Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178780009_178780021delinsTACATAAGTTCTG | CA1310618999 | TTN | c.3708_3720delinsCAGAACTTATGTA (p.Val1236=) c.3570_3582delinsCAGAACTTATGTA (p.Val1190=) c.3756_3768delinsCAGAACTTATGTA (p.Val1252=) c.3615_3627delinsCAGAACTTATGTA (p.Val1205=) c.3753_3765delinsCAGAACTTATGTA (p.Val1251=) c.3711_3723delinsCAGAACTTATGTA (p.Val1237=) | |
2 | g.178780010A= | CA1310619001 | TTN | c.3719T= (p.Val1240=) c.3581T= (p.Val1194=) c.3767T= (p.Val1256=) c.3626T= (p.Val1209=) c.3764T= (p.Val1255=) c.3722T= (p.Val1241=) | |
2 | g.178780010A>C | CA349481860 | TTN | c.3719T>G (p.Val1240Gly) c.3581T>G (p.Val1194Gly) c.3767T>G (p.Val1256Gly) c.3626T>G (p.Val1209Gly) c.3764T>G (p.Val1255Gly) c.3722T>G (p.Val1241Gly) | |
2 | g.178780010A>G | CA2005496 | TTN | c.3719T>C (p.Val1240Ala) c.3581T>C (p.Val1194Ala) c.3767T>C (p.Val1256Ala) c.3626T>C (p.Val1209Ala) c.3764T>C (p.Val1255Ala) c.3722T>C (p.Val1241Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178780010A>T | CA349481861 | TTN | c.3719T>A (p.Val1240Glu) c.3581T>A (p.Val1194Glu) c.3767T>A (p.Val1256Glu) c.3626T>A (p.Val1209Glu) c.3764T>A (p.Val1255Glu) c.3722T>A (p.Val1241Glu) | |
2 | g.178780012_178780023del | CA538094648 | TTN | c.3708_3719del (p.Arg1237_Val1240del) c.3570_3581del (p.Arg1191_Val1194del) c.3756_3767del (p.Arg1253_Val1256del) c.3615_3626del (p.Arg1206_Val1209del) c.3753_3764del (p.Arg1252_Val1255del) c.3711_3722del (p.Arg1238_Val1241del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178780011C>A | CA349481862 | TTN | c.3718G>T (p.Val1240Leu) c.3580G>T (p.Val1194Leu) c.3766G>T (p.Val1256Leu) c.3625G>T (p.Val1209Leu) c.3763G>T (p.Val1255Leu) c.3721G>T (p.Val1241Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178780011C= | CA1310619002 | TTN | c.3718G= (p.Val1240=) c.3580G= (p.Val1194=) c.3766G= (p.Val1256=) c.3625G= (p.Val1209=) c.3763G= (p.Val1255=) c.3721G= (p.Val1241=) | |
2 | g.178780011C>G | CA349481863 | TTN | c.3718G>C (p.Val1240Leu) c.3580G>C (p.Val1194Leu) c.3766G>C (p.Val1256Leu) c.3625G>C (p.Val1209Leu) c.3763G>C (p.Val1255Leu) c.3721G>C (p.Val1241Leu) | |
2 | g.178780011C>T | CA349481864 | TTN | c.3718G>A (p.Val1240Ile) c.3580G>A (p.Val1194Ile) c.3766G>A (p.Val1256Ile) c.3625G>A (p.Val1209Ile) c.3763G>A (p.Val1255Ile) c.3721G>A (p.Val1241Ile) | gnomAD v4 |
2 | g.178780011_178780012insG | CA60979809 | TTN | c.3717_3718insC (p.Val1240ArgfsTer12) c.3579_3580insC (p.Val1194ArgfsTer12) c.3765_3766insC (p.Val1256ArgfsTer12) c.3624_3625insC (p.Val1209ArgfsTer12) c.3762_3763insC (p.Val1255ArgfsTer12) c.3720_3721insC (p.Val1241ArgfsTer12) | dbSNP |
2 | g.178780012A= | CA1310619003 | TTN | c.3717T= (p.Tyr1239=) c.3579T= (p.Tyr1193=) c.3765T= (p.Tyr1255=) c.3624T= (p.Tyr1208=) c.3762T= (p.Tyr1254=) c.3720T= (p.Tyr1240=) | |
2 | g.178780012A>C | CA349481865 | TTN | c.3717T>G (p.Tyr1239Ter) c.3579T>G (p.Tyr1193Ter) c.3765T>G (p.Tyr1255Ter) c.3624T>G (p.Tyr1208Ter) c.3762T>G (p.Tyr1254Ter) c.3720T>G (p.Tyr1240Ter) | ClinVar |
2 | g.178780012A>G | CA2005497 | TTN | c.3717T>C (p.Tyr1239=) c.3579T>C (p.Tyr1193=) c.3765T>C (p.Tyr1255=) c.3624T>C (p.Tyr1208=) c.3762T>C (p.Tyr1254=) c.3720T>C (p.Tyr1240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178780012A>T | CA349481866 | TTN | c.3717T>A (p.Tyr1239Ter) c.3579T>A (p.Tyr1193Ter) c.3765T>A (p.Tyr1255Ter) c.3624T>A (p.Tyr1208Ter) c.3762T>A (p.Tyr1254Ter) c.3720T>A (p.Tyr1240Ter) | |
2 | g.178780013T>A | CA349481882 | TTN | c.3716A>T (p.Tyr1239Phe) c.3578A>T (p.Tyr1193Phe) c.3764A>T (p.Tyr1255Phe) c.3623A>T (p.Tyr1208Phe) c.3761A>T (p.Tyr1254Phe) c.3719A>T (p.Tyr1240Phe) | |
2 | g.178780013T>C | CA349481867 | TTN | c.3716A>G (p.Tyr1239Cys) c.3578A>G (p.Tyr1193Cys) c.3764A>G (p.Tyr1255Cys) c.3623A>G (p.Tyr1208Cys) c.3761A>G (p.Tyr1254Cys) c.3719A>G (p.Tyr1240Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178780013T>G | CA311269 | TTN | c.3716A>C (p.Tyr1239Ser) c.3578A>C (p.Tyr1193Ser) c.3764A>C (p.Tyr1255Ser) c.3623A>C (p.Tyr1208Ser) c.3761A>C (p.Tyr1254Ser) c.3719A>C (p.Tyr1240Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178780013T= | CA1310619004 | TTN | c.3716A= (p.Tyr1239=) c.3578A= (p.Tyr1193=) c.3764A= (p.Tyr1255=) c.3623A= (p.Tyr1208=) c.3761A= (p.Tyr1254=) c.3719A= (p.Tyr1240=) | |
2 | g.178780014A>C | CA349481887 | TTN | c.3715T>G (p.Tyr1239Asp) c.3577T>G (p.Tyr1193Asp) c.3763T>G (p.Tyr1255Asp) c.3622T>G (p.Tyr1208Asp) c.3760T>G (p.Tyr1254Asp) c.3718T>G (p.Tyr1240Asp) | |
2 | g.178780014A>G | CA349481894 | TTN | c.3715T>C (p.Tyr1239His) c.3577T>C (p.Tyr1193His) c.3763T>C (p.Tyr1255His) c.3622T>C (p.Tyr1208His) c.3760T>C (p.Tyr1254His) c.3718T>C (p.Tyr1240His) | |
2 | g.178780014A>T | CA349481890 | TTN | c.3715T>A (p.Tyr1239Asn) c.3577T>A (p.Tyr1193Asn) c.3763T>A (p.Tyr1255Asn) c.3622T>A (p.Tyr1208Asn) c.3760T>A (p.Tyr1254Asn) c.3718T>A (p.Tyr1240Asn) | |
2 | g.178780015A>C | CA430108689 | TTN | c.3714T>G (p.Thr1238=) c.3576T>G (p.Thr1192=) c.3762T>G (p.Thr1254=) c.3621T>G (p.Thr1207=) c.3759T>G (p.Thr1253=) c.3717T>G (p.Thr1239=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178780015A>G | CA430108691 | TTN | c.3714T>C (p.Thr1238=) c.3576T>C (p.Thr1192=) c.3762T>C (p.Thr1254=) c.3621T>C (p.Thr1207=) c.3759T>C (p.Thr1253=) c.3717T>C (p.Thr1239=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178780015A>T | CA430108693 | TTN | c.3714T>A (p.Thr1238=) c.3576T>A (p.Thr1192=) c.3762T>A (p.Thr1254=) c.3621T>A (p.Thr1207=) c.3759T>A (p.Thr1253=) c.3717T>A (p.Thr1239=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178780016G>A | CA349481897 | TTN | c.3713C>T (p.Thr1238Ile) c.3575C>T (p.Thr1192Ile) c.3761C>T (p.Thr1254Ile) c.3620C>T (p.Thr1207Ile) c.3758C>T (p.Thr1253Ile) c.3716C>T (p.Thr1239Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178780016G>C | CA2005499 | TTN | c.3713C>G (p.Thr1238Ser) c.3575C>G (p.Thr1192Ser) c.3761C>G (p.Thr1254Ser) c.3620C>G (p.Thr1207Ser) c.3758C>G (p.Thr1253Ser) c.3716C>G (p.Thr1239Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178780016G= | CA1310619005 | TTN | c.3713C= (p.Thr1238=) c.3575C= (p.Thr1192=) c.3761C= (p.Thr1254=) c.3620C= (p.Thr1207=) c.3758C= (p.Thr1253=) c.3716C= (p.Thr1239=) | |
2 | g.178780016G>T | CA2005498 | TTN | c.3713C>A (p.Thr1238Asn) c.3575C>A (p.Thr1192Asn) c.3761C>A (p.Thr1254Asn) c.3620C>A (p.Thr1207Asn) c.3758C>A (p.Thr1253Asn) c.3716C>A (p.Thr1239Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178780017T>A | CA349481909 | TTN | c.3712A>T (p.Thr1238Ser) c.3574A>T (p.Thr1192Ser) c.3760A>T (p.Thr1254Ser) c.3619A>T (p.Thr1207Ser) c.3757A>T (p.Thr1253Ser) c.3715A>T (p.Thr1239Ser) | |
2 | g.178780017T>C | CA349481913 | TTN | c.3712A>G (p.Thr1238Ala) c.3574A>G (p.Thr1192Ala) c.3760A>G (p.Thr1254Ala) c.3619A>G (p.Thr1207Ala) c.3757A>G (p.Thr1253Ala) c.3715A>G (p.Thr1239Ala) | |
2 | g.178780017T>G | CA349481915 | TTN | c.3712A>C (p.Thr1238Pro) c.3574A>C (p.Thr1192Pro) c.3760A>C (p.Thr1254Pro) c.3619A>C (p.Thr1207Pro) c.3757A>C (p.Thr1253Pro) c.3715A>C (p.Thr1239Pro) | COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178780018T>A | CA349481931 | TTN | c.3711A>T (p.Arg1237Ser) c.3573A>T (p.Arg1191Ser) c.3759A>T (p.Arg1253Ser) c.3618A>T (p.Arg1206Ser) c.3756A>T (p.Arg1252Ser) c.3714A>T (p.Arg1238Ser) | |
2 | g.178780018T>C | CA430108705 | TTN | c.3711A>G (p.Arg1237=) c.3573A>G (p.Arg1191=) c.3759A>G (p.Arg1253=) c.3618A>G (p.Arg1206=) c.3756A>G (p.Arg1252=) c.3714A>G (p.Arg1238=) | |
2 | g.178780018T>G | CA349481935 | TTN | c.3711A>C (p.Arg1237Ser) c.3573A>C (p.Arg1191Ser) c.3759A>C (p.Arg1253Ser) c.3618A>C (p.Arg1206Ser) c.3756A>C (p.Arg1252Ser) c.3714A>C (p.Arg1238Ser) | |
2 | g.178780019C>A | CA349481938 | TTN | c.3710G>T (p.Arg1237Ile) c.3572G>T (p.Arg1191Ile) c.3758G>T (p.Arg1253Ile) c.3617G>T (p.Arg1206Ile) c.3755G>T (p.Arg1252Ile) c.3713G>T (p.Arg1238Ile) | COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178780019C>G | CA349481937 | TTN | c.3710G>C (p.Arg1237Thr) c.3572G>C (p.Arg1191Thr) c.3758G>C (p.Arg1253Thr) c.3617G>C (p.Arg1206Thr) c.3755G>C (p.Arg1252Thr) c.3713G>C (p.Arg1238Thr) | |
2 | g.178780019C>T | CA349481936 | TTN | c.3710G>A (p.Arg1237Lys) c.3572G>A (p.Arg1191Lys) c.3758G>A (p.Arg1253Lys) c.3617G>A (p.Arg1206Lys) c.3755G>A (p.Arg1252Lys) c.3713G>A (p.Arg1238Lys) | |
2 | g.178780020T>A | CA349481940 | TTN | c.3709A>T (p.Arg1237Ter) c.3571A>T (p.Arg1191Ter) c.3757A>T (p.Arg1253Ter) c.3616A>T (p.Arg1206Ter) c.3754A>T (p.Arg1252Ter) c.3712A>T (p.Arg1238Ter) | gnomAD v4 |
2 | g.178780020T>C | CA349481943 | TTN | c.3709A>G (p.Arg1237Gly) c.3571A>G (p.Arg1191Gly) c.3757A>G (p.Arg1253Gly) c.3616A>G (p.Arg1206Gly) c.3754A>G (p.Arg1252Gly) c.3712A>G (p.Arg1238Gly) | gnomAD v4 |
2 | g.178780020T>G | CA430108709 | TTN | c.3709A>C (p.Arg1237=) c.3571A>C (p.Arg1191=) c.3757A>C (p.Arg1253=) c.3616A>C (p.Arg1206=) c.3754A>C (p.Arg1252=) c.3712A>C (p.Arg1238=) | |
2 | g.178780021G>A | CA2005500 | TTN | c.3708C>T (p.Val1236=) c.3570C>T (p.Val1190=) c.3756C>T (p.Val1252=) c.3615C>T (p.Val1205=) c.3753C>T (p.Val1251=) c.3711C>T (p.Val1237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178780021G>C | CA430108712 | TTN | c.3708C>G (p.Val1236=) c.3570C>G (p.Val1190=) c.3756C>G (p.Val1252=) c.3615C>G (p.Val1205=) c.3753C>G (p.Val1251=) c.3711C>G (p.Val1237=) | |
2 | g.178780021G= | CA1310619006 | TTN | c.3708C= (p.Val1236=) c.3570C= (p.Val1190=) c.3756C= (p.Val1252=) c.3615C= (p.Val1205=) c.3753C= (p.Val1251=) c.3711C= (p.Val1237=) | |
2 | g.178780021G>T | CA430108714 | TTN | c.3708C>A (p.Val1236=) c.3570C>A (p.Val1190=) c.3756C>A (p.Val1252=) c.3615C>A (p.Val1205=) c.3753C>A (p.Val1251=) c.3711C>A (p.Val1237=) | gnomAD v4 |
2 | g.178780022A>C | CA349481949 | TTN | c.3707T>G (p.Val1236Gly) c.3569T>G (p.Val1190Gly) c.3755T>G (p.Val1252Gly) c.3614T>G (p.Val1205Gly) c.3752T>G (p.Val1251Gly) c.3710T>G (p.Val1237Gly) | |
2 | g.178780022A>G | CA349481951 | TTN | c.3707T>C (p.Val1236Ala) c.3569T>C (p.Val1190Ala) c.3755T>C (p.Val1252Ala) c.3614T>C (p.Val1205Ala) c.3752T>C (p.Val1251Ala) c.3710T>C (p.Val1237Ala) | |
2 | g.178780022A>T | CA349481954 | TTN | c.3707T>A (p.Val1236Asp) c.3569T>A (p.Val1190Asp) c.3755T>A (p.Val1252Asp) c.3614T>A (p.Val1205Asp) c.3752T>A (p.Val1251Asp) c.3710T>A (p.Val1237Asp) | |
2 | g.178780023C>A | CA349481967 | TTN | c.3706G>T (p.Val1236Phe) c.3568G>T (p.Val1190Phe) c.3754G>T (p.Val1252Phe) c.3613G>T (p.Val1205Phe) c.3751G>T (p.Val1251Phe) c.3709G>T (p.Val1237Phe) | |
2 | g.178780023C>G | CA349481975 | TTN | c.3706G>C (p.Val1236Leu) c.3568G>C (p.Val1190Leu) c.3754G>C (p.Val1252Leu) c.3613G>C (p.Val1205Leu) c.3751G>C (p.Val1251Leu) c.3709G>C (p.Val1237Leu) |