| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178551676G>A | CA16603867 | TTN,TTN-AS1 | c.83520C>T (p.Ser27840=) c.64605C>T (p.Ser21535=) c.64404C>T (p.Ser21468=) c.64029C>T (p.Ser21343=) c.91224C>T (p.Ser30408=) c.86301C>T (p.Ser28767=) n.447-19624G>A n.2043+9315G>A c.90321C>T (p.Ser30107=) c.64215C>T (p.Ser21405=) c.64074C>T (p.Ser21358=) c.90117C>T (p.Ser30039=) c.85515C>T (p.Ser28505=) c.85512C>T (p.Ser28504=) c.82554C>T (p.Ser27518=) c.64170C>T (p.Ser21390=) c.85665C>T (p.Ser28555=) c.85662C>T (p.Ser28554=) c.85095C>T (p.Ser28365=) c.82437C>T (p.Ser27479=) c.82356C>T (p.Ser27452=) c.64119C>T (p.Ser21373=) c.53973C>T (p.Ser17991=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178551676G>C | CA349502856 | TTN,TTN-AS1 | c.83520C>G (p.Ser27840Arg) c.64605C>G (p.Ser21535Arg) c.64404C>G (p.Ser21468Arg) c.64029C>G (p.Ser21343Arg) c.91224C>G (p.Ser30408Arg) c.86301C>G (p.Ser28767Arg) n.447-19624G>C n.2043+9315G>C c.90321C>G (p.Ser30107Arg) c.64215C>G (p.Ser21405Arg) c.64074C>G (p.Ser21358Arg) c.90117C>G (p.Ser30039Arg) c.85515C>G (p.Ser28505Arg) c.85512C>G (p.Ser28504Arg) c.82554C>G (p.Ser27518Arg) c.64170C>G (p.Ser21390Arg) c.85665C>G (p.Ser28555Arg) c.85662C>G (p.Ser28554Arg) c.85095C>G (p.Ser28365Arg) c.82437C>G (p.Ser27479Arg) c.82356C>G (p.Ser27452Arg) c.64119C>G (p.Ser21373Arg) c.53973C>G (p.Ser17991Arg) | |
| 2 | g.178551676G= | CA1310521142 | TTN,TTN-AS1 | c.83520C= (p.Ser27840=) c.64605C= (p.Ser21535=) c.64404C= (p.Ser21468=) c.64029C= (p.Ser21343=) c.91224C= (p.Ser30408=) c.86301C= (p.Ser28767=) n.447-19624G= n.2043+9315G= c.90321C= (p.Ser30107=) c.64215C= (p.Ser21405=) c.64074C= (p.Ser21358=) c.90117C= (p.Ser30039=) c.85515C= (p.Ser28505=) c.85512C= (p.Ser28504=) c.82554C= (p.Ser27518=) c.64170C= (p.Ser21390=) c.85665C= (p.Ser28555=) c.85662C= (p.Ser28554=) c.85095C= (p.Ser28365=) c.82437C= (p.Ser27479=) c.82356C= (p.Ser27452=) c.64119C= (p.Ser21373=) c.53973C= (p.Ser17991=) | |
| 2 | g.178551676G>T | CA349502857 | TTN,TTN-AS1 | c.83520C>A (p.Ser27840Arg) c.64605C>A (p.Ser21535Arg) c.64404C>A (p.Ser21468Arg) c.64029C>A (p.Ser21343Arg) c.91224C>A (p.Ser30408Arg) c.86301C>A (p.Ser28767Arg) n.447-19624G>T n.2043+9315G>T c.90321C>A (p.Ser30107Arg) c.64215C>A (p.Ser21405Arg) c.64074C>A (p.Ser21358Arg) c.90117C>A (p.Ser30039Arg) c.85515C>A (p.Ser28505Arg) c.85512C>A (p.Ser28504Arg) c.82554C>A (p.Ser27518Arg) c.64170C>A (p.Ser21390Arg) c.85665C>A (p.Ser28555Arg) c.85662C>A (p.Ser28554Arg) c.85095C>A (p.Ser28365Arg) c.82437C>A (p.Ser27479Arg) c.82356C>A (p.Ser27452Arg) c.64119C>A (p.Ser21373Arg) c.53973C>A (p.Ser17991Arg) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178551677C>A | CA349502862 | TTN,TTN-AS1 | c.83519G>T (p.Ser27840Ile) c.64604G>T (p.Ser21535Ile) c.64403G>T (p.Ser21468Ile) c.64028G>T (p.Ser21343Ile) c.91223G>T (p.Ser30408Ile) c.86300G>T (p.Ser28767Ile) n.447-19623C>A n.2043+9316C>A c.90320G>T (p.Ser30107Ile) c.64214G>T (p.Ser21405Ile) c.64073G>T (p.Ser21358Ile) c.90116G>T (p.Ser30039Ile) c.85514G>T (p.Ser28505Ile) c.85511G>T (p.Ser28504Ile) c.82553G>T (p.Ser27518Ile) c.64169G>T (p.Ser21390Ile) c.85664G>T (p.Ser28555Ile) c.85661G>T (p.Ser28554Ile) c.85094G>T (p.Ser28365Ile) c.82436G>T (p.Ser27479Ile) c.82355G>T (p.Ser27452Ile) c.64118G>T (p.Ser21373Ile) c.53972G>T (p.Ser17991Ile) | |
| 2 | g.178551677C>G | CA349502863 | TTN,TTN-AS1 | c.83519G>C (p.Ser27840Thr) c.64604G>C (p.Ser21535Thr) c.64403G>C (p.Ser21468Thr) c.64028G>C (p.Ser21343Thr) c.91223G>C (p.Ser30408Thr) c.86300G>C (p.Ser28767Thr) n.447-19623C>G n.2043+9316C>G c.90320G>C (p.Ser30107Thr) c.64214G>C (p.Ser21405Thr) c.64073G>C (p.Ser21358Thr) c.90116G>C (p.Ser30039Thr) c.85514G>C (p.Ser28505Thr) c.85511G>C (p.Ser28504Thr) c.82553G>C (p.Ser27518Thr) c.64169G>C (p.Ser21390Thr) c.85664G>C (p.Ser28555Thr) c.85661G>C (p.Ser28554Thr) c.85094G>C (p.Ser28365Thr) c.82436G>C (p.Ser27479Thr) c.82355G>C (p.Ser27452Thr) c.64118G>C (p.Ser21373Thr) c.53972G>C (p.Ser17991Thr) | |
| 2 | g.178551677C>T | CA349502860 | TTN,TTN-AS1 | c.83519G>A (p.Ser27840Asn) c.64604G>A (p.Ser21535Asn) c.64403G>A (p.Ser21468Asn) c.64028G>A (p.Ser21343Asn) c.91223G>A (p.Ser30408Asn) c.86300G>A (p.Ser28767Asn) n.447-19623C>T n.2043+9316C>T c.90320G>A (p.Ser30107Asn) c.64214G>A (p.Ser21405Asn) c.64073G>A (p.Ser21358Asn) c.90116G>A (p.Ser30039Asn) c.85514G>A (p.Ser28505Asn) c.85511G>A (p.Ser28504Asn) c.82553G>A (p.Ser27518Asn) c.64169G>A (p.Ser21390Asn) c.85664G>A (p.Ser28555Asn) c.85661G>A (p.Ser28554Asn) c.85094G>A (p.Ser28365Asn) c.82436G>A (p.Ser27479Asn) c.82355G>A (p.Ser27452Asn) c.64118G>A (p.Ser21373Asn) c.53972G>A (p.Ser17991Asn) | |
| 2 | g.178551678T>A | CA349502872 | TTN,TTN-AS1 | c.83518A>T (p.Ser27840Cys) c.64603A>T (p.Ser21535Cys) c.64402A>T (p.Ser21468Cys) c.64027A>T (p.Ser21343Cys) c.91222A>T (p.Ser30408Cys) c.86299A>T (p.Ser28767Cys) n.447-19622T>A n.2043+9317T>A c.90319A>T (p.Ser30107Cys) c.64213A>T (p.Ser21405Cys) c.64072A>T (p.Ser21358Cys) c.90115A>T (p.Ser30039Cys) c.85513A>T (p.Ser28505Cys) c.85510A>T (p.Ser28504Cys) c.82552A>T (p.Ser27518Cys) c.64168A>T (p.Ser21390Cys) c.85663A>T (p.Ser28555Cys) c.85660A>T (p.Ser28554Cys) c.85093A>T (p.Ser28365Cys) c.82435A>T (p.Ser27479Cys) c.82354A>T (p.Ser27452Cys) c.64117A>T (p.Ser21373Cys) c.53971A>T (p.Ser17991Cys) | |
| 2 | g.178551678T>C | CA349502866 | TTN,TTN-AS1 | c.83518A>G (p.Ser27840Gly) c.64603A>G (p.Ser21535Gly) c.64402A>G (p.Ser21468Gly) c.64027A>G (p.Ser21343Gly) c.91222A>G (p.Ser30408Gly) c.86299A>G (p.Ser28767Gly) n.447-19622T>C n.2043+9317T>C c.90319A>G (p.Ser30107Gly) c.64213A>G (p.Ser21405Gly) c.64072A>G (p.Ser21358Gly) c.90115A>G (p.Ser30039Gly) c.85513A>G (p.Ser28505Gly) c.85510A>G (p.Ser28504Gly) c.82552A>G (p.Ser27518Gly) c.64168A>G (p.Ser21390Gly) c.85663A>G (p.Ser28555Gly) c.85660A>G (p.Ser28554Gly) c.85093A>G (p.Ser28365Gly) c.82435A>G (p.Ser27479Gly) c.82354A>G (p.Ser27452Gly) c.64117A>G (p.Ser21373Gly) c.53971A>G (p.Ser17991Gly) | gnomAD v4 |
| 2 | g.178551678T>G | CA349502870 | TTN,TTN-AS1 | c.83518A>C (p.Ser27840Arg) c.64603A>C (p.Ser21535Arg) c.64402A>C (p.Ser21468Arg) c.64027A>C (p.Ser21343Arg) c.91222A>C (p.Ser30408Arg) c.86299A>C (p.Ser28767Arg) n.447-19622T>G n.2043+9317T>G c.90319A>C (p.Ser30107Arg) c.64213A>C (p.Ser21405Arg) c.64072A>C (p.Ser21358Arg) c.90115A>C (p.Ser30039Arg) c.85513A>C (p.Ser28505Arg) c.85510A>C (p.Ser28504Arg) c.82552A>C (p.Ser27518Arg) c.64168A>C (p.Ser21390Arg) c.85663A>C (p.Ser28555Arg) c.85660A>C (p.Ser28554Arg) c.85093A>C (p.Ser28365Arg) c.82435A>C (p.Ser27479Arg) c.82354A>C (p.Ser27452Arg) c.64117A>C (p.Ser21373Arg) c.53971A>C (p.Ser17991Arg) | gnomAD v4 |
| 2 | g.178551679T>A | CA430104065 | TTN,TTN-AS1 | c.83517A>T (p.Leu27839=) c.64602A>T (p.Leu21534=) c.64401A>T (p.Leu21467=) c.64026A>T (p.Leu21342=) c.91221A>T (p.Leu30407=) c.86298A>T (p.Leu28766=) n.447-19621T>A n.2043+9318T>A c.90318A>T (p.Leu30106=) c.64212A>T (p.Leu21404=) c.64071A>T (p.Leu21357=) c.90114A>T (p.Leu30038=) c.85512A>T (p.Leu28504=) c.85509A>T (p.Leu28503=) c.82551A>T (p.Leu27517=) c.64167A>T (p.Leu21389=) c.85662A>T (p.Leu28554=) c.85659A>T (p.Leu28553=) c.85092A>T (p.Leu28364=) c.82434A>T (p.Leu27478=) c.82353A>T (p.Leu27451=) c.64116A>T (p.Leu21372=) c.53970A>T (p.Leu17990=) | |
| 2 | g.178551679T>C | CA430104066 | TTN,TTN-AS1 | c.83517A>G (p.Leu27839=) c.64602A>G (p.Leu21534=) c.64401A>G (p.Leu21467=) c.64026A>G (p.Leu21342=) c.91221A>G (p.Leu30407=) c.86298A>G (p.Leu28766=) n.447-19621T>C n.2043+9318T>C c.90318A>G (p.Leu30106=) c.64212A>G (p.Leu21404=) c.64071A>G (p.Leu21357=) c.90114A>G (p.Leu30038=) c.85512A>G (p.Leu28504=) c.85509A>G (p.Leu28503=) c.82551A>G (p.Leu27517=) c.64167A>G (p.Leu21389=) c.85662A>G (p.Leu28554=) c.85659A>G (p.Leu28553=) c.85092A>G (p.Leu28364=) c.82434A>G (p.Leu27478=) c.82353A>G (p.Leu27451=) c.64116A>G (p.Leu21372=) c.53970A>G (p.Leu17990=) | |
| 2 | g.178551679T>G | CA430104067 | TTN,TTN-AS1 | c.83517A>C (p.Leu27839=) c.64602A>C (p.Leu21534=) c.64401A>C (p.Leu21467=) c.64026A>C (p.Leu21342=) c.91221A>C (p.Leu30407=) c.86298A>C (p.Leu28766=) n.447-19621T>G n.2043+9318T>G c.90318A>C (p.Leu30106=) c.64212A>C (p.Leu21404=) c.64071A>C (p.Leu21357=) c.90114A>C (p.Leu30038=) c.85512A>C (p.Leu28504=) c.85509A>C (p.Leu28503=) c.82551A>C (p.Leu27517=) c.64167A>C (p.Leu21389=) c.85662A>C (p.Leu28554=) c.85659A>C (p.Leu28553=) c.85092A>C (p.Leu28364=) c.82434A>C (p.Leu27478=) c.82353A>C (p.Leu27451=) c.64116A>C (p.Leu21372=) c.53970A>C (p.Leu17990=) | |
| 2 | g.178551680A= | CA1310521143 | TTN,TTN-AS1 | c.83516T= (p.Leu27839=) c.64601T= (p.Leu21534=) c.64400T= (p.Leu21467=) c.64025T= (p.Leu21342=) c.91220T= (p.Leu30407=) c.86297T= (p.Leu28766=) n.447-19620A= n.2043+9319A= c.90317T= (p.Leu30106=) c.64211T= (p.Leu21404=) c.64070T= (p.Leu21357=) c.90113T= (p.Leu30038=) c.85511T= (p.Leu28504=) c.85508T= (p.Leu28503=) c.82550T= (p.Leu27517=) c.64166T= (p.Leu21389=) c.85661T= (p.Leu28554=) c.85658T= (p.Leu28553=) c.85091T= (p.Leu28364=) c.82433T= (p.Leu27478=) c.82352T= (p.Leu27451=) c.64115T= (p.Leu21372=) c.53969T= (p.Leu17990=) | |
| 2 | g.178551680A>C | CA349502877 | TTN,TTN-AS1 | c.83516T>G (p.Leu27839Arg) c.64601T>G (p.Leu21534Arg) c.64400T>G (p.Leu21467Arg) c.64025T>G (p.Leu21342Arg) c.91220T>G (p.Leu30407Arg) c.86297T>G (p.Leu28766Arg) n.447-19620A>C n.2043+9319A>C c.90317T>G (p.Leu30106Arg) c.64211T>G (p.Leu21404Arg) c.64070T>G (p.Leu21357Arg) c.90113T>G (p.Leu30038Arg) c.85511T>G (p.Leu28504Arg) c.85508T>G (p.Leu28503Arg) c.82550T>G (p.Leu27517Arg) c.64166T>G (p.Leu21389Arg) c.85661T>G (p.Leu28554Arg) c.85658T>G (p.Leu28553Arg) c.85091T>G (p.Leu28364Arg) c.82433T>G (p.Leu27478Arg) c.82352T>G (p.Leu27451Arg) c.64115T>G (p.Leu21372Arg) c.53969T>G (p.Leu17990Arg) | |
| 2 | g.178551680A>G | CA1987668 | TTN,TTN-AS1 | c.83516T>C (p.Leu27839Pro) c.64601T>C (p.Leu21534Pro) c.64400T>C (p.Leu21467Pro) c.64025T>C (p.Leu21342Pro) c.91220T>C (p.Leu30407Pro) c.86297T>C (p.Leu28766Pro) n.447-19620A>G n.2043+9319A>G c.90317T>C (p.Leu30106Pro) c.64211T>C (p.Leu21404Pro) c.64070T>C (p.Leu21357Pro) c.90113T>C (p.Leu30038Pro) c.85511T>C (p.Leu28504Pro) c.85508T>C (p.Leu28503Pro) c.82550T>C (p.Leu27517Pro) c.64166T>C (p.Leu21389Pro) c.85661T>C (p.Leu28554Pro) c.85658T>C (p.Leu28553Pro) c.85091T>C (p.Leu28364Pro) c.82433T>C (p.Leu27478Pro) c.82352T>C (p.Leu27451Pro) c.64115T>C (p.Leu21372Pro) c.53969T>C (p.Leu17990Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178551680A>T | CA349502880 | TTN,TTN-AS1 | c.83516T>A (p.Leu27839Gln) c.64601T>A (p.Leu21534Gln) c.64400T>A (p.Leu21467Gln) c.64025T>A (p.Leu21342Gln) c.91220T>A (p.Leu30407Gln) c.86297T>A (p.Leu28766Gln) n.447-19620A>T n.2043+9319A>T c.90317T>A (p.Leu30106Gln) c.64211T>A (p.Leu21404Gln) c.64070T>A (p.Leu21357Gln) c.90113T>A (p.Leu30038Gln) c.85511T>A (p.Leu28504Gln) c.85508T>A (p.Leu28503Gln) c.82550T>A (p.Leu27517Gln) c.64166T>A (p.Leu21389Gln) c.85661T>A (p.Leu28554Gln) c.85658T>A (p.Leu28553Gln) c.85091T>A (p.Leu28364Gln) c.82433T>A (p.Leu27478Gln) c.82352T>A (p.Leu27451Gln) c.64115T>A (p.Leu21372Gln) c.53969T>A (p.Leu17990Gln) | |
| 2 | g.178551681G>A | CA430104070 | TTN,TTN-AS1 | c.83515C>T (p.Leu27839=) c.64600C>T (p.Leu21534=) c.64399C>T (p.Leu21467=) c.64024C>T (p.Leu21342=) c.91219C>T (p.Leu30407=) c.86296C>T (p.Leu28766=) n.447-19619G>A n.2043+9320G>A c.90316C>T (p.Leu30106=) c.64210C>T (p.Leu21404=) c.64069C>T (p.Leu21357=) c.90112C>T (p.Leu30038=) c.85510C>T (p.Leu28504=) c.85507C>T (p.Leu28503=) c.82549C>T (p.Leu27517=) c.64165C>T (p.Leu21389=) c.85660C>T (p.Leu28554=) c.85657C>T (p.Leu28553=) c.85090C>T (p.Leu28364=) c.82432C>T (p.Leu27478=) c.82351C>T (p.Leu27451=) c.64114C>T (p.Leu21372=) c.53968C>T (p.Leu17990=) | gnomAD v4 |
| 2 | g.178551681G>C | CA349502883 | TTN,TTN-AS1 | c.83515C>G (p.Leu27839Val) c.64600C>G (p.Leu21534Val) c.64399C>G (p.Leu21467Val) c.64024C>G (p.Leu21342Val) c.91219C>G (p.Leu30407Val) c.86296C>G (p.Leu28766Val) n.447-19619G>C n.2043+9320G>C c.90316C>G (p.Leu30106Val) c.64210C>G (p.Leu21404Val) c.64069C>G (p.Leu21357Val) c.90112C>G (p.Leu30038Val) c.85510C>G (p.Leu28504Val) c.85507C>G (p.Leu28503Val) c.82549C>G (p.Leu27517Val) c.64165C>G (p.Leu21389Val) c.85660C>G (p.Leu28554Val) c.85657C>G (p.Leu28553Val) c.85090C>G (p.Leu28364Val) c.82432C>G (p.Leu27478Val) c.82351C>G (p.Leu27451Val) c.64114C>G (p.Leu21372Val) c.53968C>G (p.Leu17990Val) | |
| 2 | g.178551681G>T | CA349502885 | TTN,TTN-AS1 | c.83515C>A (p.Leu27839Ile) c.64600C>A (p.Leu21534Ile) c.64399C>A (p.Leu21467Ile) c.64024C>A (p.Leu21342Ile) c.91219C>A (p.Leu30407Ile) c.86296C>A (p.Leu28766Ile) n.447-19619G>T n.2043+9320G>T c.90316C>A (p.Leu30106Ile) c.64210C>A (p.Leu21404Ile) c.64069C>A (p.Leu21357Ile) c.90112C>A (p.Leu30038Ile) c.85510C>A (p.Leu28504Ile) c.85507C>A (p.Leu28503Ile) c.82549C>A (p.Leu27517Ile) c.64165C>A (p.Leu21389Ile) c.85660C>A (p.Leu28554Ile) c.85657C>A (p.Leu28553Ile) c.85090C>A (p.Leu28364Ile) c.82432C>A (p.Leu27478Ile) c.82351C>A (p.Leu27451Ile) c.64114C>A (p.Leu21372Ile) c.53968C>A (p.Leu17990Ile) | |
| 2 | g.178551682del | CA2586970718 | TTN,TTN-AS1 | c.83515del (p.Leu27839Ter) c.64600del (p.Leu21534Ter) c.64399del (p.Leu21467Ter) c.64024del (p.Leu21342Ter) c.91219del (p.Leu30407Ter) c.86296del (p.Leu28766Ter) n.447-19618del n.2043+9321del c.90316del (p.Leu30106Ter) c.64210del (p.Leu21404Ter) c.64069del (p.Leu21357Ter) c.90112del (p.Leu30038Ter) c.85510del (p.Leu28504Ter) c.85507del (p.Leu28503Ter) c.82549del (p.Leu27517Ter) c.64165del (p.Leu21389Ter) c.85660del (p.Leu28554Ter) c.85657del (p.Leu28553Ter) c.85090del (p.Leu28364Ter) c.82432del (p.Leu27478Ter) c.82351del (p.Leu27451Ter) c.64114del (p.Leu21372Ter) c.53968del (p.Leu17990Ter) | |
| 2 | g.178551682G>A | CA1987669 | TTN,TTN-AS1 | c.83514C>T (p.Gly27838=) c.64599C>T (p.Gly21533=) c.64398C>T (p.Gly21466=) c.64023C>T (p.Gly21341=) c.91218C>T (p.Gly30406=) c.86295C>T (p.Gly28765=) n.447-19618G>A n.2043+9321G>A c.90315C>T (p.Gly30105=) c.64209C>T (p.Gly21403=) c.64068C>T (p.Gly21356=) c.90111C>T (p.Gly30037=) c.85509C>T (p.Gly28503=) c.85506C>T (p.Gly28502=) c.82548C>T (p.Gly27516=) c.64164C>T (p.Gly21388=) c.85659C>T (p.Gly28553=) c.85656C>T (p.Gly28552=) c.85089C>T (p.Gly28363=) c.82431C>T (p.Gly27477=) c.82350C>T (p.Gly27450=) c.64113C>T (p.Gly21371=) c.53967C>T (p.Gly17989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178551682G>C | CA430104073 | TTN,TTN-AS1 | c.83514C>G (p.Gly27838=) c.64599C>G (p.Gly21533=) c.64398C>G (p.Gly21466=) c.64023C>G (p.Gly21341=) c.91218C>G (p.Gly30406=) c.86295C>G (p.Gly28765=) n.447-19618G>C n.2043+9321G>C c.90315C>G (p.Gly30105=) c.64209C>G (p.Gly21403=) c.64068C>G (p.Gly21356=) c.90111C>G (p.Gly30037=) c.85509C>G (p.Gly28503=) c.85506C>G (p.Gly28502=) c.82548C>G (p.Gly27516=) c.64164C>G (p.Gly21388=) c.85659C>G (p.Gly28553=) c.85656C>G (p.Gly28552=) c.85089C>G (p.Gly28363=) c.82431C>G (p.Gly27477=) c.82350C>G (p.Gly27450=) c.64113C>G (p.Gly21371=) c.53967C>G (p.Gly17989=) | |
| 2 | g.178551682G= | CA1310521145 | TTN,TTN-AS1 | c.83514C= (p.Gly27838=) c.64599C= (p.Gly21533=) c.64398C= (p.Gly21466=) c.64023C= (p.Gly21341=) c.91218C= (p.Gly30406=) c.86295C= (p.Gly28765=) n.447-19618G= n.2043+9321G= c.90315C= (p.Gly30105=) c.64209C= (p.Gly21403=) c.64068C= (p.Gly21356=) c.90111C= (p.Gly30037=) c.85509C= (p.Gly28503=) c.85506C= (p.Gly28502=) c.82548C= (p.Gly27516=) c.64164C= (p.Gly21388=) c.85659C= (p.Gly28553=) c.85656C= (p.Gly28552=) c.85089C= (p.Gly28363=) c.82431C= (p.Gly27477=) c.82350C= (p.Gly27450=) c.64113C= (p.Gly21371=) c.53967C= (p.Gly17989=) | |
| 2 | g.178551682G>T | CA430104074 | TTN,TTN-AS1 | c.83514C>A (p.Gly27838=) c.64599C>A (p.Gly21533=) c.64398C>A (p.Gly21466=) c.64023C>A (p.Gly21341=) c.91218C>A (p.Gly30406=) c.86295C>A (p.Gly28765=) n.447-19618G>T n.2043+9321G>T c.90315C>A (p.Gly30105=) c.64209C>A (p.Gly21403=) c.64068C>A (p.Gly21356=) c.90111C>A (p.Gly30037=) c.85509C>A (p.Gly28503=) c.85506C>A (p.Gly28502=) c.82548C>A (p.Gly27516=) c.64164C>A (p.Gly21388=) c.85659C>A (p.Gly28553=) c.85656C>A (p.Gly28552=) c.85089C>A (p.Gly28363=) c.82431C>A (p.Gly27477=) c.82350C>A (p.Gly27450=) c.64113C>A (p.Gly21371=) c.53967C>A (p.Gly17989=) | |
| 2 | g.178551683C>A | CA349502890 | TTN,TTN-AS1 | c.83513G>T (p.Gly27838Val) c.64598G>T (p.Gly21533Val) c.64397G>T (p.Gly21466Val) c.64022G>T (p.Gly21341Val) c.91217G>T (p.Gly30406Val) c.86294G>T (p.Gly28765Val) n.447-19617C>A n.2043+9322C>A c.90314G>T (p.Gly30105Val) c.64208G>T (p.Gly21403Val) c.64067G>T (p.Gly21356Val) c.90110G>T (p.Gly30037Val) c.85508G>T (p.Gly28503Val) c.85505G>T (p.Gly28502Val) c.82547G>T (p.Gly27516Val) c.64163G>T (p.Gly21388Val) c.85658G>T (p.Gly28553Val) c.85655G>T (p.Gly28552Val) c.85088G>T (p.Gly28363Val) c.82430G>T (p.Gly27477Val) c.82349G>T (p.Gly27450Val) c.64112G>T (p.Gly21371Val) c.53966G>T (p.Gly17989Val) | |
| 2 | g.178551683C= | CA1310521148 | TTN,TTN-AS1 | c.83513G= (p.Gly27838=) c.64598G= (p.Gly21533=) c.64397G= (p.Gly21466=) c.64022G= (p.Gly21341=) c.91217G= (p.Gly30406=) c.86294G= (p.Gly28765=) n.447-19617C= n.2043+9322C= c.90314G= (p.Gly30105=) c.64208G= (p.Gly21403=) c.64067G= (p.Gly21356=) c.90110G= (p.Gly30037=) c.85508G= (p.Gly28503=) c.85505G= (p.Gly28502=) c.82547G= (p.Gly27516=) c.64163G= (p.Gly21388=) c.85658G= (p.Gly28553=) c.85655G= (p.Gly28552=) c.85088G= (p.Gly28363=) c.82430G= (p.Gly27477=) c.82349G= (p.Gly27450=) c.64112G= (p.Gly21371=) c.53966G= (p.Gly17989=) | |
| 2 | g.178551683C>G | CA349502893 | TTN,TTN-AS1 | c.83513G>C (p.Gly27838Ala) c.64598G>C (p.Gly21533Ala) c.64397G>C (p.Gly21466Ala) c.64022G>C (p.Gly21341Ala) c.91217G>C (p.Gly30406Ala) c.86294G>C (p.Gly28765Ala) n.447-19617C>G n.2043+9322C>G c.90314G>C (p.Gly30105Ala) c.64208G>C (p.Gly21403Ala) c.64067G>C (p.Gly21356Ala) c.90110G>C (p.Gly30037Ala) c.85508G>C (p.Gly28503Ala) c.85505G>C (p.Gly28502Ala) c.82547G>C (p.Gly27516Ala) c.64163G>C (p.Gly21388Ala) c.85658G>C (p.Gly28553Ala) c.85655G>C (p.Gly28552Ala) c.85088G>C (p.Gly28363Ala) c.82430G>C (p.Gly27477Ala) c.82349G>C (p.Gly27450Ala) c.64112G>C (p.Gly21371Ala) c.53966G>C (p.Gly17989Ala) | |
| 2 | g.178551683C>T | CA60977083 | TTN,TTN-AS1 | c.83513G>A (p.Gly27838Asp) c.64598G>A (p.Gly21533Asp) c.64397G>A (p.Gly21466Asp) c.64022G>A (p.Gly21341Asp) c.91217G>A (p.Gly30406Asp) c.86294G>A (p.Gly28765Asp) n.447-19617C>T n.2043+9322C>T c.90314G>A (p.Gly30105Asp) c.64208G>A (p.Gly21403Asp) c.64067G>A (p.Gly21356Asp) c.90110G>A (p.Gly30037Asp) c.85508G>A (p.Gly28503Asp) c.85505G>A (p.Gly28502Asp) c.82547G>A (p.Gly27516Asp) c.64163G>A (p.Gly21388Asp) c.85658G>A (p.Gly28553Asp) c.85655G>A (p.Gly28552Asp) c.85088G>A (p.Gly28363Asp) c.82430G>A (p.Gly27477Asp) c.82349G>A (p.Gly27450Asp) c.64112G>A (p.Gly21371Asp) c.53966G>A (p.Gly17989Asp) | dbSNP |
| 2 | g.178551684C>A | CA60977086 | TTN,TTN-AS1 | c.83512G>T (p.Gly27838Cys) c.64597G>T (p.Gly21533Cys) c.64396G>T (p.Gly21466Cys) c.64021G>T (p.Gly21341Cys) c.91216G>T (p.Gly30406Cys) c.86293G>T (p.Gly28765Cys) n.447-19616C>A n.2043+9323C>A c.90313G>T (p.Gly30105Cys) c.64207G>T (p.Gly21403Cys) c.64066G>T (p.Gly21356Cys) c.90109G>T (p.Gly30037Cys) c.85507G>T (p.Gly28503Cys) c.85504G>T (p.Gly28502Cys) c.82546G>T (p.Gly27516Cys) c.64162G>T (p.Gly21388Cys) c.85657G>T (p.Gly28553Cys) c.85654G>T (p.Gly28552Cys) c.85087G>T (p.Gly28363Cys) c.82429G>T (p.Gly27477Cys) c.82348G>T (p.Gly27450Cys) c.64111G>T (p.Gly21371Cys) c.53965G>T (p.Gly17989Cys) | dbSNP gnomAD v4 |
| 2 | g.178551684C= | CA1310521150 | TTN,TTN-AS1 | c.83512G= (p.Gly27838=) c.64597G= (p.Gly21533=) c.64396G= (p.Gly21466=) c.64021G= (p.Gly21341=) c.91216G= (p.Gly30406=) c.86293G= (p.Gly28765=) n.447-19616C= n.2043+9323C= c.90313G= (p.Gly30105=) c.64207G= (p.Gly21403=) c.64066G= (p.Gly21356=) c.90109G= (p.Gly30037=) c.85507G= (p.Gly28503=) c.85504G= (p.Gly28502=) c.82546G= (p.Gly27516=) c.64162G= (p.Gly21388=) c.85657G= (p.Gly28553=) c.85654G= (p.Gly28552=) c.85087G= (p.Gly28363=) c.82429G= (p.Gly27477=) c.82348G= (p.Gly27450=) c.64111G= (p.Gly21371=) c.53965G= (p.Gly17989=) | |
| 2 | g.178551684C>G | CA349502899 | TTN,TTN-AS1 | c.83512G>C (p.Gly27838Arg) c.64597G>C (p.Gly21533Arg) c.64396G>C (p.Gly21466Arg) c.64021G>C (p.Gly21341Arg) c.91216G>C (p.Gly30406Arg) c.86293G>C (p.Gly28765Arg) n.447-19616C>G n.2043+9323C>G c.90313G>C (p.Gly30105Arg) c.64207G>C (p.Gly21403Arg) c.64066G>C (p.Gly21356Arg) c.90109G>C (p.Gly30037Arg) c.85507G>C (p.Gly28503Arg) c.85504G>C (p.Gly28502Arg) c.82546G>C (p.Gly27516Arg) c.64162G>C (p.Gly21388Arg) c.85657G>C (p.Gly28553Arg) c.85654G>C (p.Gly28552Arg) c.85087G>C (p.Gly28363Arg) c.82429G>C (p.Gly27477Arg) c.82348G>C (p.Gly27450Arg) c.64111G>C (p.Gly21371Arg) c.53965G>C (p.Gly17989Arg) | |
| 2 | g.178551684C>T | CA349502902 | TTN,TTN-AS1 | c.83512G>A (p.Gly27838Ser) c.64597G>A (p.Gly21533Ser) c.64396G>A (p.Gly21466Ser) c.64021G>A (p.Gly21341Ser) c.91216G>A (p.Gly30406Ser) c.86293G>A (p.Gly28765Ser) n.447-19616C>T n.2043+9323C>T c.90313G>A (p.Gly30105Ser) c.64207G>A (p.Gly21403Ser) c.64066G>A (p.Gly21356Ser) c.90109G>A (p.Gly30037Ser) c.85507G>A (p.Gly28503Ser) c.85504G>A (p.Gly28502Ser) c.82546G>A (p.Gly27516Ser) c.64162G>A (p.Gly21388Ser) c.85657G>A (p.Gly28553Ser) c.85654G>A (p.Gly28552Ser) c.85087G>A (p.Gly28363Ser) c.82429G>A (p.Gly27477Ser) c.82348G>A (p.Gly27450Ser) c.64111G>A (p.Gly21371Ser) c.53965G>A (p.Gly17989Ser) | |
| 2 | g.178551685A>C | CA430245064 | TTN,TTN-AS1 | c.83511T>G (p.Ala27837=) c.64596T>G (p.Ala21532=) c.64395T>G (p.Ala21465=) c.64020T>G (p.Ala21340=) c.91215T>G (p.Ala30405=) c.86292T>G (p.Ala28764=) n.447-19615A>C n.2043+9324A>C c.90312T>G (p.Ala30104=) c.64206T>G (p.Ala21402=) c.64065T>G (p.Ala21355=) c.90108T>G (p.Ala30036=) c.85506T>G (p.Ala28502=) c.85503T>G (p.Ala28501=) c.82545T>G (p.Ala27515=) c.64161T>G (p.Ala21387=) c.85656T>G (p.Ala28552=) c.85653T>G (p.Ala28551=) c.85086T>G (p.Ala28362=) c.82428T>G (p.Ala27476=) c.82347T>G (p.Ala27449=) c.64110T>G (p.Ala21370=) c.53964T>G (p.Ala17988=) | |
| 2 | g.178551685A>G | CA430245065 | TTN,TTN-AS1 | c.83511T>C (p.Ala27837=) c.64596T>C (p.Ala21532=) c.64395T>C (p.Ala21465=) c.64020T>C (p.Ala21340=) c.91215T>C (p.Ala30405=) c.86292T>C (p.Ala28764=) n.447-19615A>G n.2043+9324A>G c.90312T>C (p.Ala30104=) c.64206T>C (p.Ala21402=) c.64065T>C (p.Ala21355=) c.90108T>C (p.Ala30036=) c.85506T>C (p.Ala28502=) c.85503T>C (p.Ala28501=) c.82545T>C (p.Ala27515=) c.64161T>C (p.Ala21387=) c.85656T>C (p.Ala28552=) c.85653T>C (p.Ala28551=) c.85086T>C (p.Ala28362=) c.82428T>C (p.Ala27476=) c.82347T>C (p.Ala27449=) c.64110T>C (p.Ala21370=) c.53964T>C (p.Ala17988=) | gnomAD v4 |
| 2 | g.178551685A>T | CA430245066 | TTN,TTN-AS1 | c.83511T>A (p.Ala27837=) c.64596T>A (p.Ala21532=) c.64395T>A (p.Ala21465=) c.64020T>A (p.Ala21340=) c.91215T>A (p.Ala30405=) c.86292T>A (p.Ala28764=) n.447-19615A>T n.2043+9324A>T c.90312T>A (p.Ala30104=) c.64206T>A (p.Ala21402=) c.64065T>A (p.Ala21355=) c.90108T>A (p.Ala30036=) c.85506T>A (p.Ala28502=) c.85503T>A (p.Ala28501=) c.82545T>A (p.Ala27515=) c.64161T>A (p.Ala21387=) c.85656T>A (p.Ala28552=) c.85653T>A (p.Ala28551=) c.85086T>A (p.Ala28362=) c.82428T>A (p.Ala27476=) c.82347T>A (p.Ala27449=) c.64110T>A (p.Ala21370=) c.53964T>A (p.Ala17988=) | gnomAD v4 |
| 2 | g.178551686G>A | CA1987670 | TTN,TTN-AS1 | c.83510C>T (p.Ala27837Val) c.64595C>T (p.Ala21532Val) c.64394C>T (p.Ala21465Val) c.64019C>T (p.Ala21340Val) c.91214C>T (p.Ala30405Val) c.86291C>T (p.Ala28764Val) n.447-19614G>A n.2043+9325G>A c.90311C>T (p.Ala30104Val) c.64205C>T (p.Ala21402Val) c.64064C>T (p.Ala21355Val) c.90107C>T (p.Ala30036Val) c.85505C>T (p.Ala28502Val) c.85502C>T (p.Ala28501Val) c.82544C>T (p.Ala27515Val) c.64160C>T (p.Ala21387Val) c.85655C>T (p.Ala28552Val) c.85652C>T (p.Ala28551Val) c.85085C>T (p.Ala28362Val) c.82427C>T (p.Ala27476Val) c.82346C>T (p.Ala27449Val) c.64109C>T (p.Ala21370Val) c.53963C>T (p.Ala17988Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178551686G>C | CA349502910 | TTN,TTN-AS1 | c.83510C>G (p.Ala27837Gly) c.64595C>G (p.Ala21532Gly) c.64394C>G (p.Ala21465Gly) c.64019C>G (p.Ala21340Gly) c.91214C>G (p.Ala30405Gly) c.86291C>G (p.Ala28764Gly) n.447-19614G>C n.2043+9325G>C c.90311C>G (p.Ala30104Gly) c.64205C>G (p.Ala21402Gly) c.64064C>G (p.Ala21355Gly) c.90107C>G (p.Ala30036Gly) c.85505C>G (p.Ala28502Gly) c.85502C>G (p.Ala28501Gly) c.82544C>G (p.Ala27515Gly) c.64160C>G (p.Ala21387Gly) c.85655C>G (p.Ala28552Gly) c.85652C>G (p.Ala28551Gly) c.85085C>G (p.Ala28362Gly) c.82427C>G (p.Ala27476Gly) c.82346C>G (p.Ala27449Gly) c.64109C>G (p.Ala21370Gly) c.53963C>G (p.Ala17988Gly) | |
| 2 | g.178551686G= | CA1310521152 | TTN,TTN-AS1 | c.83510C= (p.Ala27837=) c.64595C= (p.Ala21532=) c.64394C= (p.Ala21465=) c.64019C= (p.Ala21340=) c.91214C= (p.Ala30405=) c.86291C= (p.Ala28764=) n.447-19614G= n.2043+9325G= c.90311C= (p.Ala30104=) c.64205C= (p.Ala21402=) c.64064C= (p.Ala21355=) c.90107C= (p.Ala30036=) c.85505C= (p.Ala28502=) c.85502C= (p.Ala28501=) c.82544C= (p.Ala27515=) c.64160C= (p.Ala21387=) c.85655C= (p.Ala28552=) c.85652C= (p.Ala28551=) c.85085C= (p.Ala28362=) c.82427C= (p.Ala27476=) c.82346C= (p.Ala27449=) c.64109C= (p.Ala21370=) c.53963C= (p.Ala17988=) | |
| 2 | g.178551686G>T | CA349502906 | TTN,TTN-AS1 | c.83510C>A (p.Ala27837Asp) c.64595C>A (p.Ala21532Asp) c.64394C>A (p.Ala21465Asp) c.64019C>A (p.Ala21340Asp) c.91214C>A (p.Ala30405Asp) c.86291C>A (p.Ala28764Asp) n.447-19614G>T n.2043+9325G>T c.90311C>A (p.Ala30104Asp) c.64205C>A (p.Ala21402Asp) c.64064C>A (p.Ala21355Asp) c.90107C>A (p.Ala30036Asp) c.85505C>A (p.Ala28502Asp) c.85502C>A (p.Ala28501Asp) c.82544C>A (p.Ala27515Asp) c.64160C>A (p.Ala21387Asp) c.85655C>A (p.Ala28552Asp) c.85652C>A (p.Ala28551Asp) c.85085C>A (p.Ala28362Asp) c.82427C>A (p.Ala27476Asp) c.82346C>A (p.Ala27449Asp) c.64109C>A (p.Ala21370Asp) c.53963C>A (p.Ala17988Asp) | |
| 2 | g.178551687C>A | CA349502914 | TTN,TTN-AS1 | c.83509G>T (p.Ala27837Ser) c.64594G>T (p.Ala21532Ser) c.64393G>T (p.Ala21465Ser) c.64018G>T (p.Ala21340Ser) c.91213G>T (p.Ala30405Ser) c.86290G>T (p.Ala28764Ser) n.447-19613C>A n.2043+9326C>A c.90310G>T (p.Ala30104Ser) c.64204G>T (p.Ala21402Ser) c.64063G>T (p.Ala21355Ser) c.90106G>T (p.Ala30036Ser) c.85504G>T (p.Ala28502Ser) c.85501G>T (p.Ala28501Ser) c.82543G>T (p.Ala27515Ser) c.64159G>T (p.Ala21387Ser) c.85654G>T (p.Ala28552Ser) c.85651G>T (p.Ala28551Ser) c.85084G>T (p.Ala28362Ser) c.82426G>T (p.Ala27476Ser) c.82345G>T (p.Ala27449Ser) c.64108G>T (p.Ala21370Ser) c.53962G>T (p.Ala17988Ser) | |
| 2 | g.178551687C= | CA1310521153 | TTN,TTN-AS1 | c.83509G= (p.Ala27837=) c.64594G= (p.Ala21532=) c.64393G= (p.Ala21465=) c.64018G= (p.Ala21340=) c.91213G= (p.Ala30405=) c.86290G= (p.Ala28764=) n.447-19613C= n.2043+9326C= c.90310G= (p.Ala30104=) c.64204G= (p.Ala21402=) c.64063G= (p.Ala21355=) c.90106G= (p.Ala30036=) c.85504G= (p.Ala28502=) c.85501G= (p.Ala28501=) c.82543G= (p.Ala27515=) c.64159G= (p.Ala21387=) c.85654G= (p.Ala28552=) c.85651G= (p.Ala28551=) c.85084G= (p.Ala28362=) c.82426G= (p.Ala27476=) c.82345G= (p.Ala27449=) c.64108G= (p.Ala21370=) c.53962G= (p.Ala17988=) | |
| 2 | g.178551687C>G | CA1987671 | TTN,TTN-AS1 | c.83509G>C (p.Ala27837Pro) c.64594G>C (p.Ala21532Pro) c.64393G>C (p.Ala21465Pro) c.64018G>C (p.Ala21340Pro) c.91213G>C (p.Ala30405Pro) c.86290G>C (p.Ala28764Pro) n.447-19613C>G n.2043+9326C>G c.90310G>C (p.Ala30104Pro) c.64204G>C (p.Ala21402Pro) c.64063G>C (p.Ala21355Pro) c.90106G>C (p.Ala30036Pro) c.85504G>C (p.Ala28502Pro) c.85501G>C (p.Ala28501Pro) c.82543G>C (p.Ala27515Pro) c.64159G>C (p.Ala21387Pro) c.85654G>C (p.Ala28552Pro) c.85651G>C (p.Ala28551Pro) c.85084G>C (p.Ala28362Pro) c.82426G>C (p.Ala27476Pro) c.82345G>C (p.Ala27449Pro) c.64108G>C (p.Ala21370Pro) c.53962G>C (p.Ala17988Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178551687C>T | CA349502941 | TTN,TTN-AS1 | c.83509G>A (p.Ala27837Thr) c.64594G>A (p.Ala21532Thr) c.64393G>A (p.Ala21465Thr) c.64018G>A (p.Ala21340Thr) c.91213G>A (p.Ala30405Thr) c.86290G>A (p.Ala28764Thr) n.447-19613C>T n.2043+9326C>T c.90310G>A (p.Ala30104Thr) c.64204G>A (p.Ala21402Thr) c.64063G>A (p.Ala21355Thr) c.90106G>A (p.Ala30036Thr) c.85504G>A (p.Ala28502Thr) c.85501G>A (p.Ala28501Thr) c.82543G>A (p.Ala27515Thr) c.64159G>A (p.Ala21387Thr) c.85654G>A (p.Ala28552Thr) c.85651G>A (p.Ala28551Thr) c.85084G>A (p.Ala28362Thr) c.82426G>A (p.Ala27476Thr) c.82345G>A (p.Ala27449Thr) c.64108G>A (p.Ala21370Thr) c.53962G>A (p.Ala17988Thr) | |
| 2 | g.178551688A>C | CA430245070 | TTN,TTN-AS1 | c.83508T>G (p.Ser27836=) c.64593T>G (p.Ser21531=) c.64392T>G (p.Ser21464=) c.64017T>G (p.Ser21339=) c.91212T>G (p.Ser30404=) c.86289T>G (p.Ser28763=) n.447-19612A>C n.2043+9327A>C c.90309T>G (p.Ser30103=) c.64203T>G (p.Ser21401=) c.64062T>G (p.Ser21354=) c.90105T>G (p.Ser30035=) c.85503T>G (p.Ser28501=) c.85500T>G (p.Ser28500=) c.82542T>G (p.Ser27514=) c.64158T>G (p.Ser21386=) c.85653T>G (p.Ser28551=) c.85650T>G (p.Ser28550=) c.85083T>G (p.Ser28361=) c.82425T>G (p.Ser27475=) c.82344T>G (p.Ser27448=) c.64107T>G (p.Ser21369=) c.53961T>G (p.Ser17987=) | ClinVar dbSNP |
| 2 | g.178551688A>G | CA430245071 | TTN,TTN-AS1 | c.83508T>C (p.Ser27836=) c.64593T>C (p.Ser21531=) c.64392T>C (p.Ser21464=) c.64017T>C (p.Ser21339=) c.91212T>C (p.Ser30404=) c.86289T>C (p.Ser28763=) n.447-19612A>G n.2043+9327A>G c.90309T>C (p.Ser30103=) c.64203T>C (p.Ser21401=) c.64062T>C (p.Ser21354=) c.90105T>C (p.Ser30035=) c.85503T>C (p.Ser28501=) c.85500T>C (p.Ser28500=) c.82542T>C (p.Ser27514=) c.64158T>C (p.Ser21386=) c.85653T>C (p.Ser28551=) c.85650T>C (p.Ser28550=) c.85083T>C (p.Ser28361=) c.82425T>C (p.Ser27475=) c.82344T>C (p.Ser27448=) c.64107T>C (p.Ser21369=) c.53961T>C (p.Ser17987=) | |
| 2 | g.178551688A>T | CA430245072 | TTN,TTN-AS1 | c.83508T>A (p.Ser27836=) c.64593T>A (p.Ser21531=) c.64392T>A (p.Ser21464=) c.64017T>A (p.Ser21339=) c.91212T>A (p.Ser30404=) c.86289T>A (p.Ser28763=) n.447-19612A>T n.2043+9327A>T c.90309T>A (p.Ser30103=) c.64203T>A (p.Ser21401=) c.64062T>A (p.Ser21354=) c.90105T>A (p.Ser30035=) c.85503T>A (p.Ser28501=) c.85500T>A (p.Ser28500=) c.82542T>A (p.Ser27514=) c.64158T>A (p.Ser21386=) c.85653T>A (p.Ser28551=) c.85650T>A (p.Ser28550=) c.85083T>A (p.Ser28361=) c.82425T>A (p.Ser27475=) c.82344T>A (p.Ser27448=) c.64107T>A (p.Ser21369=) c.53961T>A (p.Ser17987=) | |
| 2 | g.178551689G>A | CA349502946 | TTN,TTN-AS1 | c.83507C>T (p.Ser27836Phe) c.64592C>T (p.Ser21531Phe) c.64391C>T (p.Ser21464Phe) c.64016C>T (p.Ser21339Phe) c.91211C>T (p.Ser30404Phe) c.86288C>T (p.Ser28763Phe) n.447-19611G>A n.2043+9328G>A c.90308C>T (p.Ser30103Phe) c.64202C>T (p.Ser21401Phe) c.64061C>T (p.Ser21354Phe) c.90104C>T (p.Ser30035Phe) c.85502C>T (p.Ser28501Phe) c.85499C>T (p.Ser28500Phe) c.82541C>T (p.Ser27514Phe) c.64157C>T (p.Ser21386Phe) c.85652C>T (p.Ser28551Phe) c.85649C>T (p.Ser28550Phe) c.85082C>T (p.Ser28361Phe) c.82424C>T (p.Ser27475Phe) c.82343C>T (p.Ser27448Phe) c.64106C>T (p.Ser21369Phe) c.53960C>T (p.Ser17987Phe) | gnomAD v4 |
| 2 | g.178551689G>C | CA349502948 | TTN,TTN-AS1 | c.83507C>G (p.Ser27836Cys) c.64592C>G (p.Ser21531Cys) c.64391C>G (p.Ser21464Cys) c.64016C>G (p.Ser21339Cys) c.91211C>G (p.Ser30404Cys) c.86288C>G (p.Ser28763Cys) n.447-19611G>C n.2043+9328G>C c.90308C>G (p.Ser30103Cys) c.64202C>G (p.Ser21401Cys) c.64061C>G (p.Ser21354Cys) c.90104C>G (p.Ser30035Cys) c.85502C>G (p.Ser28501Cys) c.85499C>G (p.Ser28500Cys) c.82541C>G (p.Ser27514Cys) c.64157C>G (p.Ser21386Cys) c.85652C>G (p.Ser28551Cys) c.85649C>G (p.Ser28550Cys) c.85082C>G (p.Ser28361Cys) c.82424C>G (p.Ser27475Cys) c.82343C>G (p.Ser27448Cys) c.64106C>G (p.Ser21369Cys) c.53960C>G (p.Ser17987Cys) | |
| 2 | g.178551689G>T | CA349502949 | TTN,TTN-AS1 | c.83507C>A (p.Ser27836Tyr) c.64592C>A (p.Ser21531Tyr) c.64391C>A (p.Ser21464Tyr) c.64016C>A (p.Ser21339Tyr) c.91211C>A (p.Ser30404Tyr) c.86288C>A (p.Ser28763Tyr) n.447-19611G>T n.2043+9328G>T c.90308C>A (p.Ser30103Tyr) c.64202C>A (p.Ser21401Tyr) c.64061C>A (p.Ser21354Tyr) c.90104C>A (p.Ser30035Tyr) c.85502C>A (p.Ser28501Tyr) c.85499C>A (p.Ser28500Tyr) c.82541C>A (p.Ser27514Tyr) c.64157C>A (p.Ser21386Tyr) c.85652C>A (p.Ser28551Tyr) c.85649C>A (p.Ser28550Tyr) c.85082C>A (p.Ser28361Tyr) c.82424C>A (p.Ser27475Tyr) c.82343C>A (p.Ser27448Tyr) c.64106C>A (p.Ser21369Tyr) c.53960C>A (p.Ser17987Tyr) |