| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | dbSNP |
| 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) | dbSNP 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= | CA3098920963 | TTN | c.4865G= (p.Ser1622=) c.4727G= (p.Ser1576=) n.74C= c.4913G= (p.Ser1638=) c.4772G= (p.Ser1591=) c.4910G= (p.Ser1637=) c.4868G= (p.Ser1623=) | dbSNP |
| 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) | dbSNP 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=) | dbSNP |
| 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=) | dbSNP |
| 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=) | dbSNP |
| 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) | dbSNP 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= | CA3098920966 | TTN | c.4859C= (p.Thr1620=) c.4721C= (p.Thr1574=) n.80G= c.4907C= (p.Thr1636=) c.4766C= (p.Thr1589=) c.4904C= (p.Thr1635=) c.4862C= (p.Thr1621=) | dbSNP |
| 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) | |
| 2 | g.178777006T>C | CA349460130 | TTN | c.4858A>G (p.Thr1620Ala) c.4720A>G (p.Thr1574Ala) n.81T>C c.4906A>G (p.Thr1636Ala) c.4765A>G (p.Thr1589Ala) c.4903A>G (p.Thr1635Ala) c.4861A>G (p.Thr1621Ala) | dbSNP gnomAD v4 |
| 2 | g.178777006T>G | CA349460137 | TTN | c.4858A>C (p.Thr1620Pro) c.4720A>C (p.Thr1574Pro) n.81T>G c.4906A>C (p.Thr1636Pro) c.4765A>C (p.Thr1589Pro) c.4903A>C (p.Thr1635Pro) c.4861A>C (p.Thr1621Pro) | |
| 2 | g.178777006T= | CA3098920983 | TTN | c.4858A= (p.Thr1620=) c.4720A= (p.Thr1574=) n.81T= c.4906A= (p.Thr1636=) c.4765A= (p.Thr1589=) c.4903A= (p.Thr1635=) c.4861A= (p.Thr1621=) | dbSNP |
| 2 | g.178777007_178777011del | CA3260660440 | TTN | c.4854_4858del (p.Ser1619CysfsTer14) c.4716_4720del (p.Ser1573CysfsTer14) n.82_86del c.4902_4906del (p.Ser1635CysfsTer14) c.4761_4765del (p.Ser1588CysfsTer14) c.4899_4903del (p.Ser1634CysfsTer14) c.4857_4861del (p.Ser1620CysfsTer14) | ClinVar |
| 2 | g.178777007G>A | CA430280587 | TTN | c.4857C>T (p.Ser1619=) c.4719C>T (p.Ser1573=) n.82G>A c.4905C>T (p.Ser1635=) c.4764C>T (p.Ser1588=) c.4902C>T (p.Ser1634=) c.4860C>T (p.Ser1620=) | |
| 2 | g.178777007G>C | CA430280588 | TTN | c.4857C>G (p.Ser1619=) c.4719C>G (p.Ser1573=) n.82G>C c.4905C>G (p.Ser1635=) c.4764C>G (p.Ser1588=) c.4902C>G (p.Ser1634=) c.4860C>G (p.Ser1620=) | |
| 2 | g.178777007G>T | CA430280589 | TTN | c.4857C>A (p.Ser1619=) c.4719C>A (p.Ser1573=) n.82G>T c.4905C>A (p.Ser1635=) c.4764C>A (p.Ser1588=) c.4902C>A (p.Ser1634=) c.4860C>A (p.Ser1620=) | |
| 2 | g.178777008G>A | CA349460140 | TTN | c.4856C>T (p.Ser1619Phe) c.4718C>T (p.Ser1573Phe) n.83G>A c.4904C>T (p.Ser1635Phe) c.4763C>T (p.Ser1588Phe) c.4901C>T (p.Ser1634Phe) c.4859C>T (p.Ser1620Phe) | |
| 2 | g.178777008G>C | CA349460151 | TTN | c.4856C>G (p.Ser1619Cys) c.4718C>G (p.Ser1573Cys) n.83G>C c.4904C>G (p.Ser1635Cys) c.4763C>G (p.Ser1588Cys) c.4901C>G (p.Ser1634Cys) c.4859C>G (p.Ser1620Cys) | |
| 2 | g.178777008G>T | CA349460156 | TTN | c.4856C>A (p.Ser1619Tyr) c.4718C>A (p.Ser1573Tyr) n.83G>T c.4904C>A (p.Ser1635Tyr) c.4763C>A (p.Ser1588Tyr) c.4901C>A (p.Ser1634Tyr) c.4859C>A (p.Ser1620Tyr) | |
| 2 | g.178777009A= | CA3098920985 | TTN | c.4855T= (p.Ser1619=) c.4717T= (p.Ser1573=) n.84A= c.4903T= (p.Ser1635=) c.4762T= (p.Ser1588=) c.4900T= (p.Ser1634=) c.4858T= (p.Ser1620=) | dbSNP |
| 2 | g.178777009A>C | CA349460161 | TTN | c.4855T>G (p.Ser1619Ala) c.4717T>G (p.Ser1573Ala) n.84A>C c.4903T>G (p.Ser1635Ala) c.4762T>G (p.Ser1588Ala) c.4900T>G (p.Ser1634Ala) c.4858T>G (p.Ser1620Ala) | dbSNP gnomAD v4 |
| 2 | g.178777009A>G | CA349460164 | TTN | c.4855T>C (p.Ser1619Pro) c.4717T>C (p.Ser1573Pro) n.84A>G c.4903T>C (p.Ser1635Pro) c.4762T>C (p.Ser1588Pro) c.4900T>C (p.Ser1634Pro) c.4858T>C (p.Ser1620Pro) | |
| 2 | g.178777009A>T | CA349460163 | TTN | c.4855T>A (p.Ser1619Thr) c.4717T>A (p.Ser1573Thr) n.84A>T c.4903T>A (p.Ser1635Thr) c.4762T>A (p.Ser1588Thr) c.4900T>A (p.Ser1634Thr) c.4858T>A (p.Ser1620Thr) | |
| 2 | g.178777010A>C | CA349460165 | TTN | c.4854T>G (p.Asp1618Glu) c.4716T>G (p.Asp1572Glu) n.85A>C c.4902T>G (p.Asp1634Glu) c.4761T>G (p.Asp1587Glu) c.4899T>G (p.Asp1633Glu) c.4857T>G (p.Asp1619Glu) | |
| 2 | g.178777010A>G | CA430280600 | TTN | c.4854T>C (p.Asp1618=) c.4716T>C (p.Asp1572=) n.85A>G c.4902T>C (p.Asp1634=) c.4761T>C (p.Asp1587=) c.4899T>C (p.Asp1633=) c.4857T>C (p.Asp1619=) | |
| 2 | g.178777010A>T | CA349460166 | TTN | c.4854T>A (p.Asp1618Glu) c.4716T>A (p.Asp1572Glu) n.85A>T c.4902T>A (p.Asp1634Glu) c.4761T>A (p.Asp1587Glu) c.4899T>A (p.Asp1633Glu) c.4857T>A (p.Asp1619Glu) | |
| 2 | g.178777011T>A | CA349460175 | TTN | c.4853A>T (p.Asp1618Val) c.4715A>T (p.Asp1572Val) n.86T>A c.4901A>T (p.Asp1634Val) c.4760A>T (p.Asp1587Val) c.4898A>T (p.Asp1633Val) c.4856A>T (p.Asp1619Val) |