| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178776983C>A | CA349459839 | TTN | c.4881G>T (p.Trp1627Cys) c.4743G>T (p.Trp1581Cys) n.58C>A c.4929G>T (p.Trp1643Cys) c.4788G>T (p.Trp1596Cys) c.4926G>T (p.Trp1642Cys) c.4884G>T (p.Trp1628Cys) | |
| 2 | g.178776983C>G | CA349459863 | TTN | c.4881G>C (p.Trp1627Cys) c.4743G>C (p.Trp1581Cys) n.58C>G c.4929G>C (p.Trp1643Cys) c.4788G>C (p.Trp1596Cys) c.4926G>C (p.Trp1642Cys) c.4884G>C (p.Trp1628Cys) | |
| 2 | g.178776983C>T | CA349459864 | TTN | c.4881G>A (p.Trp1627Ter) c.4743G>A (p.Trp1581Ter) n.58C>T c.4929G>A (p.Trp1643Ter) c.4788G>A (p.Trp1596Ter) c.4926G>A (p.Trp1642Ter) c.4884G>A (p.Trp1628Ter) | gnomAD v4 |
| 2 | g.178776984C>A | CA349459865 | TTN | c.4880G>T (p.Trp1627Leu) c.4742G>T (p.Trp1581Leu) n.59C>A c.4928G>T (p.Trp1643Leu) c.4787G>T (p.Trp1596Leu) c.4925G>T (p.Trp1642Leu) c.4883G>T (p.Trp1628Leu) | |
| 2 | g.178776984C= | CA1310617857 | TTN | c.4880G= (p.Trp1627=) c.4742G= (p.Trp1581=) n.59C= c.4928G= (p.Trp1643=) c.4787G= (p.Trp1596=) c.4925G= (p.Trp1642=) c.4883G= (p.Trp1628=) | |
| 2 | g.178776984C>G | CA349459868 | TTN | c.4880G>C (p.Trp1627Ser) c.4742G>C (p.Trp1581Ser) n.59C>G c.4928G>C (p.Trp1643Ser) c.4787G>C (p.Trp1596Ser) c.4925G>C (p.Trp1642Ser) c.4883G>C (p.Trp1628Ser) | gnomAD v4 |
| 2 | g.178776984C>T | CA2005250 | TTN | c.4880G>A (p.Trp1627Ter) c.4742G>A (p.Trp1581Ter) n.59C>T c.4928G>A (p.Trp1643Ter) c.4787G>A (p.Trp1596Ter) c.4925G>A (p.Trp1642Ter) c.4883G>A (p.Trp1628Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178776985A>C | CA349459871 | TTN | c.4879T>G (p.Trp1627Gly) c.4741T>G (p.Trp1581Gly) n.60A>C c.4927T>G (p.Trp1643Gly) c.4786T>G (p.Trp1596Gly) c.4924T>G (p.Trp1642Gly) c.4882T>G (p.Trp1628Gly) | |
| 2 | g.178776985A>G | CA349459877 | TTN | c.4879T>C (p.Trp1627Arg) c.4741T>C (p.Trp1581Arg) n.60A>G c.4927T>C (p.Trp1643Arg) c.4786T>C (p.Trp1596Arg) c.4924T>C (p.Trp1642Arg) c.4882T>C (p.Trp1628Arg) | |
| 2 | g.178776985A>T | CA349459872 | TTN | c.4879T>A (p.Trp1627Arg) c.4741T>A (p.Trp1581Arg) n.60A>T c.4927T>A (p.Trp1643Arg) c.4786T>A (p.Trp1596Arg) c.4924T>A (p.Trp1642Arg) c.4882T>A (p.Trp1628Arg) | gnomAD v4 |
| 2 | g.178776986G>A | CA430280524 | TTN | c.4878C>T (p.Ala1626=) c.4740C>T (p.Ala1580=) n.61G>A c.4926C>T (p.Ala1642=) c.4785C>T (p.Ala1595=) c.4923C>T (p.Ala1641=) c.4881C>T (p.Ala1627=) | gnomAD v4 |
| 2 | g.178776986G>C | CA430280526 | TTN | c.4878C>G (p.Ala1626=) c.4740C>G (p.Ala1580=) n.61G>C c.4926C>G (p.Ala1642=) c.4785C>G (p.Ala1595=) c.4923C>G (p.Ala1641=) c.4881C>G (p.Ala1627=) | |
| 2 | g.178776986G>T | CA430280528 | TTN | c.4878C>A (p.Ala1626=) c.4740C>A (p.Ala1580=) n.61G>T c.4926C>A (p.Ala1642=) c.4785C>A (p.Ala1595=) c.4923C>A (p.Ala1641=) c.4881C>A (p.Ala1627=) | |
| 2 | g.178776987G>A | CA349459884 | TTN | c.4877C>T (p.Ala1626Val) c.4739C>T (p.Ala1580Val) n.62G>A c.4925C>T (p.Ala1642Val) c.4784C>T (p.Ala1595Val) c.4922C>T (p.Ala1641Val) c.4880C>T (p.Ala1627Val) | gnomAD v4 |
| 2 | g.178776987G>C | CA349459893 | TTN | c.4877C>G (p.Ala1626Gly) c.4739C>G (p.Ala1580Gly) n.62G>C c.4925C>G (p.Ala1642Gly) c.4784C>G (p.Ala1595Gly) c.4922C>G (p.Ala1641Gly) c.4880C>G (p.Ala1627Gly) | |
| 2 | g.178776987G>T | CA349459888 | TTN | c.4877C>A (p.Ala1626Asp) c.4739C>A (p.Ala1580Asp) n.62G>T c.4925C>A (p.Ala1642Asp) c.4784C>A (p.Ala1595Asp) c.4922C>A (p.Ala1641Asp) c.4880C>A (p.Ala1627Asp) | |
| 2 | g.178776988C>A | CA349459897 | TTN | c.4876G>T (p.Ala1626Ser) c.4738G>T (p.Ala1580Ser) n.63C>A c.4924G>T (p.Ala1642Ser) c.4783G>T (p.Ala1595Ser) c.4921G>T (p.Ala1641Ser) c.4879G>T (p.Ala1627Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178776988C= | CA1310617858 | TTN | c.4876G= (p.Ala1626=) c.4738G= (p.Ala1580=) n.63C= c.4924G= (p.Ala1642=) c.4783G= (p.Ala1595=) c.4921G= (p.Ala1641=) c.4879G= (p.Ala1627=) | |
| 2 | g.178776988C>G | CA349459899 | TTN | c.4876G>C (p.Ala1626Pro) c.4738G>C (p.Ala1580Pro) n.63C>G c.4924G>C (p.Ala1642Pro) c.4783G>C (p.Ala1595Pro) c.4921G>C (p.Ala1641Pro) c.4879G>C (p.Ala1627Pro) | |
| 2 | g.178776988C>T | CA349459901 | TTN | c.4876G>A (p.Ala1626Thr) c.4738G>A (p.Ala1580Thr) n.63C>T c.4924G>A (p.Ala1642Thr) c.4783G>A (p.Ala1595Thr) c.4921G>A (p.Ala1641Thr) c.4879G>A (p.Ala1627Thr) | dbSNP |
| 2 | g.178776989A>C | CA430280533 | TTN | c.4875T>G (p.Ser1625=) c.4737T>G (p.Ser1579=) n.64A>C c.4923T>G (p.Ser1641=) c.4782T>G (p.Ser1594=) c.4920T>G (p.Ser1640=) c.4878T>G (p.Ser1626=) | |
| 2 | g.178776989A>G | CA430280536 | TTN | c.4875T>C (p.Ser1625=) c.4737T>C (p.Ser1579=) n.64A>G c.4923T>C (p.Ser1641=) c.4782T>C (p.Ser1594=) c.4920T>C (p.Ser1640=) c.4878T>C (p.Ser1626=) | |
| 2 | g.178776989A>T | CA430280535 | TTN | c.4875T>A (p.Ser1625=) c.4737T>A (p.Ser1579=) n.64A>T c.4923T>A (p.Ser1641=) c.4782T>A (p.Ser1594=) c.4920T>A (p.Ser1640=) c.4878T>A (p.Ser1626=) | |
| 2 | g.178776990G>A | CA349459905 | TTN | c.4874C>T (p.Ser1625Phe) c.4736C>T (p.Ser1579Phe) n.65G>A c.4922C>T (p.Ser1641Phe) c.4781C>T (p.Ser1594Phe) c.4919C>T (p.Ser1640Phe) c.4877C>T (p.Ser1626Phe) | |
| 2 | g.178776990G>C | CA183649 | TTN | c.4874C>G (p.Ser1625Cys) c.4736C>G (p.Ser1579Cys) n.65G>C c.4922C>G (p.Ser1641Cys) c.4781C>G (p.Ser1594Cys) c.4919C>G (p.Ser1640Cys) c.4877C>G (p.Ser1626Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178776990G= | CA1310617859 | TTN | c.4874C= (p.Ser1625=) c.4736C= (p.Ser1579=) n.65G= c.4922C= (p.Ser1641=) c.4781C= (p.Ser1594=) c.4919C= (p.Ser1640=) c.4877C= (p.Ser1626=) | |
| 2 | g.178776990G>T | CA349459916 | TTN | c.4874C>A (p.Ser1625Tyr) c.4736C>A (p.Ser1579Tyr) n.65G>T c.4922C>A (p.Ser1641Tyr) c.4781C>A (p.Ser1594Tyr) c.4919C>A (p.Ser1640Tyr) c.4877C>A (p.Ser1626Tyr) | |
| 2 | g.178776991A>C | CA349459923 | TTN | c.4873T>G (p.Ser1625Ala) c.4735T>G (p.Ser1579Ala) n.66A>C c.4921T>G (p.Ser1641Ala) c.4780T>G (p.Ser1594Ala) c.4918T>G (p.Ser1640Ala) c.4876T>G (p.Ser1626Ala) | |
| 2 | g.178776991A>G | CA349459930 | TTN | c.4873T>C (p.Ser1625Pro) c.4735T>C (p.Ser1579Pro) n.66A>G c.4921T>C (p.Ser1641Pro) c.4780T>C (p.Ser1594Pro) c.4918T>C (p.Ser1640Pro) c.4876T>C (p.Ser1626Pro) | |
| 2 | g.178776991A>T | CA349459935 | TTN | c.4873T>A (p.Ser1625Thr) c.4735T>A (p.Ser1579Thr) n.66A>T c.4921T>A (p.Ser1641Thr) c.4780T>A (p.Ser1594Thr) c.4918T>A (p.Ser1640Thr) c.4876T>A (p.Ser1626Thr) | |
| 2 | g.178776992A>C | CA349459943 | TTN | c.4872T>G (p.Asp1624Glu) c.4734T>G (p.Asp1578Glu) n.67A>C c.4920T>G (p.Asp1640Glu) c.4779T>G (p.Asp1593Glu) c.4917T>G (p.Asp1639Glu) c.4875T>G (p.Asp1625Glu) | |
| 2 | g.178776992A>G | CA430280548 | TTN | c.4872T>C (p.Asp1624=) c.4734T>C (p.Asp1578=) n.67A>G c.4920T>C (p.Asp1640=) c.4779T>C (p.Asp1593=) c.4917T>C (p.Asp1639=) c.4875T>C (p.Asp1625=) | |
| 2 | g.178776992A>T | CA349459947 | TTN | c.4872T>A (p.Asp1624Glu) c.4734T>A (p.Asp1578Glu) n.67A>T c.4920T>A (p.Asp1640Glu) c.4779T>A (p.Asp1593Glu) c.4917T>A (p.Asp1639Glu) c.4875T>A (p.Asp1625Glu) | |
| 2 | g.178776993T>A | CA349459969 | TTN | c.4871A>T (p.Asp1624Val) c.4733A>T (p.Asp1578Val) n.68T>A c.4919A>T (p.Asp1640Val) c.4778A>T (p.Asp1593Val) c.4916A>T (p.Asp1639Val) c.4874A>T (p.Asp1625Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178776993T>C | CA349459956 | TTN | c.4871A>G (p.Asp1624Gly) c.4733A>G (p.Asp1578Gly) n.68T>C c.4919A>G (p.Asp1640Gly) c.4778A>G (p.Asp1593Gly) c.4916A>G (p.Asp1639Gly) c.4874A>G (p.Asp1625Gly) | |
| 2 | g.178776993T>G | CA349459965 | TTN | c.4871A>C (p.Asp1624Ala) c.4733A>C (p.Asp1578Ala) n.68T>G c.4919A>C (p.Asp1640Ala) c.4778A>C (p.Asp1593Ala) c.4916A>C (p.Asp1639Ala) c.4874A>C (p.Asp1625Ala) | |
| 2 | g.178776993T= | CA1310617860 | TTN | c.4871A= (p.Asp1624=) c.4733A= (p.Asp1578=) n.68T= c.4919A= (p.Asp1640=) c.4778A= (p.Asp1593=) c.4916A= (p.Asp1639=) c.4874A= (p.Asp1625=) | |
| 2 | g.178776994C>A | CA349459975 | TTN | c.4870G>T (p.Asp1624Tyr) c.4732G>T (p.Asp1578Tyr) n.69C>A c.4918G>T (p.Asp1640Tyr) c.4777G>T (p.Asp1593Tyr) c.4915G>T (p.Asp1639Tyr) c.4873G>T (p.Asp1625Tyr) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178776994C>G | CA349459978 | TTN | c.4870G>C (p.Asp1624His) c.4732G>C (p.Asp1578His) n.69C>G c.4918G>C (p.Asp1640His) c.4777G>C (p.Asp1593His) c.4915G>C (p.Asp1639His) c.4873G>C (p.Asp1625His) | |
| 2 | g.178776994C>T | CA349459985 | TTN | c.4870G>A (p.Asp1624Asn) c.4732G>A (p.Asp1578Asn) n.69C>T c.4918G>A (p.Asp1640Asn) c.4777G>A (p.Asp1593Asn) c.4915G>A (p.Asp1639Asn) c.4873G>A (p.Asp1625Asn) | gnomAD v4 |
| 2 | g.178776995T>A | CA349459993 | TTN | c.4869A>T (p.Gln1623His) c.4731A>T (p.Gln1577His) n.70T>A c.4917A>T (p.Gln1639His) c.4776A>T (p.Gln1592His) c.4914A>T (p.Gln1638His) c.4872A>T (p.Gln1624His) | |
| 2 | g.178776995T>C | CA430280556 | TTN | c.4869A>G (p.Gln1623=) c.4731A>G (p.Gln1577=) n.70T>C c.4917A>G (p.Gln1639=) c.4776A>G (p.Gln1592=) c.4914A>G (p.Gln1638=) c.4872A>G (p.Gln1624=) | |
| 2 | g.178776995T>G | CA349459995 | TTN | c.4869A>C (p.Gln1623His) c.4731A>C (p.Gln1577His) n.70T>G c.4917A>C (p.Gln1639His) c.4776A>C (p.Gln1592His) c.4914A>C (p.Gln1638His) c.4872A>C (p.Gln1624His) | |
| 2 | g.178776996del | CA2577175037 | TTN | c.4869del (p.Asp1624IlefsTer22) c.4731del (p.Asp1578IlefsTer22) n.71del c.4917del (p.Asp1640IlefsTer22) c.4776del (p.Asp1593IlefsTer22) c.4914del (p.Asp1639IlefsTer22) c.4872del (p.Asp1625IlefsTer22) | |
| 2 | g.178776996T>A | CA349459999 | TTN | c.4868A>T (p.Gln1623Leu) c.4730A>T (p.Gln1577Leu) n.71T>A c.4916A>T (p.Gln1639Leu) c.4775A>T (p.Gln1592Leu) c.4913A>T (p.Gln1638Leu) c.4871A>T (p.Gln1624Leu) | |
| 2 | g.178776996T>C | CA349460006 | TTN | c.4868A>G (p.Gln1623Arg) c.4730A>G (p.Gln1577Arg) n.71T>C c.4916A>G (p.Gln1639Arg) c.4775A>G (p.Gln1592Arg) c.4913A>G (p.Gln1638Arg) c.4871A>G (p.Gln1624Arg) | |
| 2 | g.178776996T>G | CA349460016 | TTN | c.4868A>C (p.Gln1623Pro) c.4730A>C (p.Gln1577Pro) n.71T>G c.4916A>C (p.Gln1639Pro) c.4775A>C (p.Gln1592Pro) c.4913A>C (p.Gln1638Pro) c.4871A>C (p.Gln1624Pro) | |
| 2 | g.178776997G>A | CA349460017 | TTN | c.4867C>T (p.Gln1623Ter) c.4729C>T (p.Gln1577Ter) n.72G>A c.4915C>T (p.Gln1639Ter) c.4774C>T (p.Gln1592Ter) c.4912C>T (p.Gln1638Ter) c.4870C>T (p.Gln1624Ter) | |
| 2 | g.178776997G>C | CA349460019 | TTN | c.4867C>G (p.Gln1623Glu) c.4729C>G (p.Gln1577Glu) n.72G>C c.4915C>G (p.Gln1639Glu) c.4774C>G (p.Gln1592Glu) c.4912C>G (p.Gln1638Glu) c.4870C>G (p.Gln1624Glu) | |
| 2 | g.178776997G>T | CA349460020 | TTN | c.4867C>A (p.Gln1623Lys) c.4729C>A (p.Gln1577Lys) n.72G>T c.4915C>A (p.Gln1639Lys) c.4774C>A (p.Gln1592Lys) c.4912C>A (p.Gln1638Lys) c.4870C>A (p.Gln1624Lys) |