114=) c.81140A= (p.His27047=) c.80765A= (p.His26922=) c.107960A= (p.His35987=) c.103037A= (p.His34346=) n.446+3392T= n.219+3392T= c.107057A= (p.His35686=) c.80951A= (p.His26984=) c.80810A= (p.His26937=) c.106853A= (p.His35618=) c.102251A= (p.His34084=) c.102248A= (p.His34083=) c.99290A= (p.His33097=) c.80906A= (p.His26969=) c.102401A= (p.His34134=) c.102398A= (p.His34133=) c.101831A= (p.His33944=) c.99173A= (p.His33058=) c.99092A= (p.His33031=) c.80855A= (p.His26952=) c.70709A= (p.His23570=) | |
2 | g.178527029G>A | CA349398168 | TTN,TTN-AS1 | c.100255C>T (p.His33419Tyr) c.81340C>T (p.His27114Tyr) c.81139C>T (p.His27047Tyr) c.80764C>T (p.His26922Tyr) c.107959C>T (p.His35987Tyr) c.103036C>T (p.His34346Tyr) n.446+3393G>A n.219+3393G>A c.107056C>T (p.His35686Tyr) c.80950C>T (p.His26984Tyr) c.80809C>T (p.His26937Tyr) c.106852C>T (p.His35618Tyr) c.102250C>T (p.His34084Tyr) c.102247C>T (p.His34083Tyr) c.99289C>T (p.His33097Tyr) c.80905C>T (p.His26969Tyr) c.102400C>T (p.His34134Tyr) c.102397C>T (p.His34133Tyr) c.101830C>T (p.His33944Tyr) c.99172C>T (p.His33058Tyr) c.99091C>T (p.His33031Tyr) c.80854C>T (p.His26952Tyr) c.70708C>T (p.His23570Tyr) | |
2 | g.178527029G>C | CA349398169 | TTN,TTN-AS1 | c.100255C>G (p.His33419Asp) c.81340C>G (p.His27114Asp) c.81139C>G (p.His27047Asp) c.80764C>G (p.His26922Asp) c.107959C>G (p.His35987Asp) c.103036C>G (p.His34346Asp) n.446+3393G>C n.219+3393G>C c.107056C>G (p.His35686Asp) c.80950C>G (p.His26984Asp) c.80809C>G (p.His26937Asp) c.106852C>G (p.His35618Asp) c.102250C>G (p.His34084Asp) c.102247C>G (p.His34083Asp) c.99289C>G (p.His33097Asp) c.80905C>G (p.His26969Asp) c.102400C>G (p.His34134Asp) c.102397C>G (p.His34133Asp) c.101830C>G (p.His33944Asp) c.99172C>G (p.His33058Asp) c.99091C>G (p.His33031Asp) c.80854C>G (p.His26952Asp) c.70708C>G (p.His23570Asp) | |
2 | g.178527029G>T | CA349398170 | TTN,TTN-AS1 | c.100255C>A (p.His33419Asn) c.81340C>A (p.His27114Asn) c.81139C>A (p.His27047Asn) c.80764C>A (p.His26922Asn) c.107959C>A (p.His35987Asn) c.103036C>A (p.His34346Asn) n.446+3393G>T n.219+3393G>T c.107056C>A (p.His35686Asn) c.80950C>A (p.His26984Asn) c.80809C>A (p.His26937Asn) c.106852C>A (p.His35618Asn) c.102250C>A (p.His34084Asn) c.102247C>A (p.His34083Asn) c.99289C>A (p.His33097Asn) c.80905C>A (p.His26969Asn) c.102400C>A (p.His34134Asn) c.102397C>A (p.His34133Asn) c.101830C>A (p.His33944Asn) c.99172C>A (p.His33058Asn) c.99091C>A (p.His33031Asn) c.80854C>A (p.His26952Asn) c.70708C>A (p.His23570Asn) | dbSNP gnomAD v4 |
2 | g.178527030T>A | CA430091460 | TTN,TTN-AS1 | c.100254A>T (p.Ile33418=) c.81339A>T (p.Ile27113=) c.81138A>T (p.Ile27046=) c.80763A>T (p.Ile26921=) c.107958A>T (p.Ile35986=) c.103035A>T (p.Ile34345=) n.446+3394T>A n.219+3394T>A c.107055A>T (p.Ile35685=) c.80949A>T (p.Ile26983=) c.80808A>T (p.Ile26936=) c.106851A>T (p.Ile35617=) c.102249A>T (p.Ile34083=) c.102246A>T (p.Ile34082=) c.99288A>T (p.Ile33096=) c.80904A>T (p.Ile26968=) c.102399A>T (p.Ile34133=) c.102396A>T (p.Ile34132=) c.101829A>T (p.Ile33943=) c.99171A>T (p.Ile33057=) c.99090A>T (p.Ile33030=) c.80853A>T (p.Ile26951=) c.70707A>T (p.Ile23569=) | |
2 | g.178527030T>C | CA349398171 | TTN,TTN-AS1 | c.100254A>G (p.Ile33418Met) c.81339A>G (p.Ile27113Met) c.81138A>G (p.Ile27046Met) c.80763A>G (p.Ile26921Met) c.107958A>G (p.Ile35986Met) c.103035A>G (p.Ile34345Met) n.446+3394T>C n.219+3394T>C c.107055A>G (p.Ile35685Met) c.80949A>G (p.Ile26983Met) c.80808A>G (p.Ile26936Met) c.106851A>G (p.Ile35617Met) c.102249A>G (p.Ile34083Met) c.102246A>G (p.Ile34082Met) c.99288A>G (p.Ile33096Met) c.80904A>G (p.Ile26968Met) c.102399A>G (p.Ile34133Met) c.102396A>G (p.Ile34132Met) c.101829A>G (p.Ile33943Met) c.99171A>G (p.Ile33057Met) c.99090A>G (p.Ile33030Met) c.80853A>G (p.Ile26951Met) c.70707A>G (p.Ile23569Met) | gnomAD v4 |
2 | g.178527030T>G | CA430091461 | TTN,TTN-AS1 | c.100254A>C (p.Ile33418=) c.81339A>C (p.Ile27113=) c.81138A>C (p.Ile27046=) c.80763A>C (p.Ile26921=) c.107958A>C (p.Ile35986=) c.103035A>C (p.Ile34345=) n.446+3394T>G n.219+3394T>G c.107055A>C (p.Ile35685=) c.80949A>C (p.Ile26983=) c.80808A>C (p.Ile26936=) c.106851A>C (p.Ile35617=) c.102249A>C (p.Ile34083=) c.102246A>C (p.Ile34082=) c.99288A>C (p.Ile33096=) c.80904A>C (p.Ile26968=) c.102399A>C (p.Ile34133=) c.102396A>C (p.Ile34132=) c.101829A>C (p.Ile33943=) c.99171A>C (p.Ile33057=) c.99090A>C (p.Ile33030=) c.80853A>C (p.Ile26951=) c.70707A>C (p.Ile23569=) | |
2 | g.178527031A= | CA1310514276 | TTN,TTN-AS1 | c.100253T= (p.Ile33418=) c.81338T= (p.Ile27113=) c.81137T= (p.Ile27046=) c.80762T= (p.Ile26921=) c.107957T= (p.Ile35986=) c.103034T= (p.Ile34345=) n.446+3395A= n.219+3395A= c.107054T= (p.Ile35685=) c.80948T= (p.Ile26983=) c.80807T= (p.Ile26936=) c.106850T= (p.Ile35617=) c.102248T= (p.Ile34083=) c.102245T= (p.Ile34082=) c.99287T= (p.Ile33096=) c.80903T= (p.Ile26968=) c.102398T= (p.Ile34133=) c.102395T= (p.Ile34132=) c.101828T= (p.Ile33943=) c.99170T= (p.Ile33057=) c.99089T= (p.Ile33030=) c.80852T= (p.Ile26951=) c.70706T= (p.Ile23569=) | |
2 | g.178527031A>C | CA349398172 | TTN,TTN-AS1 | c.100253T>G (p.Ile33418Arg) c.81338T>G (p.Ile27113Arg) c.81137T>G (p.Ile27046Arg) c.80762T>G (p.Ile26921Arg) c.107957T>G (p.Ile35986Arg) c.103034T>G (p.Ile34345Arg) n.446+3395A>C n.219+3395A>C c.107054T>G (p.Ile35685Arg) c.80948T>G (p.Ile26983Arg) c.80807T>G (p.Ile26936Arg) c.106850T>G (p.Ile35617Arg) c.102248T>G (p.Ile34083Arg) c.102245T>G (p.Ile34082Arg) c.99287T>G (p.Ile33096Arg) c.80903T>G (p.Ile26968Arg) c.102398T>G (p.Ile34133Arg) c.102395T>G (p.Ile34132Arg) c.101828T>G (p.Ile33943Arg) c.99170T>G (p.Ile33057Arg) c.99089T>G (p.Ile33030Arg) c.80852T>G (p.Ile26951Arg) c.70706T>G (p.Ile23569Arg) | |
2 | g.178527031A>G | CA16610284 | TTN,TTN-AS1 | c.100253T>C (p.Ile33418Thr) c.81338T>C (p.Ile27113Thr) c.81137T>C (p.Ile27046Thr) c.80762T>C (p.Ile26921Thr) c.107957T>C (p.Ile35986Thr) c.103034T>C (p.Ile34345Thr) n.446+3395A>G n.219+3395A>G c.107054T>C (p.Ile35685Thr) c.80948T>C (p.Ile26983Thr) c.80807T>C (p.Ile26936Thr) c.106850T>C (p.Ile35617Thr) c.102248T>C (p.Ile34083Thr) c.102245T>C (p.Ile34082Thr) c.99287T>C (p.Ile33096Thr) c.80903T>C (p.Ile26968Thr) c.102398T>C (p.Ile34133Thr) c.102395T>C (p.Ile34132Thr) c.101828T>C (p.Ile33943Thr) c.99170T>C (p.Ile33057Thr) c.99089T>C (p.Ile33030Thr) c.80852T>C (p.Ile26951Thr) c.70706T>C (p.Ile23569Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527031A>T | CA349398173 | TTN,TTN-AS1 | c.100253T>A (p.Ile33418Lys) c.81338T>A (p.Ile27113Lys) c.81137T>A (p.Ile27046Lys) c.80762T>A (p.Ile26921Lys) c.107957T>A (p.Ile35986Lys) c.103034T>A (p.Ile34345Lys) n.446+3395A>T n.219+3395A>T c.107054T>A (p.Ile35685Lys) c.80948T>A (p.Ile26983Lys) c.80807T>A (p.Ile26936Lys) c.106850T>A (p.Ile35617Lys) c.102248T>A (p.Ile34083Lys) c.102245T>A (p.Ile34082Lys) c.99287T>A (p.Ile33096Lys) c.80903T>A (p.Ile26968Lys) c.102398T>A (p.Ile34133Lys) c.102395T>A (p.Ile34132Lys) c.101828T>A (p.Ile33943Lys) c.99170T>A (p.Ile33057Lys) c.99089T>A (p.Ile33030Lys) c.80852T>A (p.Ile26951Lys) c.70706T>A (p.Ile23569Lys) | |
2 | g.178527032T>A | CA349398175 | TTN,TTN-AS1 | c.100252A>T (p.Ile33418Leu) c.81337A>T (p.Ile27113Leu) c.81136A>T (p.Ile27046Leu) c.80761A>T (p.Ile26921Leu) c.107956A>T (p.Ile35986Leu) c.103033A>T (p.Ile34345Leu) n.446+3396T>A n.219+3396T>A c.107053A>T (p.Ile35685Leu) c.80947A>T (p.Ile26983Leu) c.80806A>T (p.Ile26936Leu) c.106849A>T (p.Ile35617Leu) c.102247A>T (p.Ile34083Leu) c.102244A>T (p.Ile34082Leu) c.99286A>T (p.Ile33096Leu) c.80902A>T (p.Ile26968Leu) c.102397A>T (p.Ile34133Leu) c.102394A>T (p.Ile34132Leu) c.101827A>T (p.Ile33943Leu) c.99169A>T (p.Ile33057Leu) c.99088A>T (p.Ile33030Leu) c.80851A>T (p.Ile26951Leu) c.70705A>T (p.Ile23569Leu) | |
2 | g.178527032T>C | CA16621775 | TTN,TTN-AS1 | c.100252A>G (p.Ile33418Val) c.81337A>G (p.Ile27113Val) c.81136A>G (p.Ile27046Val) c.80761A>G (p.Ile26921Val) c.107956A>G (p.Ile35986Val) c.103033A>G (p.Ile34345Val) n.446+3396T>C n.219+3396T>C c.107053A>G (p.Ile35685Val) c.80947A>G (p.Ile26983Val) c.80806A>G (p.Ile26936Val) c.106849A>G (p.Ile35617Val) c.102247A>G (p.Ile34083Val) c.102244A>G (p.Ile34082Val) c.99286A>G (p.Ile33096Val) c.80902A>G (p.Ile26968Val) c.102397A>G (p.Ile34133Val) c.102394A>G (p.Ile34132Val) c.101827A>G (p.Ile33943Val) c.99169A>G (p.Ile33057Val) c.99088A>G (p.Ile33030Val) c.80851A>G (p.Ile26951Val) c.70705A>G (p.Ile23569Val) | ClinVar dbSNP |
2 | g.178527032T>G | CA349398174 | TTN,TTN-AS1 | c.100252A>C (p.Ile33418Leu) c.81337A>C (p.Ile27113Leu) c.81136A>C (p.Ile27046Leu) c.80761A>C (p.Ile26921Leu) c.107956A>C (p.Ile35986Leu) c.103033A>C (p.Ile34345Leu) n.446+3396T>G n.219+3396T>G c.107053A>C (p.Ile35685Leu) c.80947A>C (p.Ile26983Leu) c.80806A>C (p.Ile26936Leu) c.106849A>C (p.Ile35617Leu) c.102247A>C (p.Ile34083Leu) c.102244A>C (p.Ile34082Leu) c.99286A>C (p.Ile33096Leu) c.80902A>C (p.Ile26968Leu) c.102397A>C (p.Ile34133Leu) c.102394A>C (p.Ile34132Leu) c.101827A>C (p.Ile33943Leu) c.99169A>C (p.Ile33057Leu) c.99088A>C (p.Ile33030Leu) c.80851A>C (p.Ile26951Leu) c.70705A>C (p.Ile23569Leu) | |
2 | g.178527032T= | CA1310514277 | TTN,TTN-AS1 | c.100252A= (p.Ile33418=) c.81337A= (p.Ile27113=) c.81136A= (p.Ile27046=) c.80761A= (p.Ile26921=) c.107956A= (p.Ile35986=) c.103033A= (p.Ile34345=) n.446+3396T= n.219+3396T= c.107053A= (p.Ile35685=) c.80947A= (p.Ile26983=) c.80806A= (p.Ile26936=) c.106849A= (p.Ile35617=) c.102247A= (p.Ile34083=) c.102244A= (p.Ile34082=) c.99286A= (p.Ile33096=) c.80902A= (p.Ile26968=) c.102397A= (p.Ile34133=) c.102394A= (p.Ile34132=) c.101827A= (p.Ile33943=) c.99169A= (p.Ile33057=) c.99088A= (p.Ile33030=) c.80851A= (p.Ile26951=) c.70705A= (p.Ile23569=) | |
2 | g.178527033A>C | CA349398176 | TTN,TTN-AS1 | c.100251T>G (p.Asn33417Lys) c.81336T>G (p.Asn27112Lys) c.81135T>G (p.Asn27045Lys) c.80760T>G (p.Asn26920Lys) c.107955T>G (p.Asn35985Lys) c.103032T>G (p.Asn34344Lys) n.446+3397A>C n.219+3397A>C c.107052T>G (p.Asn35684Lys) c.80946T>G (p.Asn26982Lys) c.80805T>G (p.Asn26935Lys) c.106848T>G (p.Asn35616Lys) c.102246T>G (p.Asn34082Lys) c.102243T>G (p.Asn34081Lys) c.99285T>G (p.Asn33095Lys) c.80901T>G (p.Asn26967Lys) c.102396T>G (p.Asn34132Lys) c.102393T>G (p.Asn34131Lys) c.101826T>G (p.Asn33942Lys) c.99168T>G (p.Asn33056Lys) c.99087T>G (p.Asn33029Lys) c.80850T>G (p.Asn26950Lys) c.70704T>G (p.Asn23568Lys) | |
2 | g.178527033A>G | CA430091462 | TTN,TTN-AS1 | c.100251T>C (p.Asn33417=) c.81336T>C (p.Asn27112=) c.81135T>C (p.Asn27045=) c.80760T>C (p.Asn26920=) c.107955T>C (p.Asn35985=) c.103032T>C (p.Asn34344=) n.446+3397A>G n.219+3397A>G c.107052T>C (p.Asn35684=) c.80946T>C (p.Asn26982=) c.80805T>C (p.Asn26935=) c.106848T>C (p.Asn35616=) c.102246T>C (p.Asn34082=) c.102243T>C (p.Asn34081=) c.99285T>C (p.Asn33095=) c.80901T>C (p.Asn26967=) c.102396T>C (p.Asn34132=) c.102393T>C (p.Asn34131=) c.101826T>C (p.Asn33942=) c.99168T>C (p.Asn33056=) c.99087T>C (p.Asn33029=) c.80850T>C (p.Asn26950=) c.70704T>C (p.Asn23568=) | |
2 | g.178527033A>T | CA349398177 | TTN,TTN-AS1 | c.100251T>A (p.Asn33417Lys) c.81336T>A (p.Asn27112Lys) c.81135T>A (p.Asn27045Lys) c.80760T>A (p.Asn26920Lys) c.107955T>A (p.Asn35985Lys) c.103032T>A (p.Asn34344Lys) n.446+3397A>T n.219+3397A>T c.107052T>A (p.Asn35684Lys) c.80946T>A (p.Asn26982Lys) c.80805T>A (p.Asn26935Lys) c.106848T>A (p.Asn35616Lys) c.102246T>A (p.Asn34082Lys) c.102243T>A (p.Asn34081Lys) c.99285T>A (p.Asn33095Lys) c.80901T>A (p.Asn26967Lys) c.102396T>A (p.Asn34132Lys) c.102393T>A (p.Asn34131Lys) c.101826T>A (p.Asn33942Lys) c.99168T>A (p.Asn33056Lys) c.99087T>A (p.Asn33029Lys) c.80850T>A (p.Asn26950Lys) c.70704T>A (p.Asn23568Lys) | |
2 | g.178527034T>A | CA349398178 | TTN,TTN-AS1 | c.100250A>T (p.Asn33417Ile) c.81335A>T (p.Asn27112Ile) c.81134A>T (p.Asn27045Ile) c.80759A>T (p.Asn26920Ile) c.107954A>T (p.Asn35985Ile) c.103031A>T (p.Asn34344Ile) n.446+3398T>A n.219+3398T>A c.107051A>T (p.Asn35684Ile) c.80945A>T (p.Asn26982Ile) c.80804A>T (p.Asn26935Ile) c.106847A>T (p.Asn35616Ile) c.102245A>T (p.Asn34082Ile) c.102242A>T (p.Asn34081Ile) c.99284A>T (p.Asn33095Ile) c.80900A>T (p.Asn26967Ile) c.102395A>T (p.Asn34132Ile) c.102392A>T (p.Asn34131Ile) c.101825A>T (p.Asn33942Ile) c.99167A>T (p.Asn33056Ile) c.99086A>T (p.Asn33029Ile) c.80849A>T (p.Asn26950Ile) c.70703A>T (p.Asn23568Ile) | |
2 | g.178527034T>C | CA349398179 | TTN,TTN-AS1 | c.100250A>G (p.Asn33417Ser) c.81335A>G (p.Asn27112Ser) c.81134A>G (p.Asn27045Ser) c.80759A>G (p.Asn26920Ser) c.107954A>G (p.Asn35985Ser) c.103031A>G (p.Asn34344Ser) n.446+3398T>C n.219+3398T>C c.107051A>G (p.Asn35684Ser) c.80945A>G (p.Asn26982Ser) c.80804A>G (p.Asn26935Ser) c.106847A>G (p.Asn35616Ser) c.102245A>G (p.Asn34082Ser) c.102242A>G (p.Asn34081Ser) c.99284A>G (p.Asn33095Ser) c.80900A>G (p.Asn26967Ser) c.102395A>G (p.Asn34132Ser) c.102392A>G (p.Asn34131Ser) c.101825A>G (p.Asn33942Ser) c.99167A>G (p.Asn33056Ser) c.99086A>G (p.Asn33029Ser) c.80849A>G (p.Asn26950Ser) c.70703A>G (p.Asn23568Ser) | |
2 | g.178527034T>G | CA349398180 | TTN,TTN-AS1 | c.100250A>C (p.Asn33417Thr) c.81335A>C (p.Asn27112Thr) c.81134A>C (p.Asn27045Thr) c.80759A>C (p.Asn26920Thr) c.107954A>C (p.Asn35985Thr) c.103031A>C (p.Asn34344Thr) n.446+3398T>G n.219+3398T>G c.107051A>C (p.Asn35684Thr) c.80945A>C (p.Asn26982Thr) c.80804A>C (p.Asn26935Thr) c.106847A>C (p.Asn35616Thr) c.102245A>C (p.Asn34082Thr) c.102242A>C (p.Asn34081Thr) c.99284A>C (p.Asn33095Thr) c.80900A>C (p.Asn26967Thr) c.102395A>C (p.Asn34132Thr) c.102392A>C (p.Asn34131Thr) c.101825A>C (p.Asn33942Thr) c.99167A>C (p.Asn33056Thr) c.99086A>C (p.Asn33029Thr) c.80849A>C (p.Asn26950Thr) c.70703A>C (p.Asn23568Thr) | |
2 | g.178527035T>A | CA349398183 | TTN,TTN-AS1 | c.100249A>T (p.Asn33417Tyr) c.81334A>T (p.Asn27112Tyr) c.81133A>T (p.Asn27045Tyr) c.80758A>T (p.Asn26920Tyr) c.107953A>T (p.Asn35985Tyr) c.103030A>T (p.Asn34344Tyr) n.446+3399T>A n.219+3399T>A c.107050A>T (p.Asn35684Tyr) c.80944A>T (p.Asn26982Tyr) c.80803A>T (p.Asn26935Tyr) c.106846A>T (p.Asn35616Tyr) c.102244A>T (p.Asn34082Tyr) c.102241A>T (p.Asn34081Tyr) c.99283A>T (p.Asn33095Tyr) c.80899A>T (p.Asn26967Tyr) c.102394A>T (p.Asn34132Tyr) c.102391A>T (p.Asn34131Tyr) c.101824A>T (p.Asn33942Tyr) c.99166A>T (p.Asn33056Tyr) c.99085A>T (p.Asn33029Tyr) c.80848A>T (p.Asn26950Tyr) c.70702A>T (p.Asn23568Tyr) | |
2 | g.178527035T>C | CA349398182 | TTN,TTN-AS1 | c.100249A>G (p.Asn33417Asp) c.81334A>G (p.Asn27112Asp) c.81133A>G (p.Asn27045Asp) c.80758A>G (p.Asn26920Asp) c.107953A>G (p.Asn35985Asp) c.103030A>G (p.Asn34344Asp) n.446+3399T>C n.219+3399T>C c.107050A>G (p.Asn35684Asp) c.80944A>G (p.Asn26982Asp) c.80803A>G (p.Asn26935Asp) c.106846A>G (p.Asn35616Asp) c.102244A>G (p.Asn34082Asp) c.102241A>G (p.Asn34081Asp) c.99283A>G (p.Asn33095Asp) c.80899A>G (p.Asn26967Asp) c.102394A>G (p.Asn34132Asp) c.102391A>G (p.Asn34131Asp) c.101824A>G (p.Asn33942Asp) c.99166A>G (p.Asn33056Asp) c.99085A>G (p.Asn33029Asp) c.80848A>G (p.Asn26950Asp) c.70702A>G (p.Asn23568Asp) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178527035T>G | CA349398181 | TTN,TTN-AS1 | c.100249A>C (p.Asn33417His) c.81334A>C (p.Asn27112His) c.81133A>C (p.Asn27045His) c.80758A>C (p.Asn26920His) c.107953A>C (p.Asn35985His) c.103030A>C (p.Asn34344His) n.446+3399T>G n.219+3399T>G c.107050A>C (p.Asn35684His) c.80944A>C (p.Asn26982His) c.80803A>C (p.Asn26935His) c.106846A>C (p.Asn35616His) c.102244A>C (p.Asn34082His) c.102241A>C (p.Asn34081His) c.99283A>C (p.Asn33095His) c.80899A>C (p.Asn26967His) c.102394A>C (p.Asn34132His) c.102391A>C (p.Asn34131His) c.101824A>C (p.Asn33942His) c.99166A>C (p.Asn33056His) c.99085A>C (p.Asn33029His) c.80848A>C (p.Asn26950His) c.70702A>C (p.Asn23568His) | |
2 | g.178527036C>A | CA430091463 | TTN,TTN-AS1 | c.100248G>T (p.Val33416=) c.81333G>T (p.Val27111=) c.81132G>T (p.Val27044=) c.80757G>T (p.Val26919=) c.107952G>T (p.Val35984=) c.103029G>T (p.Val34343=) n.446+3400C>A n.219+3400C>A c.107049G>T (p.Val35683=) c.80943G>T (p.Val26981=) c.80802G>T (p.Val26934=) c.106845G>T (p.Val35615=) c.102243G>T (p.Val34081=) c.102240G>T (p.Val34080=) c.99282G>T (p.Val33094=) c.80898G>T (p.Val26966=) c.102393G>T (p.Val34131=) c.102390G>T (p.Val34130=) c.101823G>T (p.Val33941=) c.99165G>T (p.Val33055=) c.99084G>T (p.Val33028=) c.80847G>T (p.Val26949=) c.70701G>T (p.Val23567=) | gnomAD v4 |
2 | g.178527036C= | CA1310514278 | TTN,TTN-AS1 | c.100248G= (p.Val33416=) c.81333G= (p.Val27111=) c.81132G= (p.Val27044=) c.80757G= (p.Val26919=) c.107952G= (p.Val35984=) c.103029G= (p.Val34343=) n.446+3400C= n.219+3400C= c.107049G= (p.Val35683=) c.80943G= (p.Val26981=) c.80802G= (p.Val26934=) c.106845G= (p.Val35615=) c.102243G= (p.Val34081=) c.102240G= (p.Val34080=) c.99282G= (p.Val33094=) c.80898G= (p.Val26966=) c.102393G= (p.Val34131=) c.102390G= (p.Val34130=) c.101823G= (p.Val33941=) c.99165G= (p.Val33055=) c.99084G= (p.Val33028=) c.80847G= (p.Val26949=) c.70701G= (p.Val23567=) | |
2 | g.178527036C>G | CA430091464 | TTN,TTN-AS1 | c.100248G>C (p.Val33416=) c.81333G>C (p.Val27111=) c.81132G>C (p.Val27044=) c.80757G>C (p.Val26919=) c.107952G>C (p.Val35984=) c.103029G>C (p.Val34343=) n.446+3400C>G n.219+3400C>G c.107049G>C (p.Val35683=) c.80943G>C (p.Val26981=) c.80802G>C (p.Val26934=) c.106845G>C (p.Val35615=) c.102243G>C (p.Val34081=) c.102240G>C (p.Val34080=) c.99282G>C (p.Val33094=) c.80898G>C (p.Val26966=) c.102393G>C (p.Val34131=) c.102390G>C (p.Val34130=) c.101823G>C (p.Val33941=) c.99165G>C (p.Val33055=) c.99084G>C (p.Val33028=) c.80847G>C (p.Val26949=) c.70701G>C (p.Val23567=) | |
2 | g.178527036C>T | CA430091465 | TTN,TTN-AS1 | c.100248G>A (p.Val33416=) c.81333G>A (p.Val27111=) c.81132G>A (p.Val27044=) c.80757G>A (p.Val26919=) c.107952G>A (p.Val35984=) c.103029G>A (p.Val34343=) n.446+3400C>T n.219+3400C>T c.107049G>A (p.Val35683=) c.80943G>A (p.Val26981=) c.80802G>A (p.Val26934=) c.106845G>A (p.Val35615=) c.102243G>A (p.Val34081=) c.102240G>A (p.Val34080=) c.99282G>A (p.Val33094=) c.80898G>A (p.Val26966=) c.102393G>A (p.Val34131=) c.102390G>A (p.Val34130=) c.101823G>A (p.Val33941=) c.99165G>A (p.Val33055=) c.99084G>A (p.Val33028=) c.80847G>A (p.Val26949=) c.70701G>A (p.Val23567=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527037A= | CA1310514279 | TTN,TTN-AS1 | c.100247T= (p.Val33416=) c.81332T= (p.Val27111=) c.81131T= (p.Val27044=) c.80756T= (p.Val26919=) c.107951T= (p.Val35984=) c.103028T= (p.Val34343=) n.446+3401A= n.219+3401A= c.107048T= (p.Val35683=) c.80942T= (p.Val26981=) c.80801T= (p.Val26934=) c.106844T= (p.Val35615=) c.102242T= (p.Val34081=) c.102239T= (p.Val34080=) c.99281T= (p.Val33094=) c.80897T= (p.Val26966=) c.102392T= (p.Val34131=) c.102389T= (p.Val34130=) c.101822T= (p.Val33941=) c.99164T= (p.Val33055=) c.99083T= (p.Val33028=) c.80846T= (p.Val26949=) c.70700T= (p.Val23567=) | |
2 | g.178527037A>C | CA349398184 | TTN,TTN-AS1 | c.100247T>G (p.Val33416Gly) c.81332T>G (p.Val27111Gly) c.81131T>G (p.Val27044Gly) c.80756T>G (p.Val26919Gly) c.107951T>G (p.Val35984Gly) c.103028T>G (p.Val34343Gly) n.446+3401A>C n.219+3401A>C c.107048T>G (p.Val35683Gly) c.80942T>G (p.Val26981Gly) c.80801T>G (p.Val26934Gly) c.106844T>G (p.Val35615Gly) c.102242T>G (p.Val34081Gly) c.102239T>G (p.Val34080Gly) c.99281T>G (p.Val33094Gly) c.80897T>G (p.Val26966Gly) c.102392T>G (p.Val34131Gly) c.102389T>G (p.Val34130Gly) c.101822T>G (p.Val33941Gly) c.99164T>G (p.Val33055Gly) c.99083T>G (p.Val33028Gly) c.80846T>G (p.Val26949Gly) c.70700T>G (p.Val23567Gly) | |
2 | g.178527037A>G | CA349398185 | TTN,TTN-AS1 | c.100247T>C (p.Val33416Ala) c.81332T>C (p.Val27111Ala) c.81131T>C (p.Val27044Ala) c.80756T>C (p.Val26919Ala) c.107951T>C (p.Val35984Ala) c.103028T>C (p.Val34343Ala) n.446+3401A>G n.219+3401A>G c.107048T>C (p.Val35683Ala) c.80942T>C (p.Val26981Ala) c.80801T>C (p.Val26934Ala) c.106844T>C (p.Val35615Ala) c.102242T>C (p.Val34081Ala) c.102239T>C (p.Val34080Ala) c.99281T>C (p.Val33094Ala) c.80897T>C (p.Val26966Ala) c.102392T>C (p.Val34131Ala) c.102389T>C (p.Val34130Ala) c.101822T>C (p.Val33941Ala) c.99164T>C (p.Val33055Ala) c.99083T>C (p.Val33028Ala) c.80846T>C (p.Val26949Ala) c.70700T>C (p.Val23567Ala) | dbSNP |
2 | g.178527037A>T | CA349398186 | TTN,TTN-AS1 | c.100247T>A (p.Val33416Glu) c.81332T>A (p.Val27111Glu) c.81131T>A (p.Val27044Glu) c.80756T>A (p.Val26919Glu) c.107951T>A (p.Val35984Glu) c.103028T>A (p.Val34343Glu) n.446+3401A>T n.219+3401A>T c.107048T>A (p.Val35683Glu) c.80942T>A (p.Val26981Glu) c.80801T>A (p.Val26934Glu) c.106844T>A (p.Val35615Glu) c.102242T>A (p.Val34081Glu) c.102239T>A (p.Val34080Glu) c.99281T>A (p.Val33094Glu) c.80897T>A (p.Val26966Glu) c.102392T>A (p.Val34131Glu) c.102389T>A (p.Val34130Glu) c.101822T>A (p.Val33941Glu) c.99164T>A (p.Val33055Glu) c.99083T>A (p.Val33028Glu) c.80846T>A (p.Val26949Glu) c.70700T>A (p.Val23567Glu) | |
2 | g.178527038C>A | CA349398187 | TTN,TTN-AS1 | c.100246G>T (p.Val33416Leu) c.81331G>T (p.Val27111Leu) c.81130G>T (p.Val27044Leu) c.80755G>T (p.Val26919Leu) c.107950G>T (p.Val35984Leu) c.103027G>T (p.Val34343Leu) n.446+3402C>A n.219+3402C>A c.107047G>T (p.Val35683Leu) c.80941G>T (p.Val26981Leu) c.80800G>T (p.Val26934Leu) c.106843G>T (p.Val35615Leu) c.102241G>T (p.Val34081Leu) c.102238G>T (p.Val34080Leu) c.99280G>T (p.Val33094Leu) c.80896G>T (p.Val26966Leu) c.102391G>T (p.Val34131Leu) c.102388G>T (p.Val34130Leu) c.101821G>T (p.Val33941Leu) c.99163G>T (p.Val33055Leu) c.99082G>T (p.Val33028Leu) c.80845G>T (p.Val26949Leu) c.70699G>T (p.Val23567Leu) | |
2 | g.178527038C>G | CA349398188 | TTN,TTN-AS1 | c.100246G>C (p.Val33416Leu) c.81331G>C (p.Val27111Leu) c.81130G>C (p.Val27044Leu) c.80755G>C (p.Val26919Leu) c.107950G>C (p.Val35984Leu) c.103027G>C (p.Val34343Leu) n.446+3402C>G n.219+3402C>G c.107047G>C (p.Val35683Leu) c.80941G>C (p.Val26981Leu) c.80800G>C (p.Val26934Leu) c.106843G>C (p.Val35615Leu) c.102241G>C (p.Val34081Leu) c.102238G>C (p.Val34080Leu) c.99280G>C (p.Val33094Leu) c.80896G>C (p.Val26966Leu) c.102391G>C (p.Val34131Leu) c.102388G>C (p.Val34130Leu) c.101821G>C (p.Val33941Leu) c.99163G>C (p.Val33055Leu) c.99082G>C (p.Val33028Leu) c.80845G>C (p.Val26949Leu) c.70699G>C (p.Val23567Leu) | |
2 | g.178527038C>T | CA349398189 | TTN,TTN-AS1 | c.100246G>A (p.Val33416Met) c.81331G>A (p.Val27111Met) c.81130G>A (p.Val27044Met) c.80755G>A (p.Val26919Met) c.107950G>A (p.Val35984Met) c.103027G>A (p.Val34343Met) n.446+3402C>T n.219+3402C>T c.107047G>A (p.Val35683Met) c.80941G>A (p.Val26981Met) c.80800G>A (p.Val26934Met) c.106843G>A (p.Val35615Met) c.102241G>A (p.Val34081Met) c.102238G>A (p.Val34080Met) c.99280G>A (p.Val33094Met) c.80896G>A (p.Val26966Met) c.102391G>A (p.Val34131Met) c.102388G>A (p.Val34130Met) c.101821G>A (p.Val33941Met) c.99163G>A (p.Val33055Met) c.99082G>A (p.Val33028Met) c.80845G>A (p.Val26949Met) c.70699G>A (p.Val23567Met) | |
2 | g.178527039A>C | CA430091468 | TTN,TTN-AS1 | c.100245T>G (p.Thr33415=) c.81330T>G (p.Thr27110=) c.81129T>G (p.Thr27043=) c.80754T>G (p.Thr26918=) c.107949T>G (p.Thr35983=) c.103026T>G (p.Thr34342=) n.446+3403A>C n.219+3403A>C c.107046T>G (p.Thr35682=) c.80940T>G (p.Thr26980=) c.80799T>G (p.Thr26933=) c.106842T>G (p.Thr35614=) c.102240T>G (p.Thr34080=) c.102237T>G (p.Thr34079=) c.99279T>G (p.Thr33093=) c.80895T>G (p.Thr26965=) c.102390T>G (p.Thr34130=) c.102387T>G (p.Thr34129=) c.101820T>G (p.Thr33940=) c.99162T>G (p.Thr33054=) c.99081T>G (p.Thr33027=) c.80844T>G (p.Thr26948=) c.70698T>G (p.Thr23566=) | |
2 | g.178527039A>G | CA430091467 | TTN,TTN-AS1 | c.100245T>C (p.Thr33415=) c.81330T>C (p.Thr27110=) c.81129T>C (p.Thr27043=) c.80754T>C (p.Thr26918=) c.107949T>C (p.Thr35983=) c.103026T>C (p.Thr34342=) n.446+3403A>G n.219+3403A>G c.107046T>C (p.Thr35682=) c.80940T>C (p.Thr26980=) c.80799T>C (p.Thr26933=) c.106842T>C (p.Thr35614=) c.102240T>C (p.Thr34080=) c.102237T>C (p.Thr34079=) c.99279T>C (p.Thr33093=) c.80895T>C (p.Thr26965=) c.102390T>C (p.Thr34130=) c.102387T>C (p.Thr34129=) c.101820T>C (p.Thr33940=) c.99162T>C (p.Thr33054=) c.99081T>C (p.Thr33027=) c.80844T>C (p.Thr26948=) c.70698T>C (p.Thr23566=) | ClinVar |
2 | g.178527039A>T | CA430091466 | TTN,TTN-AS1 | c.100245T>A (p.Thr33415=) c.81330T>A (p.Thr27110=) c.81129T>A (p.Thr27043=) c.80754T>A (p.Thr26918=) c.107949T>A (p.Thr35983=) c.103026T>A (p.Thr34342=) n.446+3403A>T n.219+3403A>T c.107046T>A (p.Thr35682=) c.80940T>A (p.Thr26980=) c.80799T>A (p.Thr26933=) c.106842T>A (p.Thr35614=) c.102240T>A (p.Thr34080=) c.102237T>A (p.Thr34079=) c.99279T>A (p.Thr33093=) c.80895T>A (p.Thr26965=) c.102390T>A (p.Thr34130=) c.102387T>A (p.Thr34129=) c.101820T>A (p.Thr33940=) c.99162T>A (p.Thr33054=) c.99081T>A (p.Thr33027=) c.80844T>A (p.Thr26948=) c.70698T>A (p.Thr23566=) | gnomAD v4 |
2 | g.178527040G>A | CA349398192 | TTN,TTN-AS1 | c.100244C>T (p.Thr33415Ile) c.81329C>T (p.Thr27110Ile) c.81128C>T (p.Thr27043Ile) c.80753C>T (p.Thr26918Ile) c.107948C>T (p.Thr35983Ile) c.103025C>T (p.Thr34342Ile) n.446+3404G>A n.219+3404G>A c.107045C>T (p.Thr35682Ile) c.80939C>T (p.Thr26980Ile) c.80798C>T (p.Thr26933Ile) c.106841C>T (p.Thr35614Ile) c.102239C>T (p.Thr34080Ile) c.102236C>T (p.Thr34079Ile) c.99278C>T (p.Thr33093Ile) c.80894C>T (p.Thr26965Ile) c.102389C>T (p.Thr34130Ile) c.102386C>T (p.Thr34129Ile) c.101819C>T (p.Thr33940Ile) c.99161C>T (p.Thr33054Ile) c.99080C>T (p.Thr33027Ile) c.80843C>T (p.Thr26948Ile) c.70697C>T (p.Thr23566Ile) | |
2 | g.178527040G>C | CA349398190 | TTN,TTN-AS1 | c.100244C>G (p.Thr33415Ser) c.81329C>G (p.Thr27110Ser) c.81128C>G (p.Thr27043Ser) c.80753C>G (p.Thr26918Ser) c.107948C>G (p.Thr35983Ser) c.103025C>G (p.Thr34342Ser) n.446+3404G>C n.219+3404G>C c.107045C>G (p.Thr35682Ser) c.80939C>G (p.Thr26980Ser) c.80798C>G (p.Thr26933Ser) c.106841C>G (p.Thr35614Ser) c.102239C>G (p.Thr34080Ser) c.102236C>G (p.Thr34079Ser) c.99278C>G (p.Thr33093Ser) c.80894C>G (p.Thr26965Ser) c.102389C>G (p.Thr34130Ser) c.102386C>G (p.Thr34129Ser) c.101819C>G (p.Thr33940Ser) c.99161C>G (p.Thr33054Ser) c.99080C>G (p.Thr33027Ser) c.80843C>G (p.Thr26948Ser) c.70697C>G (p.Thr23566Ser) | |
2 | g.178527040G>T | CA349398191 | TTN,TTN-AS1 | c.100244C>A (p.Thr33415Asn) c.81329C>A (p.Thr27110Asn) c.81128C>A (p.Thr27043Asn) c.80753C>A (p.Thr26918Asn) c.107948C>A (p.Thr35983Asn) c.103025C>A (p.Thr34342Asn) n.446+3404G>T n.219+3404G>T c.107045C>A (p.Thr35682Asn) c.80939C>A (p.Thr26980Asn) c.80798C>A (p.Thr26933Asn) c.106841C>A (p.Thr35614Asn) c.102239C>A (p.Thr34080Asn) c.102236C>A (p.Thr34079Asn) c.99278C>A (p.Thr33093Asn) c.80894C>A (p.Thr26965Asn) c.102389C>A (p.Thr34130Asn) c.102386C>A (p.Thr34129Asn) c.101819C>A (p.Thr33940Asn) c.99161C>A (p.Thr33054Asn) c.99080C>A (p.Thr33027Asn) c.80843C>A (p.Thr26948Asn) c.70697C>A (p.Thr23566Asn) | |
2 | g.178527041T>A | CA349398193 | TTN,TTN-AS1 | c.100243A>T (p.Thr33415Ser) c.81328A>T (p.Thr27110Ser) c.81127A>T (p.Thr27043Ser) c.80752A>T (p.Thr26918Ser) c.107947A>T (p.Thr35983Ser) c.103024A>T (p.Thr34342Ser) n.446+3405T>A n.219+3405T>A c.107044A>T (p.Thr35682Ser) c.80938A>T (p.Thr26980Ser) c.80797A>T (p.Thr26933Ser) c.106840A>T (p.Thr35614Ser) c.102238A>T (p.Thr34080Ser) c.102235A>T (p.Thr34079Ser) c.99277A>T (p.Thr33093Ser) c.80893A>T (p.Thr26965Ser) c.102388A>T (p.Thr34130Ser) c.102385A>T (p.Thr34129Ser) c.101818A>T (p.Thr33940Ser) c.99160A>T (p.Thr33054Ser) c.99079A>T (p.Thr33027Ser) c.80842A>T (p.Thr26948Ser) c.70696A>T (p.Thr23566Ser) | |
2 | g.178527041T>C | CA349398194 | TTN,TTN-AS1 | c.100243A>G (p.Thr33415Ala) c.81328A>G (p.Thr27110Ala) c.81127A>G (p.Thr27043Ala) c.80752A>G (p.Thr26918Ala) c.107947A>G (p.Thr35983Ala) c.103024A>G (p.Thr34342Ala) n.446+3405T>C n.219+3405T>C c.107044A>G (p.Thr35682Ala) c.80938A>G (p.Thr26980Ala) c.80797A>G (p.Thr26933Ala) c.106840A>G (p.Thr35614Ala) c.102238A>G (p.Thr34080Ala) c.102235A>G (p.Thr34079Ala) c.99277A>G (p.Thr33093Ala) c.80893A>G (p.Thr26965Ala) c.102388A>G (p.Thr34130Ala) c.102385A>G (p.Thr34129Ala) c.101818A>G (p.Thr33940Ala) c.99160A>G (p.Thr33054Ala) c.99079A>G (p.Thr33027Ala) c.80842A>G (p.Thr26948Ala) c.70696A>G (p.Thr23566Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527041T>G | CA1984855 | TTN,TTN-AS1 | c.100243A>C (p.Thr33415Pro) c.81328A>C (p.Thr27110Pro) c.81127A>C (p.Thr27043Pro) c.80752A>C (p.Thr26918Pro) c.107947A>C (p.Thr35983Pro) c.103024A>C (p.Thr34342Pro) n.446+3405T>G n.219+3405T>G c.107044A>C (p.Thr35682Pro) c.80938A>C (p.Thr26980Pro) c.80797A>C (p.Thr26933Pro) c.106840A>C (p.Thr35614Pro) c.102238A>C (p.Thr34080Pro) c.102235A>C (p.Thr34079Pro) c.99277A>C (p.Thr33093Pro) c.80893A>C (p.Thr26965Pro) c.102388A>C (p.Thr34130Pro) c.102385A>C (p.Thr34129Pro) c.101818A>C (p.Thr33940Pro) c.99160A>C (p.Thr33054Pro) c.99079A>C (p.Thr33027Pro) c.80842A>C (p.Thr26948Pro) c.70696A>C (p.Thr23566Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527041T= | CA1310514280 | TTN,TTN-AS1 | c.100243A= (p.Thr33415=) c.81328A= (p.Thr27110=) c.81127A= (p.Thr27043=) c.80752A= (p.Thr26918=) c.107947A= (p.Thr35983=) c.103024A= (p.Thr34342=) n.446+3405T= n.219+3405T= c.107044A= (p.Thr35682=) c.80938A= (p.Thr26980=) c.80797A= (p.Thr26933=) c.106840A= (p.Thr35614=) c.102238A= (p.Thr34080=) c.102235A= (p.Thr34079=) c.99277A= (p.Thr33093=) c.80893A= (p.Thr26965=) c.102388A= (p.Thr34130=) c.102385A= (p.Thr34129=) c.101818A= (p.Thr33940=) c.99160A= (p.Thr33054=) c.99079A= (p.Thr33027=) c.80842A= (p.Thr26948=) c.70696A= (p.Thr23566=) | |
2 | g.178527042G>A | CA430091469 | TTN,TTN-AS1 | c.100242C>T (p.Ala33414=) c.81327C>T (p.Ala27109=) c.81126C>T (p.Ala27042=) c.80751C>T (p.Ala26917=) c.107946C>T (p.Ala35982=) c.103023C>T (p.Ala34341=) n.446+3406G>A n.219+3406G>A c.107043C>T (p.Ala35681=) c.80937C>T (p.Ala26979=) c.80796C>T (p.Ala26932=) c.106839C>T (p.Ala35613=) c.102237C>T (p.Ala34079=) c.102234C>T (p.Ala34078=) c.99276C>T (p.Ala33092=) c.80892C>T (p.Ala26964=) c.102387C>T (p.Ala34129=) c.102384C>T (p.Ala34128=) c.101817C>T (p.Ala33939=) c.99159C>T (p.Ala33053=) c.99078C>T (p.Ala33026=) c.80841C>T (p.Ala26947=) c.70695C>T (p.Ala23565=) | dbSNP gnomAD v4 |
2 | g.178527042G>C | CA430091470 | TTN,TTN-AS1 | c.100242C>G (p.Ala33414=) c.81327C>G (p.Ala27109=) c.81126C>G (p.Ala27042=) c.80751C>G (p.Ala26917=) c.107946C>G (p.Ala35982=) c.103023C>G (p.Ala34341=) n.446+3406G>C n.219+3406G>C c.107043C>G (p.Ala35681=) c.80937C>G (p.Ala26979=) c.80796C>G (p.Ala26932=) c.106839C>G (p.Ala35613=) c.102237C>G (p.Ala34079=) c.102234C>G (p.Ala34078=) c.99276C>G (p.Ala33092=) c.80892C>G (p.Ala26964=) c.102387C>G (p.Ala34129=) c.102384C>G (p.Ala34128=) c.101817C>G (p.Ala33939=) c.99159C>G (p.Ala33053=) c.99078C>G (p.Ala33026=) c.80841C>G (p.Ala26947=) c.70695C>G (p.Ala23565=) | |
2 | g.178527042G>T | CA430091471 | TTN,TTN-AS1 | c.100242C>A (p.Ala33414=) c.81327C>A (p.Ala27109=) c.81126C>A (p.Ala27042=) c.80751C>A (p.Ala26917=) c.107946C>A (p.Ala35982=) c.103023C>A (p.Ala34341=) n.446+3406G>T n.219+3406G>T c.107043C>A (p.Ala35681=) c.80937C>A (p.Ala26979=) c.80796C>A (p.Ala26932=) c.106839C>A (p.Ala35613=) c.102237C>A (p.Ala34079=) c.102234C>A (p.Ala34078=) c.99276C>A (p.Ala33092=) c.80892C>A (p.Ala26964=) c.102387C>A (p.Ala34129=) c.102384C>A (p.Ala34128=) c.101817C>A (p.Ala33939=) c.99159C>A (p.Ala33053=) c.99078C>A (p.Ala33026=) c.80841C>A (p.Ala26947=) c.70695C>A (p.Ala23565=) | |
2 | g.178527043G>A | CA349398195 | TTN,TTN-AS1 | c.100241C>T (p.Ala33414Val) c.81326C>T (p.Ala27109Val) c.81125C>T (p.Ala27042Val) c.80750C>T (p.Ala26917Val) c.107945C>T (p.Ala35982Val) c.103022C>T (p.Ala34341Val) n.446+3407G>A n.219+3407G>A c.107042C>T (p.Ala35681Val) c.80936C>T (p.Ala26979Val) c.80795C>T (p.Ala26932Val) c.106838C>T (p.Ala35613Val) c.102236C>T (p.Ala34079Val) c.102233C>T (p.Ala34078Val) c.99275C>T (p.Ala33092Val) c.80891C>T (p.Ala26964Val) c.102386C>T (p.Ala34129Val) c.102383C>T (p.Ala34128Val) c.101816C>T (p.Ala33939Val) c.99158C>T (p.Ala33053Val) c.99077C>T (p.Ala33026Val) c.80840C>T (p.Ala26947Val) c.70694C>T (p.Ala23565Val) | gnomAD v4 |
2 | g.178527043G>C | CA349398196 | TTN,TTN-AS1 | c.100241C>G (p.Ala33414Gly) c.81326C>G (p.Ala27109Gly) c.81125C>G (p.Ala27042Gly) c.80750C>G (p.Ala26917Gly) c.107945C>G (p.Ala35982Gly) c.103022C>G (p.Ala34341Gly) n.446+3407G>C n.219+3407G>C c.107042C>G (p.Ala35681Gly) c.80936C>G (p.Ala26979Gly) c.80795C>G (p.Ala26932Gly) c.106838C>G (p.Ala35613Gly) c.102236C>G (p.Ala34079Gly) c.102233C>G (p.Ala34078Gly) c.99275C>G (p.Ala33092Gly) c.80891C>G (p.Ala26964Gly) c.102386C>G (p.Ala34129Gly) c.102383C>G (p.Ala34128Gly) c.101816C>G (p.Ala33939Gly) c.99158C>G (p.Ala33053Gly) c.99077C>G (p.Ala33026Gly) c.80840C>G (p.Ala26947Gly) c.70694C>G (p.Ala23565Gly) | |
2 | g.178527043G>T | CA349398197 | TTN,TTN-AS1 | c.100241C>A (p.Ala33414Asp) c.81326C>A (p.Ala27109Asp) c.81125C>A (p.Ala27042Asp) c.80750C>A (p.Ala26917Asp) c.107945C>A (p.Ala35982Asp) c.103022C>A (p.Ala34341Asp) n.446+3407G>T n.219+3407G>T c.107042C>A (p.Ala35681Asp) c.80936C>A (p.Ala26979Asp) c.80795C>A (p.Ala26932Asp) c.106838C>A (p.Ala35613Asp) c.102236C>A (p.Ala34079Asp) c.102233C>A (p.Ala34078Asp) c.99275C>A (p.Ala33092Asp) c.80891C>A (p.Ala26964Asp) c.102386C>A (p.Ala34129Asp) c.102383C>A (p.Ala34128Asp) c.101816C>A (p.Ala33939Asp) c.99158C>A (p.Ala33053Asp) c.99077C>A (p.Ala33026Asp) c.80840C>A (p.Ala26947Asp) c.70694C>A (p.Ala23565Asp) | dbSNP |
2 | g.178527044C>A | CA349398198 | TTN,TTN-AS1 | c.100240G>T (p.Ala33414Ser) c.81325G>T (p.Ala27109Ser) c.81124G>T (p.Ala27042Ser) c.80749G>T (p.Ala26917Ser) c.107944G>T (p.Ala35982Ser) c.103021G>T (p.Ala34341Ser) n.446+3408C>A n.219+3408C>A c.107041G>T (p.Ala35681Ser) c.80935G>T (p.Ala26979Ser) c.80794G>T (p.Ala26932Ser) c.106837G>T (p.Ala35613Ser) c.102235G>T (p.Ala34079Ser) c.102232G>T (p.Ala34078Ser) c.99274G>T (p.Ala33092Ser) c.80890G>T (p.Ala26964Ser) c.102385G>T (p.Ala34129Ser) c.102382G>T (p.Ala34128Ser) c.101815G>T (p.Ala33939Ser) c.99157G>T (p.Ala33053Ser) c.99076G>T (p.Ala33026Ser) c.80839G>T (p.Ala26947Ser) c.70693G>T (p.Ala23565Ser) | |
2 | g.178527044C>G | CA349398199 | TTN,TTN-AS1 | c.100240G>C (p.Ala33414Pro) c.81325G>C (p.Ala27109Pro) c.81124G>C (p.Ala27042Pro) c.80749G>C (p.Ala26917Pro) c.107944G>C (p.Ala35982Pro) c.103021G>C (p.Ala34341Pro) n.446+3408C>G n.219+3408C>G c.107041G>C (p.Ala35681Pro) c.80935G>C (p.Ala26979Pro) c.80794G>C (p.Ala26932Pro) c.106837G>C (p.Ala35613Pro) c.102235G>C (p.Ala34079Pro) c.102232G>C (p.Ala34078Pro) c.99274G>C (p.Ala33092Pro) c.80890G>C (p.Ala26964Pro) c.102385G>C (p.Ala34129Pro) c.102382G>C (p.Ala34128Pro) c.101815G>C (p.Ala33939Pro) c.99157G>C (p.Ala33053Pro) c.99076G>C (p.Ala33026Pro) c.80839G>C (p.Ala26947Pro) c.70693G>C (p.Ala23565Pro) | |
2 | g.178527044C>T | CA349398200 | TTN,TTN-AS1 | c.100240G>A (p.Ala33414Thr) c.81325G>A (p.Ala27109Thr) c.81124G>A (p.Ala27042Thr) c.80749G>A (p.Ala26917Thr) c.107944G>A (p.Ala35982Thr) c.103021G>A (p.Ala34341Thr) n.446+3408C>T n.219+3408C>T c.107041G>A (p.Ala35681Thr) c.80935G>A (p.Ala26979Thr) c.80794G>A (p.Ala26932Thr) c.106837G>A (p.Ala35613Thr) c.102235G>A (p.Ala34079Thr) c.102232G>A (p.Ala34078Thr) c.99274G>A (p.Ala33092Thr) c.80890G>A (p.Ala26964Thr) c.102385G>A (p.Ala34129Thr) c.102382G>A (p.Ala34128Thr) c.101815G>A (p.Ala33939Thr) c.99157G>A (p.Ala33053Thr) c.99076G>A (p.Ala33026Thr) c.80839G>A (p.Ala26947Thr) c.70693G>A (p.Ala23565Thr) | |
2 | g.178527045A>C | CA430091473 | TTN,TTN-AS1 | c.100239T>G (p.Ser33413=) c.81324T>G (p.Ser27108=) c.81123T>G (p.Ser27041=) c.80748T>G (p.Ser26916=) c.107943T>G (p.Ser35981=) c.103020T>G (p.Ser34340=) n.446+3409A>C n.219+3409A>C c.107040T>G (p.Ser35680=) c.80934T>G (p.Ser26978=) c.80793T>G (p.Ser26931=) c.106836T>G (p.Ser35612=) c.102234T>G (p.Ser34078=) c.102231T>G (p.Ser34077=) c.99273T>G (p.Ser33091=) c.80889T>G (p.Ser26963=) c.102384T>G (p.Ser34128=) c.102381T>G (p.Ser34127=) c.101814T>G (p.Ser33938=) c.99156T>G (p.Ser33052=) c.99075T>G (p.Ser33025=) c.80838T>G (p.Ser26946=) c.70692T>G (p.Ser23564=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178527045A>G | CA430091475 | TTN,TTN-AS1 | c.100239T>C (p.Ser33413=) c.81324T>C (p.Ser27108=) c.81123T>C (p.Ser27041=) c.80748T>C (p.Ser26916=) c.107943T>C (p.Ser35981=) c.103020T>C (p.Ser34340=) n.446+3409A>G n.219+3409A>G c.107040T>C (p.Ser35680=) c.80934T>C (p.Ser26978=) c.80793T>C (p.Ser26931=) c.106836T>C (p.Ser35612=) c.102234T>C (p.Ser34078=) c.102231T>C (p.Ser34077=) c.99273T>C (p.Ser33091=) c.80889T>C (p.Ser26963=) c.102384T>C (p.Ser34128=) c.102381T>C (p.Ser34127=) c.101814T>C (p.Ser33938=) c.99156T>C (p.Ser33052=) c.99075T>C (p.Ser33025=) c.80838T>C (p.Ser26946=) c.70692T>C (p.Ser23564=) | gnomAD v4 |
2 | g.178527045A>T | CA430091474 | TTN,TTN-AS1 | c.100239T>A (p.Ser33413=) c.81324T>A (p.Ser27108=) c.81123T>A (p.Ser27041=) c.80748T>A (p.Ser26916=) c.107943T>A (p.Ser35981=) c.103020T>A (p.Ser34340=) n.446+3409A>T n.219+3409A>T c.107040T>A (p.Ser35680=) c.80934T>A (p.Ser26978=) c.80793T>A (p.Ser26931=) c.106836T>A (p.Ser35612=) c.102234T>A (p.Ser34078=) c.102231T>A (p.Ser34077=) c.99273T>A (p.Ser33091=) c.80889T>A (p.Ser26963=) c.102384T>A (p.Ser34128=) c.102381T>A (p.Ser34127=) c.101814T>A (p.Ser33938=) c.99156T>A (p.Ser33052=) c.99075T>A (p.Ser33025=) c.80838T>A (p.Ser26946=) c.70692T>A (p.Ser23564=) | |
2 | g.178527046G>A | CA349398201 | TTN,TTN-AS1 | c.100238C>T (p.Ser33413Phe) c.81323C>T (p.Ser27108Phe) c.81122C>T (p.Ser27041Phe) c.80747C>T (p.Ser26916Phe) c.107942C>T (p.Ser35981Phe) c.103019C>T (p.Ser34340Phe) n.446+3410G>A n.219+3410G>A c.107039C>T (p.Ser35680Phe) c.80933C>T (p.Ser26978Phe) c.80792C>T (p.Ser26931Phe) c.106835C>T (p.Ser35612Phe) c.102233C>T (p.Ser34078Phe) c.102230C>T (p.Ser34077Phe) c.99272C>T (p.Ser33091Phe) c.80888C>T (p.Ser26963Phe) c.102383C>T (p.Ser34128Phe) c.102380C>T (p.Ser34127Phe) c.101813C>T (p.Ser33938Phe) c.99155C>T (p.Ser33052Phe) c.99074C>T (p.Ser33025Phe) c.80837C>T (p.Ser26946Phe) c.70691C>T (p.Ser23564Phe) | |
2 | g.178527046G>C | CA349398202 | TTN,TTN-AS1 | c.100238C>G (p.Ser33413Cys) c.81323C>G (p.Ser27108Cys) c.81122C>G (p.Ser27041Cys) c.80747C>G (p.Ser26916Cys) c.107942C>G (p.Ser35981Cys) c.103019C>G (p.Ser34340Cys) n.446+3410G>C n.219+3410G>C c.107039C>G (p.Ser35680Cys) c.80933C>G (p.Ser26978Cys) c.80792C>G (p.Ser26931Cys) c.106835C>G (p.Ser35612Cys) c.102233C>G (p.Ser34078Cys) c.102230C>G (p.Ser34077Cys) c.99272C>G (p.Ser33091Cys) c.80888C>G (p.Ser26963Cys) c.102383C>G (p.Ser34128Cys) c.102380C>G (p.Ser34127Cys) c.101813C>G (p.Ser33938Cys) c.99155C>G (p.Ser33052Cys) c.99074C>G (p.Ser33025Cys) c.80837C>G (p.Ser26946Cys) c.70691C>G (p.Ser23564Cys) | |
2 | g.178527046G>T | CA349398203 | TTN,TTN-AS1 | c.100238C>A (p.Ser33413Tyr) c.81323C>A (p.Ser27108Tyr) c.81122C>A (p.Ser27041Tyr) c.80747C>A (p.Ser26916Tyr) c.107942C>A (p.Ser35981Tyr) c.103019C>A (p.Ser34340Tyr) n.446+3410G>T n.219+3410G>T c.107039C>A (p.Ser35680Tyr) c.80933C>A (p.Ser26978Tyr) c.80792C>A (p.Ser26931Tyr) c.106835C>A (p.Ser35612Tyr) c.102233C>A (p.Ser34078Tyr) c.102230C>A (p.Ser34077Tyr) c.99272C>A (p.Ser33091Tyr) c.80888C>A (p.Ser26963Tyr) c.102383C>A (p.Ser34128Tyr) c.102380C>A (p.Ser34127Tyr) c.101813C>A (p.Ser33938Tyr) c.99155C>A (p.Ser33052Tyr) c.99074C>A (p.Ser33025Tyr) c.80837C>A (p.Ser26946Tyr) c.70691C>A (p.Ser23564Tyr) | |
2 | g.178527047A>C | CA349398205 | TTN,TTN-AS1 | c.100237T>G (p.Ser33413Ala) c.81322T>G (p.Ser27108Ala) c.81121T>G (p.Ser27041Ala) c.80746T>G (p.Ser26916Ala) c.107941T>G (p.Ser35981Ala) c.103018T>G (p.Ser34340Ala) n.446+3411A>C n.219+3411A>C c.107038T>G (p.Ser35680Ala) c.80932T>G (p.Ser26978Ala) c.80791T>G (p.Ser26931Ala) c.106834T>G (p.Ser35612Ala) c.102232T>G (p.Ser34078Ala) c.102229T>G (p.Ser34077Ala) c.99271T>G (p.Ser33091Ala) c.80887T>G (p.Ser26963Ala) c.102382T>G (p.Ser34128Ala) c.102379T>G (p.Ser34127Ala) c.101812T>G (p.Ser33938Ala) c.99154T>G (p.Ser33052Ala) c.99073T>G (p.Ser33025Ala) c.80836T>G (p.Ser26946Ala) c.70690T>G (p.Ser23564Ala) | |
2 | g.178527047A>G | CA349398208 | TTN,TTN-AS1 | c.100237T>C (p.Ser33413Pro) c.81322T>C (p.Ser27108Pro) c.81121T>C (p.Ser27041Pro) c.80746T>C (p.Ser26916Pro) c.107941T>C (p.Ser35981Pro) c.103018T>C (p.Ser34340Pro) n.446+3411A>G n.219+3411A>G c.107038T>C (p.Ser35680Pro) c.80932T>C (p.Ser26978Pro) c.80791T>C (p.Ser26931Pro) c.106834T>C (p.Ser35612Pro) c.102232T>C (p.Ser34078Pro) c.102229T>C (p.Ser34077Pro) c.99271T>C (p.Ser33091Pro) c.80887T>C (p.Ser26963Pro) c.102382T>C (p.Ser34128Pro) c.102379T>C (p.Ser34127Pro) c.101812T>C (p.Ser33938Pro) c.99154T>C (p.Ser33052Pro) c.99073T>C (p.Ser33025Pro) c.80836T>C (p.Ser26946Pro) c.70690T>C (p.Ser23564Pro) | gnomAD v4 |
2 | g.178527047A>T | CA349398207 | TTN,TTN-AS1 | c.100237T>A (p.Ser33413Thr) c.81322T>A (p.Ser27108Thr) c.81121T>A (p.Ser27041Thr) c.80746T>A (p.Ser26916Thr) c.107941T>A (p.Ser35981Thr) c.103018T>A (p.Ser34340Thr) n.446+3411A>T n.219+3411A>T c.107038T>A (p.Ser35680Thr) c.80932T>A (p.Ser26978Thr) c.80791T>A (p.Ser26931Thr) c.106834T>A (p.Ser35612Thr) c.102232T>A (p.Ser34078Thr) c.102229T>A (p.Ser34077Thr) c.99271T>A (p.Ser33091Thr) c.80887T>A (p.Ser26963Thr) c.102382T>A (p.Ser34128Thr) c.102379T>A (p.Ser34127Thr) c.101812T>A (p.Ser33938Thr) c.99154T>A (p.Ser33052Thr) c.99073T>A (p.Ser33025Thr) c.80836T>A (p.Ser26946Thr) c.70690T>A (p.Ser23564Thr) | |
2 | g.178527048G>A | CA430091478 | TTN,TTN-AS1 | c.100236C>T (p.Asp33412=) c.81321C>T (p.Asp27107=) c.81120C>T (p.Asp27040=) c.80745C>T (p.Asp26915=) c.107940C>T (p.Asp35980=) c.103017C>T (p.Asp34339=) n.446+3412G>A n.219+3412G>A c.107037C>T (p.Asp35679=) c.80931C>T (p.Asp26977=) c.80790C>T (p.Asp26930=) c.106833C>T (p.Asp35611=) c.102231C>T (p.Asp34077=) c.102228C>T (p.Asp34076=) c.99270C>T (p.Asp33090=) c.80886C>T (p.Asp26962=) c.102381C>T (p.Asp34127=) c.102378C>T (p.Asp34126=) c.101811C>T (p.Asp33937=) c.99153C>T (p.Asp33051=) c.99072C>T (p.Asp33024=) c.80835C>T (p.Asp26945=) c.70689C>T (p.Asp23563=) | ClinVar gnomAD v4 |
2 | g.178527048G>C | CA349398210 | TTN,TTN-AS1 | c.100236C>G (p.Asp33412Glu) c.81321C>G (p.Asp27107Glu) c.81120C>G (p.Asp27040Glu) c.80745C>G (p.Asp26915Glu) c.107940C>G (p.Asp35980Glu) c.103017C>G (p.Asp34339Glu) n.446+3412G>C n.219+3412G>C c.107037C>G (p.Asp35679Glu) c.80931C>G (p.Asp26977Glu) c.80790C>G (p.Asp26930Glu) c.106833C>G (p.Asp35611Glu) c.102231C>G (p.Asp34077Glu) c.102228C>G (p.Asp34076Glu) c.99270C>G (p.Asp33090Glu) c.80886C>G (p.Asp26962Glu) c.102381C>G (p.Asp34127Glu) c.102378C>G (p.Asp34126Glu) c.101811C>G (p.Asp33937Glu) c.99153C>G (p.Asp33051Glu) c.99072C>G (p.Asp33024Glu) c.80835C>G (p.Asp26945Glu) c.70689C>G (p.Asp23563Glu) | |
2 | g.178527048G>T | CA349398211 | TTN,TTN-AS1 | c.100236C>A (p.Asp33412Glu) c.81321C>A (p.Asp27107Glu) c.81120C>A (p.Asp27040Glu) c.80745C>A (p.Asp26915Glu) c.107940C>A (p.Asp35980Glu) c.103017C>A (p.Asp34339Glu) n.446+3412G>T n.219+3412G>T c.107037C>A (p.Asp35679Glu) c.80931C>A (p.Asp26977Glu) c.80790C>A (p.Asp26930Glu) c.106833C>A (p.Asp35611Glu) c.102231C>A (p.Asp34077Glu) c.102228C>A (p.Asp34076Glu) c.99270C>A (p.Asp33090Glu) c.80886C>A (p.Asp26962Glu) c.102381C>A (p.Asp34127Glu) c.102378C>A (p.Asp34126Glu) c.101811C>A (p.Asp33937Glu) c.99153C>A (p.Asp33051Glu) c.99072C>A (p.Asp33024Glu) c.80835C>A (p.Asp26945Glu) c.70689C>A (p.Asp23563Glu) | |
2 | g.178527049T>A | CA349398214 | TTN,TTN-AS1 | c.100235A>T (p.Asp33412Val) c.81320A>T (p.Asp27107Val) c.81119A>T (p.Asp27040Val) c.80744A>T (p.Asp26915Val) c.107939A>T (p.Asp35980Val) c.103016A>T (p.Asp34339Val) n.446+3413T>A n.219+3413T>A c.107036A>T (p.Asp35679Val) c.80930A>T (p.Asp26977Val) c.80789A>T (p.Asp26930Val) c.106832A>T (p.Asp35611Val) c.102230A>T (p.Asp34077Val) c.102227A>T (p.Asp34076Val) c.99269A>T (p.Asp33090Val) c.80885A>T (p.Asp26962Val) c.102380A>T (p.Asp34127Val) c.102377A>T (p.Asp34126Val) c.101810A>T (p.Asp33937Val) c.99152A>T (p.Asp33051Val) c.99071A>T (p.Asp33024Val) c.80834A>T (p.Asp26945Val) c.70688A>T (p.Asp23563Val) | |
2 | g.178527049T>C | CA349398215 | TTN,TTN-AS1 | c.100235A>G (p.Asp33412Gly) c.81320A>G (p.Asp27107Gly) c.81119A>G (p.Asp27040Gly) c.80744A>G (p.Asp26915Gly) c.107939A>G (p.Asp35980Gly) c.103016A>G (p.Asp34339Gly) n.446+3413T>C n.219+3413T>C c.107036A>G (p.Asp35679Gly) c.80930A>G (p.Asp26977Gly) c.80789A>G (p.Asp26930Gly) c.106832A>G (p.Asp35611Gly) c.102230A>G (p.Asp34077Gly) c.102227A>G (p.Asp34076Gly) c.99269A>G (p.Asp33090Gly) c.80885A>G (p.Asp26962Gly) c.102380A>G (p.Asp34127Gly) c.102377A>G (p.Asp34126Gly) c.101810A>G (p.Asp33937Gly) c.99152A>G (p.Asp33051Gly) c.99071A>G (p.Asp33024Gly) c.80834A>G (p.Asp26945Gly) c.70688A>G (p.Asp23563Gly) | |
2 | g.178527049T>G | CA349398216 | TTN,TTN-AS1 | c.100235A>C (p.Asp33412Ala) c.81320A>C (p.Asp27107Ala) c.81119A>C (p.Asp27040Ala) c.80744A>C (p.Asp26915Ala) c.107939A>C (p.Asp35980Ala) c.103016A>C (p.Asp34339Ala) n.446+3413T>G n.219+3413T>G c.107036A>C (p.Asp35679Ala) c.80930A>C (p.Asp26977Ala) c.80789A>C (p.Asp26930Ala) c.106832A>C (p.Asp35611Ala) c.102230A>C (p.Asp34077Ala) c.102227A>C (p.Asp34076Ala) c.99269A>C (p.Asp33090Ala) c.80885A>C (p.Asp26962Ala) c.102380A>C (p.Asp34127Ala) c.102377A>C (p.Asp34126Ala) c.101810A>C (p.Asp33937Ala) c.99152A>C (p.Asp33051Ala) c.99071A>C (p.Asp33024Ala) c.80834A>C (p.Asp26945Ala) c.70688A>C (p.Asp23563Ala) | |
2 | g.178527050C>A | CA349398218 | TTN,TTN-AS1 | c.100234G>T (p.Asp33412Tyr) c.81319G>T (p.Asp27107Tyr) c.81118G>T (p.Asp27040Tyr) c.80743G>T (p.Asp26915Tyr) c.107938G>T (p.Asp35980Tyr) c.103015G>T (p.Asp34339Tyr) n.446+3414C>A n.219+3414C>A c.107035G>T (p.Asp35679Tyr) c.80929G>T (p.Asp26977Tyr) c.80788G>T (p.Asp26930Tyr) c.106831G>T (p.Asp35611Tyr) c.102229G>T (p.Asp34077Tyr) c.102226G>T (p.Asp34076Tyr) c.99268G>T (p.Asp33090Tyr) c.80884G>T (p.Asp26962Tyr) c.102379G>T (p.Asp34127Tyr) c.102376G>T (p.Asp34126Tyr) c.101809G>T (p.Asp33937Tyr) c.99151G>T (p.Asp33051Tyr) c.99070G>T (p.Asp33024Tyr) c.80833G>T (p.Asp26945Tyr) c.70687G>T (p.Asp23563Tyr) | |
2 | g.178527050C>G | CA349398219 | TTN,TTN-AS1 | c.100234G>C (p.Asp33412His) c.81319G>C (p.Asp27107His) c.81118G>C (p.Asp27040His) c.80743G>C (p.Asp26915His) c.107938G>C (p.Asp35980His) c.103015G>C (p.Asp34339His) n.446+3414C>G n.219+3414C>G c.107035G>C (p.Asp35679His) c.80929G>C (p.Asp26977His) c.80788G>C (p.Asp26930His) c.106831G>C (p.Asp35611His) c.102229G>C (p.Asp34077His) c.102226G>C (p.Asp34076His) c.99268G>C (p.Asp33090His) c.80884G>C (p.Asp26962His) c.102379G>C (p.Asp34127His) c.102376G>C (p.Asp34126His) c.101809G>C (p.Asp33937His) c.99151G>C (p.Asp33051His) c.99070G>C (p.Asp33024His) c.80833G>C (p.Asp26945His) c.70687G>C (p.Asp23563His) | gnomAD v4 |
2 | g.178527050C>T | CA349398221 | TTN,TTN-AS1 | c.100234G>A (p.Asp33412Asn) c.81319G>A (p.Asp27107Asn) c.81118G>A (p.Asp27040Asn) c.80743G>A (p.Asp26915Asn) c.107938G>A (p.Asp35980Asn) c.103015G>A (p.Asp34339Asn) n.446+3414C>T n.219+3414C>T c.107035G>A (p.Asp35679Asn) c.80929G>A (p.Asp26977Asn) c.80788G>A (p.Asp26930Asn) c.106831G>A (p.Asp35611Asn) c.102229G>A (p.Asp34077Asn) c.102226G>A (p.Asp34076Asn) c.99268G>A (p.Asp33090Asn) c.80884G>A (p.Asp26962Asn) c.102379G>A (p.Asp34127Asn) c.102376G>A (p.Asp34126Asn) c.101809G>A (p.Asp33937Asn) c.99151G>A (p.Asp33051Asn) c.99070G>A (p.Asp33024Asn) c.80833G>A (p.Asp26945Asn) c.70687G>A (p.Asp23563Asn) | |
2 | g.178527051A>C | CA430091480 | TTN,TTN-AS1 | c.100233T>G (p.Ser33411=) c.81318T>G (p.Ser27106=) c.81117T>G (p.Ser27039=) c.80742T>G (p.Ser26914=) c.107937T>G (p.Ser35979=) c.103014T>G (p.Ser34338=) n.446+3415A>C n.219+3415A>C c.107034T>G (p.Ser35678=) c.80928T>G (p.Ser26976=) c.80787T>G (p.Ser26929=) c.106830T>G (p.Ser35610=) c.102228T>G (p.Ser34076=) c.102225T>G (p.Ser34075=) c.99267T>G (p.Ser33089=) c.80883T>G (p.Ser26961=) c.102378T>G (p.Ser34126=) c.102375T>G (p.Ser34125=) c.101808T>G (p.Ser33936=) c.99150T>G (p.Ser33050=) c.99069T>G (p.Ser33023=) c.80832T>G (p.Ser26944=) c.70686T>G (p.Ser23562=) | |
2 | g.178527051A>G | CA430091482 | TTN,TTN-AS1 | c.100233T>C (p.Ser33411=) c.81318T>C (p.Ser27106=) c.81117T>C (p.Ser27039=) c.80742T>C (p.Ser26914=) c.107937T>C (p.Ser35979=) c.103014T>C (p.Ser34338=) n.446+3415A>G n.219+3415A>G c.107034T>C (p.Ser35678=) c.80928T>C (p.Ser26976=) c.80787T>C (p.Ser26929=) c.106830T>C (p.Ser35610=) c.102228T>C (p.Ser34076=) c.102225T>C (p.Ser34075=) c.99267T>C (p.Ser33089=) c.80883T>C (p.Ser26961=) c.102378T>C (p.Ser34126=) c.102375T>C (p.Ser34125=) c.101808T>C (p.Ser33936=) c.99150T>C (p.Ser33050=) c.99069T>C (p.Ser33023=) c.80832T>C (p.Ser26944=) c.70686T>C (p.Ser23562=) | |
2 | g.178527051A>T | CA430091484 | TTN,TTN-AS1 | c.100233T>A (p.Ser33411=) c.81318T>A (p.Ser27106=) c.81117T>A (p.Ser27039=) c.80742T>A (p.Ser26914=) c.107937T>A (p.Ser35979=) c.103014T>A (p.Ser34338=) n.446+3415A>T n.219+3415A>T c.107034T>A (p.Ser35678=) c.80928T>A (p.Ser26976=) c.80787T>A (p.Ser26929=) c.106830T>A (p.Ser35610=) c.102228T>A (p.Ser34076=) c.102225T>A (p.Ser34075=) c.99267T>A (p.Ser33089=) c.80883T>A (p.Ser26961=) c.102378T>A (p.Ser34126=) c.102375T>A (p.Ser34125=) c.101808T>A (p.Ser33936=) c.99150T>A (p.Ser33050=) c.99069T>A (p.Ser33023=) c.80832T>A (p.Ser26944=) c.70686T>A (p.Ser23562=) | |
2 | g.178527052G>A | CA349398224 | TTN,TTN-AS1 | c.100232C>T (p.Ser33411Phe) c.81317C>T (p.Ser27106Phe) c.81116C>T (p.Ser27039Phe) c.80741C>T (p.Ser26914Phe) c.107936C>T (p.Ser35979Phe) c.103013C>T (p.Ser34338Phe) n.446+3416G>A n.219+3416G>A c.107033C>T (p.Ser35678Phe) c.80927C>T (p.Ser26976Phe) c.80786C>T (p.Ser26929Phe) c.106829C>T (p.Ser35610Phe) c.102227C>T (p.Ser34076Phe) c.102224C>T (p.Ser34075Phe) c.99266C>T (p.Ser33089Phe) c.80882C>T (p.Ser26961Phe) c.102377C>T (p.Ser34126Phe) c.102374C>T (p.Ser34125Phe) c.101807C>T (p.Ser33936Phe) c.99149C>T (p.Ser33050Phe) c.99068C>T (p.Ser33023Phe) c.80831C>T (p.Ser26944Phe) c.70685C>T (p.Ser23562Phe) | |
2 | g.178527052G>C | CA349398225 | TTN,TTN-AS1 | c.100232C>G (p.Ser33411Cys) c.81317C>G (p.Ser27106Cys) c.81116C>G (p.Ser27039Cys) c.80741C>G (p.Ser26914Cys) c.107936C>G (p.Ser35979Cys) c.103013C>G (p.Ser34338Cys) n.446+3416G>C n.219+3416G>C c.107033C>G (p.Ser35678Cys) c.80927C>G (p.Ser26976Cys) c.80786C>G (p.Ser26929Cys) c.106829C>G (p.Ser35610Cys) c.102227C>G (p.Ser34076Cys) c.102224C>G (p.Ser34075Cys) c.99266C>G (p.Ser33089Cys) c.80882C>G (p.Ser26961Cys) c.102377C>G (p.Ser34126Cys) c.102374C>G (p.Ser34125Cys) c.101807C>G (p.Ser33936Cys) c.99149C>G (p.Ser33050Cys) c.99068C>G (p.Ser33023Cys) c.80831C>G (p.Ser26944Cys) c.70685C>G (p.Ser23562Cys) | |
2 | g.178527052G>T | CA349398226 | TTN,TTN-AS1 | c.100232C>A (p.Ser33411Tyr) c.81317C>A (p.Ser27106Tyr) c.81116C>A (p.Ser27039Tyr) c.80741C>A (p.Ser26914Tyr) c.107936C>A (p.Ser35979Tyr) c.103013C>A (p.Ser34338Tyr) n.446+3416G>T n.219+3416G>T c.107033C>A (p.Ser35678Tyr) c.80927C>A (p.Ser26976Tyr) c.80786C>A (p.Ser26929Tyr) c.106829C>A (p.Ser35610Tyr) c.102227C>A (p.Ser34076Tyr) c.102224C>A (p.Ser34075Tyr) c.99266C>A (p.Ser33089Tyr) c.80882C>A (p.Ser26961Tyr) c.102377C>A (p.Ser34126Tyr) c.102374C>A (p.Ser34125Tyr) c.101807C>A (p.Ser33936Tyr) c.99149C>A (p.Ser33050Tyr) c.99068C>A (p.Ser33023Tyr) c.80831C>A (p.Ser26944Tyr) c.70685C>A (p.Ser23562Tyr) | gnomAD v4 |
2 | g.178527053A>C | CA349398228 | TTN,TTN-AS1 | c.100231T>G (p.Ser33411Ala) c.81316T>G (p.Ser27106Ala) c.81115T>G (p.Ser27039Ala) c.80740T>G (p.Ser26914Ala) c.107935T>G (p.Ser35979Ala) c.103012T>G (p.Ser34338Ala) n.446+3417A>C n.219+3417A>C c.107032T>G (p.Ser35678Ala) c.80926T>G (p.Ser26976Ala) c.80785T>G (p.Ser26929Ala) c.106828T>G (p.Ser35610Ala) c.102226T>G (p.Ser34076Ala) c.102223T>G (p.Ser34075Ala) c.99265T>G (p.Ser33089Ala) c.80881T>G (p.Ser26961Ala) c.102376T>G (p.Ser34126Ala) c.102373T>G (p.Ser34125Ala) c.101806T>G (p.Ser33936Ala) c.99148T>G (p.Ser33050Ala) c.99067T>G (p.Ser33023Ala) c.80830T>G (p.Ser26944Ala) c.70684T>G (p.Ser23562Ala) | |
2 | g.178527053A>G | CA349398229 | TTN,TTN-AS1 | c.100231T>C (p.Ser33411Pro) c.81316T>C (p.Ser27106Pro) c.81115T>C (p.Ser27039Pro) c.80740T>C (p.Ser26914Pro) c.107935T>C (p.Ser35979Pro) c.103012T>C (p.Ser34338Pro) n.446+3417A>G n.219+3417A>G c.107032T>C (p.Ser35678Pro) c.80926T>C (p.Ser26976Pro) c.80785T>C (p.Ser26929Pro) c.106828T>C (p.Ser35610Pro) c.102226T>C (p.Ser34076Pro) c.102223T>C (p.Ser34075Pro) c.99265T>C (p.Ser33089Pro) c.80881T>C (p.Ser26961Pro) c.102376T>C (p.Ser34126Pro) c.102373T>C (p.Ser34125Pro) c.101806T>C (p.Ser33936Pro) c.99148T>C (p.Ser33050Pro) c.99067T>C (p.Ser33023Pro) c.80830T>C (p.Ser26944Pro) c.70684T>C (p.Ser23562Pro) | gnomAD v4 |
2 | g.178527053A>T | CA349398230 | TTN,TTN-AS1 | c.100231T>A (p.Ser33411Thr) c.81316T>A (p.Ser27106Thr) c.81115T>A (p.Ser27039Thr) c.80740T>A (p.Ser26914Thr) c.107935T>A (p.Ser35979Thr) c.103012T>A (p.Ser34338Thr) n.446+3417A>T n.219+3417A>T c.107032T>A (p.Ser35678Thr) c.80926T>A (p.Ser26976Thr) c.80785T>A (p.Ser26929Thr) c.106828T>A (p.Ser35610Thr) c.102226T>A (p.Ser34076Thr) c.102223T>A (p.Ser34075Thr) c.99265T>A (p.Ser33089Thr) c.80881T>A (p.Ser26961Thr) c.102376T>A (p.Ser34126Thr) c.102373T>A (p.Ser34125Thr) c.101806T>A (p.Ser33936Thr) c.99148T>A (p.Ser33050Thr) c.99067T>A (p.Ser33023Thr) c.80830T>A (p.Ser26944Thr) c.70684T>A (p.Ser23562Thr) | |
2 | g.178527054T>A | CA430091486 | TTN,TTN-AS1 | c.100230A>T (p.Gly33410=) c.81315A>T (p.Gly27105=) c.81114A>T (p.Gly27038=) c.80739A>T (p.Gly26913=) c.107934A>T (p.Gly35978=) c.103011A>T (p.Gly34337=) n.446+3418T>A n.219+3418T>A c.107031A>T (p.Gly35677=) c.80925A>T (p.Gly26975=) c.80784A>T (p.Gly26928=) c.106827A>T (p.Gly35609=) c.102225A>T (p.Gly34075=) c.102222A>T (p.Gly34074=) c.99264A>T (p.Gly33088=) c.80880A>T (p.Gly26960=) c.102375A>T (p.Gly34125=) c.102372A>T (p.Gly34124=) c.101805A>T (p.Gly33935=) c.99147A>T (p.Gly33049=) c.99066A>T (p.Gly33022=) c.80829A>T (p.Gly26943=) c.70683A>T (p.Gly23561=) | gnomAD v4 |
2 | g.178527054T>C | CA430091487 | TTN,TTN-AS1 | c.100230A>G (p.Gly33410=) c.81315A>G (p.Gly27105=) c.81114A>G (p.Gly27038=) c.80739A>G (p.Gly26913=) c.107934A>G (p.Gly35978=) c.103011A>G (p.Gly34337=) n.446+3418T>C n.219+3418T>C c.107031A>G (p.Gly35677=) c.80925A>G (p.Gly26975=) c.80784A>G (p.Gly26928=) c.106827A>G (p.Gly35609=) c.102225A>G (p.Gly34075=) c.102222A>G (p.Gly34074=) c.99264A>G (p.Gly33088=) c.80880A>G (p.Gly26960=) c.102375A>G (p.Gly34125=) c.102372A>G (p.Gly34124=) c.101805A>G (p.Gly33935=) c.99147A>G (p.Gly33049=) c.99066A>G (p.Gly33022=) c.80829A>G (p.Gly26943=) c.70683A>G (p.Gly23561=) | |
2 | g.178527054T>G | CA430091489 | TTN,TTN-AS1 | c.100230A>C (p.Gly33410=) c.81315A>C (p.Gly27105=) c.81114A>C (p.Gly27038=) c.80739A>C (p.Gly26913=) c.107934A>C (p.Gly35978=) c.103011A>C (p.Gly34337=) n.446+3418T>G n.219+3418T>G c.107031A>C (p.Gly35677=) c.80925A>C (p.Gly26975=) c.80784A>C (p.Gly26928=) c.106827A>C (p.Gly35609=) c.102225A>C (p.Gly34075=) c.102222A>C (p.Gly34074=) c.99264A>C (p.Gly33088=) c.80880A>C (p.Gly26960=) c.102375A>C (p.Gly34125=) c.102372A>C (p.Gly34124=) c.101805A>C (p.Gly33935=) c.99147A>C (p.Gly33049=) c.99066A>C (p.Gly33022=) c.80829A>C (p.Gly26943=) c.70683A>C (p.Gly23561=) | |
2 | g.178527055C>A | CA349398233 | TTN,TTN-AS1 | c.100229G>T (p.Gly33410Val) c.81314G>T (p.Gly27105Val) c.81113G>T (p.Gly27038Val) c.80738G>T (p.Gly26913Val) c.107933G>T (p.Gly35978Val) c.103010G>T (p.Gly34337Val) n.446+3419C>A n.219+3419C>A c.107030G>T (p.Gly35677Val) c.80924G>T (p.Gly26975Val) c.80783G>T (p.Gly26928Val) c.106826G>T (p.Gly35609Val) c.102224G>T (p.Gly34075Val) c.102221G>T (p.Gly34074Val) c.99263G>T (p.Gly33088Val) c.80879G>T (p.Gly26960Val) c.102374G>T (p.Gly34125Val) c.102371G>T (p.Gly34124Val) c.101804G>T (p.Gly33935Val) c.99146G>T (p.Gly33049Val) c.99065G>T (p.Gly33022Val) c.80828G>T (p.Gly26943Val) c.70682G>T (p.Gly23561Val) | gnomAD v4 |
2 | g.178527055C>G | CA349398231 | TTN,TTN-AS1 | c.100229G>C (p.Gly33410Ala) c.81314G>C (p.Gly27105Ala) c.81113G>C (p.Gly27038Ala) c.80738G>C (p.Gly26913Ala) c.107933G>C (p.Gly35978Ala) c.103010G>C (p.Gly34337Ala) n.446+3419C>G n.219+3419C>G c.107030G>C (p.Gly35677Ala) c.80924G>C (p.Gly26975Ala) c.80783G>C (p.Gly26928Ala) c.106826G>C (p.Gly35609Ala) c.102224G>C (p.Gly34075Ala) c.102221G>C (p.Gly34074Ala) c.99263G>C (p.Gly33088Ala) c.80879G>C (p.Gly26960Ala) c.102374G>C (p.Gly34125Ala) c.102371G>C (p.Gly34124Ala) c.101804G>C (p.Gly33935Ala) c.99146G>C (p.Gly33049Ala) c.99065G>C (p.Gly33022Ala) c.80828G>C (p.Gly26943Ala) c.70682G>C (p.Gly23561Ala) | |
2 | g.178527055C>T | CA349398232 | TTN,TTN-AS1 | c.100229G>A (p.Gly33410Glu) c.81314G>A (p.Gly27105Glu) c.81113G>A (p.Gly27038Glu) c.80738G>A (p.Gly26913Glu) c.107933G>A (p.Gly35978Glu) c.103010G>A (p.Gly34337Glu) n.446+3419C>T n.219+3419C>T c.107030G>A (p.Gly35677Glu) c.80924G>A (p.Gly26975Glu) c.80783G>A (p.Gly26928Glu) c.106826G>A (p.Gly35609Glu) c.102224G>A (p.Gly34075Glu) c.102221G>A (p.Gly34074Glu) c.99263G>A (p.Gly33088Glu) c.80879G>A (p.Gly26960Glu) c.102374G>A (p.Gly34125Glu) c.102371G>A (p.Gly34124Glu) c.101804G>A (p.Gly33935Glu) c.99146G>A (p.Gly33049Glu) c.99065G>A (p.Gly33022Glu) c.80828G>A (p.Gly26943Glu) c.70682G>A (p.Gly23561Glu) | ClinVar dbSNP |
2 | g.178527056C>A | CA349398234 | TTN,TTN-AS1 | c.100228G>T (p.Gly33410Ter) c.81313G>T (p.Gly27105Ter) c.81112G>T (p.Gly27038Ter) c.80737G>T (p.Gly26913Ter) c.107932G>T (p.Gly35978Ter) c.103009G>T (p.Gly34337Ter) n.446+3420C>A n.219+3420C>A c.107029G>T (p.Gly35677Ter) c.80923G>T (p.Gly26975Ter) c.80782G>T (p.Gly26928Ter) c.106825G>T (p.Gly35609Ter) c.102223G>T (p.Gly34075Ter) c.102220G>T (p.Gly34074Ter) c.99262G>T (p.Gly33088Ter) c.80878G>T (p.Gly26960Ter) c.102373G>T (p.Gly34125Ter) c.102370G>T (p.Gly34124Ter) c.101803G>T (p.Gly33935Ter) c.99145G>T (p.Gly33049Ter) c.99064G>T (p.Gly33022Ter) c.80827G>T (p.Gly26943Ter) c.70681G>T (p.Gly23561Ter) | dbSNP |
2 | g.178527056C= | CA1310514281 | TTN,TTN-AS1 | c.100228G= (p.Gly33410=) c.81313G= (p.Gly27105=) c.81112G= (p.Gly27038=) c.80737G= (p.Gly26913=) c.107932G= (p.Gly35978=) c.103009G= (p.Gly34337=) n.446+3420C= n.219+3420C= c.107029G= (p.Gly35677=) c.80923G= (p.Gly26975=) c.80782G= (p.Gly26928=) c.106825G= (p.Gly35609=) c.102223G= (p.Gly34075=) c.102220G= (p.Gly34074=) c.99262G= (p.Gly33088=) c.80878G= (p.Gly26960=) c.102373G= (p.Gly34125=) c.102370G= (p.Gly34124=) c.101803G= (p.Gly33935=) c.99145G= (p.Gly33049=) c.99064G= (p.Gly33022=) c.80827G= (p.Gly26943=) c.70681G= (p.Gly23561=) | |
2 | g.178527056C>G | CA349398235 | TTN,TTN-AS1 | c.100228G>C (p.Gly33410Arg) c.81313G>C (p.Gly27105Arg) c.81112G>C (p.Gly27038Arg) c.80737G>C (p.Gly26913Arg) c.107932G>C (p.Gly35978Arg) c.103009G>C (p.Gly34337Arg) n.446+3420C>G n.219+3420C>G c.107029G>C (p.Gly35677Arg) c.80923G>C (p.Gly26975Arg) c.80782G>C (p.Gly26928Arg) c.106825G>C (p.Gly35609Arg) c.102223G>C (p.Gly34075Arg) c.102220G>C (p.Gly34074Arg) c.99262G>C (p.Gly33088Arg) c.80878G>C (p.Gly26960Arg) c.102373G>C (p.Gly34125Arg) c.102370G>C (p.Gly34124Arg) c.101803G>C (p.Gly33935Arg) c.99145G>C (p.Gly33049Arg) c.99064G>C (p.Gly33022Arg) c.80827G>C (p.Gly26943Arg) c.70681G>C (p.Gly23561Arg) | |
2 | g.178527056C>T | CA349398236 | TTN,TTN-AS1 | c.100228G>A (p.Gly33410Arg) c.81313G>A (p.Gly27105Arg) c.81112G>A (p.Gly27038Arg) c.80737G>A (p.Gly26913Arg) c.107932G>A (p.Gly35978Arg) c.103009G>A (p.Gly34337Arg) n.446+3420C>T n.219+3420C>T c.107029G>A (p.Gly35677Arg) c.80923G>A (p.Gly26975Arg) c.80782G>A (p.Gly26928Arg) c.106825G>A (p.Gly35609Arg) c.102223G>A (p.Gly34075Arg) c.102220G>A (p.Gly34074Arg) c.99262G>A (p.Gly33088Arg) c.80878G>A (p.Gly26960Arg) c.102373G>A (p.Gly34125Arg) c.102370G>A (p.Gly34124Arg) c.101803G>A (p.Gly33935Arg) c.99145G>A (p.Gly33049Arg) c.99064G>A (p.Gly33022Arg) c.80827G>A (p.Gly26943Arg) c.70681G>A (p.Gly23561Arg) | |
2 | g.178527057A>C | CA349398243 | TTN,TTN-AS1 | c.100227T>G (p.Phe33409Leu) c.81312T>G (p.Phe27104Leu) c.81111T>G (p.Phe27037Leu) c.80736T>G (p.Phe26912Leu) c.107931T>G (p.Phe35977Leu) c.103008T>G (p.Phe34336Leu) n.446+3421A>C n.219+3421A>C c.107028T>G (p.Phe35676Leu) c.80922T>G (p.Phe26974Leu) c.80781T>G (p.Phe26927Leu) c.106824T>G (p.Phe35608Leu) c.102222T>G (p.Phe34074Leu) c.102219T>G (p.Phe34073Leu) c.99261T>G (p.Phe33087Leu) c.80877T>G (p.Phe26959Leu) c.102372T>G (p.Phe34124Leu) c.102369T>G (p.Phe34123Leu) c.101802T>G (p.Phe33934Leu) c.99144T>G (p.Phe33048Leu) c.99063T>G (p.Phe33021Leu) c.80826T>G (p.Phe26942Leu) c.70680T>G (p.Phe23560Leu) | |
2 | g.178527057A>G | CA430091492 | TTN,TTN-AS1 | c.100227T>C (p.Phe33409=) c.81312T>C (p.Phe27104=) c.81111T>C (p.Phe27037=) c.80736T>C (p.Phe26912=) c.107931T>C (p.Phe35977=) c.103008T>C (p.Phe34336=) n.446+3421A>G n.219+3421A>G c.107028T>C (p.Phe35676=) c.80922T>C (p.Phe26974=) c.80781T>C (p.Phe26927=) c.106824T>C (p.Phe35608=) c.102222T>C (p.Phe34074=) c.102219T>C (p.Phe34073=) c.99261T>C (p.Phe33087=) c.80877T>C (p.Phe26959=) c.102372T>C (p.Phe34124=) c.102369T>C (p.Phe34123=) c.101802T>C (p.Phe33934=) c.99144T>C (p.Phe33048=) c.99063T>C (p.Phe33021=) c.80826T>C (p.Phe26942=) c.70680T>C (p.Phe23560=) | |
2 | g.178527057A>T | CA349398245 | TTN,TTN-AS1 | c.100227T>A (p.Phe33409Leu) c.81312T>A (p.Phe27104Leu) c.81111T>A (p.Phe27037Leu) c.80736T>A (p.Phe26912Leu) c.107931T>A (p.Phe35977Leu) c.103008T>A (p.Phe34336Leu) n.446+3421A>T n.219+3421A>T c.107028T>A (p.Phe35676Leu) c.80922T>A (p.Phe26974Leu) c.80781T>A (p.Phe26927Leu) c.106824T>A (p.Phe35608Leu) c.102222T>A (p.Phe34074Leu) c.102219T>A (p.Phe34073Leu) c.99261T>A (p.Phe33087Leu) c.80877T>A (p.Phe26959Leu) c.102372T>A (p.Phe34124Leu) c.102369T>A (p.Phe34123Leu) c.101802T>A (p.Phe33934Leu) c.99144T>A (p.Phe33048Leu) c.99063T>A (p.Phe33021Leu) c.80826T>A (p.Phe26942Leu) c.70680T>A (p.Phe23560Leu) | |
2 | g.178527058A>C | CA349398250 | TTN,TTN-AS1 | c.100226T>G (p.Phe33409Cys) c.81311T>G (p.Phe27104Cys) c.81110T>G (p.Phe27037Cys) c.80735T>G (p.Phe26912Cys) c.107930T>G (p.Phe35977Cys) c.103007T>G (p.Phe34336Cys) n.446+3422A>C n.219+3422A>C c.107027T>G (p.Phe35676Cys) c.80921T>G (p.Phe26974Cys) c.80780T>G (p.Phe26927Cys) c.106823T>G (p.Phe35608Cys) c.102221T>G (p.Phe34074Cys) c.102218T>G (p.Phe34073Cys) c.99260T>G (p.Phe33087Cys) c.80876T>G (p.Phe26959Cys) c.102371T>G (p.Phe34124Cys) c.102368T>G (p.Phe34123Cys) c.101801T>G (p.Phe33934Cys) c.99143T>G (p.Phe33048Cys) c.99062T>G (p.Phe33021Cys) c.80825T>G (p.Phe26942Cys) c.70679T>G (p.Phe23560Cys) | |
2 | g.178527058A>G | CA349398252 | TTN,TTN-AS1 | c.100226T>C (p.Phe33409Ser) c.81311T>C (p.Phe27104Ser) c.81110T>C (p.Phe27037Ser) c.80735T>C (p.Phe26912Ser) c.107930T>C (p.Phe35977Ser) c.103007T>C (p.Phe34336Ser) n.446+3422A>G n.219+3422A>G c.107027T>C (p.Phe35676Ser) c.80921T>C (p.Phe26974Ser) c.80780T>C (p.Phe26927Ser) c.106823T>C (p.Phe35608Ser) c.102221T>C (p.Phe34074Ser) c.102218T>C (p.Phe34073Ser) c.99260T>C (p.Phe33087Ser) c.80876T>C (p.Phe26959Ser) c.102371T>C (p.Phe34124Ser) c.102368T>C (p.Phe34123Ser) c.101801T>C (p.Phe33934Ser) c.99143T>C (p.Phe33048Ser) c.99062T>C (p.Phe33021Ser) c.80825T>C (p.Phe26942Ser) c.70679T>C (p.Phe23560Ser) | |
2 | g.178527058A>T | CA349398256 | TTN,TTN-AS1 | c.100226T>A (p.Phe33409Tyr) c.81311T>A (p.Phe27104Tyr) c.81110T>A (p.Phe27037Tyr) c.80735T>A (p.Phe26912Tyr) c.107930T>A (p.Phe35977Tyr) c.103007T>A (p.Phe34336Tyr) n.446+3422A>T n.219+3422A>T c.107027T>A (p.Phe35676Tyr) c.80921T>A (p.Phe26974Tyr) c.80780T>A (p.Phe26927Tyr) c.106823T>A (p.Phe35608Tyr) c.102221T>A (p.Phe34074Tyr) c.102218T>A (p.Phe34073Tyr) c.99260T>A (p.Phe33087Tyr) c.80876T>A (p.Phe26959Tyr) c.102371T>A (p.Phe34124Tyr) c.102368T>A (p.Phe34123Tyr) c.101801T>A (p.Phe33934Tyr) c.99143T>A (p.Phe33048Tyr) c.99062T>A (p.Phe33021Tyr) c.80825T>A (p.Phe26942Tyr) c.70679T>A (p.Phe23560Tyr) | |
2 | g.178527059A>C | CA349398260 | TTN,TTN-AS1 | c.100225T>G (p.Phe33409Val) c.81310T>G (p.Phe27104Val) c.81109T>G (p.Phe27037Val) c.80734T>G (p.Phe26912Val) c.107929T>G (p.Phe35977Val) c.103006T>G (p.Phe34336Val) n.446+3423A>C n.219+3423A>C c.107026T>G (p.Phe35676Val) c.80920T>G (p.Phe26974Val) c.80779T>G (p.Phe26927Val) c.106822T>G (p.Phe35608Val) c.102220T>G (p.Phe34074Val) c.102217T>G (p.Phe34073Val) c.99259T>G (p.Phe33087Val) c.80875T>G (p.Phe26959Val) c.102370T>G (p.Phe34124Val) c.102367T>G (p.Phe34123Val) c.101800T>G (p.Phe33934Val) c.99142T>G (p.Phe33048Val) c.99061T>G (p.Phe33021Val) c.80824T>G (p.Phe26942Val) c.70678T>G (p.Phe23560Val) | |
2 | g.178527059A>G | CA349398261 | TTN,TTN-AS1 | c.100225T>C (p.Phe33409Leu) c.81310T>C (p.Phe27104Leu) c.81109T>C (p.Phe27037Leu) c.80734T>C (p.Phe26912Leu) c.107929T>C (p.Phe35977Leu) c.103006T>C (p.Phe34336Leu) n.446+3423A>G n.219+3423A>G c.107026T>C (p.Phe35676Leu) c.80920T>C (p.Phe26974Leu) c.80779T>C (p.Phe26927Leu) c.106822T>C (p.Phe35608Leu) c.102220T>C (p.Phe34074Leu) c.102217T>C (p.Phe34073Leu) c.99259T>C (p.Phe33087Leu) c.80875T>C (p.Phe26959Leu) c.102370T>C (p.Phe34124Leu) c.102367T>C (p.Phe34123Leu) c.101800T>C (p.Phe33934Leu) c.99142T>C (p.Phe33048Leu) c.99061T>C (p.Phe33021Leu) c.80824T>C (p.Phe26942Leu) c.70678T>C (p.Phe23560Leu) | |
2 | g.178527059A>T | CA349398263 | TTN,TTN-AS1 | c.100225T>A (p.Phe33409Ile) c.81310T>A (p.Phe27104Ile) c.81109T>A (p.Phe27037Ile) c.80734T>A (p.Phe26912Ile) c.107929T>A (p.Phe35977Ile) c.103006T>A (p.Phe34336Ile) n.446+3423A>T n.219+3423A>T c.107026T>A (p.Phe35676Ile) c.80920T>A (p.Phe26974Ile) c.80779T>A (p.Phe26927Ile) c.106822T>A (p.Phe35608Ile) c.102220T>A (p.Phe34074Ile) c.102217T>A (p.Phe34073Ile) c.99259T>A (p.Phe33087Ile) c.80875T>A (p.Phe26959Ile) c.102370T>A (p.Phe34124Ile) c.102367T>A (p.Phe34123Ile) c.101800T>A (p.Phe33934Ile) c.99142T>A (p.Phe33048Ile) c.99061T>A (p.Phe33021Ile) c.80824T>A (p.Phe26942Ile) c.70678T>A (p.Phe23560Ile) | |
2 | g.178527060T>A | CA349398266 | TTN,TTN-AS1 | c.100224A>T (p.Glu33408Asp) c.81309A>T (p.Glu27103Asp) c.81108A>T (p.Glu27036Asp) c.80733A>T (p.Glu26911Asp) c.107928A>T (p.Glu35976Asp) c.103005A>T (p.Glu34335Asp) n.446+3424T>A n.219+3424T>A c.107025A>T (p.Glu35675Asp) c.80919A>T (p.Glu26973Asp) c.80778A>T (p.Glu26926Asp) c.106821A>T (p.Glu35607Asp) c.102219A>T (p.Glu34073Asp) c.102216A>T (p.Glu34072Asp) c.99258A>T (p.Glu33086Asp) c.80874A>T (p.Glu26958Asp) c.102369A>T (p.Glu34123Asp) c.102366A>T (p.Glu34122Asp) c.101799A>T (p.Glu33933Asp) c.99141A>T (p.Glu33047Asp) c.99060A>T (p.Glu33020Asp) c.80823A>T (p.Glu26941Asp) c.70677A>T (p.Glu23559Asp) | |
2 | g.178527060T>C | CA430091498 | TTN,TTN-AS1 | c.100224A>G (p.Glu33408=) c.81309A>G (p.Glu27103=) c.81108A>G (p.Glu27036=) c.80733A>G (p.Glu26911=) c.107928A>G (p.Glu35976=) c.103005A>G (p.Glu34335=) n.446+3424T>C n.219+3424T>C c.107025A>G (p.Glu35675=) c.80919A>G (p.Glu26973=) c.80778A>G (p.Glu26926=) c.106821A>G (p.Glu35607=) c.102219A>G (p.Glu34073=) c.102216A>G (p.Glu34072=) c.99258A>G (p.Glu33086=) c.80874A>G (p.Glu26958=) c.102369A>G (p.Glu34123=) c.102366A>G (p.Glu34122=) c.101799A>G (p.Glu33933=) c.99141A>G (p.Glu33047=) c.99060A>G (p.Glu33020=) c.80823A>G (p.Glu26941=) c.70677A>G (p.Glu23559=) | |
2 | g.178527060T>G | CA349398265 | TTN,TTN-AS1 | c.100224A>C (p.Glu33408Asp) c.81309A>C (p.Glu27103Asp) c.81108A>C (p.Glu27036Asp) c.80733A>C (p.Glu26911Asp) c.107928A>C (p.Glu35976Asp) c.103005A>C (p.Glu34335Asp) n.446+3424T>G n.219+3424T>G c.107025A>C (p.Glu35675Asp) c.80919A>C (p.Glu26973Asp) c.80778A>C (p.Glu26926Asp) c.106821A>C (p.Glu35607Asp) c.102219A>C (p.Glu34073Asp) c.102216A>C (p.Glu34072Asp) c.99258A>C (p.Glu33086Asp) c.80874A>C (p.Glu26958Asp) c.102369A>C (p.Glu34123Asp) c.102366A>C (p.Glu34122Asp) c.101799A>C (p.Glu33933Asp) c.99141A>C (p.Glu33047Asp) c.99060A>C (p.Glu33020Asp) c.80823A>C (p.Glu26941Asp) c.70677A>C (p.Glu23559Asp) | |
2 | g.178527061T>A | CA349398270 | TTN,TTN-AS1 | c.100223A>T (p.Glu33408Val) c.81308A>T (p.Glu27103Val) c.81107A>T (p.Glu27036Val) c.80732A>T (p.Glu26911Val) c.107927A>T (p.Glu35976Val) c.103004A>T (p.Glu34335Val) n.446+3425T>A n.219+3425T>A c.107024A>T (p.Glu35675Val) c.80918A>T (p.Glu26973Val) c.80777A>T (p.Glu26926Val) c.106820A>T (p.Glu35607Val) c.102218A>T (p.Glu34073Val) c.102215A>T (p.Glu34072Val) c.99257A>T (p.Glu33086Val) c.80873A>T (p.Glu26958Val) c.102368A>T (p.Glu34123Val) c.102365A>T (p.Glu34122Val) c.101798A>T (p.Glu33933Val) c.99140A>T (p.Glu33047Val) c.99059A>T (p.Glu33020Val) c.80822A>T (p.Glu26941Val) c.70676A>T (p.Glu23559Val) | |
2 | g.178527061T>C | CA349398272 | TTN,TTN-AS1 | c.100223A>G (p.Glu33408Gly) c.81308A>G (p.Glu27103Gly) c.81107A>G (p.Glu27036Gly) c.80732A>G (p.Glu26911Gly) c.107927A>G (p.Glu35976Gly) c.103004A>G (p.Glu34335Gly) n.446+3425T>C n.219+3425T>C c.107024A>G (p.Glu35675Gly) c.80918A>G (p.Glu26973Gly) c.80777A>G (p.Glu26926Gly) c.106820A>G (p.Glu35607Gly) c.102218A>G (p.Glu34073Gly) c.102215A>G (p.Glu34072Gly) c.99257A>G (p.Glu33086Gly) c.80873A>G (p.Glu26958Gly) c.102368A>G (p.Glu34123Gly) c.102365A>G (p.Glu34122Gly) c.101798A>G (p.Glu33933Gly) c.99140A>G (p.Glu33047Gly) c.99059A>G (p.Glu33020Gly) c.80822A>G (p.Glu26941Gly) c.70676A>G (p.Glu23559Gly) | |
2 | g.178527061T>G | CA349398275 | TTN,TTN-AS1 | c.100223A>C (p.Glu33408Ala) c.81308A>C (p.Glu27103Ala) c.81107A>C (p.Glu27036Ala) c.80732A>C (p.Glu26911Ala) c.107927A>C (p.Glu35976Ala) c.103004A>C (p.Glu34335Ala) n.446+3425T>G n.219+3425T>G c.107024A>C (p.Glu35675Ala) c.80918A>C (p.Glu26973Ala) c.80777A>C (p.Glu26926Ala) c.106820A>C (p.Glu35607Ala) c.102218A>C (p.Glu34073Ala) c.102215A>C (p.Glu34072Ala) c.99257A>C (p.Glu33086Ala) c.80873A>C (p.Glu26958Ala) c.102368A>C (p.Glu34123Ala) c.102365A>C (p.Glu34122Ala) c.101798A>C (p.Glu33933Ala) c.99140A>C (p.Glu33047Ala) c.99059A>C (p.Glu33020Ala) c.80822A>C (p.Glu26941Ala) c.70676A>C (p.Glu23559Ala) | |
2 | g.178527062C>A | CA349398276 | TTN,TTN-AS1 | c.100222G>T (p.Glu33408Ter) c.81307G>T (p.Glu27103Ter) c.81106G>T (p.Glu27036Ter) c.80731G>T (p.Glu26911Ter) c.107926G>T (p.Glu35976Ter) c.103003G>T (p.Glu34335Ter) n.446+3426C>A n.219+3426C>A c.107023G>T (p.Glu35675Ter) c.80917G>T (p.Glu26973Ter) c.80776G>T (p.Glu26926Ter) c.106819G>T (p.Glu35607Ter) c.102217G>T (p.Glu34073Ter) c.102214G>T (p.Glu34072Ter) c.99256G>T (p.Glu33086Ter) c.80872G>T (p.Glu26958Ter) c.102367G>T (p.Glu34123Ter) c.102364G>T (p.Glu34122Ter) c.101797G>T (p.Glu33933Ter) c.99139G>T (p.Glu33047Ter) c.99058G>T (p.Glu33020Ter) c.80821G>T (p.Glu26941Ter) c.70675G>T (p.Glu23559Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527062C= | CA1310514282 | TTN,TTN-AS1 | c.100222G= (p.Glu33408=) c.81307G= (p.Glu27103=) c.81106G= (p.Glu27036=) c.80731G= (p.Glu26911=) c.107926G= (p.Glu35976=) c.103003G= (p.Glu34335=) n.446+3426C= n.219+3426C= c.107023G= (p.Glu35675=) c.80917G= (p.Glu26973=) c.80776G= (p.Glu26926=) c.106819G= (p.Glu35607=) c.102217G= (p.Glu34073=) c.102214G= (p.Glu34072=) c.99256G= (p.Glu33086=) c.80872G= (p.Glu26958=) c.102367G= (p.Glu34123=) c.102364G= (p.Glu34122=) c.101797G= (p.Glu33933=) c.99139G= (p.Glu33047=) c.99058G= (p.Glu33020=) c.80821G= (p.Glu26941=) c.70675G= (p.Glu23559=) | |
2 | g.178527062C>G | CA349398278 | TTN,TTN-AS1 | c.100222G>C (p.Glu33408Gln) c.81307G>C (p.Glu27103Gln) c.81106G>C (p.Glu27036Gln) c.80731G>C (p.Glu26911Gln) c.107926G>C (p.Glu35976Gln) c.103003G>C (p.Glu34335Gln) n.446+3426C>G n.219+3426C>G c.107023G>C (p.Glu35675Gln) c.80917G>C (p.Glu26973Gln) c.80776G>C (p.Glu26926Gln) c.106819G>C (p.Glu35607Gln) c.102217G>C (p.Glu34073Gln) c.102214G>C (p.Glu34072Gln) c.99256G>C (p.Glu33086Gln) c.80872G>C (p.Glu26958Gln) c.102367G>C (p.Glu34123Gln) c.102364G>C (p.Glu34122Gln) c.101797G>C (p.Glu33933Gln) c.99139G>C (p.Glu33047Gln) c.99058G>C (p.Glu33020Gln) c.80821G>C (p.Glu26941Gln) c.70675G>C (p.Glu23559Gln) | |
2 | g.178527062C>T | CA349398280 | TTN,TTN-AS1 | c.100222G>A (p.Glu33408Lys) c.81307G>A (p.Glu27103Lys) c.81106G>A (p.Glu27036Lys) c.80731G>A (p.Glu26911Lys) c.107926G>A (p.Glu35976Lys) c.103003G>A (p.Glu34335Lys) n.446+3426C>T n.219+3426C>T c.107023G>A (p.Glu35675Lys) c.80917G>A (p.Glu26973Lys) c.80776G>A (p.Glu26926Lys) c.106819G>A (p.Glu35607Lys) c.102217G>A (p.Glu34073Lys) c.102214G>A (p.Glu34072Lys) c.99256G>A (p.Glu33086Lys) c.80872G>A (p.Glu26958Lys) c.102367G>A (p.Glu34123Lys) c.102364G>A (p.Glu34122Lys) c.101797G>A (p.Glu33933Lys) c.99139G>A (p.Glu33047Lys) c.99058G>A (p.Glu33020Lys) c.80821G>A (p.Glu26941Lys) c.70675G>A (p.Glu23559Lys) | |
2 | g.178527063A>C | CA349398284 | TTN,TTN-AS1 | c.100221T>G (p.Asn33407Lys) c.81306T>G (p.Asn27102Lys) c.81105T>G (p.Asn27035Lys) c.80730T>G (p.Asn26910Lys) c.107925T>G (p.Asn35975Lys) c.103002T>G (p.Asn34334Lys) n.446+3427A>C n.219+3427A>C c.107022T>G (p.Asn35674Lys) c.80916T>G (p.Asn26972Lys) c.80775T>G (p.Asn26925Lys) c.106818T>G (p.Asn35606Lys) c.102216T>G (p.Asn34072Lys) c.102213T>G (p.Asn34071Lys) c.99255T>G (p.Asn33085Lys) c.80871T>G (p.Asn26957Lys) c.102366T>G (p.Asn34122Lys) c.102363T>G (p.Asn34121Lys) c.101796T>G (p.Asn33932Lys) c.99138T>G (p.Asn33046Lys) c.99057T>G (p.Asn33019Lys) c.80820T>G (p.Asn26940Lys) c.70674T>G (p.Asn23558Lys) | |
2 | g.178527063A>G | CA430091506 | TTN,TTN-AS1 | c.100221T>C (p.Asn33407=) c.81306T>C (p.Asn27102=) c.81105T>C (p.Asn27035=) c.80730T>C (p.Asn26910=) c.107925T>C (p.Asn35975=) c.103002T>C (p.Asn34334=) n.446+3427A>G n.219+3427A>G c.107022T>C (p.Asn35674=) c.80916T>C (p.Asn26972=) c.80775T>C (p.Asn26925=) c.106818T>C (p.Asn35606=) c.102216T>C (p.Asn34072=) c.102213T>C (p.Asn34071=) c.99255T>C (p.Asn33085=) c.80871T>C (p.Asn26957=) c.102366T>C (p.Asn34122=) c.102363T>C (p.Asn34121=) c.101796T>C (p.Asn33932=) c.99138T>C (p.Asn33046=) c.99057T>C (p.Asn33019=) c.80820T>C (p.Asn26940=) c.70674T>C (p.Asn23558=) | ClinVar dbSNP |
2 | g.178527063A>T | CA349398282 | TTN,TTN-AS1 | c.100221T>A (p.Asn33407Lys) c.81306T>A (p.Asn27102Lys) c.81105T>A (p.Asn27035Lys) c.80730T>A (p.Asn26910Lys) c.107925T>A (p.Asn35975Lys) c.103002T>A (p.Asn34334Lys) n.446+3427A>T n.219+3427A>T c.107022T>A (p.Asn35674Lys) c.80916T>A (p.Asn26972Lys) c.80775T>A (p.Asn26925Lys) c.106818T>A (p.Asn35606Lys) c.102216T>A (p.Asn34072Lys) c.102213T>A (p.Asn34071Lys) c.99255T>A (p.Asn33085Lys) c.80871T>A (p.Asn26957Lys) c.102366T>A (p.Asn34122Lys) c.102363T>A (p.Asn34121Lys) c.101796T>A (p.Asn33932Lys) c.99138T>A (p.Asn33046Lys) c.99057T>A (p.Asn33019Lys) c.80820T>A (p.Asn26940Lys) c.70674T>A (p.Asn23558Lys) | |
2 | g.178527064T>A | CA349398287 | TTN,TTN-AS1 | c.100220A>T (p.Asn33407Ile) c.81305A>T (p.Asn27102Ile) c.81104A>T (p.Asn27035Ile) c.80729A>T (p.Asn26910Ile) c.107924A>T (p.Asn35975Ile) c.103001A>T (p.Asn34334Ile) n.446+3428T>A n.219+3428T>A c.107021A>T (p.Asn35674Ile) c.80915A>T (p.Asn26972Ile) c.80774A>T (p.Asn26925Ile) c.106817A>T (p.Asn35606Ile) c.102215A>T (p.Asn34072Ile) c.102212A>T (p.Asn34071Ile) c.99254A>T (p.Asn33085Ile) c.80870A>T (p.Asn26957Ile) c.102365A>T (p.Asn34122Ile) c.102362A>T (p.Asn34121Ile) c.101795A>T (p.Asn33932Ile) c.99137A>T (p.Asn33046Ile) c.99056A>T (p.Asn33019Ile) c.80819A>T (p.Asn26940Ile) c.70673A>T (p.Asn23558Ile) | |
2 | g.178527064T>C | CA349398289 | TTN,TTN-AS1 | c.100220A>G (p.Asn33407Ser) c.81305A>G (p.Asn27102Ser) c.81104A>G (p.Asn27035Ser) c.80729A>G (p.Asn26910Ser) c.107924A>G (p.Asn35975Ser) c.103001A>G (p.Asn34334Ser) n.446+3428T>C n.219+3428T>C c.107021A>G (p.Asn35674Ser) c.80915A>G (p.Asn26972Ser) c.80774A>G (p.Asn26925Ser) c.106817A>G (p.Asn35606Ser) c.102215A>G (p.Asn34072Ser) c.102212A>G (p.Asn34071Ser) c.99254A>G (p.Asn33085Ser) c.80870A>G (p.Asn26957Ser) c.102365A>G (p.Asn34122Ser) c.102362A>G (p.Asn34121Ser) c.101795A>G (p.Asn33932Ser) c.99137A>G (p.Asn33046Ser) c.99056A>G (p.Asn33019Ser) c.80819A>G (p.Asn26940Ser) c.70673A>G (p.Asn23558Ser) | |
2 | g.178527064T>G | CA349398292 | TTN,TTN-AS1 | c.100220A>C (p.Asn33407Thr) c.81305A>C (p.Asn27102Thr) c.81104A>C (p.Asn27035Thr) c.80729A>C (p.Asn26910Thr) c.107924A>C (p.Asn35975Thr) c.103001A>C (p.Asn34334Thr) n.446+3428T>G n.219+3428T>G c.107021A>C (p.Asn35674Thr) c.80915A>C (p.Asn26972Thr) c.80774A>C (p.Asn26925Thr) c.106817A>C (p.Asn35606Thr) c.102215A>C (p.Asn34072Thr) c.102212A>C (p.Asn34071Thr) c.99254A>C (p.Asn33085Thr) c.80870A>C (p.Asn26957Thr) c.102365A>C (p.Asn34122Thr) c.102362A>C (p.Asn34121Thr) c.101795A>C (p.Asn33932Thr) c.99137A>C (p.Asn33046Thr) c.99056A>C (p.Asn33019Thr) c.80819A>C (p.Asn26940Thr) c.70673A>C (p.Asn23558Thr) | |
2 | g.178527065T>A | CA349398294 | TTN,TTN-AS1 | c.100219A>T (p.Asn33407Tyr) c.81304A>T (p.Asn27102Tyr) c.81103A>T (p.Asn27035Tyr) c.80728A>T (p.Asn26910Tyr) c.107923A>T (p.Asn35975Tyr) c.103000A>T (p.Asn34334Tyr) n.446+3429T>A n.219+3429T>A c.107020A>T (p.Asn35674Tyr) c.80914A>T (p.Asn26972Tyr) c.80773A>T (p.Asn26925Tyr) c.106816A>T (p.Asn35606Tyr) c.102214A>T (p.Asn34072Tyr) c.102211A>T (p.Asn34071Tyr) c.99253A>T (p.Asn33085Tyr) c.80869A>T (p.Asn26957Tyr) c.102364A>T (p.Asn34122Tyr) c.102361A>T (p.Asn34121Tyr) c.101794A>T (p.Asn33932Tyr) c.99136A>T (p.Asn33046Tyr) c.99055A>T (p.Asn33019Tyr) c.80818A>T (p.Asn26940Tyr) c.70672A>T (p.Asn23558Tyr) | |
2 | g.178527065T>C | CA349398296 | TTN,TTN-AS1 | c.100219A>G (p.Asn33407Asp) c.81304A>G (p.Asn27102Asp) c.81103A>G (p.Asn27035Asp) c.80728A>G (p.Asn26910Asp) c.107923A>G (p.Asn35975Asp) c.103000A>G (p.Asn34334Asp) n.446+3429T>C n.219+3429T>C c.107020A>G (p.Asn35674Asp) c.80914A>G (p.Asn26972Asp) c.80773A>G (p.Asn26925Asp) c.106816A>G (p.Asn35606Asp) c.102214A>G (p.Asn34072Asp) c.102211A>G (p.Asn34071Asp) c.99253A>G (p.Asn33085Asp) c.80869A>G (p.Asn26957Asp) c.102364A>G (p.Asn34122Asp) c.102361A>G (p.Asn34121Asp) c.101794A>G (p.Asn33932Asp) c.99136A>G (p.Asn33046Asp) c.99055A>G (p.Asn33019Asp) c.80818A>G (p.Asn26940Asp) c.70672A>G (p.Asn23558Asp) | |
2 | g.178527065T>G | CA349398300 | TTN,TTN-AS1 | c.100219A>C (p.Asn33407His) c.81304A>C (p.Asn27102His) c.81103A>C (p.Asn27035His) c.80728A>C (p.Asn26910His) c.107923A>C (p.Asn35975His) c.103000A>C (p.Asn34334His) n.446+3429T>G n.219+3429T>G c.107020A>C (p.Asn35674His) c.80914A>C (p.Asn26972His) c.80773A>C (p.Asn26925His) c.106816A>C (p.Asn35606His) c.102214A>C (p.Asn34072His) c.102211A>C (p.Asn34071His) c.99253A>C (p.Asn33085His) c.80869A>C (p.Asn26957His) c.102364A>C (p.Asn34122His) c.102361A>C (p.Asn34121His) c.101794A>C (p.Asn33932His) c.99136A>C (p.Asn33046His) c.99055A>C (p.Asn33019His) c.80818A>C (p.Asn26940His) c.70672A>C (p.Asn23558His) | |
2 | g.178527066C>A | CA430091518 | TTN,TTN-AS1 | c.100218G>T (p.Gly33406=) c.81303G>T (p.Gly27101=) c.81102G>T (p.Gly27034=) c.80727G>T (p.Gly26909=) c.107922G>T (p.Gly35974=) c.102999G>T (p.Gly34333=) n.446+3430C>A n.219+3430C>A c.107019G>T (p.Gly35673=) c.80913G>T (p.Gly26971=) c.80772G>T (p.Gly26924=) c.106815G>T (p.Gly35605=) c.102213G>T (p.Gly34071=) c.102210G>T (p.Gly34070=) c.99252G>T (p.Gly33084=) c.80868G>T (p.Gly26956=) c.102363G>T (p.Gly34121=) c.102360G>T (p.Gly34120=) c.101793G>T (p.Gly33931=) c.99135G>T (p.Gly33045=) c.99054G>T (p.Gly33018=) c.80817G>T (p.Gly26939=) c.70671G>T (p.Gly23557=) | |
2 | g.178527066C>G | CA430091520 | TTN,TTN-AS1 | c.100218G>C (p.Gly33406=) c.81303G>C (p.Gly27101=) c.81102G>C (p.Gly27034=) c.80727G>C (p.Gly26909=) c.107922G>C (p.Gly35974=) c.102999G>C (p.Gly34333=) n.446+3430C>G n.219+3430C>G c.107019G>C (p.Gly35673=) c.80913G>C (p.Gly26971=) c.80772G>C (p.Gly26924=) c.106815G>C (p.Gly35605=) c.102213G>C (p.Gly34071=) c.102210G>C (p.Gly34070=) c.99252G>C (p.Gly33084=) c.80868G>C (p.Gly26956=) c.102363G>C (p.Gly34121=) c.102360G>C (p.Gly34120=) c.101793G>C (p.Gly33931=) c.99135G>C (p.Gly33045=) c.99054G>C (p.Gly33018=) c.80817G>C (p.Gly26939=) c.70671G>C (p.Gly23557=) | |
2 | g.178527066C>T | CA430091516 | TTN,TTN-AS1 | c.100218G>A (p.Gly33406=) c.81303G>A (p.Gly27101=) c.81102G>A (p.Gly27034=) c.80727G>A (p.Gly26909=) c.107922G>A (p.Gly35974=) c.102999G>A (p.Gly34333=) n.446+3430C>T n.219+3430C>T c.107019G>A (p.Gly35673=) c.80913G>A (p.Gly26971=) c.80772G>A (p.Gly26924=) c.106815G>A (p.Gly35605=) c.102213G>A (p.Gly34071=) c.102210G>A (p.Gly34070=) c.99252G>A (p.Gly33084=) c.80868G>A (p.Gly26956=) c.102363G>A (p.Gly34121=) c.102360G>A (p.Gly34120=) c.101793G>A (p.Gly33931=) c.99135G>A (p.Gly33045=) c.99054G>A (p.Gly33018=) c.80817G>A (p.Gly26939=) c.70671G>A (p.Gly23557=) | |
2 | g.178527067C>A | CA349398304 | TTN,TTN-AS1 | c.100217G>T (p.Gly33406Val) c.81302G>T (p.Gly27101Val) c.81101G>T (p.Gly27034Val) c.80726G>T (p.Gly26909Val) c.107921G>T (p.Gly35974Val) c.102998G>T (p.Gly34333Val) n.446+3431C>A n.219+3431C>A c.107018G>T (p.Gly35673Val) c.80912G>T (p.Gly26971Val) c.80771G>T (p.Gly26924Val) c.106814G>T (p.Gly35605Val) c.102212G>T (p.Gly34071Val) c.102209G>T (p.Gly34070Val) c.99251G>T (p.Gly33084Val) c.80867G>T (p.Gly26956Val) c.102362G>T (p.Gly34121Val) c.102359G>T (p.Gly34120Val) c.101792G>T (p.Gly33931Val) c.99134G>T (p.Gly33045Val) c.99053G>T (p.Gly33018Val) c.80816G>T (p.Gly26939Val) c.70670G>T (p.Gly23557Val) | |
2 | g.178527067C>G | CA349398307 | TTN,TTN-AS1 | c.100217G>C (p.Gly33406Ala) c.81302G>C (p.Gly27101Ala) c.81101G>C (p.Gly27034Ala) c.80726G>C (p.Gly26909Ala) c.107921G>C (p.Gly35974Ala) c.102998G>C (p.Gly34333Ala) n.446+3431C>G n.219+3431C>G c.107018G>C (p.Gly35673Ala) c.80912G>C (p.Gly26971Ala) c.80771G>C (p.Gly26924Ala) c.106814G>C (p.Gly35605Ala) c.102212G>C (p.Gly34071Ala) c.102209G>C (p.Gly34070Ala) c.99251G>C (p.Gly33084Ala) c.80867G>C (p.Gly26956Ala) c.102362G>C (p.Gly34121Ala) c.102359G>C (p.Gly34120Ala) c.101792G>C (p.Gly33931Ala) c.99134G>C (p.Gly33045Ala) c.99053G>C (p.Gly33018Ala) c.80816G>C (p.Gly26939Ala) c.70670G>C (p.Gly23557Ala) | |
2 | g.178527067C>T | CA349398305 | TTN,TTN-AS1 | c.100217G>A (p.Gly33406Glu) c.81302G>A (p.Gly27101Glu) c.81101G>A (p.Gly27034Glu) c.80726G>A (p.Gly26909Glu) c.107921G>A (p.Gly35974Glu) c.102998G>A (p.Gly34333Glu) n.446+3431C>T n.219+3431C>T c.107018G>A (p.Gly35673Glu) c.80912G>A (p.Gly26971Glu) c.80771G>A (p.Gly26924Glu) c.106814G>A (p.Gly35605Glu) c.102212G>A (p.Gly34071Glu) c.102209G>A (p.Gly34070Glu) c.99251G>A (p.Gly33084Glu) c.80867G>A (p.Gly26956Glu) c.102362G>A (p.Gly34121Glu) c.102359G>A (p.Gly34120Glu) c.101792G>A (p.Gly33931Glu) c.99134G>A (p.Gly33045Glu) c.99053G>A (p.Gly33018Glu) c.80816G>A (p.Gly26939Glu) c.70670G>A (p.Gly23557Glu) | |
2 | g.178527068C>A | CA349398310 | TTN,TTN-AS1 | c.100216G>T (p.Gly33406Trp) c.81301G>T (p.Gly27101Trp) c.81100G>T (p.Gly27034Trp) c.80725G>T (p.Gly26909Trp) c.107920G>T (p.Gly35974Trp) c.102997G>T (p.Gly34333Trp) n.446+3432C>A n.219+3432C>A c.107017G>T (p.Gly35673Trp) c.80911G>T (p.Gly26971Trp) c.80770G>T (p.Gly26924Trp) c.106813G>T (p.Gly35605Trp) c.102211G>T (p.Gly34071Trp) c.102208G>T (p.Gly34070Trp) c.99250G>T (p.Gly33084Trp) c.80866G>T (p.Gly26956Trp) c.102361G>T (p.Gly34121Trp) c.102358G>T (p.Gly34120Trp) c.101791G>T (p.Gly33931Trp) c.99133G>T (p.Gly33045Trp) c.99052G>T (p.Gly33018Trp) c.80815G>T (p.Gly26939Trp) c.70669G>T (p.Gly23557Trp) | |
2 | g.178527068C= | CA1310514283 | TTN,TTN-AS1 | c.100216G= (p.Gly33406=) c.81301G= (p.Gly27101=) c.81100G= (p.Gly27034=) c.80725G= (p.Gly26909=) c.107920G= (p.Gly35974=) c.102997G= (p.Gly34333=) n.446+3432C= n.219+3432C= c.107017G= (p.Gly35673=) c.80911G= (p.Gly26971=) c.80770G= (p.Gly26924=) c.106813G= (p.Gly35605=) c.102211G= (p.Gly34071=) c.102208G= (p.Gly34070=) c.99250G= (p.Gly33084=) c.80866G= (p.Gly26956=) c.102361G= (p.Gly34121=) c.102358G= (p.Gly34120=) c.101791G= (p.Gly33931=) c.99133G= (p.Gly33045=) c.99052G= (p.Gly33018=) c.80815G= (p.Gly26939=) c.70669G= (p.Gly23557=) | |
2 | g.178527068C>G | CA349398313 | TTN,TTN-AS1 | c.100216G>C (p.Gly33406Arg) c.81301G>C (p.Gly27101Arg) c.81100G>C (p.Gly27034Arg) c.80725G>C (p.Gly26909Arg) c.107920G>C (p.Gly35974Arg) c.102997G>C (p.Gly34333Arg) n.446+3432C>G n.219+3432C>G c.107017G>C (p.Gly35673Arg) c.80911G>C (p.Gly26971Arg) c.80770G>C (p.Gly26924Arg) c.106813G>C (p.Gly35605Arg) c.102211G>C (p.Gly34071Arg) c.102208G>C (p.Gly34070Arg) c.99250G>C (p.Gly33084Arg) c.80866G>C (p.Gly26956Arg) c.102361G>C (p.Gly34121Arg) c.102358G>C (p.Gly34120Arg) c.101791G>C (p.Gly33931Arg) c.99133G>C (p.Gly33045Arg) c.99052G>C (p.Gly33018Arg) c.80815G>C (p.Gly26939Arg) c.70669G>C (p.Gly23557Arg) | gnomAD v4 |
2 | g.178527068C>T | CA1984856 | TTN,TTN-AS1 | c.100216G>A (p.Gly33406Arg) c.81301G>A (p.Gly27101Arg) c.81100G>A (p.Gly27034Arg) c.80725G>A (p.Gly26909Arg) c.107920G>A (p.Gly35974Arg) c.102997G>A (p.Gly34333Arg) n.446+3432C>T n.219+3432C>T c.107017G>A (p.Gly35673Arg) c.80911G>A (p.Gly26971Arg) c.80770G>A (p.Gly26924Arg) c.106813G>A (p.Gly35605Arg) c.102211G>A (p.Gly34071Arg) c.102208G>A (p.Gly34070Arg) c.99250G>A (p.Gly33084Arg) c.80866G>A (p.Gly26956Arg) c.102361G>A (p.Gly34121Arg) c.102358G>A (p.Gly34120Arg) c.101791G>A (p.Gly33931Arg) c.99133G>A (p.Gly33045Arg) c.99052G>A (p.Gly33018Arg) c.80815G>A (p.Gly26939Arg) c.70669G>A (p.Gly23557Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527069T>A | CA349398319 | TTN,TTN-AS1 | c.100215A>T (p.Leu33405Phe) c.81300A>T (p.Leu27100Phe) c.81099A>T (p.Leu27033Phe) c.80724A>T (p.Leu26908Phe) c.107919A>T (p.Leu35973Phe) c.102996A>T (p.Leu34332Phe) n.446+3433T>A n.219+3433T>A c.107016A>T (p.Leu35672Phe) c.80910A>T (p.Leu26970Phe) c.80769A>T (p.Leu26923Phe) c.106812A>T (p.Leu35604Phe) c.102210A>T (p.Leu34070Phe) c.102207A>T (p.Leu34069Phe) c.99249A>T (p.Leu33083Phe) c.80865A>T (p.Leu26955Phe) c.102360A>T (p.Leu34120Phe) c.102357A>T (p.Leu34119Phe) c.101790A>T (p.Leu33930Phe) c.99132A>T (p.Leu33044Phe) c.99051A>T (p.Leu33017Phe) c.80814A>T (p.Leu26938Phe) c.70668A>T (p.Leu23556Phe) | |
2 | g.178527069T>C | CA430091530 | TTN,TTN-AS1 | c.100215A>G (p.Leu33405=) c.81300A>G (p.Leu27100=) c.81099A>G (p.Leu27033=) c.80724A>G (p.Leu26908=) c.107919A>G (p.Leu35973=) c.102996A>G (p.Leu34332=) n.446+3433T>C n.219+3433T>C c.107016A>G (p.Leu35672=) c.80910A>G (p.Leu26970=) c.80769A>G (p.Leu26923=) c.106812A>G (p.Leu35604=) c.102210A>G (p.Leu34070=) c.102207A>G (p.Leu34069=) c.99249A>G (p.Leu33083=) c.80865A>G (p.Leu26955=) c.102360A>G (p.Leu34120=) c.102357A>G (p.Leu34119=) c.101790A>G (p.Leu33930=) c.99132A>G (p.Leu33044=) c.99051A>G (p.Leu33017=) c.80814A>G (p.Leu26938=) c.70668A>G (p.Leu23556=) | |
2 | g.178527069T>G | CA349398321 | TTN,TTN-AS1 | c.100215A>C (p.Leu33405Phe) c.81300A>C (p.Leu27100Phe) c.81099A>C (p.Leu27033Phe) c.80724A>C (p.Leu26908Phe) c.107919A>C (p.Leu35973Phe) c.102996A>C (p.Leu34332Phe) n.446+3433T>G n.219+3433T>G c.107016A>C (p.Leu35672Phe) c.80910A>C (p.Leu26970Phe) c.80769A>C (p.Leu26923Phe) c.106812A>C (p.Leu35604Phe) c.102210A>C (p.Leu34070Phe) c.102207A>C (p.Leu34069Phe) c.99249A>C (p.Leu33083Phe) c.80865A>C (p.Leu26955Phe) c.102360A>C (p.Leu34120Phe) c.102357A>C (p.Leu34119Phe) c.101790A>C (p.Leu33930Phe) c.99132A>C (p.Leu33044Phe) c.99051A>C (p.Leu33017Phe) c.80814A>C (p.Leu26938Phe) c.70668A>C (p.Leu23556Phe) | |
2 | g.178527070A>C | CA349398324 | TTN,TTN-AS1 | c.100214T>G (p.Leu33405Ter) c.81299T>G (p.Leu27100Ter) c.81098T>G (p.Leu27033Ter) c.80723T>G (p.Leu26908Ter) c.107918T>G (p.Leu35973Ter) c.102995T>G (p.Leu34332Ter) n.446+3434A>C n.219+3434A>C c.107015T>G (p.Leu35672Ter) c.80909T>G (p.Leu26970Ter) c.80768T>G (p.Leu26923Ter) c.106811T>G (p.Leu35604Ter) c.102209T>G (p.Leu34070Ter) c.102206T>G (p.Leu34069Ter) c.99248T>G (p.Leu33083Ter) c.80864T>G (p.Leu26955Ter) c.102359T>G (p.Leu34120Ter) c.102356T>G (p.Leu34119Ter) c.101789T>G (p.Leu33930Ter) c.99131T>G (p.Leu33044Ter) c.99050T>G (p.Leu33017Ter) c.80813T>G (p.Leu26938Ter) c.70667T>G (p.Leu23556Ter) | |
2 | g.178527070A>G | CA349398327 | TTN,TTN-AS1 | c.100214T>C (p.Leu33405Ser) c.81299T>C (p.Leu27100Ser) c.81098T>C (p.Leu27033Ser) c.80723T>C (p.Leu26908Ser) c.107918T>C (p.Leu35973Ser) c.102995T>C (p.Leu34332Ser) n.446+3434A>G n.219+3434A>G c.107015T>C (p.Leu35672Ser) c.80909T>C (p.Leu26970Ser) c.80768T>C (p.Leu26923Ser) c.106811T>C (p.Leu35604Ser) c.102209T>C (p.Leu34070Ser) c.102206T>C (p.Leu34069Ser) c.99248T>C (p.Leu33083Ser) c.80864T>C (p.Leu26955Ser) c.102359T>C (p.Leu34120Ser) c.102356T>C (p.Leu34119Ser) c.101789T>C (p.Leu33930Ser) c.99131T>C (p.Leu33044Ser) c.99050T>C (p.Leu33017Ser) c.80813T>C (p.Leu26938Ser) c.70667T>C (p.Leu23556Ser) | |
2 | g.178527070A>T | CA349398330 | TTN,TTN-AS1 | c.100214T>A (p.Leu33405Ter) c.81299T>A (p.Leu27100Ter) c.81098T>A (p.Leu27033Ter) c.80723T>A (p.Leu26908Ter) c.107918T>A (p.Leu35973Ter) c.102995T>A (p.Leu34332Ter) n.446+3434A>T n.219+3434A>T c.107015T>A (p.Leu35672Ter) c.80909T>A (p.Leu26970Ter) c.80768T>A (p.Leu26923Ter) c.106811T>A (p.Leu35604Ter) c.102209T>A (p.Leu34070Ter) c.102206T>A (p.Leu34069Ter) c.99248T>A (p.Leu33083Ter) c.80864T>A (p.Leu26955Ter) c.102359T>A (p.Leu34120Ter) c.102356T>A (p.Leu34119Ter) c.101789T>A (p.Leu33930Ter) c.99131T>A (p.Leu33044Ter) c.99050T>A (p.Leu33017Ter) c.80813T>A (p.Leu26938Ter) c.70667T>A (p.Leu23556Ter) | |
2 | g.178527071A>C | CA349398332 | TTN,TTN-AS1 | c.100213T>G (p.Leu33405Val) c.81298T>G (p.Leu27100Val) c.81097T>G (p.Leu27033Val) c.80722T>G (p.Leu26908Val) c.107917T>G (p.Leu35973Val) c.102994T>G (p.Leu34332Val) n.446+3435A>C n.219+3435A>C c.107014T>G (p.Leu35672Val) c.80908T>G (p.Leu26970Val) c.80767T>G (p.Leu26923Val) c.106810T>G (p.Leu35604Val) c.102208T>G (p.Leu34070Val) c.102205T>G (p.Leu34069Val) c.99247T>G (p.Leu33083Val) c.80863T>G (p.Leu26955Val) c.102358T>G (p.Leu34120Val) c.102355T>G (p.Leu34119Val) c.101788T>G (p.Leu33930Val) c.99130T>G (p.Leu33044Val) c.99049T>G (p.Leu33017Val) c.80812T>G (p.Leu26938Val) c.70666T>G (p.Leu23556Val) | |
2 | g.178527071A>G | CA430091537 | TTN,TTN-AS1 | c.100213T>C (p.Leu33405=) c.81298T>C (p.Leu27100=) c.81097T>C (p.Leu27033=) c.80722T>C (p.Leu26908=) c.107917T>C (p.Leu35973=) c.102994T>C (p.Leu34332=) n.446+3435A>G n.219+3435A>G c.107014T>C (p.Leu35672=) c.80908T>C (p.Leu26970=) c.80767T>C (p.Leu26923=) c.106810T>C (p.Leu35604=) c.102208T>C (p.Leu34070=) c.102205T>C (p.Leu34069=) c.99247T>C (p.Leu33083=) c.80863T>C (p.Leu26955=) c.102358T>C (p.Leu34120=) c.102355T>C (p.Leu34119=) c.101788T>C (p.Leu33930=) c.99130T>C (p.Leu33044=) c.99049T>C (p.Leu33017=) c.80812T>C (p.Leu26938=) c.70666T>C (p.Leu23556=) | |
2 | g.178527071A>T | CA349398334 | TTN,TTN-AS1 | c.100213T>A (p.Leu33405Ile) c.81298T>A (p.Leu27100Ile) c.81097T>A (p.Leu27033Ile) c.80722T>A (p.Leu26908Ile) c.107917T>A (p.Leu35973Ile) c.102994T>A (p.Leu34332Ile) n.446+3435A>T n.219+3435A>T c.107014T>A (p.Leu35672Ile) c.80908T>A (p.Leu26970Ile) c.80767T>A (p.Leu26923Ile) c.106810T>A (p.Leu35604Ile) c.102208T>A (p.Leu34070Ile) c.102205T>A (p.Leu34069Ile) c.99247T>A (p.Leu33083Ile) c.80863T>A (p.Leu26955Ile) c.102358T>A (p.Leu34120Ile) c.102355T>A (p.Leu34119Ile) c.101788T>A (p.Leu33930Ile) c.99130T>A (p.Leu33044Ile) c.99049T>A (p.Leu33017Ile) c.80812T>A (p.Leu26938Ile) c.70666T>A (p.Leu23556Ile) | |
2 | g.178527072A= | CA1310514284 | TTN,TTN-AS1 | c.100212T= (p.Ser33404=) c.81297T= (p.Ser27099=) c.81096T= (p.Ser27032=) c.80721T= (p.Ser26907=) c.107916T= (p.Ser35972=) c.102993T= (p.Ser34331=) n.446+3436A= n.219+3436A= c.107013T= (p.Ser35671=) c.80907T= (p.Ser26969=) c.80766T= (p.Ser26922=) c.106809T= (p.Ser35603=) c.102207T= (p.Ser34069=) c.102204T= (p.Ser34068=) c.99246T= (p.Ser33082=) c.80862T= (p.Ser26954=) c.102357T= (p.Ser34119=) c.102354T= (p.Ser34118=) c.101787T= (p.Ser33929=) c.99129T= (p.Ser33043=) c.99048T= (p.Ser33016=) c.80811T= (p.Ser26937=) c.70665T= (p.Ser23555=) | |
2 | g.178527072A>C | CA349398338 | TTN,TTN-AS1 | c.100212T>G (p.Ser33404Arg) c.81297T>G (p.Ser27099Arg) c.81096T>G (p.Ser27032Arg) c.80721T>G (p.Ser26907Arg) c.107916T>G (p.Ser35972Arg) c.102993T>G (p.Ser34331Arg) n.446+3436A>C n.219+3436A>C c.107013T>G (p.Ser35671Arg) c.80907T>G (p.Ser26969Arg) c.80766T>G (p.Ser26922Arg) c.106809T>G (p.Ser35603Arg) c.102207T>G (p.Ser34069Arg) c.102204T>G (p.Ser34068Arg) c.99246T>G (p.Ser33082Arg) c.80862T>G (p.Ser26954Arg) c.102357T>G (p.Ser34119Arg) c.102354T>G (p.Ser34118Arg) c.101787T>G (p.Ser33929Arg) c.99129T>G (p.Ser33043Arg) c.99048T>G (p.Ser33016Arg) c.80811T>G (p.Ser26937Arg) c.70665T>G (p.Ser23555Arg) | |
2 | g.178527072A>G | CA430091543 | TTN,TTN-AS1 | c.100212T>C (p.Ser33404=) c.81297T>C (p.Ser27099=) c.81096T>C (p.Ser27032=) c.80721T>C (p.Ser26907=) c.107916T>C (p.Ser35972=) c.102993T>C (p.Ser34331=) n.446+3436A>G n.219+3436A>G c.107013T>C (p.Ser35671=) c.80907T>C (p.Ser26969=) c.80766T>C (p.Ser26922=) c.106809T>C (p.Ser35603=) c.102207T>C (p.Ser34069=) c.102204T>C (p.Ser34068=) c.99246T>C (p.Ser33082=) c.80862T>C (p.Ser26954=) c.102357T>C (p.Ser34119=) c.102354T>C (p.Ser34118=) c.101787T>C (p.Ser33929=) c.99129T>C (p.Ser33043=) c.99048T>C (p.Ser33016=) c.80811T>C (p.Ser26937=) c.70665T>C (p.Ser23555=) | dbSNP |
2 | g.178527072A>T | CA349398340 | TTN,TTN-AS1 | c.100212T>A (p.Ser33404Arg) c.81297T>A (p.Ser27099Arg) c.81096T>A (p.Ser27032Arg) c.80721T>A (p.Ser26907Arg) c.107916T>A (p.Ser35972Arg) c.102993T>A (p.Ser34331Arg) n.446+3436A>T n.219+3436A>T c.107013T>A (p.Ser35671Arg) c.80907T>A (p.Ser26969Arg) c.80766T>A (p.Ser26922Arg) c.106809T>A (p.Ser35603Arg) c.102207T>A (p.Ser34069Arg) c.102204T>A (p.Ser34068Arg) c.99246T>A (p.Ser33082Arg) c.80862T>A (p.Ser26954Arg) c.102357T>A (p.Ser34119Arg) c.102354T>A (p.Ser34118Arg) c.101787T>A (p.Ser33929Arg) c.99129T>A (p.Ser33043Arg) c.99048T>A (p.Ser33016Arg) c.80811T>A (p.Ser26937Arg) c.70665T>A (p.Ser23555Arg) | gnomAD v4 |
2 | g.178527073C>A | CA138651 | TTN,TTN-AS1 | c.100211G>T (p.Ser33404Ile) c.81296G>T (p.Ser27099Ile) c.81095G>T (p.Ser27032Ile) c.80720G>T (p.Ser26907Ile) c.107915G>T (p.Ser35972Ile) c.102992G>T (p.Ser34331Ile) n.446+3437C>A n.219+3437C>A c.107012G>T (p.Ser35671Ile) c.80906G>T (p.Ser26969Ile) c.80765G>T (p.Ser26922Ile) c.106808G>T (p.Ser35603Ile) c.102206G>T (p.Ser34069Ile) c.102203G>T (p.Ser34068Ile) c.99245G>T (p.Ser33082Ile) c.80861G>T (p.Ser26954Ile) c.102356G>T (p.Ser34119Ile) c.102353G>T (p.Ser34118Ile) c.101786G>T (p.Ser33929Ile) c.99128G>T (p.Ser33043Ile) c.99047G>T (p.Ser33016Ile) c.80810G>T (p.Ser26937Ile) c.70664G>T (p.Ser23555Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527073C= | CA1310514285 | TTN,TTN-AS1 | c.100211G= (p.Ser33404=) c.81296G= (p.Ser27099=) c.81095G= (p.Ser27032=) c.80720G= (p.Ser26907=) c.107915G= (p.Ser35972=) c.102992G= (p.Ser34331=) n.446+3437C= n.219+3437C= c.107012G= (p.Ser35671=) c.80906G= (p.Ser26969=) c.80765G= (p.Ser26922=) c.106808G= (p.Ser35603=) c.102206G= (p.Ser34069=) c.102203G= (p.Ser34068=) c.99245G= (p.Ser33082=) c.80861G= (p.Ser26954=) c.102356G= (p.Ser34119=) c.102353G= (p.Ser34118=) c.101786G= (p.Ser33929=) c.99128G= (p.Ser33043=) c.99047G= (p.Ser33016=) c.80810G= (p.Ser26937=) c.70664G= (p.Ser23555=) | |
2 | g.178527073C>G | CA349398345 | TTN,TTN-AS1 | c.100211G>C (p.Ser33404Thr) c.81296G>C (p.Ser27099Thr) c.81095G>C (p.Ser27032Thr) c.80720G>C (p.Ser26907Thr) c.107915G>C (p.Ser35972Thr) c.102992G>C (p.Ser34331Thr) n.446+3437C>G n.219+3437C>G c.107012G>C (p.Ser35671Thr) c.80906G>C (p.Ser26969Thr) c.80765G>C (p.Ser26922Thr) c.106808G>C (p.Ser35603Thr) c.102206G>C (p.Ser34069Thr) c.102203G>C (p.Ser34068Thr) c.99245G>C (p.Ser33082Thr) c.80861G>C (p.Ser26954Thr) c.102356G>C (p.Ser34119Thr) c.102353G>C (p.Ser34118Thr) c.101786G>C (p.Ser33929Thr) c.99128G>C (p.Ser33043Thr) c.99047G>C (p.Ser33016Thr) c.80810G>C (p.Ser26937Thr) c.70664G>C (p.Ser23555Thr) | |
2 | g.178527073C>T | CA349398343 | TTN,TTN-AS1 | c.100211G>A (p.Ser33404Asn) c.81296G>A (p.Ser27099Asn) c.81095G>A (p.Ser27032Asn) c.80720G>A (p.Ser26907Asn) c.107915G>A (p.Ser35972Asn) c.102992G>A (p.Ser34331Asn) n.446+3437C>T n.219+3437C>T c.107012G>A (p.Ser35671Asn) c.80906G>A (p.Ser26969Asn) c.80765G>A (p.Ser26922Asn) c.106808G>A (p.Ser35603Asn) c.102206G>A (p.Ser34069Asn) c.102203G>A (p.Ser34068Asn) c.99245G>A (p.Ser33082Asn) c.80861G>A (p.Ser26954Asn) c.102356G>A (p.Ser34119Asn) c.102353G>A (p.Ser34118Asn) c.101786G>A (p.Ser33929Asn) c.99128G>A (p.Ser33043Asn) c.99047G>A (p.Ser33016Asn) c.80810G>A (p.Ser26937Asn) c.70664G>A (p.Ser23555Asn) | gnomAD v4 |
2 | g.178527074T>A | CA349398356 | TTN,TTN-AS1 | c.100210A>T (p.Ser33404Cys) c.81295A>T (p.Ser27099Cys) c.81094A>T (p.Ser27032Cys) c.80719A>T (p.Ser26907Cys) c.107914A>T (p.Ser35972Cys) c.102991A>T (p.Ser34331Cys) n.446+3438T>A n.219+3438T>A c.107011A>T (p.Ser35671Cys) c.80905A>T (p.Ser26969Cys) c.80764A>T (p.Ser26922Cys) c.106807A>T (p.Ser35603Cys) c.102205A>T (p.Ser34069Cys) c.102202A>T (p.Ser34068Cys) c.99244A>T (p.Ser33082Cys) c.80860A>T (p.Ser26954Cys) c.102355A>T (p.Ser34119Cys) c.102352A>T (p.Ser34118Cys) c.101785A>T (p.Ser33929Cys) c.99127A>T (p.Ser33043Cys) c.99046A>T (p.Ser33016Cys) c.80809A>T (p.Ser26937Cys) c.70663A>T (p.Ser23555Cys) | |
2 | g.178527074T>C | CA349398351 | TTN,TTN-AS1 | c.100210A>G (p.Ser33404Gly) c.81295A>G (p.Ser27099Gly) c.81094A>G (p.Ser27032Gly) c.80719A>G (p.Ser26907Gly) c.107914A>G (p.Ser35972Gly) c.102991A>G (p.Ser34331Gly) n.446+3438T>C n.219+3438T>C c.107011A>G (p.Ser35671Gly) c.80905A>G (p.Ser26969Gly) c.80764A>G (p.Ser26922Gly) c.106807A>G (p.Ser35603Gly) c.102205A>G (p.Ser34069Gly) c.102202A>G (p.Ser34068Gly) c.99244A>G (p.Ser33082Gly) c.80860A>G (p.Ser26954Gly) c.102355A>G (p.Ser34119Gly) c.102352A>G (p.Ser34118Gly) c.101785A>G (p.Ser33929Gly) c.99127A>G (p.Ser33043Gly) c.99046A>G (p.Ser33016Gly) c.80809A>G (p.Ser26937Gly) c.70663A>G (p.Ser23555Gly) | |
2 | g.178527074T>G | CA349398353 | TTN,TTN-AS1 | c.100210A>C (p.Ser33404Arg) c.81295A>C (p.Ser27099Arg) c.81094A>C (p.Ser27032Arg) c.80719A>C (p.Ser26907Arg) c.107914A>C (p.Ser35972Arg) c.102991A>C (p.Ser34331Arg) n.446+3438T>G n.219+3438T>G c.107011A>C (p.Ser35671Arg) c.80905A>C (p.Ser26969Arg) c.80764A>C (p.Ser26922Arg) c.106807A>C (p.Ser35603Arg) c.102205A>C (p.Ser34069Arg) c.102202A>C (p.Ser34068Arg) c.99244A>C (p.Ser33082Arg) c.80860A>C (p.Ser26954Arg) c.102355A>C (p.Ser34119Arg) c.102352A>C (p.Ser34118Arg) c.101785A>C (p.Ser33929Arg) c.99127A>C (p.Ser33043Arg) c.99046A>C (p.Ser33016Arg) c.80809A>C (p.Ser26937Arg) c.70663A>C (p.Ser23555Arg) | |
2 | g.178527075C>A | CA430091556 | TTN,TTN-AS1 | c.100209G>T (p.Leu33403=) c.81294G>T (p.Leu27098=) c.81093G>T (p.Leu27031=) c.80718G>T (p.Leu26906=) c.107913G>T (p.Leu35971=) c.102990G>T (p.Leu34330=) n.446+3439C>A n.219+3439C>A c.107010G>T (p.Leu35670=) c.80904G>T (p.Leu26968=) c.80763G>T (p.Leu26921=) c.106806G>T (p.Leu35602=) c.102204G>T (p.Leu34068=) c.102201G>T (p.Leu34067=) c.99243G>T (p.Leu33081=) c.80859G>T (p.Leu26953=) c.102354G>T (p.Leu34118=) c.102351G>T (p.Leu34117=) c.101784G>T (p.Leu33928=) c.99126G>T (p.Leu33042=) c.99045G>T (p.Leu33015=) c.80808G>T (p.Leu26936=) c.70662G>T (p.Leu23554=) | |
2 | g.178527075C= | CA1310514286 | TTN,TTN-AS1 | c.100209G= (p.Leu33403=) c.81294G= (p.Leu27098=) c.81093G= (p.Leu27031=) c.80718G= (p.Leu26906=) c.107913G= (p.Leu35971=) c.102990G= (p.Leu34330=) n.446+3439C= n.219+3439C= c.107010G= (p.Leu35670=) c.80904G= (p.Leu26968=) c.80763G= (p.Leu26921=) c.106806G= (p.Leu35602=) c.102204G= (p.Leu34068=) c.102201G= (p.Leu34067=) c.99243G= (p.Leu33081=) c.80859G= (p.Leu26953=) c.102354G= (p.Leu34118=) c.102351G= (p.Leu34117=) c.101784G= (p.Leu33928=) c.99126G= (p.Leu33042=) c.99045G= (p.Leu33015=) c.80808G= (p.Leu26936=) c.70662G= (p.Leu23554=) | |
2 | g.178527075C>G | CA430091558 | TTN,TTN-AS1 | c.100209G>C (p.Leu33403=) c.81294G>C (p.Leu27098=) c.81093G>C (p.Leu27031=) c.80718G>C (p.Leu26906=) c.107913G>C (p.Leu35971=) c.102990G>C (p.Leu34330=) n.446+3439C>G n.219+3439C>G c.107010G>C (p.Leu35670=) c.80904G>C (p.Leu26968=) c.80763G>C (p.Leu26921=) c.106806G>C (p.Leu35602=) c.102204G>C (p.Leu34068=) c.102201G>C (p.Leu34067=) c.99243G>C (p.Leu33081=) c.80859G>C (p.Leu26953=) c.102354G>C (p.Leu34118=) c.102351G>C (p.Leu34117=) c.101784G>C (p.Leu33928=) c.99126G>C (p.Leu33042=) c.99045G>C (p.Leu33015=) c.80808G>C (p.Leu26936=) c.70662G>C (p.Leu23554=) | ClinVar dbSNP |
2 | g.178527075C>T | CA430091559 | TTN,TTN-AS1 | c.100209G>A (p.Leu33403=) c.81294G>A (p.Leu27098=) c.81093G>A (p.Leu27031=) c.80718G>A (p.Leu26906=) c.107913G>A (p.Leu35971=) c.102990G>A (p.Leu34330=) n.446+3439C>T n.219+3439C>T c.107010G>A (p.Leu35670=) c.80904G>A (p.Leu26968=) c.80763G>A (p.Leu26921=) c.106806G>A (p.Leu35602=) c.102204G>A (p.Leu34068=) c.102201G>A (p.Leu34067=) c.99243G>A (p.Leu33081=) c.80859G>A (p.Leu26953=) c.102354G>A (p.Leu34118=) c.102351G>A (p.Leu34117=) c.101784G>A (p.Leu33928=) c.99126G>A (p.Leu33042=) c.99045G>A (p.Leu33015=) c.80808G>A (p.Leu26936=) c.70662G>A (p.Leu23554=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527076A= | CA1310514287 | TTN,TTN-AS1 | c.100208T= (p.Leu33403=) c.81293T= (p.Leu27098=) c.81092T= (p.Leu27031=) c.80717T= (p.Leu26906=) c.107912T= (p.Leu35971=) c.102989T= (p.Leu34330=) n.446+3440A= n.219+3440A= c.107009T= (p.Leu35670=) c.80903T= (p.Leu26968=) c.80762T= (p.Leu26921=) c.106805T= (p.Leu35602=) c.102203T= (p.Leu34068=) c.102200T= (p.Leu34067=) c.99242T= (p.Leu33081=) c.80858T= (p.Leu26953=) c.102353T= (p.Leu34118=) c.102350T= (p.Leu34117=) c.101783T= (p.Leu33928=) c.99125T= (p.Leu33042=) c.99044T= (p.Leu33015=) c.80807T= (p.Leu26936=) c.70661T= (p.Leu23554=) | |
2 | g.178527076A>C | CA349398359 | TTN,TTN-AS1 | c.100208T>G (p.Leu33403Arg) c.81293T>G (p.Leu27098Arg) c.81092T>G (p.Leu27031Arg) c.80717T>G (p.Leu26906Arg) c.107912T>G (p.Leu35971Arg) c.102989T>G (p.Leu34330Arg) n.446+3440A>C n.219+3440A>C c.107009T>G (p.Leu35670Arg) c.80903T>G (p.Leu26968Arg) c.80762T>G (p.Leu26921Arg) c.106805T>G (p.Leu35602Arg) c.102203T>G (p.Leu34068Arg) c.102200T>G (p.Leu34067Arg) c.99242T>G (p.Leu33081Arg) c.80858T>G (p.Leu26953Arg) c.102353T>G (p.Leu34118Arg) c.102350T>G (p.Leu34117Arg) c.101783T>G (p.Leu33928Arg) c.99125T>G (p.Leu33042Arg) c.99044T>G (p.Leu33015Arg) c.80807T>G (p.Leu26936Arg) c.70661T>G (p.Leu23554Arg) | |
2 | g.178527076A>G | CA349398361 | TTN,TTN-AS1 | c.100208T>C (p.Leu33403Pro) c.81293T>C (p.Leu27098Pro) c.81092T>C (p.Leu27031Pro) c.80717T>C (p.Leu26906Pro) c.107912T>C (p.Leu35971Pro) c.102989T>C (p.Leu34330Pro) n.446+3440A>G n.219+3440A>G c.107009T>C (p.Leu35670Pro) c.80903T>C (p.Leu26968Pro) c.80762T>C (p.Leu26921Pro) c.106805T>C (p.Leu35602Pro) c.102203T>C (p.Leu34068Pro) c.102200T>C (p.Leu34067Pro) c.99242T>C (p.Leu33081Pro) c.80858T>C (p.Leu26953Pro) c.102353T>C (p.Leu34118Pro) c.102350T>C (p.Leu34117Pro) c.101783T>C (p.Leu33928Pro) c.99125T>C (p.Leu33042Pro) c.99044T>C (p.Leu33015Pro) c.80807T>C (p.Leu26936Pro) c.70661T>C (p.Leu23554Pro) | |
2 | g.178527076A>T | CA349398362 | TTN,TTN-AS1 | c.100208T>A (p.Leu33403Gln) c.81293T>A (p.Leu27098Gln) c.81092T>A (p.Leu27031Gln) c.80717T>A (p.Leu26906Gln) c.107912T>A (p.Leu35971Gln) c.102989T>A (p.Leu34330Gln) n.446+3440A>T n.219+3440A>T c.107009T>A (p.Leu35670Gln) c.80903T>A (p.Leu26968Gln) c.80762T>A (p.Leu26921Gln) c.106805T>A (p.Leu35602Gln) c.102203T>A (p.Leu34068Gln) c.102200T>A (p.Leu34067Gln) c.99242T>A (p.Leu33081Gln) c.80858T>A (p.Leu26953Gln) c.102353T>A (p.Leu34118Gln) c.102350T>A (p.Leu34117Gln) c.101783T>A (p.Leu33928Gln) c.99125T>A (p.Leu33042Gln) c.99044T>A (p.Leu33015Gln) c.80807T>A (p.Leu26936Gln) c.70661T>A (p.Leu23554Gln) | ClinVar dbSNP |
2 | g.178527076_178527077del | CA2573134048 | TTN,TTN-AS1 | c.100207_100208del (p.Leu33403GlufsTer5) c.81292_81293del (p.Leu27098GlufsTer5) c.81091_81092del (p.Leu27031GlufsTer5) c.80716_80717del (p.Leu26906GlufsTer5) c.107911_107912del (p.Leu35971GlufsTer5) c.102988_102989del (p.Leu34330GlufsTer5) n.446+3440_446+3441del n.219+3440_219+3441del c.107008_107009del (p.Leu35670GlufsTer5) c.80902_80903del (p.Leu26968GlufsTer5) c.80761_80762del (p.Leu26921GlufsTer5) c.106804_106805del (p.Leu35602GlufsTer5) c.102202_102203del (p.Leu34068GlufsTer5) c.102199_102200del (p.Leu34067GlufsTer5) c.99241_99242del (p.Leu33081GlufsTer5) c.80857_80858del (p.Leu26953GlufsTer5) c.102352_102353del (p.Leu34118GlufsTer5) c.102349_102350del (p.Leu34117GlufsTer5) c.101782_101783del (p.Leu33928GlufsTer5) c.99124_99125del (p.Leu33042GlufsTer5) c.99043_99044del (p.Leu33015GlufsTer5) c.80806_80807del (p.Leu26936GlufsTer5) c.70660_70661del (p.Leu23554GlufsTer5) | ClinVar dbSNP gnomAD v4 |
2 | g.178527077G>A | CA430091564 | TTN,TTN-AS1 | c.100207C>T (p.Leu33403=) c.81292C>T (p.Leu27098=) c.81091C>T (p.Leu27031=) c.80716C>T (p.Leu26906=) c.107911C>T (p.Leu35971=) c.102988C>T (p.Leu34330=) n.446+3441G>A n.219+3441G>A c.107008C>T (p.Leu35670=) c.80902C>T (p.Leu26968=) c.80761C>T (p.Leu26921=) c.106804C>T (p.Leu35602=) c.102202C>T (p.Leu34068=) c.102199C>T (p.Leu34067=) c.99241C>T (p.Leu33081=) c.80857C>T (p.Leu26953=) c.102352C>T (p.Leu34118=) c.102349C>T (p.Leu34117=) c.101782C>T (p.Leu33928=) c.99124C>T (p.Leu33042=) c.99043C>T (p.Leu33015=) c.80806C>T (p.Leu26936=) c.70660C>T (p.Leu23554=) | |
2 | g.178527077G>C | CA349398365 | TTN,TTN-AS1 | c.100207C>G (p.Leu33403Val) c.81292C>G (p.Leu27098Val) c.81091C>G (p.Leu27031Val) c.80716C>G (p.Leu26906Val) c.107911C>G (p.Leu35971Val) c.102988C>G (p.Leu34330Val) n.446+3441G>C n.219+3441G>C c.107008C>G (p.Leu35670Val) c.80902C>G (p.Leu26968Val) c.80761C>G (p.Leu26921Val) c.106804C>G (p.Leu35602Val) c.102202C>G (p.Leu34068Val) c.102199C>G (p.Leu34067Val) c.99241C>G (p.Leu33081Val) c.80857C>G (p.Leu26953Val) c.102352C>G (p.Leu34118Val) c.102349C>G (p.Leu34117Val) c.101782C>G (p.Leu33928Val) c.99124C>G (p.Leu33042Val) c.99043C>G (p.Leu33015Val) c.80806C>G (p.Leu26936Val) c.70660C>G (p.Leu23554Val) | gnomAD v4 |
2 | g.178527077G>T | CA349398368 | TTN,TTN-AS1 | c.100207C>A (p.Leu33403Met) c.81292C>A (p.Leu27098Met) c.81091C>A (p.Leu27031Met) c.80716C>A (p.Leu26906Met) c.107911C>A (p.Leu35971Met) c.102988C>A (p.Leu34330Met) n.446+3441G>T n.219+3441G>T c.107008C>A (p.Leu35670Met) c.80902C>A (p.Leu26968Met) c.80761C>A (p.Leu26921Met) c.106804C>A (p.Leu35602Met) c.102202C>A (p.Leu34068Met) c.102199C>A (p.Leu34067Met) c.99241C>A (p.Leu33081Met) c.80857C>A (p.Leu26953Met) c.102352C>A (p.Leu34118Met) c.102349C>A (p.Leu34117Met) c.101782C>A (p.Leu33928Met) c.99124C>A (p.Leu33042Met) c.99043C>A (p.Leu33015Met) c.80806C>A (p.Leu26936Met) c.70660C>A (p.Leu23554Met) | |
2 | g.178527078G>A | CA430091570 | TTN,TTN-AS1 | c.100206C>T (p.Thr33402=) c.81291C>T (p.Thr27097=) c.81090C>T (p.Thr27030=) c.80715C>T (p.Thr26905=) c.107910C>T (p.Thr35970=) c.102987C>T (p.Thr34329=) n.446+3442G>A n.219+3442G>A c.107007C>T (p.Thr35669=) c.80901C>T (p.Thr26967=) c.80760C>T (p.Thr26920=) c.106803C>T (p.Thr35601=) c.102201C>T (p.Thr34067=) c.102198C>T (p.Thr34066=) c.99240C>T (p.Thr33080=) c.80856C>T (p.Thr26952=) c.102351C>T (p.Thr34117=) c.102348C>T (p.Thr34116=) c.101781C>T (p.Thr33927=) c.99123C>T (p.Thr33041=) c.99042C>T (p.Thr33014=) c.80805C>T (p.Thr26935=) c.70659C>T (p.Thr23553=) | dbSNP gnomAD v4 |
2 | g.178527078G>C | CA430091571 | TTN,TTN-AS1 | c.100206C>G (p.Thr33402=) c.81291C>G (p.Thr27097=) c.81090C>G (p.Thr27030=) c.80715C>G (p.Thr26905=) c.107910C>G (p.Thr35970=) c.102987C>G (p.Thr34329=) n.446+3442G>C n.219+3442G>C c.107007C>G (p.Thr35669=) c.80901C>G (p.Thr26967=) c.80760C>G (p.Thr26920=) c.106803C>G (p.Thr35601=) c.102201C>G (p.Thr34067=) c.102198C>G (p.Thr34066=) c.99240C>G (p.Thr33080=) c.80856C>G (p.Thr26952=) c.102351C>G (p.Thr34117=) c.102348C>G (p.Thr34116=) c.101781C>G (p.Thr33927=) c.99123C>G (p.Thr33041=) c.99042C>G (p.Thr33014=) c.80805C>G (p.Thr26935=) c.70659C>G (p.Thr23553=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527078G= | CA1310514288 | TTN,TTN-AS1 | c.100206C= (p.Thr33402=) c.81291C= (p.Thr27097=) c.81090C= (p.Thr27030=) c.80715C= (p.Thr26905=) c.107910C= (p.Thr35970=) c.102987C= (p.Thr34329=) n.446+3442G= n.219+3442G= c.107007C= (p.Thr35669=) c.80901C= (p.Thr26967=) c.80760C= (p.Thr26920=) c.106803C= (p.Thr35601=) c.102201C= (p.Thr34067=) c.102198C= (p.Thr34066=) c.99240C= (p.Thr33080=) c.80856C= (p.Thr26952=) c.102351C= (p.Thr34117=) c.102348C= (p.Thr34116=) c.101781C= (p.Thr33927=) c.99123C= (p.Thr33041=) c.99042C= (p.Thr33014=) c.80805C= (p.Thr26935=) c.70659C= (p.Thr23553=) | |
2 | g.178527078G>T | CA430091574 | TTN,TTN-AS1 | c.100206C>A (p.Thr33402=) c.81291C>A (p.Thr27097=) c.81090C>A (p.Thr27030=) c.80715C>A (p.Thr26905=) c.107910C>A (p.Thr35970=) c.102987C>A (p.Thr34329=) n.446+3442G>T n.219+3442G>T c.107007C>A (p.Thr35669=) c.80901C>A (p.Thr26967=) c.80760C>A (p.Thr26920=) c.106803C>A (p.Thr35601=) c.102201C>A (p.Thr34067=) c.102198C>A (p.Thr34066=) c.99240C>A (p.Thr33080=) c.80856C>A (p.Thr26952=) c.102351C>A (p.Thr34117=) c.102348C>A (p.Thr34116=) c.101781C>A (p.Thr33927=) c.99123C>A (p.Thr33041=) c.99042C>A (p.Thr33014=) c.80805C>A (p.Thr26935=) c.70659C>A (p.Thr23553=) | gnomAD v4 |
2 | g.178527079G>A | CA349398371 | TTN,TTN-AS1 | c.100205C>T (p.Thr33402Ile) c.81290C>T (p.Thr27097Ile) c.81089C>T (p.Thr27030Ile) c.80714C>T (p.Thr26905Ile) c.107909C>T (p.Thr35970Ile) c.102986C>T (p.Thr34329Ile) n.446+3443G>A n.219+3443G>A c.107006C>T (p.Thr35669Ile) c.80900C>T (p.Thr26967Ile) c.80759C>T (p.Thr26920Ile) c.106802C>T (p.Thr35601Ile) c.102200C>T (p.Thr34067Ile) c.102197C>T (p.Thr34066Ile) c.99239C>T (p.Thr33080Ile) c.80855C>T (p.Thr26952Ile) c.102350C>T (p.Thr34117Ile) c.102347C>T (p.Thr34116Ile) c.101780C>T (p.Thr33927Ile) c.99122C>T (p.Thr33041Ile) c.99041C>T (p.Thr33014Ile) c.80804C>T (p.Thr26935Ile) c.70658C>T (p.Thr23553Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.178527079G>C | CA1984858 | TTN,TTN-AS1 | c.100205C>G (p.Thr33402Ser) c.81290C>G (p.Thr27097Ser) c.81089C>G (p.Thr27030Ser) c.80714C>G (p.Thr26905Ser) c.107909C>G (p.Thr35970Ser) c.102986C>G (p.Thr34329Ser) n.446+3443G>C n.219+3443G>C c.107006C>G (p.Thr35669Ser) c.80900C>G (p.Thr26967Ser) c.80759C>G (p.Thr26920Ser) c.106802C>G (p.Thr35601Ser) c.102200C>G (p.Thr34067Ser) c.102197C>G (p.Thr34066Ser) c.99239C>G (p.Thr33080Ser) c.80855C>G (p.Thr26952Ser) c.102350C>G (p.Thr34117Ser) c.102347C>G (p.Thr34116Ser) c.101780C>G (p.Thr33927Ser) c.99122C>G (p.Thr33041Ser) c.99041C>G (p.Thr33014Ser) c.80804C>G (p.Thr26935Ser) c.70658C>G (p.Thr23553Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527079G= | CA1310514289 | TTN,TTN-AS1 | c.100205C= (p.Thr33402=) c.81290C= (p.Thr27097=) c.81089C= (p.Thr27030=) c.80714C= (p.Thr26905=) c.107909C= (p.Thr35970=) c.102986C= (p.Thr34329=) n.446+3443G= n.219+3443G= c.107006C= (p.Thr35669=) c.80900C= (p.Thr26967=) c.80759C= (p.Thr26920=) c.106802C= (p.Thr35601=) c.102200C= (p.Thr34067=) c.102197C= (p.Thr34066=) c.99239C= (p.Thr33080=) c.80855C= (p.Thr26952=) c.102350C= (p.Thr34117=) c.102347C= (p.Thr34116=) c.101780C= (p.Thr33927=) c.99122C= (p.Thr33041=) c.99041C= (p.Thr33014=) c.80804C= (p.Thr26935=) c.70658C= (p.Thr23553=) | |
2 | g.178527079G>T | CA1984857 | TTN,TTN-AS1 | c.100205C>A (p.Thr33402Asn) c.81290C>A (p.Thr27097Asn) c.81089C>A (p.Thr27030Asn) c.80714C>A (p.Thr26905Asn) c.107909C>A (p.Thr35970Asn) c.102986C>A (p.Thr34329Asn) n.446+3443G>T n.219+3443G>T c.107006C>A (p.Thr35669Asn) c.80900C>A (p.Thr26967Asn) c.80759C>A (p.Thr26920Asn) c.106802C>A (p.Thr35601Asn) c.102200C>A (p.Thr34067Asn) c.102197C>A (p.Thr34066Asn) c.99239C>A (p.Thr33080Asn) c.80855C>A (p.Thr26952Asn) c.102350C>A (p.Thr34117Asn) c.102347C>A (p.Thr34116Asn) c.101780C>A (p.Thr33927Asn) c.99122C>A (p.Thr33041Asn) c.99041C>A (p.Thr33014Asn) c.80804C>A (p.Thr26935Asn) c.70658C>A (p.Thr23553Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527080T>A | CA349398376 | TTN,TTN-AS1 | c.100204A>T (p.Thr33402Ser) c.81289A>T (p.Thr27097Ser) c.81088A>T (p.Thr27030Ser) c.80713A>T (p.Thr26905Ser) c.107908A>T (p.Thr35970Ser) c.102985A>T (p.Thr34329Ser) n.446+3444T>A n.219+3444T>A c.107005A>T (p.Thr35669Ser) c.80899A>T (p.Thr26967Ser) c.80758A>T (p.Thr26920Ser) c.106801A>T (p.Thr35601Ser) c.102199A>T (p.Thr34067Ser) c.102196A>T (p.Thr34066Ser) c.99238A>T (p.Thr33080Ser) c.80854A>T (p.Thr26952Ser) c.102349A>T (p.Thr34117Ser) c.102346A>T (p.Thr34116Ser) c.101779A>T (p.Thr33927Ser) c.99121A>T (p.Thr33041Ser) c.99040A>T (p.Thr33014Ser) c.80803A>T (p.Thr26935Ser) c.70657A>T (p.Thr23553Ser) | |
2 | g.178527080T>C | CA349398378 | TTN,TTN-AS1 | c.100204A>G (p.Thr33402Ala) c.81289A>G (p.Thr27097Ala) c.81088A>G (p.Thr27030Ala) c.80713A>G (p.Thr26905Ala) c.107908A>G (p.Thr35970Ala) c.102985A>G (p.Thr34329Ala) n.446+3444T>C n.219+3444T>C c.107005A>G (p.Thr35669Ala) c.80899A>G (p.Thr26967Ala) c.80758A>G (p.Thr26920Ala) c.106801A>G (p.Thr35601Ala) c.102199A>G (p.Thr34067Ala) c.102196A>G (p.Thr34066Ala) c.99238A>G (p.Thr33080Ala) c.80854A>G (p.Thr26952Ala) c.102349A>G (p.Thr34117Ala) c.102346A>G (p.Thr34116Ala) c.101779A>G (p.Thr33927Ala) c.99121A>G (p.Thr33041Ala) c.99040A>G (p.Thr33014Ala) c.80803A>G (p.Thr26935Ala) c.70657A>G (p.Thr23553Ala) | |
2 | g.178527080T>G | CA349398381 | TTN,TTN-AS1 | c.100204A>C (p.Thr33402Pro) c.81289A>C (p.Thr27097Pro) c.81088A>C (p.Thr27030Pro) c.80713A>C (p.Thr26905Pro) c.107908A>C (p.Thr35970Pro) c.102985A>C (p.Thr34329Pro) n.446+3444T>G n.219+3444T>G c.107005A>C (p.Thr35669Pro) c.80899A>C (p.Thr26967Pro) c.80758A>C (p.Thr26920Pro) c.106801A>C (p.Thr35601Pro) c.102199A>C (p.Thr34067Pro) c.102196A>C (p.Thr34066Pro) c.99238A>C (p.Thr33080Pro) c.80854A>C (p.Thr26952Pro) c.102349A>C (p.Thr34117Pro) c.102346A>C (p.Thr34116Pro) c.101779A>C (p.Thr33927Pro) c.99121A>C (p.Thr33041Pro) c.99040A>C (p.Thr33014Pro) c.80803A>C (p.Thr26935Pro) c.70657A>C (p.Thr23553Pro) | |
2 | g.178527081A= | CA1310514290 | TTN,TTN-AS1 | c.100203T= (p.Tyr33401=) c.81288T= (p.Tyr27096=) c.81087T= (p.Tyr27029=) c.80712T= (p.Tyr26904=) c.107907T= (p.Tyr35969=) c.102984T= (p.Tyr34328=) n.446+3445A= n.219+3445A= c.107004T= (p.Tyr35668=) c.80898T= (p.Tyr26966=) c.80757T= (p.Tyr26919=) c.106800T= (p.Tyr35600=) c.102198T= (p.Tyr34066=) c.102195T= (p.Tyr34065=) c.99237T= (p.Tyr33079=) c.80853T= (p.Tyr26951=) c.102348T= (p.Tyr34116=) c.102345T= (p.Tyr34115=) c.101778T= (p.Tyr33926=) c.99120T= (p.Tyr33040=) c.99039T= (p.Tyr33013=) c.80802T= (p.Tyr26934=) c.70656T= (p.Tyr23552=) | |
2 | g.178527081A>C | CA349398384 | TTN,TTN-AS1 | c.100203T>G (p.Tyr33401Ter) c.81288T>G (p.Tyr27096Ter) c.81087T>G (p.Tyr27029Ter) c.80712T>G (p.Tyr26904Ter) c.107907T>G (p.Tyr35969Ter) c.102984T>G (p.Tyr34328Ter) n.446+3445A>C n.219+3445A>C c.107004T>G (p.Tyr35668Ter) c.80898T>G (p.Tyr26966Ter) c.80757T>G (p.Tyr26919Ter) c.106800T>G (p.Tyr35600Ter) c.102198T>G (p.Tyr34066Ter) c.102195T>G (p.Tyr34065Ter) c.99237T>G (p.Tyr33079Ter) c.80853T>G (p.Tyr26951Ter) c.102348T>G (p.Tyr34116Ter) c.102345T>G (p.Tyr34115Ter) c.101778T>G (p.Tyr33926Ter) c.99120T>G (p.Tyr33040Ter) c.99039T>G (p.Tyr33013Ter) c.80802T>G (p.Tyr26934Ter) c.70656T>G (p.Tyr23552Ter) | |
2 | g.178527081A>G | CA430091583 | TTN,TTN-AS1 | c.100203T>C (p.Tyr33401=) c.81288T>C (p.Tyr27096=) c.81087T>C (p.Tyr27029=) c.80712T>C (p.Tyr26904=) c.107907T>C (p.Tyr35969=) c.102984T>C (p.Tyr34328=) n.446+3445A>G n.219+3445A>G c.107004T>C (p.Tyr35668=) c.80898T>C (p.Tyr26966=) c.80757T>C (p.Tyr26919=) c.106800T>C (p.Tyr35600=) c.102198T>C (p.Tyr34066=) c.102195T>C (p.Tyr34065=) c.99237T>C (p.Tyr33079=) c.80853T>C (p.Tyr26951=) c.102348T>C (p.Tyr34116=) c.102345T>C (p.Tyr34115=) c.101778T>C (p.Tyr33926=) c.99120T>C (p.Tyr33040=) c.99039T>C (p.Tyr33013=) c.80802T>C (p.Tyr26934=) c.70656T>C (p.Tyr23552=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527081A>T | CA349398386 | TTN,TTN-AS1 | c.100203T>A (p.Tyr33401Ter) c.81288T>A (p.Tyr27096Ter) c.81087T>A (p.Tyr27029Ter) c.80712T>A (p.Tyr26904Ter) c.107907T>A (p.Tyr35969Ter) c.102984T>A (p.Tyr34328Ter) n.446+3445A>T n.219+3445A>T c.107004T>A (p.Tyr35668Ter) c.80898T>A (p.Tyr26966Ter) c.80757T>A (p.Tyr26919Ter) c.106800T>A (p.Tyr35600Ter) c.102198T>A (p.Tyr34066Ter) c.102195T>A (p.Tyr34065Ter) c.99237T>A (p.Tyr33079Ter) c.80853T>A (p.Tyr26951Ter) c.102348T>A (p.Tyr34116Ter) c.102345T>A (p.Tyr34115Ter) c.101778T>A (p.Tyr33926Ter) c.99120T>A (p.Tyr33040Ter) c.99039T>A (p.Tyr33013Ter) c.80802T>A (p.Tyr26934Ter) c.70656T>A (p.Tyr23552Ter) | |
2 | g.178527082T>A | CA349398394 | TTN,TTN-AS1 | c.100202A>T (p.Tyr33401Phe) c.81287A>T (p.Tyr27096Phe) c.81086A>T (p.Tyr27029Phe) c.80711A>T (p.Tyr26904Phe) c.107906A>T (p.Tyr35969Phe) c.102983A>T (p.Tyr34328Phe) n.446+3446T>A n.219+3446T>A c.107003A>T (p.Tyr35668Phe) c.80897A>T (p.Tyr26966Phe) c.80756A>T (p.Tyr26919Phe) c.106799A>T (p.Tyr35600Phe) c.102197A>T (p.Tyr34066Phe) c.102194A>T (p.Tyr34065Phe) c.99236A>T (p.Tyr33079Phe) c.80852A>T (p.Tyr26951Phe) c.102347A>T (p.Tyr34116Phe) c.102344A>T (p.Tyr34115Phe) c.101777A>T (p.Tyr33926Phe) c.99119A>T (p.Tyr33040Phe) c.99038A>T (p.Tyr33013Phe) c.80801A>T (p.Tyr26934Phe) c.70655A>T (p.Tyr23552Phe) | |
2 | g.178527082T>C | CA349398390 | TTN,TTN-AS1 | c.100202A>G (p.Tyr33401Cys) c.81287A>G (p.Tyr27096Cys) c.81086A>G (p.Tyr27029Cys) c.80711A>G (p.Tyr26904Cys) c.107906A>G (p.Tyr35969Cys) c.102983A>G (p.Tyr34328Cys) n.446+3446T>C n.219+3446T>C c.107003A>G (p.Tyr35668Cys) c.80897A>G (p.Tyr26966Cys) c.80756A>G (p.Tyr26919Cys) c.106799A>G (p.Tyr35600Cys) c.102197A>G (p.Tyr34066Cys) c.102194A>G (p.Tyr34065Cys) c.99236A>G (p.Tyr33079Cys) c.80852A>G (p.Tyr26951Cys) c.102347A>G (p.Tyr34116Cys) c.102344A>G (p.Tyr34115Cys) c.101777A>G (p.Tyr33926Cys) c.99119A>G (p.Tyr33040Cys) c.99038A>G (p.Tyr33013Cys) c.80801A>G (p.Tyr26934Cys) c.70655A>G (p.Tyr23552Cys) | |
2 | g.178527082T>G | CA349398391 | TTN,TTN-AS1 | c.100202A>C (p.Tyr33401Ser) c.81287A>C (p.Tyr27096Ser) c.81086A>C (p.Tyr27029Ser) c.80711A>C (p.Tyr26904Ser) c.107906A>C (p.Tyr35969Ser) c.102983A>C (p.Tyr34328Ser) n.446+3446T>G n.219+3446T>G c.107003A>C (p.Tyr35668Ser) c.80897A>C (p.Tyr26966Ser) c.80756A>C (p.Tyr26919Ser) c.106799A>C (p.Tyr35600Ser) c.102197A>C (p.Tyr34066Ser) c.102194A>C (p.Tyr34065Ser) c.99236A>C (p.Tyr33079Ser) c.80852A>C (p.Tyr26951Ser) c.102347A>C (p.Tyr34116Ser) c.102344A>C (p.Tyr34115Ser) c.101777A>C (p.Tyr33926Ser) c.99119A>C (p.Tyr33040Ser) c.99038A>C (p.Tyr33013Ser) c.80801A>C (p.Tyr26934Ser) c.70655A>C (p.Tyr23552Ser) | |
2 | g.178527083A>C | CA349398397 | TTN,TTN-AS1 | c.100201T>G (p.Tyr33401Asp) c.81286T>G (p.Tyr27096Asp) c.81085T>G (p.Tyr27029Asp) c.80710T>G (p.Tyr26904Asp) c.107905T>G (p.Tyr35969Asp) c.102982T>G (p.Tyr34328Asp) n.446+3447A>C n.219+3447A>C c.107002T>G (p.Tyr35668Asp) c.80896T>G (p.Tyr26966Asp) c.80755T>G (p.Tyr26919Asp) c.106798T>G (p.Tyr35600Asp) c.102196T>G (p.Tyr34066Asp) c.102193T>G (p.Tyr34065Asp) c.99235T>G (p.Tyr33079Asp) c.80851T>G (p.Tyr26951Asp) c.102346T>G (p.Tyr34116Asp) c.102343T>G (p.Tyr34115Asp) c.101776T>G (p.Tyr33926Asp) c.99118T>G (p.Tyr33040Asp) c.99037T>G (p.Tyr33013Asp) c.80800T>G (p.Tyr26934Asp) c.70654T>G (p.Tyr23552Asp) | |
2 | g.178527083A>G | CA349398402 | TTN,TTN-AS1 | c.100201T>C (p.Tyr33401His) c.81286T>C (p.Tyr27096His) c.81085T>C (p.Tyr27029His) c.80710T>C (p.Tyr26904His) c.107905T>C (p.Tyr35969His) c.102982T>C (p.Tyr34328His) n.446+3447A>G n.219+3447A>G c.107002T>C (p.Tyr35668His) c.80896T>C (p.Tyr26966His) c.80755T>C (p.Tyr26919His) c.106798T>C (p.Tyr35600His) c.102196T>C (p.Tyr34066His) c.102193T>C (p.Tyr34065His) c.99235T>C (p.Tyr33079His) c.80851T>C (p.Tyr26951His) c.102346T>C (p.Tyr34116His) c.102343T>C (p.Tyr34115His) c.101776T>C (p.Tyr33926His) c.99118T>C (p.Tyr33040His) c.99037T>C (p.Tyr33013His) c.80800T>C (p.Tyr26934His) c.70654T>C (p.Tyr23552His) | |
2 | g.178527083A>T | CA349398403 | TTN,TTN-AS1 | c.100201T>A (p.Tyr33401Asn) c.81286T>A (p.Tyr27096Asn) c.81085T>A (p.Tyr27029Asn) c.80710T>A (p.Tyr26904Asn) c.107905T>A (p.Tyr35969Asn) c.102982T>A (p.Tyr34328Asn) n.446+3447A>T n.219+3447A>T c.107002T>A (p.Tyr35668Asn) c.80896T>A (p.Tyr26966Asn) c.80755T>A (p.Tyr26919Asn) c.106798T>A (p.Tyr35600Asn) c.102196T>A (p.Tyr34066Asn) c.102193T>A (p.Tyr34065Asn) c.99235T>A (p.Tyr33079Asn) c.80851T>A (p.Tyr26951Asn) c.102346T>A (p.Tyr34116Asn) c.102343T>A (p.Tyr34115Asn) c.101776T>A (p.Tyr33926Asn) c.99118T>A (p.Tyr33040Asn) c.99037T>A (p.Tyr33013Asn) c.80800T>A (p.Tyr26934Asn) c.70654T>A (p.Tyr23552Asn) | |
2 | g.178527084A>C | CA430091597 | TTN,TTN-AS1 | c.100200T>G (p.Leu33400=) c.81285T>G (p.Leu27095=) c.81084T>G (p.Leu27028=) c.80709T>G (p.Leu26903=) c.107904T>G (p.Leu35968=) c.102981T>G (p.Leu34327=) n.446+3448A>C n.219+3448A>C c.107001T>G (p.Leu35667=) c.80895T>G (p.Leu26965=) c.80754T>G (p.Leu26918=) c.106797T>G (p.Leu35599=) c.102195T>G (p.Leu34065=) c.102192T>G (p.Leu34064=) c.99234T>G (p.Leu33078=) c.80850T>G (p.Leu26950=) c.102345T>G (p.Leu34115=) c.102342T>G (p.Leu34114=) c.101775T>G (p.Leu33925=) c.99117T>G (p.Leu33039=) c.99036T>G (p.Leu33012=) c.80799T>G (p.Leu26933=) c.70653T>G (p.Leu23551=) | dbSNP |
2 | g.178527084A>G | CA430091599 | TTN,TTN-AS1 | c.100200T>C (p.Leu33400=) c.81285T>C (p.Leu27095=) c.81084T>C (p.Leu27028=) c.80709T>C (p.Leu26903=) c.107904T>C (p.Leu35968=) c.102981T>C (p.Leu34327=) n.446+3448A>G n.219+3448A>G c.107001T>C (p.Leu35667=) c.80895T>C (p.Leu26965=) c.80754T>C (p.Leu26918=) c.106797T>C (p.Leu35599=) c.102195T>C (p.Leu34065=) c.102192T>C (p.Leu34064=) c.99234T>C (p.Leu33078=) c.80850T>C (p.Leu26950=) c.102345T>C (p.Leu34115=) c.102342T>C (p.Leu34114=) c.101775T>C (p.Leu33925=) c.99117T>C (p.Leu33039=) c.99036T>C (p.Leu33012=) c.80799T>C (p.Leu26933=) c.70653T>C (p.Leu23551=) | |
2 | g.178527084A>T | CA430091601 | TTN,TTN-AS1 | c.100200T>A (p.Leu33400=) c.81285T>A (p.Leu27095=) c.81084T>A (p.Leu27028=) c.80709T>A (p.Leu26903=) c.107904T>A (p.Leu35968=) c.102981T>A (p.Leu34327=) n.446+3448A>T n.219+3448A>T c.107001T>A (p.Leu35667=) c.80895T>A (p.Leu26965=) c.80754T>A (p.Leu26918=) c.106797T>A (p.Leu35599=) c.102195T>A (p.Leu34065=) c.102192T>A (p.Leu34064=) c.99234T>A (p.Leu33078=) c.80850T>A (p.Leu26950=) c.102345T>A (p.Leu34115=) c.102342T>A (p.Leu34114=) c.101775T>A (p.Leu33925=) c.99117T>A (p.Leu33039=) c.99036T>A (p.Leu33012=) c.80799T>A (p.Leu26933=) c.70653T>A (p.Leu23551=) | |
2 | g.178527085A= | CA1310514291 | TTN,TTN-AS1 | c.100199T= (p.Leu33400=) c.81284T= (p.Leu27095=) c.81083T= (p.Leu27028=) c.80708T= (p.Leu26903=) c.107903T= (p.Leu35968=) c.102980T= (p.Leu34327=) n.446+3449A= n.219+3449A= c.107000T= (p.Leu35667=) c.80894T= (p.Leu26965=) c.80753T= (p.Leu26918=) c.106796T= (p.Leu35599=) c.102194T= (p.Leu34065=) c.102191T= (p.Leu34064=) c.99233T= (p.Leu33078=) c.80849T= (p.Leu26950=) c.102344T= (p.Leu34115=) c.102341T= (p.Leu34114=) c.101774T= (p.Leu33925=) c.99116T= (p.Leu33039=) c.99035T= (p.Leu33012=) c.80798T= (p.Leu26933=) c.70652T= (p.Leu23551=) | |
2 | g.178527085A>C | CA349398404 | TTN,TTN-AS1 | c.100199T>G (p.Leu33400Arg) c.81284T>G (p.Leu27095Arg) c.81083T>G (p.Leu27028Arg) c.80708T>G (p.Leu26903Arg) c.107903T>G (p.Leu35968Arg) c.102980T>G (p.Leu34327Arg) n.446+3449A>C n.219+3449A>C c.107000T>G (p.Leu35667Arg) c.80894T>G (p.Leu26965Arg) c.80753T>G (p.Leu26918Arg) c.106796T>G (p.Leu35599Arg) c.102194T>G (p.Leu34065Arg) c.102191T>G (p.Leu34064Arg) c.99233T>G (p.Leu33078Arg) c.80849T>G (p.Leu26950Arg) c.102344T>G (p.Leu34115Arg) c.102341T>G (p.Leu34114Arg) c.101774T>G (p.Leu33925Arg) c.99116T>G (p.Leu33039Arg) c.99035T>G (p.Leu33012Arg) c.80798T>G (p.Leu26933Arg) c.70652T>G (p.Leu23551Arg) | ClinVar dbSNP |
2 | g.178527085A>G | CA349398405 | TTN,TTN-AS1 | c.100199T>C (p.Leu33400Pro) c.81284T>C (p.Leu27095Pro) c.81083T>C (p.Leu27028Pro) c.80708T>C (p.Leu26903Pro) c.107903T>C (p.Leu35968Pro) c.102980T>C (p.Leu34327Pro) n.446+3449A>G n.219+3449A>G c.107000T>C (p.Leu35667Pro) c.80894T>C (p.Leu26965Pro) c.80753T>C (p.Leu26918Pro) c.106796T>C (p.Leu35599Pro) c.102194T>C (p.Leu34065Pro) c.102191T>C (p.Leu34064Pro) c.99233T>C (p.Leu33078Pro) c.80849T>C (p.Leu26950Pro) c.102344T>C (p.Leu34115Pro) c.102341T>C (p.Leu34114Pro) c.101774T>C (p.Leu33925Pro) c.99116T>C (p.Leu33039Pro) c.99035T>C (p.Leu33012Pro) c.80798T>C (p.Leu26933Pro) c.70652T>C (p.Leu23551Pro) | ClinVar dbSNP |
2 | g.178527085A>T | CA349398406 | TTN,TTN-AS1 | c.100199T>A (p.Leu33400His) c.81284T>A (p.Leu27095His) c.81083T>A (p.Leu27028His) c.80708T>A (p.Leu26903His) c.107903T>A (p.Leu35968His) c.102980T>A (p.Leu34327His) n.446+3449A>T n.219+3449A>T c.107000T>A (p.Leu35667His) c.80894T>A (p.Leu26965His) c.80753T>A (p.Leu26918His) c.106796T>A (p.Leu35599His) c.102194T>A (p.Leu34065His) c.102191T>A (p.Leu34064His) c.99233T>A (p.Leu33078His) c.80849T>A (p.Leu26950His) c.102344T>A (p.Leu34115His) c.102341T>A (p.Leu34114His) c.101774T>A (p.Leu33925His) c.99116T>A (p.Leu33039His) c.99035T>A (p.Leu33012His) c.80798T>A (p.Leu26933His) c.70652T>A (p.Leu23551His) | |
2 | g.178527086G>A | CA349398407 | TTN,TTN-AS1 | c.100198C>T (p.Leu33400Phe) c.81283C>T (p.Leu27095Phe) c.81082C>T (p.Leu27028Phe) c.80707C>T (p.Leu26903Phe) c.107902C>T (p.Leu35968Phe) c.102979C>T (p.Leu34327Phe) n.446+3450G>A n.219+3450G>A c.106999C>T (p.Leu35667Phe) c.80893C>T (p.Leu26965Phe) c.80752C>T (p.Leu26918Phe) c.106795C>T (p.Leu35599Phe) c.102193C>T (p.Leu34065Phe) c.102190C>T (p.Leu34064Phe) c.99232C>T (p.Leu33078Phe) c.80848C>T (p.Leu26950Phe) c.102343C>T (p.Leu34115Phe) c.102340C>T (p.Leu34114Phe) c.101773C>T (p.Leu33925Phe) c.99115C>T (p.Leu33039Phe) c.99034C>T (p.Leu33012Phe) c.80797C>T (p.Leu26933Phe) c.70651C>T (p.Leu23551Phe) | dbSNP |
2 | g.178527086G>C | CA349398408 | TTN,TTN-AS1 | c.100198C>G (p.Leu33400Val) c.81283C>G (p.Leu27095Val) c.81082C>G (p.Leu27028Val) c.80707C>G (p.Leu26903Val) c.107902C>G (p.Leu35968Val) c.102979C>G (p.Leu34327Val) n.446+3450G>C n.219+3450G>C c.106999C>G (p.Leu35667Val) c.80893C>G (p.Leu26965Val) c.80752C>G (p.Leu26918Val) c.106795C>G (p.Leu35599Val) c.102193C>G (p.Leu34065Val) c.102190C>G (p.Leu34064Val) c.99232C>G (p.Leu33078Val) c.80848C>G (p.Leu26950Val) c.102343C>G (p.Leu34115Val) c.102340C>G (p.Leu34114Val) c.101773C>G (p.Leu33925Val) c.99115C>G (p.Leu33039Val) c.99034C>G (p.Leu33012Val) c.80797C>G (p.Leu26933Val) c.70651C>G (p.Leu23551Val) | |
2 | g.178527086G= | CA1310514292 | TTN,TTN-AS1 | c.100198C= (p.Leu33400=) c.81283C= (p.Leu27095=) c.81082C= (p.Leu27028=) c.80707C= (p.Leu26903=) c.107902C= (p.Leu35968=) c.102979C= (p.Leu34327=) n.446+3450G= n.219+3450G= c.106999C= (p.Leu35667=) c.80893C= (p.Leu26965=) c.80752C= (p.Leu26918=) c.106795C= (p.Leu35599=) c.102193C= (p.Leu34065=) c.102190C= (p.Leu34064=) c.99232C= (p.Leu33078=) c.80848C= (p.Leu26950=) c.102343C= (p.Leu34115=) c.102340C= (p.Leu34114=) c.101773C= (p.Leu33925=) c.99115C= (p.Leu33039=) c.99034C= (p.Leu33012=) c.80797C= (p.Leu26933=) c.70651C= (p.Leu23551=) | |
2 | g.178527086G>T | CA349398409 | TTN,TTN-AS1 | c.100198C>A (p.Leu33400Ile) c.81283C>A (p.Leu27095Ile) c.81082C>A (p.Leu27028Ile) c.80707C>A (p.Leu26903Ile) c.107902C>A (p.Leu35968Ile) c.102979C>A (p.Leu34327Ile) n.446+3450G>T n.219+3450G>T c.106999C>A (p.Leu35667Ile) c.80893C>A (p.Leu26965Ile) c.80752C>A (p.Leu26918Ile) c.106795C>A (p.Leu35599Ile) c.102193C>A (p.Leu34065Ile) c.102190C>A (p.Leu34064Ile) c.99232C>A (p.Leu33078Ile) c.80848C>A (p.Leu26950Ile) c.102343C>A (p.Leu34115Ile) c.102340C>A (p.Leu34114Ile) c.101773C>A (p.Leu33925Ile) c.99115C>A (p.Leu33039Ile) c.99034C>A (p.Leu33012Ile) c.80797C>A (p.Leu26933Ile) c.70651C>A (p.Leu23551Ile) | |
2 | g.178527087T>A | CA1984859 | TTN,TTN-AS1 | c.100197A>T (p.Gly33399=) c.81282A>T (p.Gly27094=) c.81081A>T (p.Gly27027=) c.80706A>T (p.Gly26902=) c.107901A>T (p.Gly35967=) c.102978A>T (p.Gly34326=) n.446+3451T>A n.219+3451T>A c.106998A>T (p.Gly35666=) c.80892A>T (p.Gly26964=) c.80751A>T (p.Gly26917=) c.106794A>T (p.Gly35598=) c.102192A>T (p.Gly34064=) c.102189A>T (p.Gly34063=) c.99231A>T (p.Gly33077=) c.80847A>T (p.Gly26949=) c.102342A>T (p.Gly34114=) c.102339A>T (p.Gly34113=) c.101772A>T (p.Gly33924=) c.99114A>T (p.Gly33038=) c.99033A>T (p.Gly33011=) c.80796A>T (p.Gly26932=) c.70650A>T (p.Gly23550=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527087T>C | CA430091612 | TTN,TTN-AS1 | c.100197A>G (p.Gly33399=) c.81282A>G (p.Gly27094=) c.81081A>G (p.Gly27027=) c.80706A>G (p.Gly26902=) c.107901A>G (p.Gly35967=) c.102978A>G (p.Gly34326=) n.446+3451T>C n.219+3451T>C c.106998A>G (p.Gly35666=) c.80892A>G (p.Gly26964=) c.80751A>G (p.Gly26917=) c.106794A>G (p.Gly35598=) c.102192A>G (p.Gly34064=) c.102189A>G (p.Gly34063=) c.99231A>G (p.Gly33077=) c.80847A>G (p.Gly26949=) c.102342A>G (p.Gly34114=) c.102339A>G (p.Gly34113=) c.101772A>G (p.Gly33924=) c.99114A>G (p.Gly33038=) c.99033A>G (p.Gly33011=) c.80796A>G (p.Gly26932=) c.70650A>G (p.Gly23550=) | dbSNP |
2 | g.178527087T>G | CA430091609 | TTN,TTN-AS1 | c.100197A>C (p.Gly33399=) c.81282A>C (p.Gly27094=) c.81081A>C (p.Gly27027=) c.80706A>C (p.Gly26902=) c.107901A>C (p.Gly35967=) c.102978A>C (p.Gly34326=) n.446+3451T>G n.219+3451T>G c.106998A>C (p.Gly35666=) c.80892A>C (p.Gly26964=) c.80751A>C (p.Gly26917=) c.106794A>C (p.Gly35598=) c.102192A>C (p.Gly34064=) c.102189A>C (p.Gly34063=) c.99231A>C (p.Gly33077=) c.80847A>C (p.Gly26949=) c.102342A>C (p.Gly34114=) c.102339A>C (p.Gly34113=) c.101772A>C (p.Gly33924=) c.99114A>C (p.Gly33038=) c.99033A>C (p.Gly33011=) c.80796A>C (p.Gly26932=) c.70650A>C (p.Gly23550=) | |
2 | g.178527087T= | CA1310514293 | TTN,TTN-AS1 | c.100197A= (p.Gly33399=) c.81282A= (p.Gly27094=) c.81081A= (p.Gly27027=) c.80706A= (p.Gly26902=) c.107901A= (p.Gly35967=) c.102978A= (p.Gly34326=) n.446+3451T= n.219+3451T= c.106998A= (p.Gly35666=) c.80892A= (p.Gly26964=) c.80751A= (p.Gly26917=) c.106794A= (p.Gly35598=) c.102192A= (p.Gly34064=) c.102189A= (p.Gly34063=) c.99231A= (p.Gly33077=) c.80847A= (p.Gly26949=) c.102342A= (p.Gly34114=) c.102339A= (p.Gly34113=) c.101772A= (p.Gly33924=) c.99114A= (p.Gly33038=) c.99033A= (p.Gly33011=) c.80796A= (p.Gly26932=) c.70650A= (p.Gly23550=) | |
2 | g.178527087_178527088insTTTGTACCATTTATTTTATGA | CA538089829 | TTN,TTN-AS1 | c.100196_100197insTCATAAAATAAATGGTACAAA (p.Gly33399_Leu33400insHisLysIleAsnGlyThrLys) c.81281_81282insTCATAAAATAAATGGTACAAA (p.Gly27094_Leu27095insHisLysIleAsnGlyThrLys) c.81080_81081insTCATAAAATAAATGGTACAAA (p.Gly27027_Leu27028insHisLysIleAsnGlyThrLys) c.80705_80706insTCATAAAATAAATGGTACAAA (p.Gly26902_Leu26903insHisLysIleAsnGlyThrLys) c.107900_107901insTCATAAAATAAATGGTACAAA (p.Gly35967_Leu35968insHisLysIleAsnGlyThrLys) c.102977_102978insTCATAAAATAAATGGTACAAA (p.Gly34326_Leu34327insHisLysIleAsnGlyThrLys) n.446+3451_446+3452insTTTGTACCATTTATTTTATGA n.219+3451_219+3452insTTTGTACCATTTATTTTATGA c.106997_106998insTCATAAAATAAATGGTACAAA (p.Gly35666_Leu35667insHisLysIleAsnGlyThrLys) c.80891_80892insTCATAAAATAAATGGTACAAA (p.Gly26964_Leu26965insHisLysIleAsnGlyThrLys) c.80750_80751insTCATAAAATAAATGGTACAAA (p.Gly26917_Leu26918insHisLysIleAsnGlyThrLys) c.106793_106794insTCATAAAATAAATGGTACAAA (p.Gly35598_Leu35599insHisLysIleAsnGlyThrLys) c.102191_102192insTCATAAAATAAATGGTACAAA (p.Gly34064_Leu34065insHisLysIleAsnGlyThrLys) c.102188_102189insTCATAAAATAAATGGTACAAA (p.Gly34063_Leu34064insHisLysIleAsnGlyThrLys) c.99230_99231insTCATAAAATAAATGGTACAAA (p.Gly33077_Leu33078insHisLysIleAsnGlyThrLys) c.80846_80847insTCATAAAATAAATGGTACAAA (p.Gly26949_Leu26950insHisLysIleAsnGlyThrLys) c.102341_102342insTCATAAAATAAATGGTACAAA (p.Gly34114_Leu34115insHisLysIleAsnGlyThrLys) c.102338_102339insTCATAAAATAAATGGTACAAA (p.Gly34113_Leu34114insHisLysIleAsnGlyThrLys) c.101771_101772insTCATAAAATAAATGGTACAAA (p.Gly33924_Leu33925insHisLysIleAsnGlyThrLys) c.99113_99114insTCATAAAATAAATGGTACAAA (p.Gly33038_Leu33039insHisLysIleAsnGlyThrLys) c.99032_99033insTCATAAAATAAATGGTACAAA (p.Gly33011_Leu33012insHisLysIleAsnGlyThrLys) c.80795_80796insTCATAAAATAAATGGTACAAA (p.Gly26932_Leu26933insHisLysIleAsnGlyThrLys) c.70649_70650insTCATAAAATAAATGGTACAAA (p.Gly23550_Leu23551insHisLysIleAsnGlyThrLys) | gnomAD v2 |
2 | g.178527088C>A | CA349398411 | TTN,TTN-AS1 | c.100196G>T (p.Gly33399Val) c.81281G>T (p.Gly27094Val) c.81080G>T (p.Gly27027Val) c.80705G>T (p.Gly26902Val) c.107900G>T (p.Gly35967Val) c.102977G>T (p.Gly34326Val) n.446+3452C>A n.219+3452C>A c.106997G>T (p.Gly35666Val) c.80891G>T (p.Gly26964Val) c.80750G>T (p.Gly26917Val) c.106793G>T (p.Gly35598Val) c.102191G>T (p.Gly34064Val) c.102188G>T (p.Gly34063Val) c.99230G>T (p.Gly33077Val) c.80846G>T (p.Gly26949Val) c.102341G>T (p.Gly34114Val) c.102338G>T (p.Gly34113Val) c.101771G>T (p.Gly33924Val) c.99113G>T (p.Gly33038Val) c.99032G>T (p.Gly33011Val) c.80795G>T (p.Gly26932Val) c.70649G>T (p.Gly23550Val) | |
2 | g.178527088C= | CA1310514294 | TTN,TTN-AS1 | c.100196G= (p.Gly33399=) c.81281G= (p.Gly27094=) c.81080G= (p.Gly27027=) c.80705G= (p.Gly26902=) c.107900G= (p.Gly35967=) c.102977G= (p.Gly34326=) n.446+3452C= n.219+3452C= c.106997G= (p.Gly35666=) c.80891G= (p.Gly26964=) c.80750G= (p.Gly26917=) c.106793G= (p.Gly35598=) c.102191G= (p.Gly34064=) c.102188G= (p.Gly34063=) c.99230G= (p.Gly33077=) c.80846G= (p.Gly26949=) c.102341G= (p.Gly34114=) c.102338G= (p.Gly34113=) c.101771G= (p.Gly33924=) c.99113G= (p.Gly33038=) c.99032G= (p.Gly33011=) c.80795G= (p.Gly26932=) c.70649G= (p.Gly23550=) | |
2 | g.178527088C>G | CA349398414 | TTN,TTN-AS1 | c.100196G>C (p.Gly33399Ala) c.81281G>C (p.Gly27094Ala) c.81080G>C (p.Gly27027Ala) c.80705G>C (p.Gly26902Ala) c.107900G>C (p.Gly35967Ala) c.102977G>C (p.Gly34326Ala) n.446+3452C>G n.219+3452C>G c.106997G>C (p.Gly35666Ala) c.80891G>C (p.Gly26964Ala) c.80750G>C (p.Gly26917Ala) c.106793G>C (p.Gly35598Ala) c.102191G>C (p.Gly34064Ala) c.102188G>C (p.Gly34063Ala) c.99230G>C (p.Gly33077Ala) c.80846G>C (p.Gly26949Ala) c.102341G>C (p.Gly34114Ala) c.102338G>C (p.Gly34113Ala) c.101771G>C (p.Gly33924Ala) c.99113G>C (p.Gly33038Ala) c.99032G>C (p.Gly33011Ala) c.80795G>C (p.Gly26932Ala) c.70649G>C (p.Gly23550Ala) | |
2 | g.178527088C>T | CA1984860 | TTN,TTN-AS1 | c.100196G>A (p.Gly33399Glu) c.81281G>A (p.Gly27094Glu) c.81080G>A (p.Gly27027Glu) c.80705G>A (p.Gly26902Glu) c.107900G>A (p.Gly35967Glu) c.102977G>A (p.Gly34326Glu) n.446+3452C>T n.219+3452C>T c.106997G>A (p.Gly35666Glu) c.80891G>A (p.Gly26964Glu) c.80750G>A (p.Gly26917Glu) c.106793G>A (p.Gly35598Glu) c.102191G>A (p.Gly34064Glu) c.102188G>A (p.Gly34063Glu) c.99230G>A (p.Gly33077Glu) c.80846G>A (p.Gly26949Glu) c.102341G>A (p.Gly34114Glu) c.102338G>A (p.Gly34113Glu) c.101771G>A (p.Gly33924Glu) c.99113G>A (p.Gly33038Glu) c.99032G>A (p.Gly33011Glu) c.80795G>A (p.Gly26932Glu) c.70649G>A (p.Gly23550Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527089C>A | CA349398422 | TTN,TTN-AS1 | c.100195G>T (p.Gly33399Ter) c.81280G>T (p.Gly27094Ter) c.81079G>T (p.Gly27027Ter) c.80704G>T (p.Gly26902Ter) c.107899G>T (p.Gly35967Ter) c.102976G>T (p.Gly34326Ter) n.446+3453C>A n.219+3453C>A c.106996G>T (p.Gly35666Ter) c.80890G>T (p.Gly26964Ter) c.80749G>T (p.Gly26917Ter) c.106792G>T (p.Gly35598Ter) c.102190G>T (p.Gly34064Ter) c.102187G>T (p.Gly34063Ter) c.99229G>T (p.Gly33077Ter) c.80845G>T (p.Gly26949Ter) c.102340G>T (p.Gly34114Ter) c.102337G>T (p.Gly34113Ter) c.101770G>T (p.Gly33924Ter) c.99112G>T (p.Gly33038Ter) c.99031G>T (p.Gly33011Ter) c.80794G>T (p.Gly26932Ter) c.70648G>T (p.Gly23550Ter) | |
2 | g.178527089C>G | CA349398417 | TTN,TTN-AS1 | c.100195G>C (p.Gly33399Arg) c.81280G>C (p.Gly27094Arg) c.81079G>C (p.Gly27027Arg) c.80704G>C (p.Gly26902Arg) c.107899G>C (p.Gly35967Arg) c.102976G>C (p.Gly34326Arg) n.446+3453C>G n.219+3453C>G c.106996G>C (p.Gly35666Arg) c.80890G>C (p.Gly26964Arg) c.80749G>C (p.Gly26917Arg) c.106792G>C (p.Gly35598Arg) c.102190G>C (p.Gly34064Arg) c.102187G>C (p.Gly34063Arg) c.99229G>C (p.Gly33077Arg) c.80845G>C (p.Gly26949Arg) c.102340G>C (p.Gly34114Arg) c.102337G>C (p.Gly34113Arg) c.101770G>C (p.Gly33924Arg) c.99112G>C (p.Gly33038Arg) c.99031G>C (p.Gly33011Arg) c.80794G>C (p.Gly26932Arg) c.70648G>C (p.Gly23550Arg) | |
2 | g.178527089C>T | CA349398419 | TTN,TTN-AS1 | c.100195G>A (p.Gly33399Arg) c.81280G>A (p.Gly27094Arg) c.81079G>A (p.Gly27027Arg) c.80704G>A (p.Gly26902Arg) c.107899G>A (p.Gly35967Arg) c.102976G>A (p.Gly34326Arg) n.446+3453C>T n.219+3453C>T c.106996G>A (p.Gly35666Arg) c.80890G>A (p.Gly26964Arg) c.80749G>A (p.Gly26917Arg) c.106792G>A (p.Gly35598Arg) c.102190G>A (p.Gly34064Arg) c.102187G>A (p.Gly34063Arg) c.99229G>A (p.Gly33077Arg) c.80845G>A (p.Gly26949Arg) c.102340G>A (p.Gly34114Arg) c.102337G>A (p.Gly34113Arg) c.101770G>A (p.Gly33924Arg) c.99112G>A (p.Gly33038Arg) c.99031G>A (p.Gly33011Arg) c.80794G>A (p.Gly26932Arg) c.70648G>A (p.Gly23550Arg) | gnomAD v4 |
2 | g.178527090A>C | CA430091622 | TTN,TTN-AS1 | c.100194T>G (p.Gly33398=) c.81279T>G (p.Gly27093=) c.81078T>G (p.Gly27026=) c.80703T>G (p.Gly26901=) c.107898T>G (p.Gly35966=) c.102975T>G (p.Gly34325=) n.446+3454A>C n.219+3454A>C c.106995T>G (p.Gly35665=) c.80889T>G (p.Gly26963=) c.80748T>G (p.Gly26916=) c.106791T>G (p.Gly35597=) c.102189T>G (p.Gly34063=) c.102186T>G (p.Gly34062=) c.99228T>G (p.Gly33076=) c.80844T>G (p.Gly26948=) c.102339T>G (p.Gly34113=) c.102336T>G (p.Gly34112=) c.101769T>G (p.Gly33923=) c.99111T>G (p.Gly33037=) c.99030T>G (p.Gly33010=) c.80793T>G (p.Gly26931=) c.70647T>G (p.Gly23549=) | |
2 | g.178527090A>G | CA430091625 | TTN,TTN-AS1 | c.100194T>C (p.Gly33398=) c.81279T>C (p.Gly27093=) c.81078T>C (p.Gly27026=) c.80703T>C (p.Gly26901=) c.107898T>C (p.Gly35966=) c.102975T>C (p.Gly34325=) n.446+3454A>G n.219+3454A>G c.106995T>C (p.Gly35665=) c.80889T>C (p.Gly26963=) c.80748T>C (p.Gly26916=) c.106791T>C (p.Gly35597=) c.102189T>C (p.Gly34063=) c.102186T>C (p.Gly34062=) c.99228T>C (p.Gly33076=) c.80844T>C (p.Gly26948=) c.102339T>C (p.Gly34113=) c.102336T>C (p.Gly34112=) c.101769T>C (p.Gly33923=) c.99111T>C (p.Gly33037=) c.99030T>C (p.Gly33010=) c.80793T>C (p.Gly26931=) c.70647T>C (p.Gly23549=) | |
2 | g.178527090A>T | CA430091627 | TTN,TTN-AS1 | c.100194T>A (p.Gly33398=) c.81279T>A (p.Gly27093=) c.81078T>A (p.Gly27026=) c.80703T>A (p.Gly26901=) c.107898T>A (p.Gly35966=) c.102975T>A (p.Gly34325=) n.446+3454A>T n.219+3454A>T c.106995T>A (p.Gly35665=) c.80889T>A (p.Gly26963=) c.80748T>A (p.Gly26916=) c.106791T>A (p.Gly35597=) c.102189T>A (p.Gly34063=) c.102186T>A (p.Gly34062=) c.99228T>A (p.Gly33076=) c.80844T>A (p.Gly26948=) c.102339T>A (p.Gly34113=) c.102336T>A (p.Gly34112=) c.101769T>A (p.Gly33923=) c.99111T>A (p.Gly33037=) c.99030T>A (p.Gly33010=) c.80793T>A (p.Gly26931=) c.70647T>A (p.Gly23549=) | ClinVar |
2 | g.178527090_178527096delinsACCATCT | CA1310514295 | TTN,TTN-AS1 | c.100188_100194delinsAGATGGT (p.Gln33396=) c.81273_81279delinsAGATGGT (p.Gln27091=) c.81072_81078delinsAGATGGT (p.Gln27024=) c.80697_80703delinsAGATGGT (p.Gln26899=) c.107892_107898delinsAGATGGT (p.Gln35964=) c.102969_102975delinsAGATGGT (p.Gln34323=) n.446+3454_446+3460delinsACCATCT n.219+3454_219+3460delinsACCATCT c.106989_106995delinsAGATGGT (p.Gln35663=) c.80883_80889delinsAGATGGT (p.Gln26961=) c.80742_80748delinsAGATGGT (p.Gln26914=) c.106785_106791delinsAGATGGT (p.Gln35595=) c.102183_102189delinsAGATGGT (p.Gln34061=) c.102180_102186delinsAGATGGT (p.Gln34060=) c.99222_99228delinsAGATGGT (p.Gln33074=) c.80838_80844delinsAGATGGT (p.Gln26946=) c.102333_102339delinsAGATGGT (p.Gln34111=) c.102330_102336delinsAGATGGT (p.Gln34110=) c.101763_101769delinsAGATGGT (p.Gln33921=) c.99105_99111delinsAGATGGT (p.Gln33035=) c.99024_99030delinsAGATGGT (p.Gln33008=) c.80787_80793delinsAGATGGT (p.Gln26929=) c.70641_70647delinsAGATGGT (p.Gln23547=) | |
2 | g.178527091C>A | CA349398425 | TTN,TTN-AS1 | c.100193G>T (p.Gly33398Val) c.81278G>T (p.Gly27093Val) c.81077G>T (p.Gly27026Val) c.80702G>T (p.Gly26901Val) c.107897G>T (p.Gly35966Val) c.102974G>T (p.Gly34325Val) n.446+3455C>A n.219+3455C>A c.106994G>T (p.Gly35665Val) c.80888G>T (p.Gly26963Val) c.80747G>T (p.Gly26916Val) c.106790G>T (p.Gly35597Val) c.102188G>T (p.Gly34063Val) c.102185G>T (p.Gly34062Val) c.99227G>T (p.Gly33076Val) c.80843G>T (p.Gly26948Val) c.102338G>T (p.Gly34113Val) c.102335G>T (p.Gly34112Val) c.101768G>T (p.Gly33923Val) c.99110G>T (p.Gly33037Val) c.99029G>T (p.Gly33010Val) c.80792G>T (p.Gly26931Val) c.70646G>T (p.Gly23549Val) | |
2 | g.178527091C= | CA1310514296 | TTN,TTN-AS1 | c.100193G= (p.Gly33398=) c.81278G= (p.Gly27093=) c.81077G= (p.Gly27026=) c.80702G= (p.Gly26901=) c.107897G= (p.Gly35966=) c.102974G= (p.Gly34325=) n.446+3455C= n.219+3455C= c.106994G= (p.Gly35665=) c.80888G= (p.Gly26963=) c.80747G= (p.Gly26916=) c.106790G= (p.Gly35597=) c.102188G= (p.Gly34063=) c.102185G= (p.Gly34062=) c.99227G= (p.Gly33076=) c.80843G= (p.Gly26948=) c.102338G= (p.Gly34113=) c.102335G= (p.Gly34112=) c.101768G= (p.Gly33923=) c.99110G= (p.Gly33037=) c.99029G= (p.Gly33010=) c.80792G= (p.Gly26931=) c.70646G= (p.Gly23549=) | |
2 | g.178527091C>G | CA349398430 | TTN,TTN-AS1 | c.100193G>C (p.Gly33398Ala) c.81278G>C (p.Gly27093Ala) c.81077G>C (p.Gly27026Ala) c.80702G>C (p.Gly26901Ala) c.107897G>C (p.Gly35966Ala) c.102974G>C (p.Gly34325Ala) n.446+3455C>G n.219+3455C>G c.106994G>C (p.Gly35665Ala) c.80888G>C (p.Gly26963Ala) c.80747G>C (p.Gly26916Ala) c.106790G>C (p.Gly35597Ala) c.102188G>C (p.Gly34063Ala) c.102185G>C (p.Gly34062Ala) c.99227G>C (p.Gly33076Ala) c.80843G>C (p.Gly26948Ala) c.102338G>C (p.Gly34113Ala) c.102335G>C (p.Gly34112Ala) c.101768G>C (p.Gly33923Ala) c.99110G>C (p.Gly33037Ala) c.99029G>C (p.Gly33010Ala) c.80792G>C (p.Gly26931Ala) c.70646G>C (p.Gly23549Ala) | |
2 | g.178527091C>T | CA184814 | TTN,TTN-AS1 | c.100193G>A (p.Gly33398Asp) c.81278G>A (p.Gly27093Asp) c.81077G>A (p.Gly27026Asp) c.80702G>A (p.Gly26901Asp) c.107897G>A (p.Gly35966Asp) c.102974G>A (p.Gly34325Asp) n.446+3455C>T n.219+3455C>T c.106994G>A (p.Gly35665Asp) c.80888G>A (p.Gly26963Asp) c.80747G>A (p.Gly26916Asp) c.106790G>A (p.Gly35597Asp) c.102188G>A (p.Gly34063Asp) c.102185G>A (p.Gly34062Asp) c.99227G>A (p.Gly33076Asp) c.80843G>A (p.Gly26948Asp) c.102338G>A (p.Gly34113Asp) c.102335G>A (p.Gly34112Asp) c.101768G>A (p.Gly33923Asp) c.99110G>A (p.Gly33037Asp) c.99029G>A (p.Gly33010Asp) c.80792G>A (p.Gly26931Asp) c.70646G>A (p.Gly23549Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527091_178527096del | CA343096 | TTN,TTN-AS1 | c.100188_100193del (p.Gln33396_Gly33398delinsHis) c.81273_81278del (p.Gln27091_Gly27093delinsHis) c.81072_81077del (p.Gln27024_Gly27026delinsHis) c.80697_80702del (p.Gln26899_Gly26901delinsHis) c.107892_107897del (p.Gln35964_Gly35966delinsHis) c.102969_102974del (p.Gln34323_Gly34325delinsHis) n.446+3455_446+3460del n.219+3455_219+3460del c.106989_106994del (p.Gln35663_Gly35665delinsHis) c.80883_80888del (p.Gln26961_Gly26963delinsHis) c.80742_80747del (p.Gln26914_Gly26916delinsHis) c.106785_106790del (p.Gln35595_Gly35597delinsHis) c.102183_102188del (p.Gln34061_Gly34063delinsHis) c.102180_102185del (p.Gln34060_Gly34062delinsHis) c.99222_99227del (p.Gln33074_Gly33076delinsHis) c.80838_80843del (p.Gln26946_Gly26948delinsHis) c.102333_102338del (p.Gln34111_Gly34113delinsHis) c.102330_102335del (p.Gln34110_Gly34112delinsHis) c.101763_101768del (p.Gln33921_Gly33923delinsHis) c.99105_99110del (p.Gln33035_Gly33037delinsHis) c.99024_99029del (p.Gln33008_Gly33010delinsHis) c.80787_80792del (p.Gln26929_Gly26931delinsHis) c.70641_70646del (p.Gln23547_Gly23549delinsHis) | ClinVar dbSNP |
2 | g.178527092C>A | CA349398433 | TTN,TTN-AS1 | c.100192G>T (p.Gly33398Cys) c.81277G>T (p.Gly27093Cys) c.81076G>T (p.Gly27026Cys) c.80701G>T (p.Gly26901Cys) c.107896G>T (p.Gly35966Cys) c.102973G>T (p.Gly34325Cys) n.446+3456C>A n.219+3456C>A c.106993G>T (p.Gly35665Cys) c.80887G>T (p.Gly26963Cys) c.80746G>T (p.Gly26916Cys) c.106789G>T (p.Gly35597Cys) c.102187G>T (p.Gly34063Cys) c.102184G>T (p.Gly34062Cys) c.99226G>T (p.Gly33076Cys) c.80842G>T (p.Gly26948Cys) c.102337G>T (p.Gly34113Cys) c.102334G>T (p.Gly34112Cys) c.101767G>T (p.Gly33923Cys) c.99109G>T (p.Gly33037Cys) c.99028G>T (p.Gly33010Cys) c.80791G>T (p.Gly26931Cys) c.70645G>T (p.Gly23549Cys) | |
2 | g.178527092C= | CA1310514297 | TTN,TTN-AS1 | c.100192G= (p.Gly33398=) c.81277G= (p.Gly27093=) c.81076G= (p.Gly27026=) c.80701G= (p.Gly26901=) c.107896G= (p.Gly35966=) c.102973G= (p.Gly34325=) n.446+3456C= n.219+3456C= c.106993G= (p.Gly35665=) c.80887G= (p.Gly26963=) c.80746G= (p.Gly26916=) c.106789G= (p.Gly35597=) c.102187G= (p.Gly34063=) c.102184G= (p.Gly34062=) c.99226G= (p.Gly33076=) c.80842G= (p.Gly26948=) c.102337G= (p.Gly34113=) c.102334G= (p.Gly34112=) c.101767G= (p.Gly33923=) c.99109G= (p.Gly33037=) c.99028G= (p.Gly33010=) c.80791G= (p.Gly26931=) c.70645G= (p.Gly23549=) | |
2 | g.178527092C>G | CA349398436 | TTN,TTN-AS1 | c.100192G>C (p.Gly33398Arg) c.81277G>C (p.Gly27093Arg) c.81076G>C (p.Gly27026Arg) c.80701G>C (p.Gly26901Arg) c.107896G>C (p.Gly35966Arg) c.102973G>C (p.Gly34325Arg) n.446+3456C>G n.219+3456C>G c.106993G>C (p.Gly35665Arg) c.80887G>C (p.Gly26963Arg) c.80746G>C (p.Gly26916Arg) c.106789G>C (p.Gly35597Arg) c.102187G>C (p.Gly34063Arg) c.102184G>C (p.Gly34062Arg) c.99226G>C (p.Gly33076Arg) c.80842G>C (p.Gly26948Arg) c.102337G>C (p.Gly34113Arg) c.102334G>C (p.Gly34112Arg) c.101767G>C (p.Gly33923Arg) c.99109G>C (p.Gly33037Arg) c.99028G>C (p.Gly33010Arg) c.80791G>C (p.Gly26931Arg) c.70645G>C (p.Gly23549Arg) | |
2 | g.178527092C>T | CA1984861 | TTN,TTN-AS1 | c.100192G>A (p.Gly33398Ser) c.81277G>A (p.Gly27093Ser) c.81076G>A (p.Gly27026Ser) c.80701G>A (p.Gly26901Ser) c.107896G>A (p.Gly35966Ser) c.102973G>A (p.Gly34325Ser) n.446+3456C>T n.219+3456C>T c.106993G>A (p.Gly35665Ser) c.80887G>A (p.Gly26963Ser) c.80746G>A (p.Gly26916Ser) c.106789G>A (p.Gly35597Ser) c.102187G>A (p.Gly34063Ser) c.102184G>A (p.Gly34062Ser) c.99226G>A (p.Gly33076Ser) c.80842G>A (p.Gly26948Ser) c.102337G>A (p.Gly34113Ser) c.102334G>A (p.Gly34112Ser) c.101767G>A (p.Gly33923Ser) c.99109G>A (p.Gly33037Ser) c.99028G>A (p.Gly33010Ser) c.80791G>A (p.Gly26931Ser) c.70645G>A (p.Gly23549Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527093A= | CA1310514298 | TTN,TTN-AS1 | c.100191T= (p.Asp33397=) c.81276T= (p.Asp27092=) c.81075T= (p.Asp27025=) c.80700T= (p.Asp26900=) c.107895T= (p.Asp35965=) c.102972T= (p.Asp34324=) n.446+3457A= n.219+3457A= c.106992T= (p.Asp35664=) c.80886T= (p.Asp26962=) c.80745T= (p.Asp26915=) c.106788T= (p.Asp35596=) c.102186T= (p.Asp34062=) c.102183T= (p.Asp34061=) c.99225T= (p.Asp33075=) c.80841T= (p.Asp26947=) c.102336T= (p.Asp34112=) c.102333T= (p.Asp34111=) c.101766T= (p.Asp33922=) c.99108T= (p.Asp33036=) c.99027T= (p.Asp33009=) c.80790T= (p.Asp26930=) c.70644T= (p.Asp23548=) | |
2 | g.178527093A>C | CA349398441 | TTN,TTN-AS1 | c.100191T>G (p.Asp33397Glu) c.81276T>G (p.Asp27092Glu) c.81075T>G (p.Asp27025Glu) c.80700T>G (p.Asp26900Glu) c.107895T>G (p.Asp35965Glu) c.102972T>G (p.Asp34324Glu) n.446+3457A>C n.219+3457A>C c.106992T>G (p.Asp35664Glu) c.80886T>G (p.Asp26962Glu) c.80745T>G (p.Asp26915Glu) c.106788T>G (p.Asp35596Glu) c.102186T>G (p.Asp34062Glu) c.102183T>G (p.Asp34061Glu) c.99225T>G (p.Asp33075Glu) c.80841T>G (p.Asp26947Glu) c.102336T>G (p.Asp34112Glu) c.102333T>G (p.Asp34111Glu) c.101766T>G (p.Asp33922Glu) c.99108T>G (p.Asp33036Glu) c.99027T>G (p.Asp33009Glu) c.80790T>G (p.Asp26930Glu) c.70644T>G (p.Asp23548Glu) | |
2 | g.178527093A>G | CA430091641 | TTN,TTN-AS1 | c.100191T>C (p.Asp33397=) c.81276T>C (p.Asp27092=) c.81075T>C (p.Asp27025=) c.80700T>C (p.Asp26900=) c.107895T>C (p.Asp35965=) c.102972T>C (p.Asp34324=) n.446+3457A>G n.219+3457A>G c.106992T>C (p.Asp35664=) c.80886T>C (p.Asp26962=) c.80745T>C (p.Asp26915=) c.106788T>C (p.Asp35596=) c.102186T>C (p.Asp34062=) c.102183T>C (p.Asp34061=) c.99225T>C (p.Asp33075=) c.80841T>C (p.Asp26947=) c.102336T>C (p.Asp34112=) c.102333T>C (p.Asp34111=) c.101766T>C (p.Asp33922=) c.99108T>C (p.Asp33036=) c.99027T>C (p.Asp33009=) c.80790T>C (p.Asp26930=) c.70644T>C (p.Asp23548=) | ClinVar dbSNP |
2 | g.178527093A>T | CA349398444 | TTN,TTN-AS1 | c.100191T>A (p.Asp33397Glu) c.81276T>A (p.Asp27092Glu) c.81075T>A (p.Asp27025Glu) c.80700T>A (p.Asp26900Glu) c.107895T>A (p.Asp35965Glu) c.102972T>A (p.Asp34324Glu) n.446+3457A>T n.219+3457A>T c.106992T>A (p.Asp35664Glu) c.80886T>A (p.Asp26962Glu) c.80745T>A (p.Asp26915Glu) c.106788T>A (p.Asp35596Glu) c.102186T>A (p.Asp34062Glu) c.102183T>A (p.Asp34061Glu) c.99225T>A (p.Asp33075Glu) c.80841T>A (p.Asp26947Glu) c.102336T>A (p.Asp34112Glu) c.102333T>A (p.Asp34111Glu) c.101766T>A (p.Asp33922Glu) c.99108T>A (p.Asp33036Glu) c.99027T>A (p.Asp33009Glu) c.80790T>A (p.Asp26930Glu) c.70644T>A (p.Asp23548Glu) | |
2 | g.178527094T>A | CA349398446 | TTN,TTN-AS1 | c.100190A>T (p.Asp33397Val) c.81275A>T (p.Asp27092Val) c.81074A>T (p.Asp27025Val) c.80699A>T (p.Asp26900Val) c.107894A>T (p.Asp35965Val) c.102971A>T (p.Asp34324Val) n.446+3458T>A n.219+3458T>A c.106991A>T (p.Asp35664Val) c.80885A>T (p.Asp26962Val) c.80744A>T (p.Asp26915Val) c.106787A>T (p.Asp35596Val) c.102185A>T (p.Asp34062Val) c.102182A>T (p.Asp34061Val) c.99224A>T (p.Asp33075Val) c.80840A>T (p.Asp26947Val) c.102335A>T (p.Asp34112Val) c.102332A>T (p.Asp34111Val) c.101765A>T (p.Asp33922Val) c.99107A>T (p.Asp33036Val) c.99026A>T (p.Asp33009Val) c.80789A>T (p.Asp26930Val) c.70643A>T (p.Asp23548Val) | |
2 | g.178527094T>C | CA10604691 | TTN,TTN-AS1 | c.100190A>G (p.Asp33397Gly) c.81275A>G (p.Asp27092Gly) c.81074A>G (p.Asp27025Gly) c.80699A>G (p.Asp26900Gly) c.107894A>G (p.Asp35965Gly) c.102971A>G (p.Asp34324Gly) n.446+3458T>C n.219+3458T>C c.106991A>G (p.Asp35664Gly) c.80885A>G (p.Asp26962Gly) c.80744A>G (p.Asp26915Gly) c.106787A>G (p.Asp35596Gly) c.102185A>G (p.Asp34062Gly) c.102182A>G (p.Asp34061Gly) c.99224A>G (p.Asp33075Gly) c.80840A>G (p.Asp26947Gly) c.102335A>G (p.Asp34112Gly) c.102332A>G (p.Asp34111Gly) c.101765A>G (p.Asp33922Gly) c.99107A>G (p.Asp33036Gly) c.99026A>G (p.Asp33009Gly) c.80789A>G (p.Asp26930Gly) c.70643A>G (p.Asp23548Gly) | ClinVar dbSNP |
2 | g.178527094T>G | CA349398450 | TTN,TTN-AS1 | c.100190A>C (p.Asp33397Ala) c.81275A>C (p.Asp27092Ala) c.81074A>C (p.Asp27025Ala) c.80699A>C (p.Asp26900Ala) c.107894A>C (p.Asp35965Ala) c.102971A>C (p.Asp34324Ala) n.446+3458T>G n.219+3458T>G c.106991A>C (p.Asp35664Ala) c.80885A>C (p.Asp26962Ala) c.80744A>C (p.Asp26915Ala) c.106787A>C (p.Asp35596Ala) c.102185A>C (p.Asp34062Ala) c.102182A>C (p.Asp34061Ala) c.99224A>C (p.Asp33075Ala) c.80840A>C (p.Asp26947Ala) c.102335A>C (p.Asp34112Ala) c.102332A>C (p.Asp34111Ala) c.101765A>C (p.Asp33922Ala) c.99107A>C (p.Asp33036Ala) c.99026A>C (p.Asp33009Ala) c.80789A>C (p.Asp26930Ala) c.70643A>C (p.Asp23548Ala) | |
2 | g.178527094T= | CA1310514299 | TTN,TTN-AS1 | c.100190A= (p.Asp33397=) c.81275A= (p.Asp27092=) c.81074A= (p.Asp27025=) c.80699A= (p.Asp26900=) c.107894A= (p.Asp35965=) c.102971A= (p.Asp34324=) n.446+3458T= n.219+3458T= c.106991A= (p.Asp35664=) c.80885A= (p.Asp26962=) c.80744A= (p.Asp26915=) c.106787A= (p.Asp35596=) c.102185A= (p.Asp34062=) c.102182A= (p.Asp34061=) c.99224A= (p.Asp33075=) c.80840A= (p.Asp26947=) c.102335A= (p.Asp34112=) c.102332A= (p.Asp34111=) c.101765A= (p.Asp33922=) c.99107A= (p.Asp33036=) c.99026A= (p.Asp33009=) c.80789A= (p.Asp26930=) c.70643A= (p.Asp23548=) | |
2 | g.178527095C>A | CA349398454 | TTN,TTN-AS1 | c.100189G>T (p.Asp33397Tyr) c.81274G>T (p.Asp27092Tyr) c.81073G>T (p.Asp27025Tyr) c.80698G>T (p.Asp26900Tyr) c.107893G>T (p.Asp35965Tyr) c.102970G>T (p.Asp34324Tyr) n.446+3459C>A n.219+3459C>A c.106990G>T (p.Asp35664Tyr) c.80884G>T (p.Asp26962Tyr) c.80743G>T (p.Asp26915Tyr) c.106786G>T (p.Asp35596Tyr) c.102184G>T (p.Asp34062Tyr) c.102181G>T (p.Asp34061Tyr) c.99223G>T (p.Asp33075Tyr) c.80839G>T (p.Asp26947Tyr) c.102334G>T (p.Asp34112Tyr) c.102331G>T (p.Asp34111Tyr) c.101764G>T (p.Asp33922Tyr) c.99106G>T (p.Asp33036Tyr) c.99025G>T (p.Asp33009Tyr) c.80788G>T (p.Asp26930Tyr) c.70642G>T (p.Asp23548Tyr) | |
2 | g.178527095C>G | CA349398456 | TTN,TTN-AS1 | c.100189G>C (p.Asp33397His) c.81274G>C (p.Asp27092His) c.81073G>C (p.Asp27025His) c.80698G>C (p.Asp26900His) c.107893G>C (p.Asp35965His) c.102970G>C (p.Asp34324His) n.446+3459C>G n.219+3459C>G c.106990G>C (p.Asp35664His) c.80884G>C (p.Asp26962His) c.80743G>C (p.Asp26915His) c.106786G>C (p.Asp35596His) c.102184G>C (p.Asp34062His) c.102181G>C (p.Asp34061His) c.99223G>C (p.Asp33075His) c.80839G>C (p.Asp26947His) c.102334G>C (p.Asp34112His) c.102331G>C (p.Asp34111His) c.101764G>C (p.Asp33922His) c.99106G>C (p.Asp33036His) c.99025G>C (p.Asp33009His) c.80788G>C (p.Asp26930His) c.70642G>C (p.Asp23548His) | |
2 | g.178527095C>T | CA349398458 | TTN,TTN-AS1 | c.100189G>A (p.Asp33397Asn) c.81274G>A (p.Asp27092Asn) c.81073G>A (p.Asp27025Asn) c.80698G>A (p.Asp26900Asn) c.107893G>A (p.Asp35965Asn) c.102970G>A (p.Asp34324Asn) n.446+3459C>T n.219+3459C>T c.106990G>A (p.Asp35664Asn) c.80884G>A (p.Asp26962Asn) c.80743G>A (p.Asp26915Asn) c.106786G>A (p.Asp35596Asn) c.102184G>A (p.Asp34062Asn) c.102181G>A (p.Asp34061Asn) c.99223G>A (p.Asp33075Asn) c.80839G>A (p.Asp26947Asn) c.102334G>A (p.Asp34112Asn) c.102331G>A (p.Asp34111Asn) c.101764G>A (p.Asp33922Asn) c.99106G>A (p.Asp33036Asn) c.99025G>A (p.Asp33009Asn) c.80788G>A (p.Asp26930Asn) c.70642G>A (p.Asp23548Asn) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178527096T>A | CA349398459 | TTN,TTN-AS1 | c.100188A>T (p.Gln33396His) c.81273A>T (p.Gln27091His) c.81072A>T (p.Gln27024His) c.80697A>T (p.Gln26899His) c.107892A>T (p.Gln35964His) c.102969A>T (p.Gln34323His) n.446+3460T>A n.219+3460T>A c.106989A>T (p.Gln35663His) c.80883A>T (p.Gln26961His) c.80742A>T (p.Gln26914His) c.106785A>T (p.Gln35595His) c.102183A>T (p.Gln34061His) c.102180A>T (p.Gln34060His) c.99222A>T (p.Gln33074His) c.80838A>T (p.Gln26946His) c.102333A>T (p.Gln34111His) c.102330A>T (p.Gln34110His) c.101763A>T (p.Gln33921His) c.99105A>T (p.Gln33035His) c.99024A>T (p.Gln33008His) c.80787A>T (p.Gln26929His) c.70641A>T (p.Gln23547His) | |
2 | g.178527096T>C | CA430091657 | TTN,TTN-AS1 | c.100188A>G (p.Gln33396=) c.81273A>G (p.Gln27091=) c.81072A>G (p.Gln27024=) c.80697A>G (p.Gln26899=) c.107892A>G (p.Gln35964=) c.102969A>G (p.Gln34323=) n.446+3460T>C n.219+3460T>C c.106989A>G (p.Gln35663=) c.80883A>G (p.Gln26961=) c.80742A>G (p.Gln26914=) c.106785A>G (p.Gln35595=) c.102183A>G (p.Gln34061=) c.102180A>G (p.Gln34060=) c.99222A>G (p.Gln33074=) c.80838A>G (p.Gln26946=) c.102333A>G (p.Gln34111=) c.102330A>G (p.Gln34110=) c.101763A>G (p.Gln33921=) c.99105A>G (p.Gln33035=) c.99024A>G (p.Gln33008=) c.80787A>G (p.Gln26929=) c.70641A>G (p.Gln23547=) | |
2 | g.178527096T>G | CA349398460 | TTN,TTN-AS1 | c.100188A>C (p.Gln33396His) c.81273A>C (p.Gln27091His) c.81072A>C (p.Gln27024His) c.80697A>C (p.Gln26899His) c.107892A>C (p.Gln35964His) c.102969A>C (p.Gln34323His) n.446+3460T>G n.219+3460T>G c.106989A>C (p.Gln35663His) c.80883A>C (p.Gln26961His) c.80742A>C (p.Gln26914His) c.106785A>C (p.Gln35595His) c.102183A>C (p.Gln34061His) c.102180A>C (p.Gln34060His) c.99222A>C (p.Gln33074His) c.80838A>C (p.Gln26946His) c.102333A>C (p.Gln34111His) c.102330A>C (p.Gln34110His) c.101763A>C (p.Gln33921His) c.99105A>C (p.Gln33035His) c.99024A>C (p.Gln33008His) c.80787A>C (p.Gln26929His) c.70641A>C (p.Gln23547His) | |
2 | g.178527097T>A | CA349398463 | TTN,TTN-AS1 | c.100187A>T (p.Gln33396Leu) c.81272A>T (p.Gln27091Leu) c.81071A>T (p.Gln27024Leu) c.80696A>T (p.Gln26899Leu) c.107891A>T (p.Gln35964Leu) c.102968A>T (p.Gln34323Leu) n.446+3461T>A n.219+3461T>A c.106988A>T (p.Gln35663Leu) c.80882A>T (p.Gln26961Leu) c.80741A>T (p.Gln26914Leu) c.106784A>T (p.Gln35595Leu) c.102182A>T (p.Gln34061Leu) c.102179A>T (p.Gln34060Leu) c.99221A>T (p.Gln33074Leu) c.80837A>T (p.Gln26946Leu) c.102332A>T (p.Gln34111Leu) c.102329A>T (p.Gln34110Leu) c.101762A>T (p.Gln33921Leu) c.99104A>T (p.Gln33035Leu) c.99023A>T (p.Gln33008Leu) c.80786A>T (p.Gln26929Leu) c.70640A>T (p.Gln23547Leu) | |
2 | g.178527097T>C | CA349398466 | TTN,TTN-AS1 | c.100187A>G (p.Gln33396Arg) c.81272A>G (p.Gln27091Arg) c.81071A>G (p.Gln27024Arg) c.80696A>G (p.Gln26899Arg) c.107891A>G (p.Gln35964Arg) c.102968A>G (p.Gln34323Arg) n.446+3461T>C n.219+3461T>C c.106988A>G (p.Gln35663Arg) c.80882A>G (p.Gln26961Arg) c.80741A>G (p.Gln26914Arg) c.106784A>G (p.Gln35595Arg) c.102182A>G (p.Gln34061Arg) c.102179A>G (p.Gln34060Arg) c.99221A>G (p.Gln33074Arg) c.80837A>G (p.Gln26946Arg) c.102332A>G (p.Gln34111Arg) c.102329A>G (p.Gln34110Arg) c.101762A>G (p.Gln33921Arg) c.99104A>G (p.Gln33035Arg) c.99023A>G (p.Gln33008Arg) c.80786A>G (p.Gln26929Arg) c.70640A>G (p.Gln23547Arg) | gnomAD v4 |
2 | g.178527097T>G | CA349398468 | TTN,TTN-AS1 | c.100187A>C (p.Gln33396Pro) c.81272A>C (p.Gln27091Pro) c.81071A>C (p.Gln27024Pro) c.80696A>C (p.Gln26899Pro) c.107891A>C (p.Gln35964Pro) c.102968A>C (p.Gln34323Pro) n.446+3461T>G n.219+3461T>G c.106988A>C (p.Gln35663Pro) c.80882A>C (p.Gln26961Pro) c.80741A>C (p.Gln26914Pro) c.106784A>C (p.Gln35595Pro) c.102182A>C (p.Gln34061Pro) c.102179A>C (p.Gln34060Pro) c.99221A>C (p.Gln33074Pro) c.80837A>C (p.Gln26946Pro) c.102332A>C (p.Gln34111Pro) c.102329A>C (p.Gln34110Pro) c.101762A>C (p.Gln33921Pro) c.99104A>C (p.Gln33035Pro) c.99023A>C (p.Gln33008Pro) c.80786A>C (p.Gln26929Pro) c.70640A>C (p.Gln23547Pro) | |
2 | g.178527098G>A | CA343092 | TTN,TTN-AS1 | c.100186C>T (p.Gln33396Ter) c.81271C>T (p.Gln27091Ter) c.81070C>T (p.Gln27024Ter) c.80695C>T (p.Gln26899Ter) c.107890C>T (p.Gln35964Ter) c.102967C>T (p.Gln34323Ter) n.446+3462G>A n.219+3462G>A c.106987C>T (p.Gln35663Ter) c.80881C>T (p.Gln26961Ter) c.80740C>T (p.Gln26914Ter) c.106783C>T (p.Gln35595Ter) c.102181C>T (p.Gln34061Ter) c.102178C>T (p.Gln34060Ter) c.99220C>T (p.Gln33074Ter) c.80836C>T (p.Gln26946Ter) c.102331C>T (p.Gln34111Ter) c.102328C>T (p.Gln34110Ter) c.101761C>T (p.Gln33921Ter) c.99103C>T (p.Gln33035Ter) c.99022C>T (p.Gln33008Ter) c.80785C>T (p.Gln26929Ter) c.70639C>T (p.Gln23547Ter) | ClinVar dbSNP |
2 | g.178527098G>C | CA349398474 | TTN,TTN-AS1 | c.100186C>G (p.Gln33396Glu) c.81271C>G (p.Gln27091Glu) c.81070C>G (p.Gln27024Glu) c.80695C>G (p.Gln26899Glu) c.107890C>G (p.Gln35964Glu) c.102967C>G (p.Gln34323Glu) n.446+3462G>C n.219+3462G>C c.106987C>G (p.Gln35663Glu) c.80881C>G (p.Gln26961Glu) c.80740C>G (p.Gln26914Glu) c.106783C>G (p.Gln35595Glu) c.102181C>G (p.Gln34061Glu) c.102178C>G (p.Gln34060Glu) c.99220C>G (p.Gln33074Glu) c.80836C>G (p.Gln26946Glu) c.102331C>G (p.Gln34111Glu) c.102328C>G (p.Gln34110Glu) c.101761C>G (p.Gln33921Glu) c.99103C>G (p.Gln33035Glu) c.99022C>G (p.Gln33008Glu) c.80785C>G (p.Gln26929Glu) c.70639C>G (p.Gln23547Glu) | |
2 | g.178527098G= | CA1310514300 | TTN,TTN-AS1 | c.100186C= (p.Gln33396=) c.81271C= (p.Gln27091=) c.81070C= (p.Gln27024=) c.80695C= (p.Gln26899=) c.107890C= (p.Gln35964=) c.102967C= (p.Gln34323=) n.446+3462G= n.219+3462G= c.106987C= (p.Gln35663=) c.80881C= (p.Gln26961=) c.80740C= (p.Gln26914=) c.106783C= (p.Gln35595=) c.102181C= (p.Gln34061=) c.102178C= (p.Gln34060=) c.99220C= (p.Gln33074=) c.80836C= (p.Gln26946=) c.102331C= (p.Gln34111=) c.102328C= (p.Gln34110=) c.101761C= (p.Gln33921=) c.99103C= (p.Gln33035=) c.99022C= (p.Gln33008=) c.80785C= (p.Gln26929=) c.70639C= (p.Gln23547=) | |
2 | g.178527098G>T | CA349398475 | TTN,TTN-AS1 | c.100186C>A (p.Gln33396Lys) c.81271C>A (p.Gln27091Lys) c.81070C>A (p.Gln27024Lys) c.80695C>A (p.Gln26899Lys) c.107890C>A (p.Gln35964Lys) c.102967C>A (p.Gln34323Lys) n.446+3462G>T n.219+3462G>T c.106987C>A (p.Gln35663Lys) c.80881C>A (p.Gln26961Lys) c.80740C>A (p.Gln26914Lys) c.106783C>A (p.Gln35595Lys) c.102181C>A (p.Gln34061Lys) c.102178C>A (p.Gln34060Lys) c.99220C>A (p.Gln33074Lys) c.80836C>A (p.Gln26946Lys) c.102331C>A (p.Gln34111Lys) c.102328C>A (p.Gln34110Lys) c.101761C>A (p.Gln33921Lys) c.99103C>A (p.Gln33035Lys) c.99022C>A (p.Gln33008Lys) c.80785C>A (p.Gln26929Lys) c.70639C>A (p.Gln23547Lys) | |
2 | g.178527098_178527099delinsGT | CA1310514301 | TTN,TTN-AS1 | c.100185_100186delinsAC (p.Lys33395=) c.81270_81271delinsAC (p.Lys27090=) c.81069_81070delinsAC (p.Lys27023=) c.80694_80695delinsAC (p.Lys26898=) c.107889_107890delinsAC (p.Lys35963=) c.102966_102967delinsAC (p.Lys34322=) n.446+3462_446+3463delinsGT n.219+3462_219+3463delinsGT c.106986_106987delinsAC (p.Lys35662=) c.80880_80881delinsAC (p.Lys26960=) c.80739_80740delinsAC (p.Lys26913=) c.106782_106783delinsAC (p.Lys35594=) c.102180_102181delinsAC (p.Lys34060=) c.102177_102178delinsAC (p.Lys34059=) c.99219_99220delinsAC (p.Lys33073=) c.80835_80836delinsAC (p.Lys26945=) c.102330_102331delinsAC (p.Lys34110=) c.102327_102328delinsAC (p.Lys34109=) c.101760_101761delinsAC (p.Lys33920=) c.99102_99103delinsAC (p.Lys33034=) c.99021_99022delinsAC (p.Lys33007=) c.80784_80785delinsAC (p.Lys26928=) c.70638_70639delinsAC (p.Lys23546=) | |
2 | g.178527099T>A | CA349398480 | TTN,TTN-AS1 | c.100185A>T (p.Lys33395Asn) c.81270A>T (p.Lys27090Asn) c.81069A>T (p.Lys27023Asn) c.80694A>T (p.Lys26898Asn) c.107889A>T (p.Lys35963Asn) c.102966A>T (p.Lys34322Asn) n.446+3463T>A n.219+3463T>A c.106986A>T (p.Lys35662Asn) c.80880A>T (p.Lys26960Asn) c.80739A>T (p.Lys26913Asn) c.106782A>T (p.Lys35594Asn) c.102180A>T (p.Lys34060Asn) c.102177A>T (p.Lys34059Asn) c.99219A>T (p.Lys33073Asn) c.80835A>T (p.Lys26945Asn) c.102330A>T (p.Lys34110Asn) c.102327A>T (p.Lys34109Asn) c.101760A>T (p.Lys33920Asn) c.99102A>T (p.Lys33034Asn) c.99021A>T (p.Lys33007Asn) c.80784A>T (p.Lys26928Asn) c.70638A>T (p.Lys23546Asn) | |
2 | g.178527099T>C | CA430091674 | TTN,TTN-AS1 | c.100185A>G (p.Lys33395=) c.81270A>G (p.Lys27090=) c.81069A>G (p.Lys27023=) c.80694A>G (p.Lys26898=) c.107889A>G (p.Lys35963=) c.102966A>G (p.Lys34322=) n.446+3463T>C n.219+3463T>C c.106986A>G (p.Lys35662=) c.80880A>G (p.Lys26960=) c.80739A>G (p.Lys26913=) c.106782A>G (p.Lys35594=) c.102180A>G (p.Lys34060=) c.102177A>G (p.Lys34059=) c.99219A>G (p.Lys33073=) c.80835A>G (p.Lys26945=) c.102330A>G (p.Lys34110=) c.102327A>G (p.Lys34109=) c.101760A>G (p.Lys33920=) c.99102A>G (p.Lys33034=) c.99021A>G (p.Lys33007=) c.80784A>G (p.Lys26928=) c.70638A>G (p.Lys23546=) | gnomAD v4 |
2 | g.178527099T>G | CA349398481 | TTN,TTN-AS1 | c.100185A>C (p.Lys33395Asn) c.81270A>C (p.Lys27090Asn) c.81069A>C (p.Lys27023Asn) c.80694A>C (p.Lys26898Asn) c.107889A>C (p.Lys35963Asn) c.102966A>C (p.Lys34322Asn) n.446+3463T>G n.219+3463T>G c.106986A>C (p.Lys35662Asn) c.80880A>C (p.Lys26960Asn) c.80739A>C (p.Lys26913Asn) c.106782A>C (p.Lys35594Asn) c.102180A>C (p.Lys34060Asn) c.102177A>C (p.Lys34059Asn) c.99219A>C (p.Lys33073Asn) c.80835A>C (p.Lys26945Asn) c.102330A>C (p.Lys34110Asn) c.102327A>C (p.Lys34109Asn) c.101760A>C (p.Lys33920Asn) c.99102A>C (p.Lys33034Asn) c.99021A>C (p.Lys33007Asn) c.80784A>C (p.Lys26928Asn) c.70638A>C (p.Lys23546Asn) | |
2 | g.178527101del | CA309464 | TTN,TTN-AS1 | c.100185del (p.Lys33395AsnfsTer9) c.81270del (p.Lys27090AsnfsTer9) c.81069del (p.Lys27023AsnfsTer9) c.80694del (p.Lys26898AsnfsTer9) c.107889del (p.Lys35963AsnfsTer9) c.102966del (p.Lys34322AsnfsTer9) n.446+3465del n.219+3465del c.106986del (p.Lys35662AsnfsTer9) c.80880del (p.Lys26960AsnfsTer9) c.80739del (p.Lys26913AsnfsTer9) c.106782del (p.Lys35594AsnfsTer9) c.102180del (p.Lys34060AsnfsTer9) c.102177del (p.Lys34059AsnfsTer9) c.99219del (p.Lys33073AsnfsTer9) c.80835del (p.Lys26945AsnfsTer9) c.102330del (p.Lys34110AsnfsTer9) c.102327del (p.Lys34109AsnfsTer9) c.101760del (p.Lys33920AsnfsTer9) c.99102del (p.Lys33034AsnfsTer9) c.99021del (p.Lys33007AsnfsTer9) c.80784del (p.Lys26928AsnfsTer9) c.70638del (p.Lys23546AsnfsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527100T>A | CA349398485 | TTN,TTN-AS1 | c.100184A>T (p.Lys33395Ile) c.81269A>T (p.Lys27090Ile) c.81068A>T (p.Lys27023Ile) c.80693A>T (p.Lys26898Ile) c.107888A>T (p.Lys35963Ile) c.102965A>T (p.Lys34322Ile) n.446+3464T>A n.219+3464T>A c.106985A>T (p.Lys35662Ile) c.80879A>T (p.Lys26960Ile) c.80738A>T (p.Lys26913Ile) c.106781A>T (p.Lys35594Ile) c.102179A>T (p.Lys34060Ile) c.102176A>T (p.Lys34059Ile) c.99218A>T (p.Lys33073Ile) c.80834A>T (p.Lys26945Ile) c.102329A>T (p.Lys34110Ile) c.102326A>T (p.Lys34109Ile) c.101759A>T (p.Lys33920Ile) c.99101A>T (p.Lys33034Ile) c.99020A>T (p.Lys33007Ile) c.80783A>T (p.Lys26928Ile) c.70637A>T (p.Lys23546Ile) | |
2 | g.178527100T>C | CA349398488 | TTN,TTN-AS1 | c.100184A>G (p.Lys33395Arg) c.81269A>G (p.Lys27090Arg) c.81068A>G (p.Lys27023Arg) c.80693A>G (p.Lys26898Arg) c.107888A>G (p.Lys35963Arg) c.102965A>G (p.Lys34322Arg) n.446+3464T>C n.219+3464T>C c.106985A>G (p.Lys35662Arg) c.80879A>G (p.Lys26960Arg) c.80738A>G (p.Lys26913Arg) c.106781A>G (p.Lys35594Arg) c.102179A>G (p.Lys34060Arg) c.102176A>G (p.Lys34059Arg) c.99218A>G (p.Lys33073Arg) c.80834A>G (p.Lys26945Arg) c.102329A>G (p.Lys34110Arg) c.102326A>G (p.Lys34109Arg) c.101759A>G (p.Lys33920Arg) c.99101A>G (p.Lys33034Arg) c.99020A>G (p.Lys33007Arg) c.80783A>G (p.Lys26928Arg) c.70637A>G (p.Lys23546Arg) | |
2 | g.178527100T>G | CA349398491 | TTN,TTN-AS1 | c.100184A>C (p.Lys33395Thr) c.81269A>C (p.Lys27090Thr) c.81068A>C (p.Lys27023Thr) c.80693A>C (p.Lys26898Thr) c.107888A>C (p.Lys35963Thr) c.102965A>C (p.Lys34322Thr) n.446+3464T>G n.219+3464T>G c.106985A>C (p.Lys35662Thr) c.80879A>C (p.Lys26960Thr) c.80738A>C (p.Lys26913Thr) c.106781A>C (p.Lys35594Thr) c.102179A>C (p.Lys34060Thr) c.102176A>C (p.Lys34059Thr) c.99218A>C (p.Lys33073Thr) c.80834A>C (p.Lys26945Thr) c.102329A>C (p.Lys34110Thr) c.102326A>C (p.Lys34109Thr) c.101759A>C (p.Lys33920Thr) c.99101A>C (p.Lys33034Thr) c.99020A>C (p.Lys33007Thr) c.80783A>C (p.Lys26928Thr) c.70637A>C (p.Lys23546Thr) | |
2 | g.178527101T>A | CA349398494 | TTN,TTN-AS1 | c.100183A>T (p.Lys33395Ter) c.81268A>T (p.Lys27090Ter) c.81067A>T (p.Lys27023Ter) c.80692A>T (p.Lys26898Ter) c.107887A>T (p.Lys35963Ter) c.102964A>T (p.Lys34322Ter) n.446+3465T>A n.219+3465T>A c.106984A>T (p.Lys35662Ter) c.80878A>T (p.Lys26960Ter) c.80737A>T (p.Lys26913Ter) c.106780A>T (p.Lys35594Ter) c.102178A>T (p.Lys34060Ter) c.102175A>T (p.Lys34059Ter) c.99217A>T (p.Lys33073Ter) c.80833A>T (p.Lys26945Ter) c.102328A>T (p.Lys34110Ter) c.102325A>T (p.Lys34109Ter) c.101758A>T (p.Lys33920Ter) c.99100A>T (p.Lys33034Ter) c.99019A>T (p.Lys33007Ter) c.80782A>T (p.Lys26928Ter) c.70636A>T (p.Lys23546Ter) | |
2 | g.178527101T>C | CA349398497 | TTN,TTN-AS1 | c.100183A>G (p.Lys33395Glu) c.81268A>G (p.Lys27090Glu) c.81067A>G (p.Lys27023Glu) c.80692A>G (p.Lys26898Glu) c.107887A>G (p.Lys35963Glu) c.102964A>G (p.Lys34322Glu) n.446+3465T>C n.219+3465T>C c.106984A>G (p.Lys35662Glu) c.80878A>G (p.Lys26960Glu) c.80737A>G (p.Lys26913Glu) c.106780A>G (p.Lys35594Glu) c.102178A>G (p.Lys34060Glu) c.102175A>G (p.Lys34059Glu) c.99217A>G (p.Lys33073Glu) c.80833A>G (p.Lys26945Glu) c.102328A>G (p.Lys34110Glu) c.102325A>G (p.Lys34109Glu) c.101758A>G (p.Lys33920Glu) c.99100A>G (p.Lys33034Glu) c.99019A>G (p.Lys33007Glu) c.80782A>G (p.Lys26928Glu) c.70636A>G (p.Lys23546Glu) | dbSNP |
2 | g.178527101T>G | CA349398495 | TTN,TTN-AS1 | c.100183A>C (p.Lys33395Gln) c.81268A>C (p.Lys27090Gln) c.81067A>C (p.Lys27023Gln) c.80692A>C (p.Lys26898Gln) c.107887A>C (p.Lys35963Gln) c.102964A>C (p.Lys34322Gln) n.446+3465T>G n.219+3465T>G c.106984A>C (p.Lys35662Gln) c.80878A>C (p.Lys26960Gln) c.80737A>C (p.Lys26913Gln) c.106780A>C (p.Lys35594Gln) c.102178A>C (p.Lys34060Gln) c.102175A>C (p.Lys34059Gln) c.99217A>C (p.Lys33073Gln) c.80833A>C (p.Lys26945Gln) c.102328A>C (p.Lys34110Gln) c.102325A>C (p.Lys34109Gln) c.101758A>C (p.Lys33920Gln) c.99100A>C (p.Lys33034Gln) c.99019A>C (p.Lys33007Gln) c.80782A>C (p.Lys26928Gln) c.70636A>C (p.Lys23546Gln) | dbSNP gnomAD v4 |
2 | g.178527101T= | CA1310514302 | TTN,TTN-AS1 | c.100183A= (p.Lys33395=) c.81268A= (p.Lys27090=) c.81067A= (p.Lys27023=) c.80692A= (p.Lys26898=) c.107887A= (p.Lys35963=) c.102964A= (p.Lys34322=) n.446+3465T= n.219+3465T= c.106984A= (p.Lys35662=) c.80878A= (p.Lys26960=) c.80737A= (p.Lys26913=) c.106780A= (p.Lys35594=) c.102178A= (p.Lys34060=) c.102175A= (p.Lys34059=) c.99217A= (p.Lys33073=) c.80833A= (p.Lys26945=) c.102328A= (p.Lys34110=) c.102325A= (p.Lys34109=) c.101758A= (p.Lys33920=) c.99100A= (p.Lys33034=) c.99019A= (p.Lys33007=) c.80782A= (p.Lys26928=) c.70636A= (p.Lys23546=) | |
2 | g.178527102C>A | CA349398499 | TTN,TTN-AS1 | c.100182G>T (p.Gln33394His) c.81267G>T (p.Gln27089His) c.81066G>T (p.Gln27022His) c.80691G>T (p.Gln26897His) c.107886G>T (p.Gln35962His) c.102963G>T (p.Gln34321His) n.446+3466C>A n.219+3466C>A c.106983G>T (p.Gln35661His) c.80877G>T (p.Gln26959His) c.80736G>T (p.Gln26912His) c.106779G>T (p.Gln35593His) c.102177G>T (p.Gln34059His) c.102174G>T (p.Gln34058His) c.99216G>T (p.Gln33072His) c.80832G>T (p.Gln26944His) c.102327G>T (p.Gln34109His) c.102324G>T (p.Gln34108His) c.101757G>T (p.Gln33919His) c.99099G>T (p.Gln33033His) c.99018G>T (p.Gln33006His) c.80781G>T (p.Gln26927His) c.70635G>T (p.Gln23545His) | |
2 | g.178527102C>G | CA349398502 | TTN,TTN-AS1 | c.100182G>C (p.Gln33394His) c.81267G>C (p.Gln27089His) c.81066G>C (p.Gln27022His) c.80691G>C (p.Gln26897His) c.107886G>C (p.Gln35962His) c.102963G>C (p.Gln34321His) n.446+3466C>G n.219+3466C>G c.106983G>C (p.Gln35661His) c.80877G>C (p.Gln26959His) c.80736G>C (p.Gln26912His) c.106779G>C (p.Gln35593His) c.102177G>C (p.Gln34059His) c.102174G>C (p.Gln34058His) c.99216G>C (p.Gln33072His) c.80832G>C (p.Gln26944His) c.102327G>C (p.Gln34109His) c.102324G>C (p.Gln34108His) c.101757G>C (p.Gln33919His) c.99099G>C (p.Gln33033His) c.99018G>C (p.Gln33006His) c.80781G>C (p.Gln26927His) c.70635G>C (p.Gln23545His) | |
2 | g.178527102C>T | CA430091689 | TTN,TTN-AS1 | c.100182G>A (p.Gln33394=) c.81267G>A (p.Gln27089=) c.81066G>A (p.Gln27022=) c.80691G>A (p.Gln26897=) c.107886G>A (p.Gln35962=) c.102963G>A (p.Gln34321=) n.446+3466C>T n.219+3466C>T c.106983G>A (p.Gln35661=) c.80877G>A (p.Gln26959=) c.80736G>A (p.Gln26912=) c.106779G>A (p.Gln35593=) c.102177G>A (p.Gln34059=) c.102174G>A (p.Gln34058=) c.99216G>A (p.Gln33072=) c.80832G>A (p.Gln26944=) c.102327G>A (p.Gln34109=) c.102324G>A (p.Gln34108=) c.101757G>A (p.Gln33919=) c.99099G>A (p.Gln33033=) c.99018G>A (p.Gln33006=) c.80781G>A (p.Gln26927=) c.70635G>A (p.Gln23545=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178527102_178527104dup | CA1310514303 | TTN,TTN-AS1 | c.100180_100182dup (p.Gln33394_Lys33395insGln) c.81265_81267dup (p.Gln27089_Lys27090insGln) c.81064_81066dup (p.Gln27022_Lys27023insGln) c.80689_80691dup (p.Gln26897_Lys26898insGln) c.107884_107886dup (p.Gln35962_Lys35963insGln) c.102961_102963dup (p.Gln34321_Lys34322insGln) n.446+3466_446+3468dup n.219+3466_219+3468dup c.106981_106983dup (p.Gln35661_Lys35662insGln) c.80875_80877dup (p.Gln26959_Lys26960insGln) c.80734_80736dup (p.Gln26912_Lys26913insGln) c.106777_106779dup (p.Gln35593_Lys35594insGln) c.102175_102177dup (p.Gln34059_Lys34060insGln) c.102172_102174dup (p.Gln34058_Lys34059insGln) c.99214_99216dup (p.Gln33072_Lys33073insGln) c.80830_80832dup (p.Gln26944_Lys26945insGln) c.102325_102327dup (p.Gln34109_Lys34110insGln) c.102322_102324dup (p.Gln34108_Lys34109insGln) c.101755_101757dup (p.Gln33919_Lys33920insGln) c.99097_99099dup (p.Gln33033_Lys33034insGln) c.99016_99018dup (p.Gln33006_Lys33007insGln) c.80779_80781dup (p.Gln26927_Lys26928insGln) c.70633_70635dup (p.Gln23545_Lys23546insGln) | dbSNP |
2 | g.178527103T>A | CA349398505 | TTN,TTN-AS1 | c.100181A>T (p.Gln33394Leu) c.81266A>T (p.Gln27089Leu) c.81065A>T (p.Gln27022Leu) c.80690A>T (p.Gln26897Leu) c.107885A>T (p.Gln35962Leu) c.102962A>T (p.Gln34321Leu) n.446+3467T>A n.219+3467T>A c.106982A>T (p.Gln35661Leu) c.80876A>T (p.Gln26959Leu) c.80735A>T (p.Gln26912Leu) c.106778A>T (p.Gln35593Leu) c.102176A>T (p.Gln34059Leu) c.102173A>T (p.Gln34058Leu) c.99215A>T (p.Gln33072Leu) c.80831A>T (p.Gln26944Leu) c.102326A>T (p.Gln34109Leu) c.102323A>T (p.Gln34108Leu) c.101756A>T (p.Gln33919Leu) c.99098A>T (p.Gln33033Leu) c.99017A>T (p.Gln33006Leu) c.80780A>T (p.Gln26927Leu) c.70634A>T (p.Gln23545Leu) | |
2 | g.178527103T>C | CA349398506 | TTN,TTN-AS1 | c.100181A>G (p.Gln33394Arg) c.81266A>G (p.Gln27089Arg) c.81065A>G (p.Gln27022Arg) c.80690A>G (p.Gln26897Arg) c.107885A>G (p.Gln35962Arg) c.102962A>G (p.Gln34321Arg) n.446+3467T>C n.219+3467T>C c.106982A>G (p.Gln35661Arg) c.80876A>G (p.Gln26959Arg) c.80735A>G (p.Gln26912Arg) c.106778A>G (p.Gln35593Arg) c.102176A>G (p.Gln34059Arg) c.102173A>G (p.Gln34058Arg) c.99215A>G (p.Gln33072Arg) c.80831A>G (p.Gln26944Arg) c.102326A>G (p.Gln34109Arg) c.102323A>G (p.Gln34108Arg) c.101756A>G (p.Gln33919Arg) c.99098A>G (p.Gln33033Arg) c.99017A>G (p.Gln33006Arg) c.80780A>G (p.Gln26927Arg) c.70634A>G (p.Gln23545Arg) | dbSNP |
2 | g.178527103T>G | CA349398510 | TTN,TTN-AS1 | c.100181A>C (p.Gln33394Pro) c.81266A>C (p.Gln27089Pro) c.81065A>C (p.Gln27022Pro) c.80690A>C (p.Gln26897Pro) c.107885A>C (p.Gln35962Pro) c.102962A>C (p.Gln34321Pro) n.446+3467T>G n.219+3467T>G c.106982A>C (p.Gln35661Pro) c.80876A>C (p.Gln26959Pro) c.80735A>C (p.Gln26912Pro) c.106778A>C (p.Gln35593Pro) c.102176A>C (p.Gln34059Pro) c.102173A>C (p.Gln34058Pro) c.99215A>C (p.Gln33072Pro) c.80831A>C (p.Gln26944Pro) c.102326A>C (p.Gln34109Pro) c.102323A>C (p.Gln34108Pro) c.101756A>C (p.Gln33919Pro) c.99098A>C (p.Gln33033Pro) c.99017A>C (p.Gln33006Pro) c.80780A>C (p.Gln26927Pro) c.70634A>C (p.Gln23545Pro) | |
2 | g.178527104G>A | CA349398512 | TTN,TTN-AS1 | c.100180C>T (p.Gln33394Ter) c.81265C>T (p.Gln27089Ter) c.81064C>T (p.Gln27022Ter) c.80689C>T (p.Gln26897Ter) c.107884C>T (p.Gln35962Ter) c.102961C>T (p.Gln34321Ter) n.446+3468G>A n.219+3468G>A c.106981C>T (p.Gln35661Ter) c.80875C>T (p.Gln26959Ter) c.80734C>T (p.Gln26912Ter) c.106777C>T (p.Gln35593Ter) c.102175C>T (p.Gln34059Ter) c.102172C>T (p.Gln34058Ter) c.99214C>T (p.Gln33072Ter) c.80830C>T (p.Gln26944Ter) c.102325C>T (p.Gln34109Ter) c.102322C>T (p.Gln34108Ter) c.101755C>T (p.Gln33919Ter) c.99097C>T (p.Gln33033Ter) c.99016C>T (p.Gln33006Ter) c.80779C>T (p.Gln26927Ter) c.70633C>T (p.Gln23545Ter) | COSMIC COSMIC COSMIC |
2 | g.178527104G>C | CA349398515 | TTN,TTN-AS1 | c.100180C>G (p.Gln33394Glu) c.81265C>G (p.Gln27089Glu) c.81064C>G (p.Gln27022Glu) c.80689C>G (p.Gln26897Glu) c.107884C>G (p.Gln35962Glu) c.102961C>G (p.Gln34321Glu) n.446+3468G>C n.219+3468G>C c.106981C>G (p.Gln35661Glu) c.80875C>G (p.Gln26959Glu) c.80734C>G (p.Gln26912Glu) c.106777C>G (p.Gln35593Glu) c.102175C>G (p.Gln34059Glu) c.102172C>G (p.Gln34058Glu) c.99214C>G (p.Gln33072Glu) c.80830C>G (p.Gln26944Glu) c.102325C>G (p.Gln34109Glu) c.102322C>G (p.Gln34108Glu) c.101755C>G (p.Gln33919Glu) c.99097C>G (p.Gln33033Glu) c.99016C>G (p.Gln33006Glu) c.80779C>G (p.Gln26927Glu) c.70633C>G (p.Gln23545Glu) | |
2 | g.178527104G>T | CA349398517 | TTN,TTN-AS1 | c.100180C>A (p.Gln33394Lys) c.81265C>A (p.Gln27089Lys) c.81064C>A (p.Gln27022Lys) c.80689C>A (p.Gln26897Lys) c.107884C>A (p.Gln35962Lys) c.102961C>A (p.Gln34321Lys) n.446+3468G>T n.219+3468G>T c.106981C>A (p.Gln35661Lys) c.80875C>A (p.Gln26959Lys) c.80734C>A (p.Gln26912Lys) c.106777C>A (p.Gln35593Lys) c.102175C>A (p.Gln34059Lys) c.102172C>A (p.Gln34058Lys) c.99214C>A (p.Gln33072Lys) c.80830C>A (p.Gln26944Lys) c.102325C>A (p.Gln34109Lys) c.102322C>A (p.Gln34108Lys) c.101755C>A (p.Gln33919Lys) c.99097C>A (p.Gln33033Lys) c.99016C>A (p.Gln33006Lys) c.80779C>A (p.Gln26927Lys) c.70633C>A (p.Gln23545Lys) | gnomAD v4 |
2 | g.178527105T>A | CA430091705 | TTN,TTN-AS1 | c.100179A>T (p.Val33393=) c.81264A>T (p.Val27088=) c.81063A>T (p.Val27021=) c.80688A>T (p.Val26896=) c.107883A>T (p.Val35961=) c.102960A>T (p.Val34320=) n.446+3469T>A n.219+3469T>A c.106980A>T (p.Val35660=) c.80874A>T (p.Val26958=) c.80733A>T (p.Val26911=) c.106776A>T (p.Val35592=) c.102174A>T (p.Val34058=) c.102171A>T (p.Val34057=) c.99213A>T (p.Val33071=) c.80829A>T (p.Val26943=) c.102324A>T (p.Val34108=) c.102321A>T (p.Val34107=) c.101754A>T (p.Val33918=) c.99096A>T (p.Val33032=) c.99015A>T (p.Val33005=) c.80778A>T (p.Val26926=) c.70632A>T (p.Val23544=) | |
2 | g.178527105T>C | CA430091706 | TTN,TTN-AS1 | c.100179A>G (p.Val33393=) c.81264A>G (p.Val27088=) c.81063A>G (p.Val27021=) c.80688A>G (p.Val26896=) c.107883A>G (p.Val35961=) c.102960A>G (p.Val34320=) n.446+3469T>C n.219+3469T>C c.106980A>G (p.Val35660=) c.80874A>G (p.Val26958=) c.80733A>G (p.Val26911=) c.106776A>G (p.Val35592=) c.102174A>G (p.Val34058=) c.102171A>G (p.Val34057=) c.99213A>G (p.Val33071=) c.80829A>G (p.Val26943=) c.102324A>G (p.Val34108=) c.102321A>G (p.Val34107=) c.101754A>G (p.Val33918=) c.99096A>G (p.Val33032=) c.99015A>G (p.Val33005=) c.80778A>G (p.Val26926=) c.70632A>G (p.Val23544=) | ClinVar |
2 | g.178527105T>G | CA430091707 | TTN,TTN-AS1 | c.100179A>C (p.Val33393=) c.81264A>C (p.Val27088=) c.81063A>C (p.Val27021=) c.80688A>C (p.Val26896=) c.107883A>C (p.Val35961=) c.102960A>C (p.Val34320=) n.446+3469T>G n.219+3469T>G c.106980A>C (p.Val35660=) c.80874A>C (p.Val26958=) c.80733A>C (p.Val26911=) c.106776A>C (p.Val35592=) c.102174A>C (p.Val34058=) c.102171A>C (p.Val34057=) c.99213A>C (p.Val33071=) c.80829A>C (p.Val26943=) c.102324A>C (p.Val34108=) c.102321A>C (p.Val34107=) c.101754A>C (p.Val33918=) c.99096A>C (p.Val33032=) c.99015A>C (p.Val33005=) c.80778A>C (p.Val26926=) c.70632A>C (p.Val23544=) |