| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178740731_178740836dup | CA2662152958 | TTN | c.10361-2473_10361-2368dup (n.10361-2473_10361-2368dup) c.11887_11992dup (p.Pro3998HisfsTer37) c.11686_11791dup (p.Pro3931HisfsTer37) c.11311_11416dup (p.Pro3806HisfsTer37) c.12400_12505dup (p.Pro4169HisfsTer37) c.11449_11554dup (p.Pro3852HisfsTer37) c.11497_11602dup (p.Pro3868HisfsTer37) c.11356_11461dup (p.Pro3821HisfsTer37) c.11452_11557dup (p.Pro3853HisfsTer37) c.10364-2473_10364-2368dup (n.10364-2473_10364-2368dup) | gnomAD v4 |
| 2 | g.178740728_178740836dup | CA658657179 | TTN | c.10361-2476_10361-2368dup (n.10361-2476_10361-2368dup) c.11884_11992dup (p.Pro3998LeufsTer38) c.11683_11791dup (p.Pro3931LeufsTer38) c.11308_11416dup (p.Pro3806LeufsTer38) c.12397_12505dup (p.Pro4169LeufsTer38) c.11446_11554dup (p.Pro3852LeufsTer38) c.11494_11602dup (p.Pro3868LeufsTer38) c.11353_11461dup (p.Pro3821LeufsTer38) c.11449_11557dup (p.Pro3853LeufsTer38) c.10364-2476_10364-2368dup (n.10364-2476_10364-2368dup) | ClinVar dbSNP |
| 2 | g.178740826C>A | CA349615243 | TTN | c.10361-2466G>T (n.10361-2466G>T) c.11894G>T (p.Gly3965Val) c.11693G>T (p.Gly3898Val) c.11318G>T (p.Gly3773Val) c.12407G>T (p.Gly4136Val) c.11456G>T (p.Gly3819Val) c.11504G>T (p.Gly3835Val) c.11363G>T (p.Gly3788Val) c.11459G>T (p.Gly3820Val) c.10364-2466G>T (n.10364-2466G>T) | |
| 2 | g.178740826C= | CA1310601710 | TTN | c.10361-2466G= (n.10361-2466G=) c.11894G= (p.Gly3965=) c.11693G= (p.Gly3898=) c.11318G= (p.Gly3773=) c.12407G= (p.Gly4136=) c.11456G= (p.Gly3819=) c.11504G= (p.Gly3835=) c.11363G= (p.Gly3788=) c.11459G= (p.Gly3820=) c.10364-2466G= (n.10364-2466G=) | |
| 2 | g.178740826C>G | CA349615245 | TTN | c.10361-2466G>C (n.10361-2466G>C) c.11894G>C (p.Gly3965Ala) c.11693G>C (p.Gly3898Ala) c.11318G>C (p.Gly3773Ala) c.12407G>C (p.Gly4136Ala) c.11456G>C (p.Gly3819Ala) c.11504G>C (p.Gly3835Ala) c.11363G>C (p.Gly3788Ala) c.11459G>C (p.Gly3820Ala) c.10364-2466G>C (n.10364-2466G>C) | |
| 2 | g.178740826C>T | CA349615247 | TTN | c.10361-2466G>A (n.10361-2466G>A) c.11894G>A (p.Gly3965Asp) c.11693G>A (p.Gly3898Asp) c.11318G>A (p.Gly3773Asp) c.12407G>A (p.Gly4136Asp) c.11456G>A (p.Gly3819Asp) c.11504G>A (p.Gly3835Asp) c.11363G>A (p.Gly3788Asp) c.11459G>A (p.Gly3820Asp) c.10364-2466G>A (n.10364-2466G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178740827C>A | CA349615248 | TTN | c.10361-2467G>T (n.10361-2467G>T) c.11893G>T (p.Gly3965Cys) c.11692G>T (p.Gly3898Cys) c.11317G>T (p.Gly3773Cys) c.12406G>T (p.Gly4136Cys) c.11455G>T (p.Gly3819Cys) c.11503G>T (p.Gly3835Cys) c.11362G>T (p.Gly3788Cys) c.11458G>T (p.Gly3820Cys) c.10364-2467G>T (n.10364-2467G>T) | |
| 2 | g.178740827C>G | CA349615250 | TTN | c.10361-2467G>C (n.10361-2467G>C) c.11893G>C (p.Gly3965Arg) c.11692G>C (p.Gly3898Arg) c.11317G>C (p.Gly3773Arg) c.12406G>C (p.Gly4136Arg) c.11455G>C (p.Gly3819Arg) c.11503G>C (p.Gly3835Arg) c.11362G>C (p.Gly3788Arg) c.11458G>C (p.Gly3820Arg) c.10364-2467G>C (n.10364-2467G>C) | |
| 2 | g.178740827C>T | CA349615252 | TTN | c.10361-2467G>A (n.10361-2467G>A) c.11893G>A (p.Gly3965Ser) c.11692G>A (p.Gly3898Ser) c.11317G>A (p.Gly3773Ser) c.12406G>A (p.Gly4136Ser) c.11455G>A (p.Gly3819Ser) c.11503G>A (p.Gly3835Ser) c.11362G>A (p.Gly3788Ser) c.11458G>A (p.Gly3820Ser) c.10364-2467G>A (n.10364-2467G>A) | |
| 2 | g.178740827_178740828delinsCA | CA1310601713 | TTN | c.10361-2468_10361-2467delinsTG (n.10361-2468_10361-2467delinsTG) c.11892_11893delinsTG (p.Asn3964=) c.11691_11692delinsTG (p.Asn3897=) c.11316_11317delinsTG (p.Asn3772=) c.12405_12406delinsTG (p.Asn4135=) c.11454_11455delinsTG (p.Asn3818=) c.11502_11503delinsTG (p.Asn3834=) c.11361_11362delinsTG (p.Asn3787=) c.11457_11458delinsTG (p.Asn3819=) c.10364-2468_10364-2467delinsTG (n.10364-2468_10364-2467delinsTG) | |
| 2 | g.178740828del | CA273279 | TTN | c.10361-2468del (n.10361-2468del) c.11892del (p.Asn3964LysfsTer?) c.11691del (p.Asn3897LysfsTer?) c.11316del (p.Asn3772LysfsTer?) c.12405del (p.Asn4135LysfsTer?) c.11454del (p.Asn3818LysfsTer?) c.11502del (p.Asn3834LysfsTer?) c.11361del (p.Asn3787LysfsTer?) c.11457del (p.Asn3819LysfsTer?) c.10364-2468del (n.10364-2468del) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178740828A= | CA1310601717 | TTN | c.10361-2468T= (n.10361-2468T=) c.11892T= (p.Asn3964=) c.11691T= (p.Asn3897=) c.11316T= (p.Asn3772=) c.12405T= (p.Asn4135=) c.11454T= (p.Asn3818=) c.11502T= (p.Asn3834=) c.11361T= (p.Asn3787=) c.11457T= (p.Asn3819=) c.10364-2468T= (n.10364-2468T=) | |
| 2 | g.178740828A>C | CA2002715 | TTN | c.10361-2468T>G (n.10361-2468T>G) c.11892T>G (p.Asn3964Lys) c.11691T>G (p.Asn3897Lys) c.11316T>G (p.Asn3772Lys) c.12405T>G (p.Asn4135Lys) c.11454T>G (p.Asn3818Lys) c.11502T>G (p.Asn3834Lys) c.11361T>G (p.Asn3787Lys) c.11457T>G (p.Asn3819Lys) c.10364-2468T>G (n.10364-2468T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178740828A>G | CA430296537 | TTN | c.10361-2468T>C (n.10361-2468T>C) c.11892T>C (p.Asn3964=) c.11691T>C (p.Asn3897=) c.11316T>C (p.Asn3772=) c.12405T>C (p.Asn4135=) c.11454T>C (p.Asn3818=) c.11502T>C (p.Asn3834=) c.11361T>C (p.Asn3787=) c.11457T>C (p.Asn3819=) c.10364-2468T>C (n.10364-2468T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178740828A>T | CA349615256 | TTN | c.10361-2468T>A (n.10361-2468T>A) c.11892T>A (p.Asn3964Lys) c.11691T>A (p.Asn3897Lys) c.11316T>A (p.Asn3772Lys) c.12405T>A (p.Asn4135Lys) c.11454T>A (p.Asn3818Lys) c.11502T>A (p.Asn3834Lys) c.11361T>A (p.Asn3787Lys) c.11457T>A (p.Asn3819Lys) c.10364-2468T>A (n.10364-2468T>A) | COSMIC COSMIC |
| 2 | g.178740829T>A | CA2002716 | TTN | c.10361-2469A>T (n.10361-2469A>T) c.11891A>T (p.Asn3964Ile) c.11690A>T (p.Asn3897Ile) c.11315A>T (p.Asn3772Ile) c.12404A>T (p.Asn4135Ile) c.11453A>T (p.Asn3818Ile) c.11501A>T (p.Asn3834Ile) c.11360A>T (p.Asn3787Ile) c.11456A>T (p.Asn3819Ile) c.10364-2469A>T (n.10364-2469A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178740829T>C | CA311737 | TTN | c.10361-2469A>G (n.10361-2469A>G) c.11891A>G (p.Asn3964Ser) c.11690A>G (p.Asn3897Ser) c.11315A>G (p.Asn3772Ser) c.12404A>G (p.Asn4135Ser) c.11453A>G (p.Asn3818Ser) c.11501A>G (p.Asn3834Ser) c.11360A>G (p.Asn3787Ser) c.11456A>G (p.Asn3819Ser) c.10364-2469A>G (n.10364-2469A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740829T>G | CA349615258 | TTN | c.10361-2469A>C (n.10361-2469A>C) c.11891A>C (p.Asn3964Thr) c.11690A>C (p.Asn3897Thr) c.11315A>C (p.Asn3772Thr) c.12404A>C (p.Asn4135Thr) c.11453A>C (p.Asn3818Thr) c.11501A>C (p.Asn3834Thr) c.11360A>C (p.Asn3787Thr) c.11456A>C (p.Asn3819Thr) c.10364-2469A>C (n.10364-2469A>C) | |
| 2 | g.178740829T= | CA1310601724 | TTN | c.10361-2469A= (n.10361-2469A=) c.11891A= (p.Asn3964=) c.11690A= (p.Asn3897=) c.11315A= (p.Asn3772=) c.12404A= (p.Asn4135=) c.11453A= (p.Asn3818=) c.11501A= (p.Asn3834=) c.11360A= (p.Asn3787=) c.11456A= (p.Asn3819=) c.10364-2469A= (n.10364-2469A=) | |
| 2 | g.178740830T>A | CA349615262 | TTN | c.10361-2470A>T (n.10361-2470A>T) c.11890A>T (p.Asn3964Tyr) c.11689A>T (p.Asn3897Tyr) c.11314A>T (p.Asn3772Tyr) c.12403A>T (p.Asn4135Tyr) c.11452A>T (p.Asn3818Tyr) c.11500A>T (p.Asn3834Tyr) c.11359A>T (p.Asn3787Tyr) c.11455A>T (p.Asn3819Tyr) c.10364-2470A>T (n.10364-2470A>T) | |
| 2 | g.178740830T>C | CA349615263 | TTN | c.10361-2470A>G (n.10361-2470A>G) c.11890A>G (p.Asn3964Asp) c.11689A>G (p.Asn3897Asp) c.11314A>G (p.Asn3772Asp) c.12403A>G (p.Asn4135Asp) c.11452A>G (p.Asn3818Asp) c.11500A>G (p.Asn3834Asp) c.11359A>G (p.Asn3787Asp) c.11455A>G (p.Asn3819Asp) c.10364-2470A>G (n.10364-2470A>G) | gnomAD v4 |
| 2 | g.178740830T>G | CA349615265 | TTN | c.10361-2470A>C (n.10361-2470A>C) c.11890A>C (p.Asn3964His) c.11689A>C (p.Asn3897His) c.11314A>C (p.Asn3772His) c.12403A>C (p.Asn4135His) c.11452A>C (p.Asn3818His) c.11500A>C (p.Asn3834His) c.11359A>C (p.Asn3787His) c.11455A>C (p.Asn3819His) c.10364-2470A>C (n.10364-2470A>C) | |
| 2 | g.178740831G>A | CA430296539 | TTN | c.10361-2471C>T (n.10361-2471C>T) c.11889C>T (p.Ile3963=) c.11688C>T (p.Ile3896=) c.11313C>T (p.Ile3771=) c.12402C>T (p.Ile4134=) c.11451C>T (p.Ile3817=) c.11499C>T (p.Ile3833=) c.11358C>T (p.Ile3786=) c.11454C>T (p.Ile3818=) c.10364-2471C>T (n.10364-2471C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740831G>C | CA349615267 | TTN | c.10361-2471C>G (n.10361-2471C>G) c.11889C>G (p.Ile3963Met) c.11688C>G (p.Ile3896Met) c.11313C>G (p.Ile3771Met) c.12402C>G (p.Ile4134Met) c.11451C>G (p.Ile3817Met) c.11499C>G (p.Ile3833Met) c.11358C>G (p.Ile3786Met) c.11454C>G (p.Ile3818Met) c.10364-2471C>G (n.10364-2471C>G) | |
| 2 | g.178740831G= | CA1310601727 | TTN | c.10361-2471C= (n.10361-2471C=) c.11889C= (p.Ile3963=) c.11688C= (p.Ile3896=) c.11313C= (p.Ile3771=) c.12402C= (p.Ile4134=) c.11451C= (p.Ile3817=) c.11499C= (p.Ile3833=) c.11358C= (p.Ile3786=) c.11454C= (p.Ile3818=) c.10364-2471C= (n.10364-2471C=) | |
| 2 | g.178740831G>T | CA430296538 | TTN | c.10361-2471C>A (n.10361-2471C>A) c.11889C>A (p.Ile3963=) c.11688C>A (p.Ile3896=) c.11313C>A (p.Ile3771=) c.12402C>A (p.Ile4134=) c.11451C>A (p.Ile3817=) c.11499C>A (p.Ile3833=) c.11358C>A (p.Ile3786=) c.11454C>A (p.Ile3818=) c.10364-2471C>A (n.10364-2471C>A) | |
| 2 | g.178740832A= | CA1310601730 | TTN | c.10361-2472T= (n.10361-2472T=) c.11888T= (p.Ile3963=) c.11687T= (p.Ile3896=) c.11312T= (p.Ile3771=) c.12401T= (p.Ile4134=) c.11450T= (p.Ile3817=) c.11498T= (p.Ile3833=) c.11357T= (p.Ile3786=) c.11453T= (p.Ile3818=) c.10364-2472T= (n.10364-2472T=) | |
| 2 | g.178740832A>C | CA349615269 | TTN | c.10361-2472T>G (n.10361-2472T>G) c.11888T>G (p.Ile3963Ser) c.11687T>G (p.Ile3896Ser) c.11312T>G (p.Ile3771Ser) c.12401T>G (p.Ile4134Ser) c.11450T>G (p.Ile3817Ser) c.11498T>G (p.Ile3833Ser) c.11357T>G (p.Ile3786Ser) c.11453T>G (p.Ile3818Ser) c.10364-2472T>G (n.10364-2472T>G) | dbSNP gnomAD v4 |
| 2 | g.178740832A>G | CA349615271 | TTN | c.10361-2472T>C (n.10361-2472T>C) c.11888T>C (p.Ile3963Thr) c.11687T>C (p.Ile3896Thr) c.11312T>C (p.Ile3771Thr) c.12401T>C (p.Ile4134Thr) c.11450T>C (p.Ile3817Thr) c.11498T>C (p.Ile3833Thr) c.11357T>C (p.Ile3786Thr) c.11453T>C (p.Ile3818Thr) c.10364-2472T>C (n.10364-2472T>C) | |
| 2 | g.178740832A>T | CA179032 | TTN | c.10361-2472T>A (n.10361-2472T>A) c.11888T>A (p.Ile3963Asn) c.11687T>A (p.Ile3896Asn) c.11312T>A (p.Ile3771Asn) c.12401T>A (p.Ile4134Asn) c.11450T>A (p.Ile3817Asn) c.11498T>A (p.Ile3833Asn) c.11357T>A (p.Ile3786Asn) c.11453T>A (p.Ile3818Asn) c.10364-2472T>A (n.10364-2472T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740833T>A | CA349615274 | TTN | c.10361-2473A>T (n.10361-2473A>T) c.11887A>T (p.Ile3963Phe) c.11686A>T (p.Ile3896Phe) c.11311A>T (p.Ile3771Phe) c.12400A>T (p.Ile4134Phe) c.11449A>T (p.Ile3817Phe) c.11497A>T (p.Ile3833Phe) c.11356A>T (p.Ile3786Phe) c.11452A>T (p.Ile3818Phe) c.10364-2473A>T (n.10364-2473A>T) | |
| 2 | g.178740833T>C | CA349615275 | TTN | c.10361-2473A>G (n.10361-2473A>G) c.11887A>G (p.Ile3963Val) c.11686A>G (p.Ile3896Val) c.11311A>G (p.Ile3771Val) c.12400A>G (p.Ile4134Val) c.11449A>G (p.Ile3817Val) c.11497A>G (p.Ile3833Val) c.11356A>G (p.Ile3786Val) c.11452A>G (p.Ile3818Val) c.10364-2473A>G (n.10364-2473A>G) | |
| 2 | g.178740833T>G | CA349615277 | TTN | c.10361-2473A>C (n.10361-2473A>C) c.11887A>C (p.Ile3963Leu) c.11686A>C (p.Ile3896Leu) c.11311A>C (p.Ile3771Leu) c.12400A>C (p.Ile4134Leu) c.11449A>C (p.Ile3817Leu) c.11497A>C (p.Ile3833Leu) c.11356A>C (p.Ile3786Leu) c.11452A>C (p.Ile3818Leu) c.10364-2473A>C (n.10364-2473A>C) | |
| 2 | g.178740834G>A | CA2002717 | TTN | c.10361-2474C>T (n.10361-2474C>T) c.11886C>T (p.Cys3962=) c.11685C>T (p.Cys3895=) c.11310C>T (p.Cys3770=) c.12399C>T (p.Cys4133=) c.11448C>T (p.Cys3816=) c.11496C>T (p.Cys3832=) c.11355C>T (p.Cys3785=) c.11451C>T (p.Cys3817=) c.10364-2474C>T (n.10364-2474C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740834G>C | CA349615280 | TTN | c.10361-2474C>G (n.10361-2474C>G) c.11886C>G (p.Cys3962Trp) c.11685C>G (p.Cys3895Trp) c.11310C>G (p.Cys3770Trp) c.12399C>G (p.Cys4133Trp) c.11448C>G (p.Cys3816Trp) c.11496C>G (p.Cys3832Trp) c.11355C>G (p.Cys3785Trp) c.11451C>G (p.Cys3817Trp) c.10364-2474C>G (n.10364-2474C>G) | |
| 2 | g.178740834G= | CA1310601732 | TTN | c.10361-2474C= (n.10361-2474C=) c.11886C= (p.Cys3962=) c.11685C= (p.Cys3895=) c.11310C= (p.Cys3770=) c.12399C= (p.Cys4133=) c.11448C= (p.Cys3816=) c.11496C= (p.Cys3832=) c.11355C= (p.Cys3785=) c.11451C= (p.Cys3817=) c.10364-2474C= (n.10364-2474C=) | |
| 2 | g.178740834G>T | CA349615281 | TTN | c.10361-2474C>A (n.10361-2474C>A) c.11886C>A (p.Cys3962Ter) c.11685C>A (p.Cys3895Ter) c.11310C>A (p.Cys3770Ter) c.12399C>A (p.Cys4133Ter) c.11448C>A (p.Cys3816Ter) c.11496C>A (p.Cys3832Ter) c.11355C>A (p.Cys3785Ter) c.11451C>A (p.Cys3817Ter) c.10364-2474C>A (n.10364-2474C>A) | |
| 2 | g.178740835C>A | CA2002718 | TTN | c.10361-2475G>T (n.10361-2475G>T) c.11885G>T (p.Cys3962Phe) c.11684G>T (p.Cys3895Phe) c.11309G>T (p.Cys3770Phe) c.12398G>T (p.Cys4133Phe) c.11447G>T (p.Cys3816Phe) c.11495G>T (p.Cys3832Phe) c.11354G>T (p.Cys3785Phe) c.11450G>T (p.Cys3817Phe) c.10364-2475G>T (n.10364-2475G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740835C= | CA1310601734 | TTN | c.10361-2475G= (n.10361-2475G=) c.11885G= (p.Cys3962=) c.11684G= (p.Cys3895=) c.11309G= (p.Cys3770=) c.12398G= (p.Cys4133=) c.11447G= (p.Cys3816=) c.11495G= (p.Cys3832=) c.11354G= (p.Cys3785=) c.11450G= (p.Cys3817=) c.10364-2475G= (n.10364-2475G=) | |
| 2 | g.178740835C>G | CA349615286 | TTN | c.10361-2475G>C (n.10361-2475G>C) c.11885G>C (p.Cys3962Ser) c.11684G>C (p.Cys3895Ser) c.11309G>C (p.Cys3770Ser) c.12398G>C (p.Cys4133Ser) c.11447G>C (p.Cys3816Ser) c.11495G>C (p.Cys3832Ser) c.11354G>C (p.Cys3785Ser) c.11450G>C (p.Cys3817Ser) c.10364-2475G>C (n.10364-2475G>C) | |
| 2 | g.178740835C>T | CA349615284 | TTN | c.10361-2475G>A (n.10361-2475G>A) c.11885G>A (p.Cys3962Tyr) c.11684G>A (p.Cys3895Tyr) c.11309G>A (p.Cys3770Tyr) c.12398G>A (p.Cys4133Tyr) c.11447G>A (p.Cys3816Tyr) c.11495G>A (p.Cys3832Tyr) c.11354G>A (p.Cys3785Tyr) c.11450G>A (p.Cys3817Tyr) c.10364-2475G>A (n.10364-2475G>A) | |
| 2 | g.178740836A>C | CA349615289 | TTN | c.10361-2476T>G (n.10361-2476T>G) c.11884T>G (p.Cys3962Gly) c.11683T>G (p.Cys3895Gly) c.11308T>G (p.Cys3770Gly) c.12397T>G (p.Cys4133Gly) c.11446T>G (p.Cys3816Gly) c.11494T>G (p.Cys3832Gly) c.11353T>G (p.Cys3785Gly) c.11449T>G (p.Cys3817Gly) c.10364-2476T>G (n.10364-2476T>G) | |
| 2 | g.178740836A>G | CA349615291 | TTN | c.10361-2476T>C (n.10361-2476T>C) c.11884T>C (p.Cys3962Arg) c.11683T>C (p.Cys3895Arg) c.11308T>C (p.Cys3770Arg) c.12397T>C (p.Cys4133Arg) c.11446T>C (p.Cys3816Arg) c.11494T>C (p.Cys3832Arg) c.11353T>C (p.Cys3785Arg) c.11449T>C (p.Cys3817Arg) c.10364-2476T>C (n.10364-2476T>C) | |
| 2 | g.178740836A>T | CA349615292 | TTN | c.10361-2476T>A (n.10361-2476T>A) c.11884T>A (p.Cys3962Ser) c.11683T>A (p.Cys3895Ser) c.11308T>A (p.Cys3770Ser) c.12397T>A (p.Cys4133Ser) c.11446T>A (p.Cys3816Ser) c.11494T>A (p.Cys3832Ser) c.11353T>A (p.Cys3785Ser) c.11449T>A (p.Cys3817Ser) c.10364-2476T>A (n.10364-2476T>A) | |
| 2 | g.178740837A>C | CA430296543 | TTN | c.10361-2477T>G (n.10361-2477T>G) c.11883T>G (p.Leu3961=) c.11682T>G (p.Leu3894=) c.11307T>G (p.Leu3769=) c.12396T>G (p.Leu4132=) c.11445T>G (p.Leu3815=) c.11493T>G (p.Leu3831=) c.11352T>G (p.Leu3784=) c.11448T>G (p.Leu3816=) c.10364-2477T>G (n.10364-2477T>G) | |
| 2 | g.178740837A>G | CA430296544 | TTN | c.10361-2477T>C (n.10361-2477T>C) c.11883T>C (p.Leu3961=) c.11682T>C (p.Leu3894=) c.11307T>C (p.Leu3769=) c.12396T>C (p.Leu4132=) c.11445T>C (p.Leu3815=) c.11493T>C (p.Leu3831=) c.11352T>C (p.Leu3784=) c.11448T>C (p.Leu3816=) c.10364-2477T>C (n.10364-2477T>C) | |
| 2 | g.178740837A>T | CA430296545 | TTN | c.10361-2477T>A (n.10361-2477T>A) c.11883T>A (p.Leu3961=) c.11682T>A (p.Leu3894=) c.11307T>A (p.Leu3769=) c.12396T>A (p.Leu4132=) c.11445T>A (p.Leu3815=) c.11493T>A (p.Leu3831=) c.11352T>A (p.Leu3784=) c.11448T>A (p.Leu3816=) c.10364-2477T>A (n.10364-2477T>A) | |
| 2 | g.178740838A>C | CA349615295 | TTN | c.10361-2478T>G (n.10361-2478T>G) c.11882T>G (p.Leu3961Arg) c.11681T>G (p.Leu3894Arg) c.11306T>G (p.Leu3769Arg) c.12395T>G (p.Leu4132Arg) c.11444T>G (p.Leu3815Arg) c.11492T>G (p.Leu3831Arg) c.11351T>G (p.Leu3784Arg) c.11447T>G (p.Leu3816Arg) c.10364-2478T>G (n.10364-2478T>G) | |
| 2 | g.178740838A>G | CA349615296 | TTN | c.10361-2478T>C (n.10361-2478T>C) c.11882T>C (p.Leu3961Pro) c.11681T>C (p.Leu3894Pro) c.11306T>C (p.Leu3769Pro) c.12395T>C (p.Leu4132Pro) c.11444T>C (p.Leu3815Pro) c.11492T>C (p.Leu3831Pro) c.11351T>C (p.Leu3784Pro) c.11447T>C (p.Leu3816Pro) c.10364-2478T>C (n.10364-2478T>C) | |
| 2 | g.178740838A>T | CA349615298 | TTN | c.10361-2478T>A (n.10361-2478T>A) c.11882T>A (p.Leu3961His) c.11681T>A (p.Leu3894His) c.11306T>A (p.Leu3769His) c.12395T>A (p.Leu4132His) c.11444T>A (p.Leu3815His) c.11492T>A (p.Leu3831His) c.11351T>A (p.Leu3784His) c.11447T>A (p.Leu3816His) c.10364-2478T>A (n.10364-2478T>A) |