| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 2 | g.178776998G>A | CA430280572 | TTN | c.4866C>T (p.Ser1622=) c.4728C>T (p.Ser1576=) n.73G>A c.4914C>T (p.Ser1638=) c.4773C>T (p.Ser1591=) c.4911C>T (p.Ser1637=) c.4869C>T (p.Ser1623=) | |
| 2 | g.178776998G>C | CA349460026 | TTN | c.4866C>G (p.Ser1622Arg) c.4728C>G (p.Ser1576Arg) n.73G>C c.4914C>G (p.Ser1638Arg) c.4773C>G (p.Ser1591Arg) c.4911C>G (p.Ser1637Arg) c.4869C>G (p.Ser1623Arg) | dbSNP |
| 2 | g.178776998G= | CA1310617861 | TTN | c.4866C= (p.Ser1622=) c.4728C= (p.Ser1576=) n.73G= c.4914C= (p.Ser1638=) c.4773C= (p.Ser1591=) c.4911C= (p.Ser1637=) c.4869C= (p.Ser1623=) | |
| 2 | g.178776998G>T | CA349460023 | TTN | c.4866C>A (p.Ser1622Arg) c.4728C>A (p.Ser1576Arg) n.73G>T c.4914C>A (p.Ser1638Arg) c.4773C>A (p.Ser1591Arg) c.4911C>A (p.Ser1637Arg) c.4869C>A (p.Ser1623Arg) | gnomAD v4 |
| 2 | g.178776999C>A | CA349460031 | TTN | c.4865G>T (p.Ser1622Ile) c.4727G>T (p.Ser1576Ile) n.74C>A c.4913G>T (p.Ser1638Ile) c.4772G>T (p.Ser1591Ile) c.4910G>T (p.Ser1637Ile) c.4868G>T (p.Ser1623Ile) | |
| 2 | g.178776999C>G | CA349460032 | TTN | c.4865G>C (p.Ser1622Thr) c.4727G>C (p.Ser1576Thr) n.74C>G c.4913G>C (p.Ser1638Thr) c.4772G>C (p.Ser1591Thr) c.4910G>C (p.Ser1637Thr) c.4868G>C (p.Ser1623Thr) | |
| 2 | g.178776999C>T | CA349460033 | TTN | c.4865G>A (p.Ser1622Asn) c.4727G>A (p.Ser1576Asn) n.74C>T c.4913G>A (p.Ser1638Asn) c.4772G>A (p.Ser1591Asn) c.4910G>A (p.Ser1637Asn) c.4868G>A (p.Ser1623Asn) | gnomAD v4 |
| 2 | g.178777000T>A | CA349460034 | TTN | c.4864A>T (p.Ser1622Cys) c.4726A>T (p.Ser1576Cys) n.75T>A c.4912A>T (p.Ser1638Cys) c.4771A>T (p.Ser1591Cys) c.4909A>T (p.Ser1637Cys) c.4867A>T (p.Ser1623Cys) | |
| 2 | g.178777000T>C | CA349460057 | TTN | c.4864A>G (p.Ser1622Gly) c.4726A>G (p.Ser1576Gly) n.75T>C c.4912A>G (p.Ser1638Gly) c.4771A>G (p.Ser1591Gly) c.4909A>G (p.Ser1637Gly) c.4867A>G (p.Ser1623Gly) | |
| 2 | g.178777000T>G | CA349460062 | TTN | c.4864A>C (p.Ser1622Arg) c.4726A>C (p.Ser1576Arg) n.75T>G c.4912A>C (p.Ser1638Arg) c.4771A>C (p.Ser1591Arg) c.4909A>C (p.Ser1637Arg) c.4867A>C (p.Ser1623Arg) | |
| 2 | g.178777001G>A | CA430280575 | TTN | c.4863C>T (p.Val1621=) c.4725C>T (p.Val1575=) n.76G>A c.4911C>T (p.Val1637=) c.4770C>T (p.Val1590=) c.4908C>T (p.Val1636=) c.4866C>T (p.Val1622=) | dbSNP |
| 2 | g.178777001G>C | CA430280576 | TTN | c.4863C>G (p.Val1621=) c.4725C>G (p.Val1575=) n.76G>C c.4911C>G (p.Val1637=) c.4770C>G (p.Val1590=) c.4908C>G (p.Val1636=) c.4866C>G (p.Val1622=) | |
| 2 | g.178777001G= | CA1310617862 | TTN | c.4863C= (p.Val1621=) c.4725C= (p.Val1575=) n.76G= c.4911C= (p.Val1637=) c.4770C= (p.Val1590=) c.4908C= (p.Val1636=) c.4866C= (p.Val1622=) | |
| 2 | g.178777001G>T | CA430280577 | TTN | c.4863C>A (p.Val1621=) c.4725C>A (p.Val1575=) n.76G>T c.4911C>A (p.Val1637=) c.4770C>A (p.Val1590=) c.4908C>A (p.Val1636=) c.4866C>A (p.Val1622=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178777002A= | CA1310617863 | TTN | c.4862T= (p.Val1621=) c.4724T= (p.Val1575=) n.77A= c.4910T= (p.Val1637=) c.4769T= (p.Val1590=) c.4907T= (p.Val1636=) c.4865T= (p.Val1622=) | |
| 2 | g.178777002A>C | CA349460070 | TTN | c.4862T>G (p.Val1621Gly) c.4724T>G (p.Val1575Gly) n.77A>C c.4910T>G (p.Val1637Gly) c.4769T>G (p.Val1590Gly) c.4907T>G (p.Val1636Gly) c.4865T>G (p.Val1622Gly) | dbSNP |
| 2 | g.178777002A>G | CA349460076 | TTN | c.4862T>C (p.Val1621Ala) c.4724T>C (p.Val1575Ala) n.77A>G c.4910T>C (p.Val1637Ala) c.4769T>C (p.Val1590Ala) c.4907T>C (p.Val1636Ala) c.4865T>C (p.Val1622Ala) | |
| 2 | g.178777002A>T | CA349460083 | TTN | c.4862T>A (p.Val1621Asp) c.4724T>A (p.Val1575Asp) n.77A>T c.4910T>A (p.Val1637Asp) c.4769T>A (p.Val1590Asp) c.4907T>A (p.Val1636Asp) c.4865T>A (p.Val1622Asp) | |
| 2 | g.178777003C>A | CA349460089 | TTN | c.4861G>T (p.Val1621Phe) c.4723G>T (p.Val1575Phe) n.78C>A c.4909G>T (p.Val1637Phe) c.4768G>T (p.Val1590Phe) c.4906G>T (p.Val1636Phe) c.4864G>T (p.Val1622Phe) | |
| 2 | g.178777003C>G | CA349460097 | TTN | c.4861G>C (p.Val1621Leu) c.4723G>C (p.Val1575Leu) n.78C>G c.4909G>C (p.Val1637Leu) c.4768G>C (p.Val1590Leu) c.4906G>C (p.Val1636Leu) c.4864G>C (p.Val1622Leu) | |
| 2 | g.178777003C>T | CA349460114 | TTN | c.4861G>A (p.Val1621Ile) c.4723G>A (p.Val1575Ile) n.78C>T c.4909G>A (p.Val1637Ile) c.4768G>A (p.Val1590Ile) c.4906G>A (p.Val1636Ile) c.4864G>A (p.Val1622Ile) | |
| 2 | g.178777004A= | CA1310617864 | TTN | c.4860T= (p.Thr1620=) c.4722T= (p.Thr1574=) n.79A= c.4908T= (p.Thr1636=) c.4767T= (p.Thr1589=) c.4905T= (p.Thr1635=) c.4863T= (p.Thr1621=) | |
| 2 | g.178777004A>C | CA430280583 | TTN | c.4860T>G (p.Thr1620=) c.4722T>G (p.Thr1574=) n.79A>C c.4908T>G (p.Thr1636=) c.4767T>G (p.Thr1589=) c.4905T>G (p.Thr1635=) c.4863T>G (p.Thr1621=) | |
| 2 | g.178777004A>G | CA60978142 | TTN | c.4860T>C (p.Thr1620=) c.4722T>C (p.Thr1574=) n.79A>G c.4908T>C (p.Thr1636=) c.4767T>C (p.Thr1589=) c.4905T>C (p.Thr1635=) c.4863T>C (p.Thr1621=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178777004A>T | CA430280584 | TTN | c.4860T>A (p.Thr1620=) c.4722T>A (p.Thr1574=) n.79A>T c.4908T>A (p.Thr1636=) c.4767T>A (p.Thr1589=) c.4905T>A (p.Thr1635=) c.4863T>A (p.Thr1621=) | |
| 2 | g.178777005del | CA2662158065 | TTN | c.4859del (p.Thr1620MetfsTer26) c.4721del (p.Thr1574MetfsTer26) n.80del c.4907del (p.Thr1636MetfsTer26) c.4766del (p.Thr1589MetfsTer26) c.4904del (p.Thr1635MetfsTer26) c.4862del (p.Thr1621MetfsTer26) | gnomAD v4 |
| 2 | g.178777005G>A | CA349460118 | TTN | c.4859C>T (p.Thr1620Ile) c.4721C>T (p.Thr1574Ile) n.80G>A c.4907C>T (p.Thr1636Ile) c.4766C>T (p.Thr1589Ile) c.4904C>T (p.Thr1635Ile) c.4862C>T (p.Thr1621Ile) | |
| 2 | g.178777005G>C | CA349460119 | TTN | c.4859C>G (p.Thr1620Ser) c.4721C>G (p.Thr1574Ser) n.80G>C c.4907C>G (p.Thr1636Ser) c.4766C>G (p.Thr1589Ser) c.4904C>G (p.Thr1635Ser) c.4862C>G (p.Thr1621Ser) | |
| 2 | g.178777005G>T | CA349460117 | TTN | c.4859C>A (p.Thr1620Asn) c.4721C>A (p.Thr1574Asn) n.80G>T c.4907C>A (p.Thr1636Asn) c.4766C>A (p.Thr1589Asn) c.4904C>A (p.Thr1635Asn) c.4862C>A (p.Thr1621Asn) | |
| 2 | g.178777006T>A | CA349460124 | TTN | c.4858A>T (p.Thr1620Ser) c.4720A>T (p.Thr1574Ser) n.81T>A c.4906A>T (p.Thr1636Ser) c.4765A>T (p.Thr1589Ser) c.4903A>T (p.Thr1635Ser) c.4861A>T (p.Thr1621Ser) |