Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.115046440A>C | CA374630600 | TNC | c.318-4099T>G c.3215-4099T>G (n.3215-4099T>G) c.4006T>G (p.Ser1336Ala) c.2038T>G (p.Ser680Ala) c.694T>G (p.Ser232Ala) c.4053T>G c.5095T>G (p.Ser1699Ala) c.4549T>G (p.Ser1517Ala) c.4307-4099T>G (n.4307-4099T>G) n.253-4099T>G n.40-4099T>G c.782T>G c.4822T>G (p.Ser1608Ala) c.4034-4099T>G (n.4034-4099T>G) c.3457T>G (p.Ser1153Ala) c.5371T>G (p.Ser1791Ala) c.3488-4099T>G (n.3488-4099T>G) c.5098T>G (p.Ser1700Ala) c.4552T>G (p.Ser1518Ala) c.4580-4099T>G (n.4580-4099T>G) c.4279T>G (p.Ser1427Ala) c.3761-4099T>G (n.3761-4099T>G) c.3730T>G (p.Ser1244Ala) c.5644T>G (p.Ser1882Ala) c.5368T>G (p.Ser1790Ala) | |
9 | g.115046440A>G | CA374630599 | TNC | c.318-4099T>C c.3215-4099T>C (n.3215-4099T>C) c.4006T>C (p.Ser1336Pro) c.2038T>C (p.Ser680Pro) c.694T>C (p.Ser232Pro) c.4053T>C c.5095T>C (p.Ser1699Pro) c.4549T>C (p.Ser1517Pro) c.4307-4099T>C (n.4307-4099T>C) n.253-4099T>C n.40-4099T>C c.782T>C c.4822T>C (p.Ser1608Pro) c.4034-4099T>C (n.4034-4099T>C) c.3457T>C (p.Ser1153Pro) c.5371T>C (p.Ser1791Pro) c.3488-4099T>C (n.3488-4099T>C) c.5098T>C (p.Ser1700Pro) c.4552T>C (p.Ser1518Pro) c.4580-4099T>C (n.4580-4099T>C) c.4279T>C (p.Ser1427Pro) c.3761-4099T>C (n.3761-4099T>C) c.3730T>C (p.Ser1244Pro) c.5644T>C (p.Ser1882Pro) c.5368T>C (p.Ser1790Pro) | gnomAD v4 |
9 | g.115046440A>T | CA374630598 | TNC | c.318-4099T>A c.3215-4099T>A (n.3215-4099T>A) c.4006T>A (p.Ser1336Thr) c.2038T>A (p.Ser680Thr) c.694T>A (p.Ser232Thr) c.4053T>A c.5095T>A (p.Ser1699Thr) c.4549T>A (p.Ser1517Thr) c.4307-4099T>A (n.4307-4099T>A) n.253-4099T>A n.40-4099T>A c.782T>A c.4822T>A (p.Ser1608Thr) c.4034-4099T>A (n.4034-4099T>A) c.3457T>A (p.Ser1153Thr) c.5371T>A (p.Ser1791Thr) c.3488-4099T>A (n.3488-4099T>A) c.5098T>A (p.Ser1700Thr) c.4552T>A (p.Ser1518Thr) c.4580-4099T>A (n.4580-4099T>A) c.4279T>A (p.Ser1427Thr) c.3761-4099T>A (n.3761-4099T>A) c.3730T>A (p.Ser1244Thr) c.5644T>A (p.Ser1882Thr) c.5368T>A (p.Ser1790Thr) | |
9 | g.115046441T>A | CA466912337 | TNC | c.318-4100A>T c.3215-4100A>T (n.3215-4100A>T) c.4005A>T (p.Arg1335=) c.2037A>T (p.Arg679=) c.693A>T (p.Arg231=) c.4052A>T c.5094A>T (p.Arg1698=) c.4548A>T (p.Arg1516=) c.4307-4100A>T (n.4307-4100A>T) n.253-4100A>T n.40-4100A>T c.781A>T c.4821A>T (p.Arg1607=) c.4034-4100A>T (n.4034-4100A>T) c.3456A>T (p.Arg1152=) c.5370A>T (p.Arg1790=) c.3488-4100A>T (n.3488-4100A>T) c.5097A>T (p.Arg1699=) c.4551A>T (p.Arg1517=) c.4580-4100A>T (n.4580-4100A>T) c.4278A>T (p.Arg1426=) c.3761-4100A>T (n.3761-4100A>T) c.3729A>T (p.Arg1243=) c.5643A>T (p.Arg1881=) c.5367A>T (p.Arg1789=) | |
9 | g.115046441T>C | CA466912338 | TNC | c.318-4100A>G c.3215-4100A>G (n.3215-4100A>G) c.4005A>G (p.Arg1335=) c.2037A>G (p.Arg679=) c.693A>G (p.Arg231=) c.4052A>G c.5094A>G (p.Arg1698=) c.4548A>G (p.Arg1516=) c.4307-4100A>G (n.4307-4100A>G) n.253-4100A>G n.40-4100A>G c.781A>G c.4821A>G (p.Arg1607=) c.4034-4100A>G (n.4034-4100A>G) c.3456A>G (p.Arg1152=) c.5370A>G (p.Arg1790=) c.3488-4100A>G (n.3488-4100A>G) c.5097A>G (p.Arg1699=) c.4551A>G (p.Arg1517=) c.4580-4100A>G (n.4580-4100A>G) c.4278A>G (p.Arg1426=) c.3761-4100A>G (n.3761-4100A>G) c.3729A>G (p.Arg1243=) c.5643A>G (p.Arg1881=) c.5367A>G (p.Arg1789=) | |
9 | g.115046441T>G | CA466912339 | TNC | c.318-4100A>C c.3215-4100A>C (n.3215-4100A>C) c.4005A>C (p.Arg1335=) c.2037A>C (p.Arg679=) c.693A>C (p.Arg231=) c.4052A>C c.5094A>C (p.Arg1698=) c.4548A>C (p.Arg1516=) c.4307-4100A>C (n.4307-4100A>C) n.253-4100A>C n.40-4100A>C c.781A>C c.4821A>C (p.Arg1607=) c.4034-4100A>C (n.4034-4100A>C) c.3456A>C (p.Arg1152=) c.5370A>C (p.Arg1790=) c.3488-4100A>C (n.3488-4100A>C) c.5097A>C (p.Arg1699=) c.4551A>C (p.Arg1517=) c.4580-4100A>C (n.4580-4100A>C) c.4278A>C (p.Arg1426=) c.3761-4100A>C (n.3761-4100A>C) c.3729A>C (p.Arg1243=) c.5643A>C (p.Arg1881=) c.5367A>C (p.Arg1789=) | |
9 | g.115046442C>A | CA374630601 | TNC | c.318-4101G>T c.3215-4101G>T (n.3215-4101G>T) c.4004G>T (p.Arg1335Leu) c.2036G>T (p.Arg679Leu) c.692G>T (p.Arg231Leu) c.4051G>T c.5093G>T (p.Arg1698Leu) c.4547G>T (p.Arg1516Leu) c.4307-4101G>T (n.4307-4101G>T) n.253-4101G>T n.40-4101G>T c.780G>T c.4820G>T (p.Arg1607Leu) c.4034-4101G>T (n.4034-4101G>T) c.3455G>T (p.Arg1152Leu) c.5369G>T (p.Arg1790Leu) c.3488-4101G>T (n.3488-4101G>T) c.5096G>T (p.Arg1699Leu) c.4550G>T (p.Arg1517Leu) c.4580-4101G>T (n.4580-4101G>T) c.4277G>T (p.Arg1426Leu) c.3761-4101G>T (n.3761-4101G>T) c.3728G>T (p.Arg1243Leu) c.5642G>T (p.Arg1881Leu) c.5366G>T (p.Arg1789Leu) | gnomAD v4 |
9 | g.115046442C= | CA1874118870 | TNC | c.318-4101G= c.3215-4101G= (n.3215-4101G=) c.4004G= (p.Arg1335=) c.2036G= (p.Arg679=) c.692G= (p.Arg231=) c.4051G= c.5093G= (p.Arg1698=) c.4547G= (p.Arg1516=) c.4307-4101G= (n.4307-4101G=) n.253-4101G= n.40-4101G= c.780G= c.4820G= (p.Arg1607=) c.4034-4101G= (n.4034-4101G=) c.3455G= (p.Arg1152=) c.5369G= (p.Arg1790=) c.3488-4101G= (n.3488-4101G=) c.5096G= (p.Arg1699=) c.4550G= (p.Arg1517=) c.4580-4101G= (n.4580-4101G=) c.4277G= (p.Arg1426=) c.3761-4101G= (n.3761-4101G=) c.3728G= (p.Arg1243=) c.5642G= (p.Arg1881=) c.5366G= (p.Arg1789=) | |
9 | g.115046442C>G | CA5207759 | TNC | c.318-4101G>C c.3215-4101G>C (n.3215-4101G>C) c.4004G>C (p.Arg1335Pro) c.2036G>C (p.Arg679Pro) c.692G>C (p.Arg231Pro) c.4051G>C c.5093G>C (p.Arg1698Pro) c.4547G>C (p.Arg1516Pro) c.4307-4101G>C (n.4307-4101G>C) n.253-4101G>C n.40-4101G>C c.780G>C c.4820G>C (p.Arg1607Pro) c.4034-4101G>C (n.4034-4101G>C) c.3455G>C (p.Arg1152Pro) c.5369G>C (p.Arg1790Pro) c.3488-4101G>C (n.3488-4101G>C) c.5096G>C (p.Arg1699Pro) c.4550G>C (p.Arg1517Pro) c.4580-4101G>C (n.4580-4101G>C) c.4277G>C (p.Arg1426Pro) c.3761-4101G>C (n.3761-4101G>C) c.3728G>C (p.Arg1243Pro) c.5642G>C (p.Arg1881Pro) c.5366G>C (p.Arg1789Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046442C>T | CA5207758 | TNC | c.318-4101G>A c.3215-4101G>A (n.3215-4101G>A) c.4004G>A (p.Arg1335Gln) c.2036G>A (p.Arg679Gln) c.692G>A (p.Arg231Gln) c.4051G>A c.5093G>A (p.Arg1698Gln) c.4547G>A (p.Arg1516Gln) c.4307-4101G>A (n.4307-4101G>A) n.253-4101G>A n.40-4101G>A c.780G>A c.4820G>A (p.Arg1607Gln) c.4034-4101G>A (n.4034-4101G>A) c.3455G>A (p.Arg1152Gln) c.5369G>A (p.Arg1790Gln) c.3488-4101G>A (n.3488-4101G>A) c.5096G>A (p.Arg1699Gln) c.4550G>A (p.Arg1517Gln) c.4580-4101G>A (n.4580-4101G>A) c.4277G>A (p.Arg1426Gln) c.3761-4101G>A (n.3761-4101G>A) c.3728G>A (p.Arg1243Gln) c.5642G>A (p.Arg1881Gln) c.5366G>A (p.Arg1789Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046443G>A | CA374630605 | TNC | c.318-4102C>T c.3215-4102C>T (n.3215-4102C>T) c.4003C>T (p.Arg1335Ter) c.2035C>T (p.Arg679Ter) c.691C>T (p.Arg231Ter) c.4050C>T c.5092C>T (p.Arg1698Ter) c.4546C>T (p.Arg1516Ter) c.4307-4102C>T (n.4307-4102C>T) n.253-4102C>T n.40-4102C>T c.779C>T c.4819C>T (p.Arg1607Ter) c.4034-4102C>T (n.4034-4102C>T) c.3454C>T (p.Arg1152Ter) c.5368C>T (p.Arg1790Ter) c.3488-4102C>T (n.3488-4102C>T) c.5095C>T (p.Arg1699Ter) c.4549C>T (p.Arg1517Ter) c.4580-4102C>T (n.4580-4102C>T) c.4276C>T (p.Arg1426Ter) c.3761-4102C>T (n.3761-4102C>T) c.3727C>T (p.Arg1243Ter) c.5641C>T (p.Arg1881Ter) c.5365C>T (p.Arg1789Ter) | dbSNP gnomAD v4 |
9 | g.115046443G>C | CA374630607 | TNC | c.318-4102C>G c.3215-4102C>G (n.3215-4102C>G) c.4003C>G (p.Arg1335Gly) c.2035C>G (p.Arg679Gly) c.691C>G (p.Arg231Gly) c.4050C>G c.5092C>G (p.Arg1698Gly) c.4546C>G (p.Arg1516Gly) c.4307-4102C>G (n.4307-4102C>G) n.253-4102C>G n.40-4102C>G c.779C>G c.4819C>G (p.Arg1607Gly) c.4034-4102C>G (n.4034-4102C>G) c.3454C>G (p.Arg1152Gly) c.5368C>G (p.Arg1790Gly) c.3488-4102C>G (n.3488-4102C>G) c.5095C>G (p.Arg1699Gly) c.4549C>G (p.Arg1517Gly) c.4580-4102C>G (n.4580-4102C>G) c.4276C>G (p.Arg1426Gly) c.3761-4102C>G (n.3761-4102C>G) c.3727C>G (p.Arg1243Gly) c.5641C>G (p.Arg1881Gly) c.5365C>G (p.Arg1789Gly) | |
9 | g.115046443G= | CA1874118871 | TNC | c.318-4102C= c.3215-4102C= (n.3215-4102C=) c.4003C= (p.Arg1335=) c.2035C= (p.Arg679=) c.691C= (p.Arg231=) c.4050C= c.5092C= (p.Arg1698=) c.4546C= (p.Arg1516=) c.4307-4102C= (n.4307-4102C=) n.253-4102C= n.40-4102C= c.779C= c.4819C= (p.Arg1607=) c.4034-4102C= (n.4034-4102C=) c.3454C= (p.Arg1152=) c.5368C= (p.Arg1790=) c.3488-4102C= (n.3488-4102C=) c.5095C= (p.Arg1699=) c.4549C= (p.Arg1517=) c.4580-4102C= (n.4580-4102C=) c.4276C= (p.Arg1426=) c.3761-4102C= (n.3761-4102C=) c.3727C= (p.Arg1243=) c.5641C= (p.Arg1881=) c.5365C= (p.Arg1789=) | |
9 | g.115046443G>T | CA466912340 | TNC | c.318-4102C>A c.3215-4102C>A (n.3215-4102C>A) c.4003C>A (p.Arg1335=) c.2035C>A (p.Arg679=) c.691C>A (p.Arg231=) c.4050C>A c.5092C>A (p.Arg1698=) c.4546C>A (p.Arg1516=) c.4307-4102C>A (n.4307-4102C>A) n.253-4102C>A n.40-4102C>A c.779C>A c.4819C>A (p.Arg1607=) c.4034-4102C>A (n.4034-4102C>A) c.3454C>A (p.Arg1152=) c.5368C>A (p.Arg1790=) c.3488-4102C>A (n.3488-4102C>A) c.5095C>A (p.Arg1699=) c.4549C>A (p.Arg1517=) c.4580-4102C>A (n.4580-4102C>A) c.4276C>A (p.Arg1426=) c.3761-4102C>A (n.3761-4102C>A) c.3727C>A (p.Arg1243=) c.5641C>A (p.Arg1881=) c.5365C>A (p.Arg1789=) | |
9 | g.115046444C>A | CA374630609 | TNC | c.318-4103G>T c.3215-4103G>T (n.3215-4103G>T) c.4002G>T (p.Arg1334Ser) c.2034G>T (p.Arg678Ser) c.690G>T (p.Arg230Ser) c.4049G>T c.5091G>T (p.Arg1697Ser) c.4545G>T (p.Arg1515Ser) c.4307-4103G>T (n.4307-4103G>T) n.253-4103G>T n.40-4103G>T c.778G>T c.4818G>T (p.Arg1606Ser) c.4034-4103G>T (n.4034-4103G>T) c.3453G>T (p.Arg1151Ser) c.5367G>T (p.Arg1789Ser) c.3488-4103G>T (n.3488-4103G>T) c.5094G>T (p.Arg1698Ser) c.4548G>T (p.Arg1516Ser) c.4580-4103G>T (n.4580-4103G>T) c.4275G>T (p.Arg1425Ser) c.3761-4103G>T (n.3761-4103G>T) c.3726G>T (p.Arg1242Ser) c.5640G>T (p.Arg1880Ser) c.5364G>T (p.Arg1788Ser) | |
9 | g.115046444C>G | CA374630610 | TNC | c.318-4103G>C c.3215-4103G>C (n.3215-4103G>C) c.4002G>C (p.Arg1334Ser) c.2034G>C (p.Arg678Ser) c.690G>C (p.Arg230Ser) c.4049G>C c.5091G>C (p.Arg1697Ser) c.4545G>C (p.Arg1515Ser) c.4307-4103G>C (n.4307-4103G>C) n.253-4103G>C n.40-4103G>C c.778G>C c.4818G>C (p.Arg1606Ser) c.4034-4103G>C (n.4034-4103G>C) c.3453G>C (p.Arg1151Ser) c.5367G>C (p.Arg1789Ser) c.3488-4103G>C (n.3488-4103G>C) c.5094G>C (p.Arg1698Ser) c.4548G>C (p.Arg1516Ser) c.4580-4103G>C (n.4580-4103G>C) c.4275G>C (p.Arg1425Ser) c.3761-4103G>C (n.3761-4103G>C) c.3726G>C (p.Arg1242Ser) c.5640G>C (p.Arg1880Ser) c.5364G>C (p.Arg1788Ser) | |
9 | g.115046444C>T | CA466912344 | TNC | c.318-4103G>A c.3215-4103G>A (n.3215-4103G>A) c.4002G>A (p.Arg1334=) c.2034G>A (p.Arg678=) c.690G>A (p.Arg230=) c.4049G>A c.5091G>A (p.Arg1697=) c.4545G>A (p.Arg1515=) c.4307-4103G>A (n.4307-4103G>A) n.253-4103G>A n.40-4103G>A c.778G>A c.4818G>A (p.Arg1606=) c.4034-4103G>A (n.4034-4103G>A) c.3453G>A (p.Arg1151=) c.5367G>A (p.Arg1789=) c.3488-4103G>A (n.3488-4103G>A) c.5094G>A (p.Arg1698=) c.4548G>A (p.Arg1516=) c.4580-4103G>A (n.4580-4103G>A) c.4275G>A (p.Arg1425=) c.3761-4103G>A (n.3761-4103G>A) c.3726G>A (p.Arg1242=) c.5640G>A (p.Arg1880=) c.5364G>A (p.Arg1788=) | |
9 | g.115046445C>A | CA374630611 | TNC | c.318-4104G>T c.3215-4104G>T (n.3215-4104G>T) c.4001G>T (p.Arg1334Met) c.2033G>T (p.Arg678Met) c.689G>T (p.Arg230Met) c.4048G>T c.5090G>T (p.Arg1697Met) c.4544G>T (p.Arg1515Met) c.4307-4104G>T (n.4307-4104G>T) n.253-4104G>T n.40-4104G>T c.777G>T c.4817G>T (p.Arg1606Met) c.4034-4104G>T (n.4034-4104G>T) c.3452G>T (p.Arg1151Met) c.5366G>T (p.Arg1789Met) c.3488-4104G>T (n.3488-4104G>T) c.5093G>T (p.Arg1698Met) c.4547G>T (p.Arg1516Met) c.4580-4104G>T (n.4580-4104G>T) c.4274G>T (p.Arg1425Met) c.3761-4104G>T (n.3761-4104G>T) c.3725G>T (p.Arg1242Met) c.5639G>T (p.Arg1880Met) c.5363G>T (p.Arg1788Met) | |
9 | g.115046445C>G | CA374630612 | TNC | c.318-4104G>C c.3215-4104G>C (n.3215-4104G>C) c.4001G>C (p.Arg1334Thr) c.2033G>C (p.Arg678Thr) c.689G>C (p.Arg230Thr) c.4048G>C c.5090G>C (p.Arg1697Thr) c.4544G>C (p.Arg1515Thr) c.4307-4104G>C (n.4307-4104G>C) n.253-4104G>C n.40-4104G>C c.777G>C c.4817G>C (p.Arg1606Thr) c.4034-4104G>C (n.4034-4104G>C) c.3452G>C (p.Arg1151Thr) c.5366G>C (p.Arg1789Thr) c.3488-4104G>C (n.3488-4104G>C) c.5093G>C (p.Arg1698Thr) c.4547G>C (p.Arg1516Thr) c.4580-4104G>C (n.4580-4104G>C) c.4274G>C (p.Arg1425Thr) c.3761-4104G>C (n.3761-4104G>C) c.3725G>C (p.Arg1242Thr) c.5639G>C (p.Arg1880Thr) c.5363G>C (p.Arg1788Thr) | |
9 | g.115046445C>T | CA374630614 | TNC | c.318-4104G>A c.3215-4104G>A (n.3215-4104G>A) c.4001G>A (p.Arg1334Lys) c.2033G>A (p.Arg678Lys) c.689G>A (p.Arg230Lys) c.4048G>A c.5090G>A (p.Arg1697Lys) c.4544G>A (p.Arg1515Lys) c.4307-4104G>A (n.4307-4104G>A) n.253-4104G>A n.40-4104G>A c.777G>A c.4817G>A (p.Arg1606Lys) c.4034-4104G>A (n.4034-4104G>A) c.3452G>A (p.Arg1151Lys) c.5366G>A (p.Arg1789Lys) c.3488-4104G>A (n.3488-4104G>A) c.5093G>A (p.Arg1698Lys) c.4547G>A (p.Arg1516Lys) c.4580-4104G>A (n.4580-4104G>A) c.4274G>A (p.Arg1425Lys) c.3761-4104G>A (n.3761-4104G>A) c.3725G>A (p.Arg1242Lys) c.5639G>A (p.Arg1880Lys) c.5363G>A (p.Arg1788Lys) | |
9 | g.115046446T>A | CA374630616 | TNC | c.318-4105A>T c.3215-4105A>T (n.3215-4105A>T) c.4000A>T (p.Arg1334Trp) c.2032A>T (p.Arg678Trp) c.688A>T (p.Arg230Trp) c.4047A>T c.5089A>T (p.Arg1697Trp) c.4543A>T (p.Arg1515Trp) c.4307-4105A>T (n.4307-4105A>T) n.253-4105A>T n.40-4105A>T c.776A>T c.4816A>T (p.Arg1606Trp) c.4034-4105A>T (n.4034-4105A>T) c.3451A>T (p.Arg1151Trp) c.5365A>T (p.Arg1789Trp) c.3488-4105A>T (n.3488-4105A>T) c.5092A>T (p.Arg1698Trp) c.4546A>T (p.Arg1516Trp) c.4580-4105A>T (n.4580-4105A>T) c.4273A>T (p.Arg1425Trp) c.3761-4105A>T (n.3761-4105A>T) c.3724A>T (p.Arg1242Trp) c.5638A>T (p.Arg1880Trp) c.5362A>T (p.Arg1788Trp) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046446T>C | CA374630618 | TNC | c.318-4105A>G c.3215-4105A>G (n.3215-4105A>G) c.4000A>G (p.Arg1334Gly) c.2032A>G (p.Arg678Gly) c.688A>G (p.Arg230Gly) c.4047A>G c.5089A>G (p.Arg1697Gly) c.4543A>G (p.Arg1515Gly) c.4307-4105A>G (n.4307-4105A>G) n.253-4105A>G n.40-4105A>G c.776A>G c.4816A>G (p.Arg1606Gly) c.4034-4105A>G (n.4034-4105A>G) c.3451A>G (p.Arg1151Gly) c.5365A>G (p.Arg1789Gly) c.3488-4105A>G (n.3488-4105A>G) c.5092A>G (p.Arg1698Gly) c.4546A>G (p.Arg1516Gly) c.4580-4105A>G (n.4580-4105A>G) c.4273A>G (p.Arg1425Gly) c.3761-4105A>G (n.3761-4105A>G) c.3724A>G (p.Arg1242Gly) c.5638A>G (p.Arg1880Gly) c.5362A>G (p.Arg1788Gly) | gnomAD v4 |
9 | g.115046446T>G | CA466912345 | TNC | c.318-4105A>C c.3215-4105A>C (n.3215-4105A>C) c.4000A>C (p.Arg1334=) c.2032A>C (p.Arg678=) c.688A>C (p.Arg230=) c.4047A>C c.5089A>C (p.Arg1697=) c.4543A>C (p.Arg1515=) c.4307-4105A>C (n.4307-4105A>C) n.253-4105A>C n.40-4105A>C c.776A>C c.4816A>C (p.Arg1606=) c.4034-4105A>C (n.4034-4105A>C) c.3451A>C (p.Arg1151=) c.5365A>C (p.Arg1789=) c.3488-4105A>C (n.3488-4105A>C) c.5092A>C (p.Arg1698=) c.4546A>C (p.Arg1516=) c.4580-4105A>C (n.4580-4105A>C) c.4273A>C (p.Arg1425=) c.3761-4105A>C (n.3761-4105A>C) c.3724A>C (p.Arg1242=) c.5638A>C (p.Arg1880=) c.5362A>C (p.Arg1788=) | |
9 | g.115046446T= | CA1874118872 | TNC | c.318-4105A= c.3215-4105A= (n.3215-4105A=) c.4000A= (p.Arg1334=) c.2032A= (p.Arg678=) c.688A= (p.Arg230=) c.4047A= c.5089A= (p.Arg1697=) c.4543A= (p.Arg1515=) c.4307-4105A= (n.4307-4105A=) n.253-4105A= n.40-4105A= c.776A= c.4816A= (p.Arg1606=) c.4034-4105A= (n.4034-4105A=) c.3451A= (p.Arg1151=) c.5365A= (p.Arg1789=) c.3488-4105A= (n.3488-4105A=) c.5092A= (p.Arg1698=) c.4546A= (p.Arg1516=) c.4580-4105A= (n.4580-4105A=) c.4273A= (p.Arg1425=) c.3761-4105A= (n.3761-4105A=) c.3724A= (p.Arg1242=) c.5638A= (p.Arg1880=) c.5362A= (p.Arg1788=) | |
9 | g.115046447T>A | CA466912347 | TNC | c.318-4106A>T c.3215-4106A>T (n.3215-4106A>T) c.3999A>T (p.Gly1333=) c.2031A>T (p.Gly677=) c.687A>T (p.Gly229=) c.4046A>T c.5088A>T (p.Gly1696=) c.4542A>T (p.Gly1514=) c.4307-4106A>T (n.4307-4106A>T) n.253-4106A>T n.40-4106A>T c.775A>T c.4815A>T (p.Gly1605=) c.4034-4106A>T (n.4034-4106A>T) c.3450A>T (p.Gly1150=) c.5364A>T (p.Gly1788=) c.3488-4106A>T (n.3488-4106A>T) c.5091A>T (p.Gly1697=) c.4545A>T (p.Gly1515=) c.4580-4106A>T (n.4580-4106A>T) c.4272A>T (p.Gly1424=) c.3761-4106A>T (n.3761-4106A>T) c.3723A>T (p.Gly1241=) c.5637A>T (p.Gly1879=) c.5361A>T (p.Gly1787=) | |
9 | g.115046447T>C | CA466912348 | TNC | c.318-4106A>G c.3215-4106A>G (n.3215-4106A>G) c.3999A>G (p.Gly1333=) c.2031A>G (p.Gly677=) c.687A>G (p.Gly229=) c.4046A>G c.5088A>G (p.Gly1696=) c.4542A>G (p.Gly1514=) c.4307-4106A>G (n.4307-4106A>G) n.253-4106A>G n.40-4106A>G c.775A>G c.4815A>G (p.Gly1605=) c.4034-4106A>G (n.4034-4106A>G) c.3450A>G (p.Gly1150=) c.5364A>G (p.Gly1788=) c.3488-4106A>G (n.3488-4106A>G) c.5091A>G (p.Gly1697=) c.4545A>G (p.Gly1515=) c.4580-4106A>G (n.4580-4106A>G) c.4272A>G (p.Gly1424=) c.3761-4106A>G (n.3761-4106A>G) c.3723A>G (p.Gly1241=) c.5637A>G (p.Gly1879=) c.5361A>G (p.Gly1787=) | |
9 | g.115046447T>G | CA466912349 | TNC | c.318-4106A>C c.3215-4106A>C (n.3215-4106A>C) c.3999A>C (p.Gly1333=) c.2031A>C (p.Gly677=) c.687A>C (p.Gly229=) c.4046A>C c.5088A>C (p.Gly1696=) c.4542A>C (p.Gly1514=) c.4307-4106A>C (n.4307-4106A>C) n.253-4106A>C n.40-4106A>C c.775A>C c.4815A>C (p.Gly1605=) c.4034-4106A>C (n.4034-4106A>C) c.3450A>C (p.Gly1150=) c.5364A>C (p.Gly1788=) c.3488-4106A>C (n.3488-4106A>C) c.5091A>C (p.Gly1697=) c.4545A>C (p.Gly1515=) c.4580-4106A>C (n.4580-4106A>C) c.4272A>C (p.Gly1424=) c.3761-4106A>C (n.3761-4106A>C) c.3723A>C (p.Gly1241=) c.5637A>C (p.Gly1879=) c.5361A>C (p.Gly1787=) | |
9 | g.115046448C>A | CA374630623 | TNC | c.318-4107G>T c.3215-4107G>T (n.3215-4107G>T) c.3998G>T (p.Gly1333Val) c.2030G>T (p.Gly677Val) c.686G>T (p.Gly229Val) c.4045G>T c.5087G>T (p.Gly1696Val) c.4541G>T (p.Gly1514Val) c.4307-4107G>T (n.4307-4107G>T) n.253-4107G>T n.40-4107G>T c.774G>T c.4814G>T (p.Gly1605Val) c.4034-4107G>T (n.4034-4107G>T) c.3449G>T (p.Gly1150Val) c.5363G>T (p.Gly1788Val) c.3488-4107G>T (n.3488-4107G>T) c.5090G>T (p.Gly1697Val) c.4544G>T (p.Gly1515Val) c.4580-4107G>T (n.4580-4107G>T) c.4271G>T (p.Gly1424Val) c.3761-4107G>T (n.3761-4107G>T) c.3722G>T (p.Gly1241Val) c.5636G>T (p.Gly1879Val) c.5360G>T (p.Gly1787Val) | |
9 | g.115046448C>G | CA374630621 | TNC | c.318-4107G>C c.3215-4107G>C (n.3215-4107G>C) c.3998G>C (p.Gly1333Ala) c.2030G>C (p.Gly677Ala) c.686G>C (p.Gly229Ala) c.4045G>C c.5087G>C (p.Gly1696Ala) c.4541G>C (p.Gly1514Ala) c.4307-4107G>C (n.4307-4107G>C) n.253-4107G>C n.40-4107G>C c.774G>C c.4814G>C (p.Gly1605Ala) c.4034-4107G>C (n.4034-4107G>C) c.3449G>C (p.Gly1150Ala) c.5363G>C (p.Gly1788Ala) c.3488-4107G>C (n.3488-4107G>C) c.5090G>C (p.Gly1697Ala) c.4544G>C (p.Gly1515Ala) c.4580-4107G>C (n.4580-4107G>C) c.4271G>C (p.Gly1424Ala) c.3761-4107G>C (n.3761-4107G>C) c.3722G>C (p.Gly1241Ala) c.5636G>C (p.Gly1879Ala) c.5360G>C (p.Gly1787Ala) | |
9 | g.115046448C>T | CA374630620 | TNC | c.318-4107G>A c.3215-4107G>A (n.3215-4107G>A) c.3998G>A (p.Gly1333Glu) c.2030G>A (p.Gly677Glu) c.686G>A (p.Gly229Glu) c.4045G>A c.5087G>A (p.Gly1696Glu) c.4541G>A (p.Gly1514Glu) c.4307-4107G>A (n.4307-4107G>A) n.253-4107G>A n.40-4107G>A c.774G>A c.4814G>A (p.Gly1605Glu) c.4034-4107G>A (n.4034-4107G>A) c.3449G>A (p.Gly1150Glu) c.5363G>A (p.Gly1788Glu) c.3488-4107G>A (n.3488-4107G>A) c.5090G>A (p.Gly1697Glu) c.4544G>A (p.Gly1515Glu) c.4580-4107G>A (n.4580-4107G>A) c.4271G>A (p.Gly1424Glu) c.3761-4107G>A (n.3761-4107G>A) c.3722G>A (p.Gly1241Glu) c.5636G>A (p.Gly1879Glu) c.5360G>A (p.Gly1787Glu) | gnomAD v4 COSMIC |
9 | g.115046449C>A | CA374630628 | TNC | c.318-4108G>T c.3215-4108G>T (n.3215-4108G>T) c.3997G>T (p.Gly1333Ter) c.2029G>T (p.Gly677Ter) c.685G>T (p.Gly229Ter) c.4044G>T c.5086G>T (p.Gly1696Ter) c.4540G>T (p.Gly1514Ter) c.4307-4108G>T (n.4307-4108G>T) n.253-4108G>T n.40-4108G>T c.773G>T c.4813G>T (p.Gly1605Ter) c.4034-4108G>T (n.4034-4108G>T) c.3448G>T (p.Gly1150Ter) c.5362G>T (p.Gly1788Ter) c.3488-4108G>T (n.3488-4108G>T) c.5089G>T (p.Gly1697Ter) c.4543G>T (p.Gly1515Ter) c.4580-4108G>T (n.4580-4108G>T) c.4270G>T (p.Gly1424Ter) c.3761-4108G>T (n.3761-4108G>T) c.3721G>T (p.Gly1241Ter) c.5635G>T (p.Gly1879Ter) c.5359G>T (p.Gly1787Ter) | |
9 | g.115046449C= | CA1874118873 | TNC | c.318-4108G= c.3215-4108G= (n.3215-4108G=) c.3997G= (p.Gly1333=) c.2029G= (p.Gly677=) c.685G= (p.Gly229=) c.4044G= c.5086G= (p.Gly1696=) c.4540G= (p.Gly1514=) c.4307-4108G= (n.4307-4108G=) n.253-4108G= n.40-4108G= c.773G= c.4813G= (p.Gly1605=) c.4034-4108G= (n.4034-4108G=) c.3448G= (p.Gly1150=) c.5362G= (p.Gly1788=) c.3488-4108G= (n.3488-4108G=) c.5089G= (p.Gly1697=) c.4543G= (p.Gly1515=) c.4580-4108G= (n.4580-4108G=) c.4270G= (p.Gly1424=) c.3761-4108G= (n.3761-4108G=) c.3721G= (p.Gly1241=) c.5635G= (p.Gly1879=) c.5359G= (p.Gly1787=) | |
9 | g.115046449C>G | CA374630625 | TNC | c.318-4108G>C c.3215-4108G>C (n.3215-4108G>C) c.3997G>C (p.Gly1333Arg) c.2029G>C (p.Gly677Arg) c.685G>C (p.Gly229Arg) c.4044G>C c.5086G>C (p.Gly1696Arg) c.4540G>C (p.Gly1514Arg) c.4307-4108G>C (n.4307-4108G>C) n.253-4108G>C n.40-4108G>C c.773G>C c.4813G>C (p.Gly1605Arg) c.4034-4108G>C (n.4034-4108G>C) c.3448G>C (p.Gly1150Arg) c.5362G>C (p.Gly1788Arg) c.3488-4108G>C (n.3488-4108G>C) c.5089G>C (p.Gly1697Arg) c.4543G>C (p.Gly1515Arg) c.4580-4108G>C (n.4580-4108G>C) c.4270G>C (p.Gly1424Arg) c.3761-4108G>C (n.3761-4108G>C) c.3721G>C (p.Gly1241Arg) c.5635G>C (p.Gly1879Arg) c.5359G>C (p.Gly1787Arg) | |
9 | g.115046449C>T | CA5207760 | TNC | c.318-4108G>A c.3215-4108G>A (n.3215-4108G>A) c.3997G>A (p.Gly1333Arg) c.2029G>A (p.Gly677Arg) c.685G>A (p.Gly229Arg) c.4044G>A c.5086G>A (p.Gly1696Arg) c.4540G>A (p.Gly1514Arg) c.4307-4108G>A (n.4307-4108G>A) n.253-4108G>A n.40-4108G>A c.773G>A c.4813G>A (p.Gly1605Arg) c.4034-4108G>A (n.4034-4108G>A) c.3448G>A (p.Gly1150Arg) c.5362G>A (p.Gly1788Arg) c.3488-4108G>A (n.3488-4108G>A) c.5089G>A (p.Gly1697Arg) c.4543G>A (p.Gly1515Arg) c.4580-4108G>A (n.4580-4108G>A) c.4270G>A (p.Gly1424Arg) c.3761-4108G>A (n.3761-4108G>A) c.3721G>A (p.Gly1241Arg) c.5635G>A (p.Gly1879Arg) c.5359G>A (p.Gly1787Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046450T>A | CA374630630 | TNC | c.318-4109A>T c.3215-4109A>T (n.3215-4109A>T) c.3996A>T (p.Lys1332Asn) c.2028A>T (p.Lys676Asn) c.684A>T (p.Lys228Asn) c.4043A>T c.5085A>T (p.Lys1695Asn) c.4539A>T (p.Lys1513Asn) c.4307-4109A>T (n.4307-4109A>T) n.253-4109A>T n.40-4109A>T c.772A>T c.4812A>T (p.Lys1604Asn) c.4034-4109A>T (n.4034-4109A>T) c.3447A>T (p.Lys1149Asn) c.5361A>T (p.Lys1787Asn) c.3488-4109A>T (n.3488-4109A>T) c.5088A>T (p.Lys1696Asn) c.4542A>T (p.Lys1514Asn) c.4580-4109A>T (n.4580-4109A>T) c.4269A>T (p.Lys1423Asn) c.3761-4109A>T (n.3761-4109A>T) c.3720A>T (p.Lys1240Asn) c.5634A>T (p.Lys1878Asn) c.5358A>T (p.Lys1786Asn) | |
9 | g.115046450T>C | CA466912351 | TNC | c.318-4109A>G c.3215-4109A>G (n.3215-4109A>G) c.3996A>G (p.Lys1332=) c.2028A>G (p.Lys676=) c.684A>G (p.Lys228=) c.4043A>G c.5085A>G (p.Lys1695=) c.4539A>G (p.Lys1513=) c.4307-4109A>G (n.4307-4109A>G) n.253-4109A>G n.40-4109A>G c.772A>G c.4812A>G (p.Lys1604=) c.4034-4109A>G (n.4034-4109A>G) c.3447A>G (p.Lys1149=) c.5361A>G (p.Lys1787=) c.3488-4109A>G (n.3488-4109A>G) c.5088A>G (p.Lys1696=) c.4542A>G (p.Lys1514=) c.4580-4109A>G (n.4580-4109A>G) c.4269A>G (p.Lys1423=) c.3761-4109A>G (n.3761-4109A>G) c.3720A>G (p.Lys1240=) c.5634A>G (p.Lys1878=) c.5358A>G (p.Lys1786=) | |
9 | g.115046450T>G | CA374630632 | TNC | c.318-4109A>C c.3215-4109A>C (n.3215-4109A>C) c.3996A>C (p.Lys1332Asn) c.2028A>C (p.Lys676Asn) c.684A>C (p.Lys228Asn) c.4043A>C c.5085A>C (p.Lys1695Asn) c.4539A>C (p.Lys1513Asn) c.4307-4109A>C (n.4307-4109A>C) n.253-4109A>C n.40-4109A>C c.772A>C c.4812A>C (p.Lys1604Asn) c.4034-4109A>C (n.4034-4109A>C) c.3447A>C (p.Lys1149Asn) c.5361A>C (p.Lys1787Asn) c.3488-4109A>C (n.3488-4109A>C) c.5088A>C (p.Lys1696Asn) c.4542A>C (p.Lys1514Asn) c.4580-4109A>C (n.4580-4109A>C) c.4269A>C (p.Lys1423Asn) c.3761-4109A>C (n.3761-4109A>C) c.3720A>C (p.Lys1240Asn) c.5634A>C (p.Lys1878Asn) c.5358A>C (p.Lys1786Asn) | |
9 | g.115046451T>A | CA374630634 | TNC | c.318-4110A>T c.3215-4110A>T (n.3215-4110A>T) c.3995A>T (p.Lys1332Ile) c.2027A>T (p.Lys676Ile) c.683A>T (p.Lys228Ile) c.4042A>T c.5084A>T (p.Lys1695Ile) c.4538A>T (p.Lys1513Ile) c.4307-4110A>T (n.4307-4110A>T) n.253-4110A>T n.40-4110A>T c.771A>T c.4811A>T (p.Lys1604Ile) c.4034-4110A>T (n.4034-4110A>T) c.3446A>T (p.Lys1149Ile) c.5360A>T (p.Lys1787Ile) c.3488-4110A>T (n.3488-4110A>T) c.5087A>T (p.Lys1696Ile) c.4541A>T (p.Lys1514Ile) c.4580-4110A>T (n.4580-4110A>T) c.4268A>T (p.Lys1423Ile) c.3761-4110A>T (n.3761-4110A>T) c.3719A>T (p.Lys1240Ile) c.5633A>T (p.Lys1878Ile) c.5357A>T (p.Lys1786Ile) | |
9 | g.115046451T>C | CA374630636 | TNC | c.318-4110A>G c.3215-4110A>G (n.3215-4110A>G) c.3995A>G (p.Lys1332Arg) c.2027A>G (p.Lys676Arg) c.683A>G (p.Lys228Arg) c.4042A>G c.5084A>G (p.Lys1695Arg) c.4538A>G (p.Lys1513Arg) c.4307-4110A>G (n.4307-4110A>G) n.253-4110A>G n.40-4110A>G c.771A>G c.4811A>G (p.Lys1604Arg) c.4034-4110A>G (n.4034-4110A>G) c.3446A>G (p.Lys1149Arg) c.5360A>G (p.Lys1787Arg) c.3488-4110A>G (n.3488-4110A>G) c.5087A>G (p.Lys1696Arg) c.4541A>G (p.Lys1514Arg) c.4580-4110A>G (n.4580-4110A>G) c.4268A>G (p.Lys1423Arg) c.3761-4110A>G (n.3761-4110A>G) c.3719A>G (p.Lys1240Arg) c.5633A>G (p.Lys1878Arg) c.5357A>G (p.Lys1786Arg) | |
9 | g.115046451T>G | CA374630638 | TNC | c.318-4110A>C c.3215-4110A>C (n.3215-4110A>C) c.3995A>C (p.Lys1332Thr) c.2027A>C (p.Lys676Thr) c.683A>C (p.Lys228Thr) c.4042A>C c.5084A>C (p.Lys1695Thr) c.4538A>C (p.Lys1513Thr) c.4307-4110A>C (n.4307-4110A>C) n.253-4110A>C n.40-4110A>C c.771A>C c.4811A>C (p.Lys1604Thr) c.4034-4110A>C (n.4034-4110A>C) c.3446A>C (p.Lys1149Thr) c.5360A>C (p.Lys1787Thr) c.3488-4110A>C (n.3488-4110A>C) c.5087A>C (p.Lys1696Thr) c.4541A>C (p.Lys1514Thr) c.4580-4110A>C (n.4580-4110A>C) c.4268A>C (p.Lys1423Thr) c.3761-4110A>C (n.3761-4110A>C) c.3719A>C (p.Lys1240Thr) c.5633A>C (p.Lys1878Thr) c.5357A>C (p.Lys1786Thr) | |
9 | g.115046452T>A | CA374630640 | TNC | c.318-4111A>T c.3215-4111A>T (n.3215-4111A>T) c.3994A>T (p.Lys1332Ter) c.2026A>T (p.Lys676Ter) c.682A>T (p.Lys228Ter) c.4041A>T c.5083A>T (p.Lys1695Ter) c.4537A>T (p.Lys1513Ter) c.4307-4111A>T (n.4307-4111A>T) n.253-4111A>T n.40-4111A>T c.770A>T c.4810A>T (p.Lys1604Ter) c.4034-4111A>T (n.4034-4111A>T) c.3445A>T (p.Lys1149Ter) c.5359A>T (p.Lys1787Ter) c.3488-4111A>T (n.3488-4111A>T) c.5086A>T (p.Lys1696Ter) c.4540A>T (p.Lys1514Ter) c.4580-4111A>T (n.4580-4111A>T) c.4267A>T (p.Lys1423Ter) c.3761-4111A>T (n.3761-4111A>T) c.3718A>T (p.Lys1240Ter) c.5632A>T (p.Lys1878Ter) c.5356A>T (p.Lys1786Ter) | |
9 | g.115046452T>C | CA374630642 | TNC | c.318-4111A>G c.3215-4111A>G (n.3215-4111A>G) c.3994A>G (p.Lys1332Glu) c.2026A>G (p.Lys676Glu) c.682A>G (p.Lys228Glu) c.4041A>G c.5083A>G (p.Lys1695Glu) c.4537A>G (p.Lys1513Glu) c.4307-4111A>G (n.4307-4111A>G) n.253-4111A>G n.40-4111A>G c.770A>G c.4810A>G (p.Lys1604Glu) c.4034-4111A>G (n.4034-4111A>G) c.3445A>G (p.Lys1149Glu) c.5359A>G (p.Lys1787Glu) c.3488-4111A>G (n.3488-4111A>G) c.5086A>G (p.Lys1696Glu) c.4540A>G (p.Lys1514Glu) c.4580-4111A>G (n.4580-4111A>G) c.4267A>G (p.Lys1423Glu) c.3761-4111A>G (n.3761-4111A>G) c.3718A>G (p.Lys1240Glu) c.5632A>G (p.Lys1878Glu) c.5356A>G (p.Lys1786Glu) | |
9 | g.115046452T>G | CA374630644 | TNC | c.318-4111A>C c.3215-4111A>C (n.3215-4111A>C) c.3994A>C (p.Lys1332Gln) c.2026A>C (p.Lys676Gln) c.682A>C (p.Lys228Gln) c.4041A>C c.5083A>C (p.Lys1695Gln) c.4537A>C (p.Lys1513Gln) c.4307-4111A>C (n.4307-4111A>C) n.253-4111A>C n.40-4111A>C c.770A>C c.4810A>C (p.Lys1604Gln) c.4034-4111A>C (n.4034-4111A>C) c.3445A>C (p.Lys1149Gln) c.5359A>C (p.Lys1787Gln) c.3488-4111A>C (n.3488-4111A>C) c.5086A>C (p.Lys1696Gln) c.4540A>C (p.Lys1514Gln) c.4580-4111A>C (n.4580-4111A>C) c.4267A>C (p.Lys1423Gln) c.3761-4111A>C (n.3761-4111A>C) c.3718A>C (p.Lys1240Gln) c.5632A>C (p.Lys1878Gln) c.5356A>C (p.Lys1786Gln) | |
9 | g.115046453G>A | CA466912352 | TNC | c.318-4112C>T c.3215-4112C>T (n.3215-4112C>T) c.3993C>T (p.Ser1331=) c.2025C>T (p.Ser675=) c.681C>T (p.Ser227=) c.4040C>T c.5082C>T (p.Ser1694=) c.4536C>T (p.Ser1512=) c.4307-4112C>T (n.4307-4112C>T) n.253-4112C>T n.40-4112C>T c.769C>T c.4809C>T (p.Ser1603=) c.4034-4112C>T (n.4034-4112C>T) c.3444C>T (p.Ser1148=) c.5358C>T (p.Ser1786=) c.3488-4112C>T (n.3488-4112C>T) c.5085C>T (p.Ser1695=) c.4539C>T (p.Ser1513=) c.4580-4112C>T (n.4580-4112C>T) c.4266C>T (p.Ser1422=) c.3761-4112C>T (n.3761-4112C>T) c.3717C>T (p.Ser1239=) c.5631C>T (p.Ser1877=) c.5355C>T (p.Ser1785=) | |
9 | g.115046453G>C | CA5207761 | TNC | c.318-4112C>G c.3215-4112C>G (n.3215-4112C>G) c.3993C>G (p.Ser1331Arg) c.2025C>G (p.Ser675Arg) c.681C>G (p.Ser227Arg) c.4040C>G c.5082C>G (p.Ser1694Arg) c.4536C>G (p.Ser1512Arg) c.4307-4112C>G (n.4307-4112C>G) n.253-4112C>G n.40-4112C>G c.769C>G c.4809C>G (p.Ser1603Arg) c.4034-4112C>G (n.4034-4112C>G) c.3444C>G (p.Ser1148Arg) c.5358C>G (p.Ser1786Arg) c.3488-4112C>G (n.3488-4112C>G) c.5085C>G (p.Ser1695Arg) c.4539C>G (p.Ser1513Arg) c.4580-4112C>G (n.4580-4112C>G) c.4266C>G (p.Ser1422Arg) c.3761-4112C>G (n.3761-4112C>G) c.3717C>G (p.Ser1239Arg) c.5631C>G (p.Ser1877Arg) c.5355C>G (p.Ser1785Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046453G= | CA1874118874 | TNC | c.318-4112C= c.3215-4112C= (n.3215-4112C=) c.3993C= (p.Ser1331=) c.2025C= (p.Ser675=) c.681C= (p.Ser227=) c.4040C= c.5082C= (p.Ser1694=) c.4536C= (p.Ser1512=) c.4307-4112C= (n.4307-4112C=) n.253-4112C= n.40-4112C= c.769C= c.4809C= (p.Ser1603=) c.4034-4112C= (n.4034-4112C=) c.3444C= (p.Ser1148=) c.5358C= (p.Ser1786=) c.3488-4112C= (n.3488-4112C=) c.5085C= (p.Ser1695=) c.4539C= (p.Ser1513=) c.4580-4112C= (n.4580-4112C=) c.4266C= (p.Ser1422=) c.3761-4112C= (n.3761-4112C=) c.3717C= (p.Ser1239=) c.5631C= (p.Ser1877=) c.5355C= (p.Ser1785=) | |
9 | g.115046453G>T | CA374630646 | TNC | c.318-4112C>A c.3215-4112C>A (n.3215-4112C>A) c.3993C>A (p.Ser1331Arg) c.2025C>A (p.Ser675Arg) c.681C>A (p.Ser227Arg) c.4040C>A c.5082C>A (p.Ser1694Arg) c.4536C>A (p.Ser1512Arg) c.4307-4112C>A (n.4307-4112C>A) n.253-4112C>A n.40-4112C>A c.769C>A c.4809C>A (p.Ser1603Arg) c.4034-4112C>A (n.4034-4112C>A) c.3444C>A (p.Ser1148Arg) c.5358C>A (p.Ser1786Arg) c.3488-4112C>A (n.3488-4112C>A) c.5085C>A (p.Ser1695Arg) c.4539C>A (p.Ser1513Arg) c.4580-4112C>A (n.4580-4112C>A) c.4266C>A (p.Ser1422Arg) c.3761-4112C>A (n.3761-4112C>A) c.3717C>A (p.Ser1239Arg) c.5631C>A (p.Ser1877Arg) c.5355C>A (p.Ser1785Arg) | |
9 | g.115046454C>A | CA374630650 | TNC | c.318-4113G>T c.3215-4113G>T (n.3215-4113G>T) c.3992G>T (p.Ser1331Ile) c.2024G>T (p.Ser675Ile) c.680G>T (p.Ser227Ile) c.4039G>T c.5081G>T (p.Ser1694Ile) c.4535G>T (p.Ser1512Ile) c.4307-4113G>T (n.4307-4113G>T) n.253-4113G>T n.40-4113G>T c.768G>T c.4808G>T (p.Ser1603Ile) c.4034-4113G>T (n.4034-4113G>T) c.3443G>T (p.Ser1148Ile) c.5357G>T (p.Ser1786Ile) c.3488-4113G>T (n.3488-4113G>T) c.5084G>T (p.Ser1695Ile) c.4538G>T (p.Ser1513Ile) c.4580-4113G>T (n.4580-4113G>T) c.4265G>T (p.Ser1422Ile) c.3761-4113G>T (n.3761-4113G>T) c.3716G>T (p.Ser1239Ile) c.5630G>T (p.Ser1877Ile) c.5354G>T (p.Ser1785Ile) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046454C= | CA1874118875 | TNC | c.318-4113G= c.3215-4113G= (n.3215-4113G=) c.3992G= (p.Ser1331=) c.2024G= (p.Ser675=) c.680G= (p.Ser227=) c.4039G= c.5081G= (p.Ser1694=) c.4535G= (p.Ser1512=) c.4307-4113G= (n.4307-4113G=) n.253-4113G= n.40-4113G= c.768G= c.4808G= (p.Ser1603=) c.4034-4113G= (n.4034-4113G=) c.3443G= (p.Ser1148=) c.5357G= (p.Ser1786=) c.3488-4113G= (n.3488-4113G=) c.5084G= (p.Ser1695=) c.4538G= (p.Ser1513=) c.4580-4113G= (n.4580-4113G=) c.4265G= (p.Ser1422=) c.3761-4113G= (n.3761-4113G=) c.3716G= (p.Ser1239=) c.5630G= (p.Ser1877=) c.5354G= (p.Ser1785=) | |
9 | g.115046454C>G | CA374630648 | TNC | c.318-4113G>C c.3215-4113G>C (n.3215-4113G>C) c.3992G>C (p.Ser1331Thr) c.2024G>C (p.Ser675Thr) c.680G>C (p.Ser227Thr) c.4039G>C c.5081G>C (p.Ser1694Thr) c.4535G>C (p.Ser1512Thr) c.4307-4113G>C (n.4307-4113G>C) n.253-4113G>C n.40-4113G>C c.768G>C c.4808G>C (p.Ser1603Thr) c.4034-4113G>C (n.4034-4113G>C) c.3443G>C (p.Ser1148Thr) c.5357G>C (p.Ser1786Thr) c.3488-4113G>C (n.3488-4113G>C) c.5084G>C (p.Ser1695Thr) c.4538G>C (p.Ser1513Thr) c.4580-4113G>C (n.4580-4113G>C) c.4265G>C (p.Ser1422Thr) c.3761-4113G>C (n.3761-4113G>C) c.3716G>C (p.Ser1239Thr) c.5630G>C (p.Ser1877Thr) c.5354G>C (p.Ser1785Thr) | |
9 | g.115046454C>T | CA5207762 | TNC | c.318-4113G>A c.3215-4113G>A (n.3215-4113G>A) c.3992G>A (p.Ser1331Asn) c.2024G>A (p.Ser675Asn) c.680G>A (p.Ser227Asn) c.4039G>A c.5081G>A (p.Ser1694Asn) c.4535G>A (p.Ser1512Asn) c.4307-4113G>A (n.4307-4113G>A) n.253-4113G>A n.40-4113G>A c.768G>A c.4808G>A (p.Ser1603Asn) c.4034-4113G>A (n.4034-4113G>A) c.3443G>A (p.Ser1148Asn) c.5357G>A (p.Ser1786Asn) c.3488-4113G>A (n.3488-4113G>A) c.5084G>A (p.Ser1695Asn) c.4538G>A (p.Ser1513Asn) c.4580-4113G>A (n.4580-4113G>A) c.4265G>A (p.Ser1422Asn) c.3761-4113G>A (n.3761-4113G>A) c.3716G>A (p.Ser1239Asn) c.5630G>A (p.Ser1877Asn) c.5354G>A (p.Ser1785Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046455T>A | CA374630652 | TNC | c.318-4114A>T c.3215-4114A>T (n.3215-4114A>T) c.3991A>T (p.Ser1331Cys) c.2023A>T (p.Ser675Cys) c.679A>T (p.Ser227Cys) c.4038A>T c.5080A>T (p.Ser1694Cys) c.4534A>T (p.Ser1512Cys) c.4307-4114A>T (n.4307-4114A>T) n.253-4114A>T n.40-4114A>T c.767A>T c.4807A>T (p.Ser1603Cys) c.4034-4114A>T (n.4034-4114A>T) c.3442A>T (p.Ser1148Cys) c.5356A>T (p.Ser1786Cys) c.3488-4114A>T (n.3488-4114A>T) c.5083A>T (p.Ser1695Cys) c.4537A>T (p.Ser1513Cys) c.4580-4114A>T (n.4580-4114A>T) c.4264A>T (p.Ser1422Cys) c.3761-4114A>T (n.3761-4114A>T) c.3715A>T (p.Ser1239Cys) c.5629A>T (p.Ser1877Cys) c.5353A>T (p.Ser1785Cys) | |
9 | g.115046455T>C | CA374630654 | TNC | c.318-4114A>G c.3215-4114A>G (n.3215-4114A>G) c.3991A>G (p.Ser1331Gly) c.2023A>G (p.Ser675Gly) c.679A>G (p.Ser227Gly) c.4038A>G c.5080A>G (p.Ser1694Gly) c.4534A>G (p.Ser1512Gly) c.4307-4114A>G (n.4307-4114A>G) n.253-4114A>G n.40-4114A>G c.767A>G c.4807A>G (p.Ser1603Gly) c.4034-4114A>G (n.4034-4114A>G) c.3442A>G (p.Ser1148Gly) c.5356A>G (p.Ser1786Gly) c.3488-4114A>G (n.3488-4114A>G) c.5083A>G (p.Ser1695Gly) c.4537A>G (p.Ser1513Gly) c.4580-4114A>G (n.4580-4114A>G) c.4264A>G (p.Ser1422Gly) c.3761-4114A>G (n.3761-4114A>G) c.3715A>G (p.Ser1239Gly) c.5629A>G (p.Ser1877Gly) c.5353A>G (p.Ser1785Gly) | |
9 | g.115046455T>G | CA374630656 | TNC | c.318-4114A>C c.3215-4114A>C (n.3215-4114A>C) c.3991A>C (p.Ser1331Arg) c.2023A>C (p.Ser675Arg) c.679A>C (p.Ser227Arg) c.4038A>C c.5080A>C (p.Ser1694Arg) c.4534A>C (p.Ser1512Arg) c.4307-4114A>C (n.4307-4114A>C) n.253-4114A>C n.40-4114A>C c.767A>C c.4807A>C (p.Ser1603Arg) c.4034-4114A>C (n.4034-4114A>C) c.3442A>C (p.Ser1148Arg) c.5356A>C (p.Ser1786Arg) c.3488-4114A>C (n.3488-4114A>C) c.5083A>C (p.Ser1695Arg) c.4537A>C (p.Ser1513Arg) c.4580-4114A>C (n.4580-4114A>C) c.4264A>C (p.Ser1422Arg) c.3761-4114A>C (n.3761-4114A>C) c.3715A>C (p.Ser1239Arg) c.5629A>C (p.Ser1877Arg) c.5353A>C (p.Ser1785Arg) | |
9 | g.115046456T>A | CA466912355 | TNC | c.318-4115A>T c.3215-4115A>T (n.3215-4115A>T) c.3990A>T (p.Ile1330=) c.2022A>T (p.Ile674=) c.678A>T (p.Ile226=) c.4037A>T c.5079A>T (p.Ile1693=) c.4533A>T (p.Ile1511=) c.4307-4115A>T (n.4307-4115A>T) n.253-4115A>T n.40-4115A>T c.766A>T c.4806A>T (p.Ile1602=) c.4034-4115A>T (n.4034-4115A>T) c.3441A>T (p.Ile1147=) c.5355A>T (p.Ile1785=) c.3488-4115A>T (n.3488-4115A>T) c.5082A>T (p.Ile1694=) c.4536A>T (p.Ile1512=) c.4580-4115A>T (n.4580-4115A>T) c.4263A>T (p.Ile1421=) c.3761-4115A>T (n.3761-4115A>T) c.3714A>T (p.Ile1238=) c.5628A>T (p.Ile1876=) c.5352A>T (p.Ile1784=) | |
9 | g.115046456T>C | CA374630658 | TNC | c.318-4115A>G c.3215-4115A>G (n.3215-4115A>G) c.3990A>G (p.Ile1330Met) c.2022A>G (p.Ile674Met) c.678A>G (p.Ile226Met) c.4037A>G c.5079A>G (p.Ile1693Met) c.4533A>G (p.Ile1511Met) c.4307-4115A>G (n.4307-4115A>G) n.253-4115A>G n.40-4115A>G c.766A>G c.4806A>G (p.Ile1602Met) c.4034-4115A>G (n.4034-4115A>G) c.3441A>G (p.Ile1147Met) c.5355A>G (p.Ile1785Met) c.3488-4115A>G (n.3488-4115A>G) c.5082A>G (p.Ile1694Met) c.4536A>G (p.Ile1512Met) c.4580-4115A>G (n.4580-4115A>G) c.4263A>G (p.Ile1421Met) c.3761-4115A>G (n.3761-4115A>G) c.3714A>G (p.Ile1238Met) c.5628A>G (p.Ile1876Met) c.5352A>G (p.Ile1784Met) | gnomAD v4 |
9 | g.115046456T>G | CA466912354 | TNC | c.318-4115A>C c.3215-4115A>C (n.3215-4115A>C) c.3990A>C (p.Ile1330=) c.2022A>C (p.Ile674=) c.678A>C (p.Ile226=) c.4037A>C c.5079A>C (p.Ile1693=) c.4533A>C (p.Ile1511=) c.4307-4115A>C (n.4307-4115A>C) n.253-4115A>C n.40-4115A>C c.766A>C c.4806A>C (p.Ile1602=) c.4034-4115A>C (n.4034-4115A>C) c.3441A>C (p.Ile1147=) c.5355A>C (p.Ile1785=) c.3488-4115A>C (n.3488-4115A>C) c.5082A>C (p.Ile1694=) c.4536A>C (p.Ile1512=) c.4580-4115A>C (n.4580-4115A>C) c.4263A>C (p.Ile1421=) c.3761-4115A>C (n.3761-4115A>C) c.3714A>C (p.Ile1238=) c.5628A>C (p.Ile1876=) c.5352A>C (p.Ile1784=) | |
9 | g.115046457A>C | CA374630659 | TNC | c.318-4116T>G c.3215-4116T>G (n.3215-4116T>G) c.3989T>G (p.Ile1330Arg) c.2021T>G (p.Ile674Arg) c.677T>G (p.Ile226Arg) c.4036T>G c.5078T>G (p.Ile1693Arg) c.4532T>G (p.Ile1511Arg) c.4307-4116T>G (n.4307-4116T>G) n.253-4116T>G n.40-4116T>G c.765T>G c.4805T>G (p.Ile1602Arg) c.4034-4116T>G (n.4034-4116T>G) c.3440T>G (p.Ile1147Arg) c.5354T>G (p.Ile1785Arg) c.3488-4116T>G (n.3488-4116T>G) c.5081T>G (p.Ile1694Arg) c.4535T>G (p.Ile1512Arg) c.4580-4116T>G (n.4580-4116T>G) c.4262T>G (p.Ile1421Arg) c.3761-4116T>G (n.3761-4116T>G) c.3713T>G (p.Ile1238Arg) c.5627T>G (p.Ile1876Arg) c.5351T>G (p.Ile1784Arg) | |
9 | g.115046457A>G | CA374630661 | TNC | c.318-4116T>C c.3215-4116T>C (n.3215-4116T>C) c.3989T>C (p.Ile1330Thr) c.2021T>C (p.Ile674Thr) c.677T>C (p.Ile226Thr) c.4036T>C c.5078T>C (p.Ile1693Thr) c.4532T>C (p.Ile1511Thr) c.4307-4116T>C (n.4307-4116T>C) n.253-4116T>C n.40-4116T>C c.765T>C c.4805T>C (p.Ile1602Thr) c.4034-4116T>C (n.4034-4116T>C) c.3440T>C (p.Ile1147Thr) c.5354T>C (p.Ile1785Thr) c.3488-4116T>C (n.3488-4116T>C) c.5081T>C (p.Ile1694Thr) c.4535T>C (p.Ile1512Thr) c.4580-4116T>C (n.4580-4116T>C) c.4262T>C (p.Ile1421Thr) c.3761-4116T>C (n.3761-4116T>C) c.3713T>C (p.Ile1238Thr) c.5627T>C (p.Ile1876Thr) c.5351T>C (p.Ile1784Thr) | |
9 | g.115046457A>T | CA374630662 | TNC | c.318-4116T>A c.3215-4116T>A (n.3215-4116T>A) c.3989T>A (p.Ile1330Lys) c.2021T>A (p.Ile674Lys) c.677T>A (p.Ile226Lys) c.4036T>A c.5078T>A (p.Ile1693Lys) c.4532T>A (p.Ile1511Lys) c.4307-4116T>A (n.4307-4116T>A) n.253-4116T>A n.40-4116T>A c.765T>A c.4805T>A (p.Ile1602Lys) c.4034-4116T>A (n.4034-4116T>A) c.3440T>A (p.Ile1147Lys) c.5354T>A (p.Ile1785Lys) c.3488-4116T>A (n.3488-4116T>A) c.5081T>A (p.Ile1694Lys) c.4535T>A (p.Ile1512Lys) c.4580-4116T>A (n.4580-4116T>A) c.4262T>A (p.Ile1421Lys) c.3761-4116T>A (n.3761-4116T>A) c.3713T>A (p.Ile1238Lys) c.5627T>A (p.Ile1876Lys) c.5351T>A (p.Ile1784Lys) | |
9 | g.115046458T>A | CA374630664 | TNC | c.318-4117A>T c.3215-4117A>T (n.3215-4117A>T) c.3988A>T (p.Ile1330Leu) c.2020A>T (p.Ile674Leu) c.676A>T (p.Ile226Leu) c.4035A>T c.5077A>T (p.Ile1693Leu) c.4531A>T (p.Ile1511Leu) c.4307-4117A>T (n.4307-4117A>T) n.253-4117A>T n.40-4117A>T c.764A>T c.4804A>T (p.Ile1602Leu) c.4034-4117A>T (n.4034-4117A>T) c.3439A>T (p.Ile1147Leu) c.5353A>T (p.Ile1785Leu) c.3488-4117A>T (n.3488-4117A>T) c.5080A>T (p.Ile1694Leu) c.4534A>T (p.Ile1512Leu) c.4580-4117A>T (n.4580-4117A>T) c.4261A>T (p.Ile1421Leu) c.3761-4117A>T (n.3761-4117A>T) c.3712A>T (p.Ile1238Leu) c.5626A>T (p.Ile1876Leu) c.5350A>T (p.Ile1784Leu) | |
9 | g.115046458T>C | CA374630666 | TNC | c.318-4117A>G c.3215-4117A>G (n.3215-4117A>G) c.3988A>G (p.Ile1330Val) c.2020A>G (p.Ile674Val) c.676A>G (p.Ile226Val) c.4035A>G c.5077A>G (p.Ile1693Val) c.4531A>G (p.Ile1511Val) c.4307-4117A>G (n.4307-4117A>G) n.253-4117A>G n.40-4117A>G c.764A>G c.4804A>G (p.Ile1602Val) c.4034-4117A>G (n.4034-4117A>G) c.3439A>G (p.Ile1147Val) c.5353A>G (p.Ile1785Val) c.3488-4117A>G (n.3488-4117A>G) c.5080A>G (p.Ile1694Val) c.4534A>G (p.Ile1512Val) c.4580-4117A>G (n.4580-4117A>G) c.4261A>G (p.Ile1421Val) c.3761-4117A>G (n.3761-4117A>G) c.3712A>G (p.Ile1238Val) c.5626A>G (p.Ile1876Val) c.5350A>G (p.Ile1784Val) | gnomAD v4 |
9 | g.115046458T>G | CA374630668 | TNC | c.318-4117A>C c.3215-4117A>C (n.3215-4117A>C) c.3988A>C (p.Ile1330Leu) c.2020A>C (p.Ile674Leu) c.676A>C (p.Ile226Leu) c.4035A>C c.5077A>C (p.Ile1693Leu) c.4531A>C (p.Ile1511Leu) c.4307-4117A>C (n.4307-4117A>C) n.253-4117A>C n.40-4117A>C c.764A>C c.4804A>C (p.Ile1602Leu) c.4034-4117A>C (n.4034-4117A>C) c.3439A>C (p.Ile1147Leu) c.5353A>C (p.Ile1785Leu) c.3488-4117A>C (n.3488-4117A>C) c.5080A>C (p.Ile1694Leu) c.4534A>C (p.Ile1512Leu) c.4580-4117A>C (n.4580-4117A>C) c.4261A>C (p.Ile1421Leu) c.3761-4117A>C (n.3761-4117A>C) c.3712A>C (p.Ile1238Leu) c.5626A>C (p.Ile1876Leu) c.5350A>C (p.Ile1784Leu) | |
9 | g.115046459T>A | CA466912359 | TNC | c.318-4118A>T c.3215-4118A>T (n.3215-4118A>T) c.3987A>T (p.Gly1329=) c.2019A>T (p.Gly673=) c.675A>T (p.Gly225=) c.4034A>T c.5076A>T (p.Gly1692=) c.4530A>T (p.Gly1510=) c.4307-4118A>T (n.4307-4118A>T) n.253-4118A>T n.40-4118A>T c.763A>T c.4803A>T (p.Gly1601=) c.4034-4118A>T (n.4034-4118A>T) c.3438A>T (p.Gly1146=) c.5352A>T (p.Gly1784=) c.3488-4118A>T (n.3488-4118A>T) c.5079A>T (p.Gly1693=) c.4533A>T (p.Gly1511=) c.4580-4118A>T (n.4580-4118A>T) c.4260A>T (p.Gly1420=) c.3761-4118A>T (n.3761-4118A>T) c.3711A>T (p.Gly1237=) c.5625A>T (p.Gly1875=) c.5349A>T (p.Gly1783=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046459T>C | CA466912360 | TNC | c.318-4118A>G c.3215-4118A>G (n.3215-4118A>G) c.3987A>G (p.Gly1329=) c.2019A>G (p.Gly673=) c.675A>G (p.Gly225=) c.4034A>G c.5076A>G (p.Gly1692=) c.4530A>G (p.Gly1510=) c.4307-4118A>G (n.4307-4118A>G) n.253-4118A>G n.40-4118A>G c.763A>G c.4803A>G (p.Gly1601=) c.4034-4118A>G (n.4034-4118A>G) c.3438A>G (p.Gly1146=) c.5352A>G (p.Gly1784=) c.3488-4118A>G (n.3488-4118A>G) c.5079A>G (p.Gly1693=) c.4533A>G (p.Gly1511=) c.4580-4118A>G (n.4580-4118A>G) c.4260A>G (p.Gly1420=) c.3761-4118A>G (n.3761-4118A>G) c.3711A>G (p.Gly1237=) c.5625A>G (p.Gly1875=) c.5349A>G (p.Gly1783=) | gnomAD v4 |
9 | g.115046459T>G | CA466912361 | TNC | c.318-4118A>C c.3215-4118A>C (n.3215-4118A>C) c.3987A>C (p.Gly1329=) c.2019A>C (p.Gly673=) c.675A>C (p.Gly225=) c.4034A>C c.5076A>C (p.Gly1692=) c.4530A>C (p.Gly1510=) c.4307-4118A>C (n.4307-4118A>C) n.253-4118A>C n.40-4118A>C c.763A>C c.4803A>C (p.Gly1601=) c.4034-4118A>C (n.4034-4118A>C) c.3438A>C (p.Gly1146=) c.5352A>C (p.Gly1784=) c.3488-4118A>C (n.3488-4118A>C) c.5079A>C (p.Gly1693=) c.4533A>C (p.Gly1511=) c.4580-4118A>C (n.4580-4118A>C) c.4260A>C (p.Gly1420=) c.3761-4118A>C (n.3761-4118A>C) c.3711A>C (p.Gly1237=) c.5625A>C (p.Gly1875=) c.5349A>C (p.Gly1783=) | |
9 | g.115046459T= | CA1874118876 | TNC | c.318-4118A= c.3215-4118A= (n.3215-4118A=) c.3987A= (p.Gly1329=) c.2019A= (p.Gly673=) c.675A= (p.Gly225=) c.4034A= c.5076A= (p.Gly1692=) c.4530A= (p.Gly1510=) c.4307-4118A= (n.4307-4118A=) n.253-4118A= n.40-4118A= c.763A= c.4803A= (p.Gly1601=) c.4034-4118A= (n.4034-4118A=) c.3438A= (p.Gly1146=) c.5352A= (p.Gly1784=) c.3488-4118A= (n.3488-4118A=) c.5079A= (p.Gly1693=) c.4533A= (p.Gly1511=) c.4580-4118A= (n.4580-4118A=) c.4260A= (p.Gly1420=) c.3761-4118A= (n.3761-4118A=) c.3711A= (p.Gly1237=) c.5625A= (p.Gly1875=) c.5349A= (p.Gly1783=) | |
9 | g.115046460C>A | CA374630670 | TNC | c.318-4119G>T c.3215-4119G>T (n.3215-4119G>T) c.3986G>T (p.Gly1329Val) c.2018G>T (p.Gly673Val) c.674G>T (p.Gly225Val) c.4033G>T c.5075G>T (p.Gly1692Val) c.4529G>T (p.Gly1510Val) c.4307-4119G>T (n.4307-4119G>T) n.253-4119G>T n.40-4119G>T c.762G>T c.4802G>T (p.Gly1601Val) c.4034-4119G>T (n.4034-4119G>T) c.3437G>T (p.Gly1146Val) c.5351G>T (p.Gly1784Val) c.3488-4119G>T (n.3488-4119G>T) c.5078G>T (p.Gly1693Val) c.4532G>T (p.Gly1511Val) c.4580-4119G>T (n.4580-4119G>T) c.4259G>T (p.Gly1420Val) c.3761-4119G>T (n.3761-4119G>T) c.3710G>T (p.Gly1237Val) c.5624G>T (p.Gly1875Val) c.5348G>T (p.Gly1783Val) | |
9 | g.115046460C= | CA1874118877 | TNC | c.318-4119G= c.3215-4119G= (n.3215-4119G=) c.3986G= (p.Gly1329=) c.2018G= (p.Gly673=) c.674G= (p.Gly225=) c.4033G= c.5075G= (p.Gly1692=) c.4529G= (p.Gly1510=) c.4307-4119G= (n.4307-4119G=) n.253-4119G= n.40-4119G= c.762G= c.4802G= (p.Gly1601=) c.4034-4119G= (n.4034-4119G=) c.3437G= (p.Gly1146=) c.5351G= (p.Gly1784=) c.3488-4119G= (n.3488-4119G=) c.5078G= (p.Gly1693=) c.4532G= (p.Gly1511=) c.4580-4119G= (n.4580-4119G=) c.4259G= (p.Gly1420=) c.3761-4119G= (n.3761-4119G=) c.3710G= (p.Gly1237=) c.5624G= (p.Gly1875=) c.5348G= (p.Gly1783=) | |
9 | g.115046460C>G | CA374630672 | TNC | c.318-4119G>C c.3215-4119G>C (n.3215-4119G>C) c.3986G>C (p.Gly1329Ala) c.2018G>C (p.Gly673Ala) c.674G>C (p.Gly225Ala) c.4033G>C c.5075G>C (p.Gly1692Ala) c.4529G>C (p.Gly1510Ala) c.4307-4119G>C (n.4307-4119G>C) n.253-4119G>C n.40-4119G>C c.762G>C c.4802G>C (p.Gly1601Ala) c.4034-4119G>C (n.4034-4119G>C) c.3437G>C (p.Gly1146Ala) c.5351G>C (p.Gly1784Ala) c.3488-4119G>C (n.3488-4119G>C) c.5078G>C (p.Gly1693Ala) c.4532G>C (p.Gly1511Ala) c.4580-4119G>C (n.4580-4119G>C) c.4259G>C (p.Gly1420Ala) c.3761-4119G>C (n.3761-4119G>C) c.3710G>C (p.Gly1237Ala) c.5624G>C (p.Gly1875Ala) c.5348G>C (p.Gly1783Ala) | dbSNP |
9 | g.115046460C>T | CA374630673 | TNC | c.318-4119G>A c.3215-4119G>A (n.3215-4119G>A) c.3986G>A (p.Gly1329Glu) c.2018G>A (p.Gly673Glu) c.674G>A (p.Gly225Glu) c.4033G>A c.5075G>A (p.Gly1692Glu) c.4529G>A (p.Gly1510Glu) c.4307-4119G>A (n.4307-4119G>A) n.253-4119G>A n.40-4119G>A c.762G>A c.4802G>A (p.Gly1601Glu) c.4034-4119G>A (n.4034-4119G>A) c.3437G>A (p.Gly1146Glu) c.5351G>A (p.Gly1784Glu) c.3488-4119G>A (n.3488-4119G>A) c.5078G>A (p.Gly1693Glu) c.4532G>A (p.Gly1511Glu) c.4580-4119G>A (n.4580-4119G>A) c.4259G>A (p.Gly1420Glu) c.3761-4119G>A (n.3761-4119G>A) c.3710G>A (p.Gly1237Glu) c.5624G>A (p.Gly1875Glu) c.5348G>A (p.Gly1783Glu) | |
9 | g.115046461C>A | CA374630678 | TNC | c.318-4120G>T c.3215-4120G>T (n.3215-4120G>T) c.3985G>T (p.Gly1329Ter) c.2017G>T (p.Gly673Ter) c.673G>T (p.Gly225Ter) c.4032G>T c.5074G>T (p.Gly1692Ter) c.4528G>T (p.Gly1510Ter) c.4307-4120G>T (n.4307-4120G>T) n.253-4120G>T n.40-4120G>T c.761G>T c.4801G>T (p.Gly1601Ter) c.4034-4120G>T (n.4034-4120G>T) c.3436G>T (p.Gly1146Ter) c.5350G>T (p.Gly1784Ter) c.3488-4120G>T (n.3488-4120G>T) c.5077G>T (p.Gly1693Ter) c.4531G>T (p.Gly1511Ter) c.4580-4120G>T (n.4580-4120G>T) c.4258G>T (p.Gly1420Ter) c.3761-4120G>T (n.3761-4120G>T) c.3709G>T (p.Gly1237Ter) c.5623G>T (p.Gly1875Ter) c.5347G>T (p.Gly1783Ter) | COSMIC |
9 | g.115046461C>G | CA374630680 | TNC | c.318-4120G>C c.3215-4120G>C (n.3215-4120G>C) c.3985G>C (p.Gly1329Arg) c.2017G>C (p.Gly673Arg) c.673G>C (p.Gly225Arg) c.4032G>C c.5074G>C (p.Gly1692Arg) c.4528G>C (p.Gly1510Arg) c.4307-4120G>C (n.4307-4120G>C) n.253-4120G>C n.40-4120G>C c.761G>C c.4801G>C (p.Gly1601Arg) c.4034-4120G>C (n.4034-4120G>C) c.3436G>C (p.Gly1146Arg) c.5350G>C (p.Gly1784Arg) c.3488-4120G>C (n.3488-4120G>C) c.5077G>C (p.Gly1693Arg) c.4531G>C (p.Gly1511Arg) c.4580-4120G>C (n.4580-4120G>C) c.4258G>C (p.Gly1420Arg) c.3761-4120G>C (n.3761-4120G>C) c.3709G>C (p.Gly1237Arg) c.5623G>C (p.Gly1875Arg) c.5347G>C (p.Gly1783Arg) | |
9 | g.115046461C>T | CA374630676 | TNC | c.318-4120G>A c.3215-4120G>A (n.3215-4120G>A) c.3985G>A (p.Gly1329Arg) c.2017G>A (p.Gly673Arg) c.673G>A (p.Gly225Arg) c.4032G>A c.5074G>A (p.Gly1692Arg) c.4528G>A (p.Gly1510Arg) c.4307-4120G>A (n.4307-4120G>A) n.253-4120G>A n.40-4120G>A c.761G>A c.4801G>A (p.Gly1601Arg) c.4034-4120G>A (n.4034-4120G>A) c.3436G>A (p.Gly1146Arg) c.5350G>A (p.Gly1784Arg) c.3488-4120G>A (n.3488-4120G>A) c.5077G>A (p.Gly1693Arg) c.4531G>A (p.Gly1511Arg) c.4580-4120G>A (n.4580-4120G>A) c.4258G>A (p.Gly1420Arg) c.3761-4120G>A (n.3761-4120G>A) c.3709G>A (p.Gly1237Arg) c.5623G>A (p.Gly1875Arg) c.5347G>A (p.Gly1783Arg) | |
9 | g.115046462A= | CA1874118878 | TNC | c.318-4121T= c.3215-4121T= (n.3215-4121T=) c.3984T= (p.Tyr1328=) c.2016T= (p.Tyr672=) c.672T= (p.Tyr224=) c.4031T= c.5073T= (p.Tyr1691=) c.4527T= (p.Tyr1509=) c.4307-4121T= (n.4307-4121T=) n.253-4121T= n.40-4121T= c.760T= c.4800T= (p.Tyr1600=) c.4034-4121T= (n.4034-4121T=) c.3435T= (p.Tyr1145=) c.5349T= (p.Tyr1783=) c.3488-4121T= (n.3488-4121T=) c.5076T= (p.Tyr1692=) c.4530T= (p.Tyr1510=) c.4580-4121T= (n.4580-4121T=) c.4257T= (p.Tyr1419=) c.3761-4121T= (n.3761-4121T=) c.3708T= (p.Tyr1236=) c.5622T= (p.Tyr1874=) c.5346T= (p.Tyr1782=) | |
9 | g.115046462A>C | CA374630682 | TNC | c.318-4121T>G c.3215-4121T>G (n.3215-4121T>G) c.3984T>G (p.Tyr1328Ter) c.2016T>G (p.Tyr672Ter) c.672T>G (p.Tyr224Ter) c.4031T>G c.5073T>G (p.Tyr1691Ter) c.4527T>G (p.Tyr1509Ter) c.4307-4121T>G (n.4307-4121T>G) n.253-4121T>G n.40-4121T>G c.760T>G c.4800T>G (p.Tyr1600Ter) c.4034-4121T>G (n.4034-4121T>G) c.3435T>G (p.Tyr1145Ter) c.5349T>G (p.Tyr1783Ter) c.3488-4121T>G (n.3488-4121T>G) c.5076T>G (p.Tyr1692Ter) c.4530T>G (p.Tyr1510Ter) c.4580-4121T>G (n.4580-4121T>G) c.4257T>G (p.Tyr1419Ter) c.3761-4121T>G (n.3761-4121T>G) c.3708T>G (p.Tyr1236Ter) c.5622T>G (p.Tyr1874Ter) c.5346T>G (p.Tyr1782Ter) | |
9 | g.115046462A>G | CA466912364 | TNC | c.318-4121T>C c.3215-4121T>C (n.3215-4121T>C) c.3984T>C (p.Tyr1328=) c.2016T>C (p.Tyr672=) c.672T>C (p.Tyr224=) c.4031T>C c.5073T>C (p.Tyr1691=) c.4527T>C (p.Tyr1509=) c.4307-4121T>C (n.4307-4121T>C) n.253-4121T>C n.40-4121T>C c.760T>C c.4800T>C (p.Tyr1600=) c.4034-4121T>C (n.4034-4121T>C) c.3435T>C (p.Tyr1145=) c.5349T>C (p.Tyr1783=) c.3488-4121T>C (n.3488-4121T>C) c.5076T>C (p.Tyr1692=) c.4530T>C (p.Tyr1510=) c.4580-4121T>C (n.4580-4121T>C) c.4257T>C (p.Tyr1419=) c.3761-4121T>C (n.3761-4121T>C) c.3708T>C (p.Tyr1236=) c.5622T>C (p.Tyr1874=) c.5346T>C (p.Tyr1782=) | |
9 | g.115046462A>T | CA5207763 | TNC | c.318-4121T>A c.3215-4121T>A (n.3215-4121T>A) c.3984T>A (p.Tyr1328Ter) c.2016T>A (p.Tyr672Ter) c.672T>A (p.Tyr224Ter) c.4031T>A c.5073T>A (p.Tyr1691Ter) c.4527T>A (p.Tyr1509Ter) c.4307-4121T>A (n.4307-4121T>A) n.253-4121T>A n.40-4121T>A c.760T>A c.4800T>A (p.Tyr1600Ter) c.4034-4121T>A (n.4034-4121T>A) c.3435T>A (p.Tyr1145Ter) c.5349T>A (p.Tyr1783Ter) c.3488-4121T>A (n.3488-4121T>A) c.5076T>A (p.Tyr1692Ter) c.4530T>A (p.Tyr1510Ter) c.4580-4121T>A (n.4580-4121T>A) c.4257T>A (p.Tyr1419Ter) c.3761-4121T>A (n.3761-4121T>A) c.3708T>A (p.Tyr1236Ter) c.5622T>A (p.Tyr1874Ter) c.5346T>A (p.Tyr1782Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046463T>A | CA374630685 | TNC | c.318-4122A>T c.3215-4122A>T (n.3215-4122A>T) c.3983A>T (p.Tyr1328Phe) c.2015A>T (p.Tyr672Phe) c.671A>T (p.Tyr224Phe) c.4030A>T c.5072A>T (p.Tyr1691Phe) c.4526A>T (p.Tyr1509Phe) c.4307-4122A>T (n.4307-4122A>T) n.253-4122A>T n.40-4122A>T c.759A>T c.4799A>T (p.Tyr1600Phe) c.4034-4122A>T (n.4034-4122A>T) c.3434A>T (p.Tyr1145Phe) c.5348A>T (p.Tyr1783Phe) c.3488-4122A>T (n.3488-4122A>T) c.5075A>T (p.Tyr1692Phe) c.4529A>T (p.Tyr1510Phe) c.4580-4122A>T (n.4580-4122A>T) c.4256A>T (p.Tyr1419Phe) c.3761-4122A>T (n.3761-4122A>T) c.3707A>T (p.Tyr1236Phe) c.5621A>T (p.Tyr1874Phe) c.5345A>T (p.Tyr1782Phe) | |
9 | g.115046463T>C | CA374630689 | TNC | c.318-4122A>G c.3215-4122A>G (n.3215-4122A>G) c.3983A>G (p.Tyr1328Cys) c.2015A>G (p.Tyr672Cys) c.671A>G (p.Tyr224Cys) c.4030A>G c.5072A>G (p.Tyr1691Cys) c.4526A>G (p.Tyr1509Cys) c.4307-4122A>G (n.4307-4122A>G) n.253-4122A>G n.40-4122A>G c.759A>G c.4799A>G (p.Tyr1600Cys) c.4034-4122A>G (n.4034-4122A>G) c.3434A>G (p.Tyr1145Cys) c.5348A>G (p.Tyr1783Cys) c.3488-4122A>G (n.3488-4122A>G) c.5075A>G (p.Tyr1692Cys) c.4529A>G (p.Tyr1510Cys) c.4580-4122A>G (n.4580-4122A>G) c.4256A>G (p.Tyr1419Cys) c.3761-4122A>G (n.3761-4122A>G) c.3707A>G (p.Tyr1236Cys) c.5621A>G (p.Tyr1874Cys) c.5345A>G (p.Tyr1782Cys) | |
9 | g.115046463T>G | CA374630687 | TNC | c.318-4122A>C c.3215-4122A>C (n.3215-4122A>C) c.3983A>C (p.Tyr1328Ser) c.2015A>C (p.Tyr672Ser) c.671A>C (p.Tyr224Ser) c.4030A>C c.5072A>C (p.Tyr1691Ser) c.4526A>C (p.Tyr1509Ser) c.4307-4122A>C (n.4307-4122A>C) n.253-4122A>C n.40-4122A>C c.759A>C c.4799A>C (p.Tyr1600Ser) c.4034-4122A>C (n.4034-4122A>C) c.3434A>C (p.Tyr1145Ser) c.5348A>C (p.Tyr1783Ser) c.3488-4122A>C (n.3488-4122A>C) c.5075A>C (p.Tyr1692Ser) c.4529A>C (p.Tyr1510Ser) c.4580-4122A>C (n.4580-4122A>C) c.4256A>C (p.Tyr1419Ser) c.3761-4122A>C (n.3761-4122A>C) c.3707A>C (p.Tyr1236Ser) c.5621A>C (p.Tyr1874Ser) c.5345A>C (p.Tyr1782Ser) | |
9 | g.115046464A>C | CA374630692 | TNC | c.318-4123T>G c.3215-4123T>G (n.3215-4123T>G) c.3982T>G (p.Tyr1328Asp) c.2014T>G (p.Tyr672Asp) c.670T>G (p.Tyr224Asp) c.4029T>G c.5071T>G (p.Tyr1691Asp) c.4525T>G (p.Tyr1509Asp) c.4307-4123T>G (n.4307-4123T>G) n.253-4123T>G n.40-4123T>G c.758T>G c.4798T>G (p.Tyr1600Asp) c.4034-4123T>G (n.4034-4123T>G) c.3433T>G (p.Tyr1145Asp) c.5347T>G (p.Tyr1783Asp) c.3488-4123T>G (n.3488-4123T>G) c.5074T>G (p.Tyr1692Asp) c.4528T>G (p.Tyr1510Asp) c.4580-4123T>G (n.4580-4123T>G) c.4255T>G (p.Tyr1419Asp) c.3761-4123T>G (n.3761-4123T>G) c.3706T>G (p.Tyr1236Asp) c.5620T>G (p.Tyr1874Asp) c.5344T>G (p.Tyr1782Asp) | |
9 | g.115046464A>G | CA374630694 | TNC | c.318-4123T>C c.3215-4123T>C (n.3215-4123T>C) c.3982T>C (p.Tyr1328His) c.2014T>C (p.Tyr672His) c.670T>C (p.Tyr224His) c.4029T>C c.5071T>C (p.Tyr1691His) c.4525T>C (p.Tyr1509His) c.4307-4123T>C (n.4307-4123T>C) n.253-4123T>C n.40-4123T>C c.758T>C c.4798T>C (p.Tyr1600His) c.4034-4123T>C (n.4034-4123T>C) c.3433T>C (p.Tyr1145His) c.5347T>C (p.Tyr1783His) c.3488-4123T>C (n.3488-4123T>C) c.5074T>C (p.Tyr1692His) c.4528T>C (p.Tyr1510His) c.4580-4123T>C (n.4580-4123T>C) c.4255T>C (p.Tyr1419His) c.3761-4123T>C (n.3761-4123T>C) c.3706T>C (p.Tyr1236His) c.5620T>C (p.Tyr1874His) c.5344T>C (p.Tyr1782His) | gnomAD v4 |
9 | g.115046464A>T | CA374630695 | TNC | c.318-4123T>A c.3215-4123T>A (n.3215-4123T>A) c.3982T>A (p.Tyr1328Asn) c.2014T>A (p.Tyr672Asn) c.670T>A (p.Tyr224Asn) c.4029T>A c.5071T>A (p.Tyr1691Asn) c.4525T>A (p.Tyr1509Asn) c.4307-4123T>A (n.4307-4123T>A) n.253-4123T>A n.40-4123T>A c.758T>A c.4798T>A (p.Tyr1600Asn) c.4034-4123T>A (n.4034-4123T>A) c.3433T>A (p.Tyr1145Asn) c.5347T>A (p.Tyr1783Asn) c.3488-4123T>A (n.3488-4123T>A) c.5074T>A (p.Tyr1692Asn) c.4528T>A (p.Tyr1510Asn) c.4580-4123T>A (n.4580-4123T>A) c.4255T>A (p.Tyr1419Asn) c.3761-4123T>A (n.3761-4123T>A) c.3706T>A (p.Tyr1236Asn) c.5620T>A (p.Tyr1874Asn) c.5344T>A (p.Tyr1782Asn) | |
9 | g.115046465G>A | CA466912368 | TNC | c.318-4124C>T c.3215-4124C>T (n.3215-4124C>T) c.3981C>T (p.Leu1327=) c.2013C>T (p.Leu671=) c.669C>T (p.Leu223=) c.4028C>T c.5070C>T (p.Leu1690=) c.4524C>T (p.Leu1508=) c.4307-4124C>T (n.4307-4124C>T) n.253-4124C>T n.40-4124C>T c.757C>T c.4797C>T (p.Leu1599=) c.4034-4124C>T (n.4034-4124C>T) c.3432C>T (p.Leu1144=) c.5346C>T (p.Leu1782=) c.3488-4124C>T (n.3488-4124C>T) c.5073C>T (p.Leu1691=) c.4527C>T (p.Leu1509=) c.4580-4124C>T (n.4580-4124C>T) c.4254C>T (p.Leu1418=) c.3761-4124C>T (n.3761-4124C>T) c.3705C>T (p.Leu1235=) c.5619C>T (p.Leu1873=) c.5343C>T (p.Leu1781=) | |
9 | g.115046465G>C | CA466912369 | TNC | c.318-4124C>G c.3215-4124C>G (n.3215-4124C>G) c.3981C>G (p.Leu1327=) c.2013C>G (p.Leu671=) c.669C>G (p.Leu223=) c.4028C>G c.5070C>G (p.Leu1690=) c.4524C>G (p.Leu1508=) c.4307-4124C>G (n.4307-4124C>G) n.253-4124C>G n.40-4124C>G c.757C>G c.4797C>G (p.Leu1599=) c.4034-4124C>G (n.4034-4124C>G) c.3432C>G (p.Leu1144=) c.5346C>G (p.Leu1782=) c.3488-4124C>G (n.3488-4124C>G) c.5073C>G (p.Leu1691=) c.4527C>G (p.Leu1509=) c.4580-4124C>G (n.4580-4124C>G) c.4254C>G (p.Leu1418=) c.3761-4124C>G (n.3761-4124C>G) c.3705C>G (p.Leu1235=) c.5619C>G (p.Leu1873=) c.5343C>G (p.Leu1781=) | |
9 | g.115046465G>T | CA466912370 | TNC | c.318-4124C>A c.3215-4124C>A (n.3215-4124C>A) c.3981C>A (p.Leu1327=) c.2013C>A (p.Leu671=) c.669C>A (p.Leu223=) c.4028C>A c.5070C>A (p.Leu1690=) c.4524C>A (p.Leu1508=) c.4307-4124C>A (n.4307-4124C>A) n.253-4124C>A n.40-4124C>A c.757C>A c.4797C>A (p.Leu1599=) c.4034-4124C>A (n.4034-4124C>A) c.3432C>A (p.Leu1144=) c.5346C>A (p.Leu1782=) c.3488-4124C>A (n.3488-4124C>A) c.5073C>A (p.Leu1691=) c.4527C>A (p.Leu1509=) c.4580-4124C>A (n.4580-4124C>A) c.4254C>A (p.Leu1418=) c.3761-4124C>A (n.3761-4124C>A) c.3705C>A (p.Leu1235=) c.5619C>A (p.Leu1873=) c.5343C>A (p.Leu1781=) | |
9 | g.115046466A>C | CA374630697 | TNC | c.318-4125T>G c.3215-4125T>G (n.3215-4125T>G) c.3980T>G (p.Leu1327Arg) c.2012T>G (p.Leu671Arg) c.668T>G (p.Leu223Arg) c.4027T>G c.5069T>G (p.Leu1690Arg) c.4523T>G (p.Leu1508Arg) c.4307-4125T>G (n.4307-4125T>G) n.253-4125T>G n.40-4125T>G c.756T>G c.4796T>G (p.Leu1599Arg) c.4034-4125T>G (n.4034-4125T>G) c.3431T>G (p.Leu1144Arg) c.5345T>G (p.Leu1782Arg) c.3488-4125T>G (n.3488-4125T>G) c.5072T>G (p.Leu1691Arg) c.4526T>G (p.Leu1509Arg) c.4580-4125T>G (n.4580-4125T>G) c.4253T>G (p.Leu1418Arg) c.3761-4125T>G (n.3761-4125T>G) c.3704T>G (p.Leu1235Arg) c.5618T>G (p.Leu1873Arg) c.5342T>G (p.Leu1781Arg) | |
9 | g.115046466A>G | CA374630698 | TNC | c.318-4125T>C c.3215-4125T>C (n.3215-4125T>C) c.3980T>C (p.Leu1327Pro) c.2012T>C (p.Leu671Pro) c.668T>C (p.Leu223Pro) c.4027T>C c.5069T>C (p.Leu1690Pro) c.4523T>C (p.Leu1508Pro) c.4307-4125T>C (n.4307-4125T>C) n.253-4125T>C n.40-4125T>C c.756T>C c.4796T>C (p.Leu1599Pro) c.4034-4125T>C (n.4034-4125T>C) c.3431T>C (p.Leu1144Pro) c.5345T>C (p.Leu1782Pro) c.3488-4125T>C (n.3488-4125T>C) c.5072T>C (p.Leu1691Pro) c.4526T>C (p.Leu1509Pro) c.4580-4125T>C (n.4580-4125T>C) c.4253T>C (p.Leu1418Pro) c.3761-4125T>C (n.3761-4125T>C) c.3704T>C (p.Leu1235Pro) c.5618T>C (p.Leu1873Pro) c.5342T>C (p.Leu1781Pro) | |
9 | g.115046466A>T | CA374630700 | TNC | c.318-4125T>A c.3215-4125T>A (n.3215-4125T>A) c.3980T>A (p.Leu1327His) c.2012T>A (p.Leu671His) c.668T>A (p.Leu223His) c.4027T>A c.5069T>A (p.Leu1690His) c.4523T>A (p.Leu1508His) c.4307-4125T>A (n.4307-4125T>A) n.253-4125T>A n.40-4125T>A c.756T>A c.4796T>A (p.Leu1599His) c.4034-4125T>A (n.4034-4125T>A) c.3431T>A (p.Leu1144His) c.5345T>A (p.Leu1782His) c.3488-4125T>A (n.3488-4125T>A) c.5072T>A (p.Leu1691His) c.4526T>A (p.Leu1509His) c.4580-4125T>A (n.4580-4125T>A) c.4253T>A (p.Leu1418His) c.3761-4125T>A (n.3761-4125T>A) c.3704T>A (p.Leu1235His) c.5618T>A (p.Leu1873His) c.5342T>A (p.Leu1781His) | |
9 | g.115046467G>A | CA5207764 | TNC | c.318-4126C>T c.3215-4126C>T (n.3215-4126C>T) c.3979C>T (p.Leu1327Phe) c.2011C>T (p.Leu671Phe) c.667C>T (p.Leu223Phe) c.4026C>T c.5068C>T (p.Leu1690Phe) c.4522C>T (p.Leu1508Phe) c.4307-4126C>T (n.4307-4126C>T) n.386C>T n.253-4126C>T n.40-4126C>T c.755C>T c.4795C>T (p.Leu1599Phe) c.4034-4126C>T (n.4034-4126C>T) c.3430C>T (p.Leu1144Phe) c.5344C>T (p.Leu1782Phe) c.3488-4126C>T (n.3488-4126C>T) c.5071C>T (p.Leu1691Phe) c.4525C>T (p.Leu1509Phe) c.4580-4126C>T (n.4580-4126C>T) c.4252C>T (p.Leu1418Phe) c.3761-4126C>T (n.3761-4126C>T) c.3703C>T (p.Leu1235Phe) c.5617C>T (p.Leu1873Phe) c.5341C>T (p.Leu1781Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046467G>C | CA374630703 | TNC | c.318-4126C>G c.3215-4126C>G (n.3215-4126C>G) c.3979C>G (p.Leu1327Val) c.2011C>G (p.Leu671Val) c.667C>G (p.Leu223Val) c.4026C>G c.5068C>G (p.Leu1690Val) c.4522C>G (p.Leu1508Val) c.4307-4126C>G (n.4307-4126C>G) n.386C>G n.253-4126C>G n.40-4126C>G c.755C>G c.4795C>G (p.Leu1599Val) c.4034-4126C>G (n.4034-4126C>G) c.3430C>G (p.Leu1144Val) c.5344C>G (p.Leu1782Val) c.3488-4126C>G (n.3488-4126C>G) c.5071C>G (p.Leu1691Val) c.4525C>G (p.Leu1509Val) c.4580-4126C>G (n.4580-4126C>G) c.4252C>G (p.Leu1418Val) c.3761-4126C>G (n.3761-4126C>G) c.3703C>G (p.Leu1235Val) c.5617C>G (p.Leu1873Val) c.5341C>G (p.Leu1781Val) | |
9 | g.115046467G= | CA1874118879 | TNC | c.318-4126C= c.3215-4126C= (n.3215-4126C=) c.3979C= (p.Leu1327=) c.2011C= (p.Leu671=) c.667C= (p.Leu223=) c.4026C= c.5068C= (p.Leu1690=) c.4522C= (p.Leu1508=) c.4307-4126C= (n.4307-4126C=) n.386C= n.253-4126C= n.40-4126C= c.755C= c.4795C= (p.Leu1599=) c.4034-4126C= (n.4034-4126C=) c.3430C= (p.Leu1144=) c.5344C= (p.Leu1782=) c.3488-4126C= (n.3488-4126C=) c.5071C= (p.Leu1691=) c.4525C= (p.Leu1509=) c.4580-4126C= (n.4580-4126C=) c.4252C= (p.Leu1418=) c.3761-4126C= (n.3761-4126C=) c.3703C= (p.Leu1235=) c.5617C= (p.Leu1873=) c.5341C= (p.Leu1781=) | |
9 | g.115046467G>T | CA374630705 | TNC | c.318-4126C>A c.3215-4126C>A (n.3215-4126C>A) c.3979C>A (p.Leu1327Ile) c.2011C>A (p.Leu671Ile) c.667C>A (p.Leu223Ile) c.4026C>A c.5068C>A (p.Leu1690Ile) c.4522C>A (p.Leu1508Ile) c.4307-4126C>A (n.4307-4126C>A) n.386C>A n.253-4126C>A n.40-4126C>A c.755C>A c.4795C>A (p.Leu1599Ile) c.4034-4126C>A (n.4034-4126C>A) c.3430C>A (p.Leu1144Ile) c.5344C>A (p.Leu1782Ile) c.3488-4126C>A (n.3488-4126C>A) c.5071C>A (p.Leu1691Ile) c.4525C>A (p.Leu1509Ile) c.4580-4126C>A (n.4580-4126C>A) c.4252C>A (p.Leu1418Ile) c.3761-4126C>A (n.3761-4126C>A) c.3703C>A (p.Leu1235Ile) c.5617C>A (p.Leu1873Ile) c.5341C>A (p.Leu1781Ile) | |
9 | g.115046468T>A | CA374630707 | TNC | c.318-4127A>T c.3215-4127A>T (n.3215-4127A>T) c.3978A>T (p.Glu1326Asp) c.2010A>T (p.Glu670Asp) c.666A>T (p.Glu222Asp) c.4025A>T c.5067A>T (p.Glu1689Asp) c.4521A>T (p.Glu1507Asp) c.4307-4127A>T (n.4307-4127A>T) n.385A>T n.253-4127A>T n.40-4127A>T c.754A>T c.4794A>T (p.Glu1598Asp) c.4034-4127A>T (n.4034-4127A>T) c.3429A>T (p.Glu1143Asp) c.5343A>T (p.Glu1781Asp) c.3488-4127A>T (n.3488-4127A>T) c.5070A>T (p.Glu1690Asp) c.4524A>T (p.Glu1508Asp) c.4580-4127A>T (n.4580-4127A>T) c.4251A>T (p.Glu1417Asp) c.3761-4127A>T (n.3761-4127A>T) c.3702A>T (p.Glu1234Asp) c.5616A>T (p.Glu1872Asp) c.5340A>T (p.Glu1780Asp) | |
9 | g.115046468T>C | CA466912373 | TNC | c.318-4127A>G c.3215-4127A>G (n.3215-4127A>G) c.3978A>G (p.Glu1326=) c.2010A>G (p.Glu670=) c.666A>G (p.Glu222=) c.4025A>G c.5067A>G (p.Glu1689=) c.4521A>G (p.Glu1507=) c.4307-4127A>G (n.4307-4127A>G) n.385A>G n.253-4127A>G n.40-4127A>G c.754A>G c.4794A>G (p.Glu1598=) c.4034-4127A>G (n.4034-4127A>G) c.3429A>G (p.Glu1143=) c.5343A>G (p.Glu1781=) c.3488-4127A>G (n.3488-4127A>G) c.5070A>G (p.Glu1690=) c.4524A>G (p.Glu1508=) c.4580-4127A>G (n.4580-4127A>G) c.4251A>G (p.Glu1417=) c.3761-4127A>G (n.3761-4127A>G) c.3702A>G (p.Glu1234=) c.5616A>G (p.Glu1872=) c.5340A>G (p.Glu1780=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046468T>G | CA374630709 | TNC | c.318-4127A>C c.3215-4127A>C (n.3215-4127A>C) c.3978A>C (p.Glu1326Asp) c.2010A>C (p.Glu670Asp) c.666A>C (p.Glu222Asp) c.4025A>C c.5067A>C (p.Glu1689Asp) c.4521A>C (p.Glu1507Asp) c.4307-4127A>C (n.4307-4127A>C) n.385A>C n.253-4127A>C n.40-4127A>C c.754A>C c.4794A>C (p.Glu1598Asp) c.4034-4127A>C (n.4034-4127A>C) c.3429A>C (p.Glu1143Asp) c.5343A>C (p.Glu1781Asp) c.3488-4127A>C (n.3488-4127A>C) c.5070A>C (p.Glu1690Asp) c.4524A>C (p.Glu1508Asp) c.4580-4127A>C (n.4580-4127A>C) c.4251A>C (p.Glu1417Asp) c.3761-4127A>C (n.3761-4127A>C) c.3702A>C (p.Glu1234Asp) c.5616A>C (p.Glu1872Asp) c.5340A>C (p.Glu1780Asp) | COSMIC |
9 | g.115046468T= | CA1874118880 | TNC | c.318-4127A= c.3215-4127A= (n.3215-4127A=) c.3978A= (p.Glu1326=) c.2010A= (p.Glu670=) c.666A= (p.Glu222=) c.4025A= c.5067A= (p.Glu1689=) c.4521A= (p.Glu1507=) c.4307-4127A= (n.4307-4127A=) n.385A= n.253-4127A= n.40-4127A= c.754A= c.4794A= (p.Glu1598=) c.4034-4127A= (n.4034-4127A=) c.3429A= (p.Glu1143=) c.5343A= (p.Glu1781=) c.3488-4127A= (n.3488-4127A=) c.5070A= (p.Glu1690=) c.4524A= (p.Glu1508=) c.4580-4127A= (n.4580-4127A=) c.4251A= (p.Glu1417=) c.3761-4127A= (n.3761-4127A=) c.3702A= (p.Glu1234=) c.5616A= (p.Glu1872=) c.5340A= (p.Glu1780=) | |
9 | g.115046469T>A | CA374630715 | TNC | c.318-4128A>T c.3215-4128A>T (n.3215-4128A>T) c.3977A>T (p.Glu1326Val) c.2009A>T (p.Glu670Val) c.665A>T (p.Glu222Val) c.4024A>T c.5066A>T (p.Glu1689Val) c.4520A>T (p.Glu1507Val) c.4307-4128A>T (n.4307-4128A>T) n.384A>T n.253-4128A>T n.40-4128A>T c.753A>T c.4793A>T (p.Glu1598Val) c.4034-4128A>T (n.4034-4128A>T) c.3428A>T (p.Glu1143Val) c.5342A>T (p.Glu1781Val) c.3488-4128A>T (n.3488-4128A>T) c.5069A>T (p.Glu1690Val) c.4523A>T (p.Glu1508Val) c.4580-4128A>T (n.4580-4128A>T) c.4250A>T (p.Glu1417Val) c.3761-4128A>T (n.3761-4128A>T) c.3701A>T (p.Glu1234Val) c.5615A>T (p.Glu1872Val) c.5339A>T (p.Glu1780Val) | |
9 | g.115046469T>C | CA374630711 | TNC | c.318-4128A>G c.3215-4128A>G (n.3215-4128A>G) c.3977A>G (p.Glu1326Gly) c.2009A>G (p.Glu670Gly) c.665A>G (p.Glu222Gly) c.4024A>G c.5066A>G (p.Glu1689Gly) c.4520A>G (p.Glu1507Gly) c.4307-4128A>G (n.4307-4128A>G) n.384A>G n.253-4128A>G n.40-4128A>G c.753A>G c.4793A>G (p.Glu1598Gly) c.4034-4128A>G (n.4034-4128A>G) c.3428A>G (p.Glu1143Gly) c.5342A>G (p.Glu1781Gly) c.3488-4128A>G (n.3488-4128A>G) c.5069A>G (p.Glu1690Gly) c.4523A>G (p.Glu1508Gly) c.4580-4128A>G (n.4580-4128A>G) c.4250A>G (p.Glu1417Gly) c.3761-4128A>G (n.3761-4128A>G) c.3701A>G (p.Glu1234Gly) c.5615A>G (p.Glu1872Gly) c.5339A>G (p.Glu1780Gly) | |
9 | g.115046469T>G | CA374630713 | TNC | c.318-4128A>C c.3215-4128A>C (n.3215-4128A>C) c.3977A>C (p.Glu1326Ala) c.2009A>C (p.Glu670Ala) c.665A>C (p.Glu222Ala) c.4024A>C c.5066A>C (p.Glu1689Ala) c.4520A>C (p.Glu1507Ala) c.4307-4128A>C (n.4307-4128A>C) n.384A>C n.253-4128A>C n.40-4128A>C c.753A>C c.4793A>C (p.Glu1598Ala) c.4034-4128A>C (n.4034-4128A>C) c.3428A>C (p.Glu1143Ala) c.5342A>C (p.Glu1781Ala) c.3488-4128A>C (n.3488-4128A>C) c.5069A>C (p.Glu1690Ala) c.4523A>C (p.Glu1508Ala) c.4580-4128A>C (n.4580-4128A>C) c.4250A>C (p.Glu1417Ala) c.3761-4128A>C (n.3761-4128A>C) c.3701A>C (p.Glu1234Ala) c.5615A>C (p.Glu1872Ala) c.5339A>C (p.Glu1780Ala) | |
9 | g.115046470C>A | CA374630717 | TNC | c.318-4129G>T c.3215-4129G>T (n.3215-4129G>T) c.3976G>T (p.Glu1326Ter) c.2008G>T (p.Glu670Ter) c.664G>T (p.Glu222Ter) c.4023G>T c.5065G>T (p.Glu1689Ter) c.4519G>T (p.Glu1507Ter) c.4307-4129G>T (n.4307-4129G>T) n.383G>T n.253-4129G>T n.40-4129G>T c.752G>T c.4792G>T (p.Glu1598Ter) c.4034-4129G>T (n.4034-4129G>T) c.3427G>T (p.Glu1143Ter) c.5341G>T (p.Glu1781Ter) c.3488-4129G>T (n.3488-4129G>T) c.5068G>T (p.Glu1690Ter) c.4522G>T (p.Glu1508Ter) c.4580-4129G>T (n.4580-4129G>T) c.4249G>T (p.Glu1417Ter) c.3761-4129G>T (n.3761-4129G>T) c.3700G>T (p.Glu1234Ter) c.5614G>T (p.Glu1872Ter) c.5338G>T (p.Glu1780Ter) | COSMIC |
9 | g.115046470C>G | CA374630719 | TNC | c.318-4129G>C c.3215-4129G>C (n.3215-4129G>C) c.3976G>C (p.Glu1326Gln) c.2008G>C (p.Glu670Gln) c.664G>C (p.Glu222Gln) c.4023G>C c.5065G>C (p.Glu1689Gln) c.4519G>C (p.Glu1507Gln) c.4307-4129G>C (n.4307-4129G>C) n.383G>C n.253-4129G>C n.40-4129G>C c.752G>C c.4792G>C (p.Glu1598Gln) c.4034-4129G>C (n.4034-4129G>C) c.3427G>C (p.Glu1143Gln) c.5341G>C (p.Glu1781Gln) c.3488-4129G>C (n.3488-4129G>C) c.5068G>C (p.Glu1690Gln) c.4522G>C (p.Glu1508Gln) c.4580-4129G>C (n.4580-4129G>C) c.4249G>C (p.Glu1417Gln) c.3761-4129G>C (n.3761-4129G>C) c.3700G>C (p.Glu1234Gln) c.5614G>C (p.Glu1872Gln) c.5338G>C (p.Glu1780Gln) | |
9 | g.115046470C>T | CA374630721 | TNC | c.318-4129G>A c.3215-4129G>A (n.3215-4129G>A) c.3976G>A (p.Glu1326Lys) c.2008G>A (p.Glu670Lys) c.664G>A (p.Glu222Lys) c.4023G>A c.5065G>A (p.Glu1689Lys) c.4519G>A (p.Glu1507Lys) c.4307-4129G>A (n.4307-4129G>A) n.383G>A n.253-4129G>A n.40-4129G>A c.752G>A c.4792G>A (p.Glu1598Lys) c.4034-4129G>A (n.4034-4129G>A) c.3427G>A (p.Glu1143Lys) c.5341G>A (p.Glu1781Lys) c.3488-4129G>A (n.3488-4129G>A) c.5068G>A (p.Glu1690Lys) c.4522G>A (p.Glu1508Lys) c.4580-4129G>A (n.4580-4129G>A) c.4249G>A (p.Glu1417Lys) c.3761-4129G>A (n.3761-4129G>A) c.3700G>A (p.Glu1234Lys) c.5614G>A (p.Glu1872Lys) c.5338G>A (p.Glu1780Lys) | gnomAD v4 COSMIC |
9 | g.115046471A>C | CA374630722 | TNC | c.318-4130T>G c.3215-4130T>G (n.3215-4130T>G) c.3975T>G (p.Ile1325Met) c.2007T>G (p.Ile669Met) c.663T>G (p.Ile221Met) c.4022T>G c.5064T>G (p.Ile1688Met) c.4518T>G (p.Ile1506Met) c.4307-4130T>G (n.4307-4130T>G) n.382T>G n.253-4130T>G n.40-4130T>G c.751T>G c.4791T>G (p.Ile1597Met) c.4034-4130T>G (n.4034-4130T>G) c.3426T>G (p.Ile1142Met) c.5340T>G (p.Ile1780Met) c.3488-4130T>G (n.3488-4130T>G) c.5067T>G (p.Ile1689Met) c.4521T>G (p.Ile1507Met) c.4580-4130T>G (n.4580-4130T>G) c.4248T>G (p.Ile1416Met) c.3761-4130T>G (n.3761-4130T>G) c.3699T>G (p.Ile1233Met) c.5613T>G (p.Ile1871Met) c.5337T>G (p.Ile1779Met) | |
9 | g.115046471A>G | CA466912375 | TNC | c.318-4130T>C c.3215-4130T>C (n.3215-4130T>C) c.3975T>C (p.Ile1325=) c.2007T>C (p.Ile669=) c.663T>C (p.Ile221=) c.4022T>C c.5064T>C (p.Ile1688=) c.4518T>C (p.Ile1506=) c.4307-4130T>C (n.4307-4130T>C) n.382T>C n.253-4130T>C n.40-4130T>C c.751T>C c.4791T>C (p.Ile1597=) c.4034-4130T>C (n.4034-4130T>C) c.3426T>C (p.Ile1142=) c.5340T>C (p.Ile1780=) c.3488-4130T>C (n.3488-4130T>C) c.5067T>C (p.Ile1689=) c.4521T>C (p.Ile1507=) c.4580-4130T>C (n.4580-4130T>C) c.4248T>C (p.Ile1416=) c.3761-4130T>C (n.3761-4130T>C) c.3699T>C (p.Ile1233=) c.5613T>C (p.Ile1871=) c.5337T>C (p.Ile1779=) | |
9 | g.115046471A>T | CA466912376 | TNC | c.318-4130T>A c.3215-4130T>A (n.3215-4130T>A) c.3975T>A (p.Ile1325=) c.2007T>A (p.Ile669=) c.663T>A (p.Ile221=) c.4022T>A c.5064T>A (p.Ile1688=) c.4518T>A (p.Ile1506=) c.4307-4130T>A (n.4307-4130T>A) n.382T>A n.253-4130T>A n.40-4130T>A c.751T>A c.4791T>A (p.Ile1597=) c.4034-4130T>A (n.4034-4130T>A) c.3426T>A (p.Ile1142=) c.5340T>A (p.Ile1780=) c.3488-4130T>A (n.3488-4130T>A) c.5067T>A (p.Ile1689=) c.4521T>A (p.Ile1507=) c.4580-4130T>A (n.4580-4130T>A) c.4248T>A (p.Ile1416=) c.3761-4130T>A (n.3761-4130T>A) c.3699T>A (p.Ile1233=) c.5613T>A (p.Ile1871=) c.5337T>A (p.Ile1779=) | |
9 | g.115046472A= | CA1874118881 | TNC | c.318-4131T= c.3215-4131T= (n.3215-4131T=) c.3974T= (p.Ile1325=) c.2006T= (p.Ile669=) c.662T= (p.Ile221=) c.4021T= c.5063T= (p.Ile1688=) c.4517T= (p.Ile1506=) c.4307-4131T= (n.4307-4131T=) n.381T= n.253-4131T= n.40-4131T= c.750T= c.4790T= (p.Ile1597=) c.4034-4131T= (n.4034-4131T=) c.3425T= (p.Ile1142=) c.5339T= (p.Ile1780=) c.3488-4131T= (n.3488-4131T=) c.5066T= (p.Ile1689=) c.4520T= (p.Ile1507=) c.4580-4131T= (n.4580-4131T=) c.4247T= (p.Ile1416=) c.3761-4131T= (n.3761-4131T=) c.3698T= (p.Ile1233=) c.5612T= (p.Ile1871=) c.5336T= (p.Ile1779=) | |
9 | g.115046472A>C | CA374630724 | TNC | c.318-4131T>G c.3215-4131T>G (n.3215-4131T>G) c.3974T>G (p.Ile1325Ser) c.2006T>G (p.Ile669Ser) c.662T>G (p.Ile221Ser) c.4021T>G c.5063T>G (p.Ile1688Ser) c.4517T>G (p.Ile1506Ser) c.4307-4131T>G (n.4307-4131T>G) n.381T>G n.253-4131T>G n.40-4131T>G c.750T>G c.4790T>G (p.Ile1597Ser) c.4034-4131T>G (n.4034-4131T>G) c.3425T>G (p.Ile1142Ser) c.5339T>G (p.Ile1780Ser) c.3488-4131T>G (n.3488-4131T>G) c.5066T>G (p.Ile1689Ser) c.4520T>G (p.Ile1507Ser) c.4580-4131T>G (n.4580-4131T>G) c.4247T>G (p.Ile1416Ser) c.3761-4131T>G (n.3761-4131T>G) c.3698T>G (p.Ile1233Ser) c.5612T>G (p.Ile1871Ser) c.5336T>G (p.Ile1779Ser) | |
9 | g.115046472A>G | CA5207765 | TNC | c.318-4131T>C c.3215-4131T>C (n.3215-4131T>C) c.3974T>C (p.Ile1325Thr) c.2006T>C (p.Ile669Thr) c.662T>C (p.Ile221Thr) c.4021T>C c.5063T>C (p.Ile1688Thr) c.4517T>C (p.Ile1506Thr) c.4307-4131T>C (n.4307-4131T>C) n.381T>C n.253-4131T>C n.40-4131T>C c.750T>C c.4790T>C (p.Ile1597Thr) c.4034-4131T>C (n.4034-4131T>C) c.3425T>C (p.Ile1142Thr) c.5339T>C (p.Ile1780Thr) c.3488-4131T>C (n.3488-4131T>C) c.5066T>C (p.Ile1689Thr) c.4520T>C (p.Ile1507Thr) c.4580-4131T>C (n.4580-4131T>C) c.4247T>C (p.Ile1416Thr) c.3761-4131T>C (n.3761-4131T>C) c.3698T>C (p.Ile1233Thr) c.5612T>C (p.Ile1871Thr) c.5336T>C (p.Ile1779Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046472A>T | CA374630725 | TNC | c.318-4131T>A c.3215-4131T>A (n.3215-4131T>A) c.3974T>A (p.Ile1325Asn) c.2006T>A (p.Ile669Asn) c.662T>A (p.Ile221Asn) c.4021T>A c.5063T>A (p.Ile1688Asn) c.4517T>A (p.Ile1506Asn) c.4307-4131T>A (n.4307-4131T>A) n.381T>A n.253-4131T>A n.40-4131T>A c.750T>A c.4790T>A (p.Ile1597Asn) c.4034-4131T>A (n.4034-4131T>A) c.3425T>A (p.Ile1142Asn) c.5339T>A (p.Ile1780Asn) c.3488-4131T>A (n.3488-4131T>A) c.5066T>A (p.Ile1689Asn) c.4520T>A (p.Ile1507Asn) c.4580-4131T>A (n.4580-4131T>A) c.4247T>A (p.Ile1416Asn) c.3761-4131T>A (n.3761-4131T>A) c.3698T>A (p.Ile1233Asn) c.5612T>A (p.Ile1871Asn) c.5336T>A (p.Ile1779Asn) | |
9 | g.115046473T>A | CA374630728 | TNC | c.318-4132A>T c.3215-4132A>T (n.3215-4132A>T) c.3973A>T (p.Ile1325Phe) c.2005A>T (p.Ile669Phe) c.661A>T (p.Ile221Phe) c.4020A>T c.5062A>T (p.Ile1688Phe) c.4516A>T (p.Ile1506Phe) c.4307-4132A>T (n.4307-4132A>T) n.380A>T n.253-4132A>T n.40-4132A>T c.749A>T c.4789A>T (p.Ile1597Phe) c.4034-4132A>T (n.4034-4132A>T) c.3424A>T (p.Ile1142Phe) c.5338A>T (p.Ile1780Phe) c.3488-4132A>T (n.3488-4132A>T) c.5065A>T (p.Ile1689Phe) c.4519A>T (p.Ile1507Phe) c.4580-4132A>T (n.4580-4132A>T) c.4246A>T (p.Ile1416Phe) c.3761-4132A>T (n.3761-4132A>T) c.3697A>T (p.Ile1233Phe) c.5611A>T (p.Ile1871Phe) c.5335A>T (p.Ile1779Phe) | |
9 | g.115046473T>C | CA5207766 | TNC | c.318-4132A>G c.3215-4132A>G (n.3215-4132A>G) c.3973A>G (p.Ile1325Val) c.2005A>G (p.Ile669Val) c.661A>G (p.Ile221Val) c.4020A>G c.5062A>G (p.Ile1688Val) c.4516A>G (p.Ile1506Val) c.4307-4132A>G (n.4307-4132A>G) n.380A>G n.253-4132A>G n.40-4132A>G c.749A>G c.4789A>G (p.Ile1597Val) c.4034-4132A>G (n.4034-4132A>G) c.3424A>G (p.Ile1142Val) c.5338A>G (p.Ile1780Val) c.3488-4132A>G (n.3488-4132A>G) c.5065A>G (p.Ile1689Val) c.4519A>G (p.Ile1507Val) c.4580-4132A>G (n.4580-4132A>G) c.4246A>G (p.Ile1416Val) c.3761-4132A>G (n.3761-4132A>G) c.3697A>G (p.Ile1233Val) c.5611A>G (p.Ile1871Val) c.5335A>G (p.Ile1779Val) | dbSNP ExAC gnomAD v2 |
9 | g.115046473T>G | CA374630731 | TNC | c.318-4132A>C c.3215-4132A>C (n.3215-4132A>C) c.3973A>C (p.Ile1325Leu) c.2005A>C (p.Ile669Leu) c.661A>C (p.Ile221Leu) c.4020A>C c.5062A>C (p.Ile1688Leu) c.4516A>C (p.Ile1506Leu) c.4307-4132A>C (n.4307-4132A>C) n.380A>C n.253-4132A>C n.40-4132A>C c.749A>C c.4789A>C (p.Ile1597Leu) c.4034-4132A>C (n.4034-4132A>C) c.3424A>C (p.Ile1142Leu) c.5338A>C (p.Ile1780Leu) c.3488-4132A>C (n.3488-4132A>C) c.5065A>C (p.Ile1689Leu) c.4519A>C (p.Ile1507Leu) c.4580-4132A>C (n.4580-4132A>C) c.4246A>C (p.Ile1416Leu) c.3761-4132A>C (n.3761-4132A>C) c.3697A>C (p.Ile1233Leu) c.5611A>C (p.Ile1871Leu) c.5335A>C (p.Ile1779Leu) | |
9 | g.115046473T= | CA1874118882 | TNC | c.318-4132A= c.3215-4132A= (n.3215-4132A=) c.3973A= (p.Ile1325=) c.2005A= (p.Ile669=) c.661A= (p.Ile221=) c.4020A= c.5062A= (p.Ile1688=) c.4516A= (p.Ile1506=) c.4307-4132A= (n.4307-4132A=) n.380A= n.253-4132A= n.40-4132A= c.749A= c.4789A= (p.Ile1597=) c.4034-4132A= (n.4034-4132A=) c.3424A= (p.Ile1142=) c.5338A= (p.Ile1780=) c.3488-4132A= (n.3488-4132A=) c.5065A= (p.Ile1689=) c.4519A= (p.Ile1507=) c.4580-4132A= (n.4580-4132A=) c.4246A= (p.Ile1416=) c.3761-4132A= (n.3761-4132A=) c.3697A= (p.Ile1233=) c.5611A= (p.Ile1871=) c.5335A= (p.Ile1779=) | |
9 | g.115046474T>A | CA374630735 | TNC | c.318-4133A>T c.3215-4133A>T (n.3215-4133A>T) c.3972A>T (p.Glu1324Asp) c.2004A>T (p.Glu668Asp) c.660A>T (p.Glu220Asp) c.4019A>T c.5061A>T (p.Glu1687Asp) c.4515A>T (p.Glu1505Asp) c.4307-4133A>T (n.4307-4133A>T) n.379A>T n.253-4133A>T n.40-4133A>T c.748A>T c.4788A>T (p.Glu1596Asp) c.4034-4133A>T (n.4034-4133A>T) c.3423A>T (p.Glu1141Asp) c.5337A>T (p.Glu1779Asp) c.3488-4133A>T (n.3488-4133A>T) c.5064A>T (p.Glu1688Asp) c.4518A>T (p.Glu1506Asp) c.4580-4133A>T (n.4580-4133A>T) c.4245A>T (p.Glu1415Asp) c.3761-4133A>T (n.3761-4133A>T) c.3696A>T (p.Glu1232Asp) c.5610A>T (p.Glu1870Asp) c.5334A>T (p.Glu1778Asp) | |
9 | g.115046474T>C | CA466912380 | TNC | c.318-4133A>G c.3215-4133A>G (n.3215-4133A>G) c.3972A>G (p.Glu1324=) c.2004A>G (p.Glu668=) c.660A>G (p.Glu220=) c.4019A>G c.5061A>G (p.Glu1687=) c.4515A>G (p.Glu1505=) c.4307-4133A>G (n.4307-4133A>G) n.379A>G n.253-4133A>G n.40-4133A>G c.748A>G c.4788A>G (p.Glu1596=) c.4034-4133A>G (n.4034-4133A>G) c.3423A>G (p.Glu1141=) c.5337A>G (p.Glu1779=) c.3488-4133A>G (n.3488-4133A>G) c.5064A>G (p.Glu1688=) c.4518A>G (p.Glu1506=) c.4580-4133A>G (n.4580-4133A>G) c.4245A>G (p.Glu1415=) c.3761-4133A>G (n.3761-4133A>G) c.3696A>G (p.Glu1232=) c.5610A>G (p.Glu1870=) c.5334A>G (p.Glu1778=) | |
9 | g.115046474T>G | CA374630733 | TNC | c.318-4133A>C c.3215-4133A>C (n.3215-4133A>C) c.3972A>C (p.Glu1324Asp) c.2004A>C (p.Glu668Asp) c.660A>C (p.Glu220Asp) c.4019A>C c.5061A>C (p.Glu1687Asp) c.4515A>C (p.Glu1505Asp) c.4307-4133A>C (n.4307-4133A>C) n.379A>C n.253-4133A>C n.40-4133A>C c.748A>C c.4788A>C (p.Glu1596Asp) c.4034-4133A>C (n.4034-4133A>C) c.3423A>C (p.Glu1141Asp) c.5337A>C (p.Glu1779Asp) c.3488-4133A>C (n.3488-4133A>C) c.5064A>C (p.Glu1688Asp) c.4518A>C (p.Glu1506Asp) c.4580-4133A>C (n.4580-4133A>C) c.4245A>C (p.Glu1415Asp) c.3761-4133A>C (n.3761-4133A>C) c.3696A>C (p.Glu1232Asp) c.5610A>C (p.Glu1870Asp) c.5334A>C (p.Glu1778Asp) | |
9 | g.115046475T>A | CA374630736 | TNC | c.318-4134A>T c.3215-4134A>T (n.3215-4134A>T) c.3971A>T (p.Glu1324Val) c.2003A>T (p.Glu668Val) c.659A>T (p.Glu220Val) c.4018A>T c.5060A>T (p.Glu1687Val) c.4514A>T (p.Glu1505Val) c.4307-4134A>T (n.4307-4134A>T) n.378A>T n.253-4134A>T n.40-4134A>T c.747A>T c.4787A>T (p.Glu1596Val) c.4034-4134A>T (n.4034-4134A>T) c.3422A>T (p.Glu1141Val) c.5336A>T (p.Glu1779Val) c.3488-4134A>T (n.3488-4134A>T) c.5063A>T (p.Glu1688Val) c.4517A>T (p.Glu1506Val) c.4580-4134A>T (n.4580-4134A>T) c.4244A>T (p.Glu1415Val) c.3761-4134A>T (n.3761-4134A>T) c.3695A>T (p.Glu1232Val) c.5609A>T (p.Glu1870Val) c.5333A>T (p.Glu1778Val) | |
9 | g.115046475T>C | CA374630739 | TNC | c.318-4134A>G c.3215-4134A>G (n.3215-4134A>G) c.3971A>G (p.Glu1324Gly) c.2003A>G (p.Glu668Gly) c.659A>G (p.Glu220Gly) c.4018A>G c.5060A>G (p.Glu1687Gly) c.4514A>G (p.Glu1505Gly) c.4307-4134A>G (n.4307-4134A>G) n.378A>G n.253-4134A>G n.40-4134A>G c.747A>G c.4787A>G (p.Glu1596Gly) c.4034-4134A>G (n.4034-4134A>G) c.3422A>G (p.Glu1141Gly) c.5336A>G (p.Glu1779Gly) c.3488-4134A>G (n.3488-4134A>G) c.5063A>G (p.Glu1688Gly) c.4517A>G (p.Glu1506Gly) c.4580-4134A>G (n.4580-4134A>G) c.4244A>G (p.Glu1415Gly) c.3761-4134A>G (n.3761-4134A>G) c.3695A>G (p.Glu1232Gly) c.5609A>G (p.Glu1870Gly) c.5333A>G (p.Glu1778Gly) | |
9 | g.115046475T>G | CA374630740 | TNC | c.318-4134A>C c.3215-4134A>C (n.3215-4134A>C) c.3971A>C (p.Glu1324Ala) c.2003A>C (p.Glu668Ala) c.659A>C (p.Glu220Ala) c.4018A>C c.5060A>C (p.Glu1687Ala) c.4514A>C (p.Glu1505Ala) c.4307-4134A>C (n.4307-4134A>C) n.378A>C n.253-4134A>C n.40-4134A>C c.747A>C c.4787A>C (p.Glu1596Ala) c.4034-4134A>C (n.4034-4134A>C) c.3422A>C (p.Glu1141Ala) c.5336A>C (p.Glu1779Ala) c.3488-4134A>C (n.3488-4134A>C) c.5063A>C (p.Glu1688Ala) c.4517A>C (p.Glu1506Ala) c.4580-4134A>C (n.4580-4134A>C) c.4244A>C (p.Glu1415Ala) c.3761-4134A>C (n.3761-4134A>C) c.3695A>C (p.Glu1232Ala) c.5609A>C (p.Glu1870Ala) c.5333A>C (p.Glu1778Ala) | |
9 | g.115046476C>A | CA374630742 | TNC | c.318-4135G>T c.3215-4135G>T (n.3215-4135G>T) c.3970G>T (p.Glu1324Ter) c.2002G>T (p.Glu668Ter) c.658G>T (p.Glu220Ter) c.4017G>T c.5059G>T (p.Glu1687Ter) c.4513G>T (p.Glu1505Ter) c.4307-4135G>T (n.4307-4135G>T) n.377G>T n.253-4135G>T n.40-4135G>T c.746G>T c.4786G>T (p.Glu1596Ter) c.4034-4135G>T (n.4034-4135G>T) c.3421G>T (p.Glu1141Ter) c.5335G>T (p.Glu1779Ter) c.3488-4135G>T (n.3488-4135G>T) c.5062G>T (p.Glu1688Ter) c.4516G>T (p.Glu1506Ter) c.4580-4135G>T (n.4580-4135G>T) c.4243G>T (p.Glu1415Ter) c.3761-4135G>T (n.3761-4135G>T) c.3694G>T (p.Glu1232Ter) c.5608G>T (p.Glu1870Ter) c.5332G>T (p.Glu1778Ter) | gnomAD v4 |
9 | g.115046476C>G | CA374630744 | TNC | c.318-4135G>C c.3215-4135G>C (n.3215-4135G>C) c.3970G>C (p.Glu1324Gln) c.2002G>C (p.Glu668Gln) c.658G>C (p.Glu220Gln) c.4017G>C c.5059G>C (p.Glu1687Gln) c.4513G>C (p.Glu1505Gln) c.4307-4135G>C (n.4307-4135G>C) n.377G>C n.253-4135G>C n.40-4135G>C c.746G>C c.4786G>C (p.Glu1596Gln) c.4034-4135G>C (n.4034-4135G>C) c.3421G>C (p.Glu1141Gln) c.5335G>C (p.Glu1779Gln) c.3488-4135G>C (n.3488-4135G>C) c.5062G>C (p.Glu1688Gln) c.4516G>C (p.Glu1506Gln) c.4580-4135G>C (n.4580-4135G>C) c.4243G>C (p.Glu1415Gln) c.3761-4135G>C (n.3761-4135G>C) c.3694G>C (p.Glu1232Gln) c.5608G>C (p.Glu1870Gln) c.5332G>C (p.Glu1778Gln) | |
9 | g.115046476C>T | CA374630746 | TNC | c.318-4135G>A c.3215-4135G>A (n.3215-4135G>A) c.3970G>A (p.Glu1324Lys) c.2002G>A (p.Glu668Lys) c.658G>A (p.Glu220Lys) c.4017G>A c.5059G>A (p.Glu1687Lys) c.4513G>A (p.Glu1505Lys) c.4307-4135G>A (n.4307-4135G>A) n.377G>A n.253-4135G>A n.40-4135G>A c.746G>A c.4786G>A (p.Glu1596Lys) c.4034-4135G>A (n.4034-4135G>A) c.3421G>A (p.Glu1141Lys) c.5335G>A (p.Glu1779Lys) c.3488-4135G>A (n.3488-4135G>A) c.5062G>A (p.Glu1688Lys) c.4516G>A (p.Glu1506Lys) c.4580-4135G>A (n.4580-4135G>A) c.4243G>A (p.Glu1415Lys) c.3761-4135G>A (n.3761-4135G>A) c.3694G>A (p.Glu1232Lys) c.5608G>A (p.Glu1870Lys) c.5332G>A (p.Glu1778Lys) | gnomAD v4 COSMIC |
9 | g.115046477G>A | CA466912383 | TNC | c.318-4136C>T c.3215-4136C>T (n.3215-4136C>T) c.3969C>T (p.Tyr1323=) c.2001C>T (p.Tyr667=) c.657C>T (p.Tyr219=) c.4016C>T c.5058C>T (p.Tyr1686=) c.4512C>T (p.Tyr1504=) c.4307-4136C>T (n.4307-4136C>T) n.376C>T n.253-4136C>T n.40-4136C>T c.745C>T c.4785C>T (p.Tyr1595=) c.4034-4136C>T (n.4034-4136C>T) c.3420C>T (p.Tyr1140=) c.5334C>T (p.Tyr1778=) c.3488-4136C>T (n.3488-4136C>T) c.5061C>T (p.Tyr1687=) c.4515C>T (p.Tyr1505=) c.4580-4136C>T (n.4580-4136C>T) c.4242C>T (p.Tyr1414=) c.3761-4136C>T (n.3761-4136C>T) c.3693C>T (p.Tyr1231=) c.5607C>T (p.Tyr1869=) c.5331C>T (p.Tyr1777=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046477G>C | CA374630748 | TNC | c.318-4136C>G c.3215-4136C>G (n.3215-4136C>G) c.3969C>G (p.Tyr1323Ter) c.2001C>G (p.Tyr667Ter) c.657C>G (p.Tyr219Ter) c.4016C>G c.5058C>G (p.Tyr1686Ter) c.4512C>G (p.Tyr1504Ter) c.4307-4136C>G (n.4307-4136C>G) n.376C>G n.253-4136C>G n.40-4136C>G c.745C>G c.4785C>G (p.Tyr1595Ter) c.4034-4136C>G (n.4034-4136C>G) c.3420C>G (p.Tyr1140Ter) c.5334C>G (p.Tyr1778Ter) c.3488-4136C>G (n.3488-4136C>G) c.5061C>G (p.Tyr1687Ter) c.4515C>G (p.Tyr1505Ter) c.4580-4136C>G (n.4580-4136C>G) c.4242C>G (p.Tyr1414Ter) c.3761-4136C>G (n.3761-4136C>G) c.3693C>G (p.Tyr1231Ter) c.5607C>G (p.Tyr1869Ter) c.5331C>G (p.Tyr1777Ter) | |
9 | g.115046477G= | CA1874118883 | TNC | c.318-4136C= c.3215-4136C= (n.3215-4136C=) c.3969C= (p.Tyr1323=) c.2001C= (p.Tyr667=) c.657C= (p.Tyr219=) c.4016C= c.5058C= (p.Tyr1686=) c.4512C= (p.Tyr1504=) c.4307-4136C= (n.4307-4136C=) n.376C= n.253-4136C= n.40-4136C= c.745C= c.4785C= (p.Tyr1595=) c.4034-4136C= (n.4034-4136C=) c.3420C= (p.Tyr1140=) c.5334C= (p.Tyr1778=) c.3488-4136C= (n.3488-4136C=) c.5061C= (p.Tyr1687=) c.4515C= (p.Tyr1505=) c.4580-4136C= (n.4580-4136C=) c.4242C= (p.Tyr1414=) c.3761-4136C= (n.3761-4136C=) c.3693C= (p.Tyr1231=) c.5607C= (p.Tyr1869=) c.5331C= (p.Tyr1777=) | |
9 | g.115046477G>T | CA374630749 | TNC | c.318-4136C>A c.3215-4136C>A (n.3215-4136C>A) c.3969C>A (p.Tyr1323Ter) c.2001C>A (p.Tyr667Ter) c.657C>A (p.Tyr219Ter) c.4016C>A c.5058C>A (p.Tyr1686Ter) c.4512C>A (p.Tyr1504Ter) c.4307-4136C>A (n.4307-4136C>A) n.376C>A n.253-4136C>A n.40-4136C>A c.745C>A c.4785C>A (p.Tyr1595Ter) c.4034-4136C>A (n.4034-4136C>A) c.3420C>A (p.Tyr1140Ter) c.5334C>A (p.Tyr1778Ter) c.3488-4136C>A (n.3488-4136C>A) c.5061C>A (p.Tyr1687Ter) c.4515C>A (p.Tyr1505Ter) c.4580-4136C>A (n.4580-4136C>A) c.4242C>A (p.Tyr1414Ter) c.3761-4136C>A (n.3761-4136C>A) c.3693C>A (p.Tyr1231Ter) c.5607C>A (p.Tyr1869Ter) c.5331C>A (p.Tyr1777Ter) | dbSNP |
9 | g.115046478T>A | CA374630751 | TNC | c.318-4137A>T c.3215-4137A>T (n.3215-4137A>T) c.3968A>T (p.Tyr1323Phe) c.2000A>T (p.Tyr667Phe) c.656A>T (p.Tyr219Phe) c.4015A>T c.5057A>T (p.Tyr1686Phe) c.4511A>T (p.Tyr1504Phe) c.4307-4137A>T (n.4307-4137A>T) n.375A>T n.253-4137A>T n.40-4137A>T c.744A>T c.4784A>T (p.Tyr1595Phe) c.4034-4137A>T (n.4034-4137A>T) c.3419A>T (p.Tyr1140Phe) c.5333A>T (p.Tyr1778Phe) c.3488-4137A>T (n.3488-4137A>T) c.5060A>T (p.Tyr1687Phe) c.4514A>T (p.Tyr1505Phe) c.4580-4137A>T (n.4580-4137A>T) c.4241A>T (p.Tyr1414Phe) c.3761-4137A>T (n.3761-4137A>T) c.3692A>T (p.Tyr1231Phe) c.5606A>T (p.Tyr1869Phe) c.5330A>T (p.Tyr1777Phe) | COSMIC |
9 | g.115046478T>C | CA374630753 | TNC | c.318-4137A>G c.3215-4137A>G (n.3215-4137A>G) c.3968A>G (p.Tyr1323Cys) c.2000A>G (p.Tyr667Cys) c.656A>G (p.Tyr219Cys) c.4015A>G c.5057A>G (p.Tyr1686Cys) c.4511A>G (p.Tyr1504Cys) c.4307-4137A>G (n.4307-4137A>G) n.375A>G n.253-4137A>G n.40-4137A>G c.744A>G c.4784A>G (p.Tyr1595Cys) c.4034-4137A>G (n.4034-4137A>G) c.3419A>G (p.Tyr1140Cys) c.5333A>G (p.Tyr1778Cys) c.3488-4137A>G (n.3488-4137A>G) c.5060A>G (p.Tyr1687Cys) c.4514A>G (p.Tyr1505Cys) c.4580-4137A>G (n.4580-4137A>G) c.4241A>G (p.Tyr1414Cys) c.3761-4137A>G (n.3761-4137A>G) c.3692A>G (p.Tyr1231Cys) c.5606A>G (p.Tyr1869Cys) c.5330A>G (p.Tyr1777Cys) | |
9 | g.115046478T>G | CA374630755 | TNC | c.318-4137A>C c.3215-4137A>C (n.3215-4137A>C) c.3968A>C (p.Tyr1323Ser) c.2000A>C (p.Tyr667Ser) c.656A>C (p.Tyr219Ser) c.4015A>C c.5057A>C (p.Tyr1686Ser) c.4511A>C (p.Tyr1504Ser) c.4307-4137A>C (n.4307-4137A>C) n.375A>C n.253-4137A>C n.40-4137A>C c.744A>C c.4784A>C (p.Tyr1595Ser) c.4034-4137A>C (n.4034-4137A>C) c.3419A>C (p.Tyr1140Ser) c.5333A>C (p.Tyr1778Ser) c.3488-4137A>C (n.3488-4137A>C) c.5060A>C (p.Tyr1687Ser) c.4514A>C (p.Tyr1505Ser) c.4580-4137A>C (n.4580-4137A>C) c.4241A>C (p.Tyr1414Ser) c.3761-4137A>C (n.3761-4137A>C) c.3692A>C (p.Tyr1231Ser) c.5606A>C (p.Tyr1869Ser) c.5330A>C (p.Tyr1777Ser) | |
9 | g.115046479A>C | CA374630757 | TNC | c.318-4138T>G c.3215-4138T>G (n.3215-4138T>G) c.3967T>G (p.Tyr1323Asp) c.1999T>G (p.Tyr667Asp) c.655T>G (p.Tyr219Asp) c.4014T>G c.5056T>G (p.Tyr1686Asp) c.4510T>G (p.Tyr1504Asp) c.4307-4138T>G (n.4307-4138T>G) n.374T>G n.253-4138T>G n.40-4138T>G c.743T>G c.4783T>G (p.Tyr1595Asp) c.4034-4138T>G (n.4034-4138T>G) c.3418T>G (p.Tyr1140Asp) c.5332T>G (p.Tyr1778Asp) c.3488-4138T>G (n.3488-4138T>G) c.5059T>G (p.Tyr1687Asp) c.4513T>G (p.Tyr1505Asp) c.4580-4138T>G (n.4580-4138T>G) c.4240T>G (p.Tyr1414Asp) c.3761-4138T>G (n.3761-4138T>G) c.3691T>G (p.Tyr1231Asp) c.5605T>G (p.Tyr1869Asp) c.5329T>G (p.Tyr1777Asp) | |
9 | g.115046479A>G | CA374630759 | TNC | c.318-4138T>C c.3215-4138T>C (n.3215-4138T>C) c.3967T>C (p.Tyr1323His) c.1999T>C (p.Tyr667His) c.655T>C (p.Tyr219His) c.4014T>C c.5056T>C (p.Tyr1686His) c.4510T>C (p.Tyr1504His) c.4307-4138T>C (n.4307-4138T>C) n.374T>C n.253-4138T>C n.40-4138T>C c.743T>C c.4783T>C (p.Tyr1595His) c.4034-4138T>C (n.4034-4138T>C) c.3418T>C (p.Tyr1140His) c.5332T>C (p.Tyr1778His) c.3488-4138T>C (n.3488-4138T>C) c.5059T>C (p.Tyr1687His) c.4513T>C (p.Tyr1505His) c.4580-4138T>C (n.4580-4138T>C) c.4240T>C (p.Tyr1414His) c.3761-4138T>C (n.3761-4138T>C) c.3691T>C (p.Tyr1231His) c.5605T>C (p.Tyr1869His) c.5329T>C (p.Tyr1777His) | |
9 | g.115046479A>T | CA374630761 | TNC | c.318-4138T>A c.3215-4138T>A (n.3215-4138T>A) c.3967T>A (p.Tyr1323Asn) c.1999T>A (p.Tyr667Asn) c.655T>A (p.Tyr219Asn) c.4014T>A c.5056T>A (p.Tyr1686Asn) c.4510T>A (p.Tyr1504Asn) c.4307-4138T>A (n.4307-4138T>A) n.374T>A n.253-4138T>A n.40-4138T>A c.743T>A c.4783T>A (p.Tyr1595Asn) c.4034-4138T>A (n.4034-4138T>A) c.3418T>A (p.Tyr1140Asn) c.5332T>A (p.Tyr1778Asn) c.3488-4138T>A (n.3488-4138T>A) c.5059T>A (p.Tyr1687Asn) c.4513T>A (p.Tyr1505Asn) c.4580-4138T>A (n.4580-4138T>A) c.4240T>A (p.Tyr1414Asn) c.3761-4138T>A (n.3761-4138T>A) c.3691T>A (p.Tyr1231Asn) c.5605T>A (p.Tyr1869Asn) c.5329T>A (p.Tyr1777Asn) | |
9 | g.115046480T>A | CA374630763 | TNC | c.318-4139A>T c.3215-4139A>T (n.3215-4139A>T) c.3966A>T (p.Glu1322Asp) c.1998A>T (p.Glu666Asp) c.654A>T (p.Glu218Asp) c.4013A>T c.5055A>T (p.Glu1685Asp) c.4509A>T (p.Glu1503Asp) c.4307-4139A>T (n.4307-4139A>T) n.373A>T n.253-4139A>T n.40-4139A>T c.742A>T c.4782A>T (p.Glu1594Asp) c.4034-4139A>T (n.4034-4139A>T) c.3417A>T (p.Glu1139Asp) c.5331A>T (p.Glu1777Asp) c.3488-4139A>T (n.3488-4139A>T) c.5058A>T (p.Glu1686Asp) c.4512A>T (p.Glu1504Asp) c.4580-4139A>T (n.4580-4139A>T) c.4239A>T (p.Glu1413Asp) c.3761-4139A>T (n.3761-4139A>T) c.3690A>T (p.Glu1230Asp) c.5604A>T (p.Glu1868Asp) c.5328A>T (p.Glu1776Asp) | |
9 | g.115046480T>C | CA466912386 | TNC | c.318-4139A>G c.3215-4139A>G (n.3215-4139A>G) c.3966A>G (p.Glu1322=) c.1998A>G (p.Glu666=) c.654A>G (p.Glu218=) c.4013A>G c.5055A>G (p.Glu1685=) c.4509A>G (p.Glu1503=) c.4307-4139A>G (n.4307-4139A>G) n.373A>G n.253-4139A>G n.40-4139A>G c.742A>G c.4782A>G (p.Glu1594=) c.4034-4139A>G (n.4034-4139A>G) c.3417A>G (p.Glu1139=) c.5331A>G (p.Glu1777=) c.3488-4139A>G (n.3488-4139A>G) c.5058A>G (p.Glu1686=) c.4512A>G (p.Glu1504=) c.4580-4139A>G (n.4580-4139A>G) c.4239A>G (p.Glu1413=) c.3761-4139A>G (n.3761-4139A>G) c.3690A>G (p.Glu1230=) c.5604A>G (p.Glu1868=) c.5328A>G (p.Glu1776=) | |
9 | g.115046480T>G | CA374630764 | TNC | c.318-4139A>C c.3215-4139A>C (n.3215-4139A>C) c.3966A>C (p.Glu1322Asp) c.1998A>C (p.Glu666Asp) c.654A>C (p.Glu218Asp) c.4013A>C c.5055A>C (p.Glu1685Asp) c.4509A>C (p.Glu1503Asp) c.4307-4139A>C (n.4307-4139A>C) n.373A>C n.253-4139A>C n.40-4139A>C c.742A>C c.4782A>C (p.Glu1594Asp) c.4034-4139A>C (n.4034-4139A>C) c.3417A>C (p.Glu1139Asp) c.5331A>C (p.Glu1777Asp) c.3488-4139A>C (n.3488-4139A>C) c.5058A>C (p.Glu1686Asp) c.4512A>C (p.Glu1504Asp) c.4580-4139A>C (n.4580-4139A>C) c.4239A>C (p.Glu1413Asp) c.3761-4139A>C (n.3761-4139A>C) c.3690A>C (p.Glu1230Asp) c.5604A>C (p.Glu1868Asp) c.5328A>C (p.Glu1776Asp) | |
9 | g.115046481T>A | CA374630766 | TNC | c.318-4140A>T c.3215-4140A>T (n.3215-4140A>T) c.3965A>T (p.Glu1322Val) c.1997A>T (p.Glu666Val) c.653A>T (p.Glu218Val) c.4012A>T c.5054A>T (p.Glu1685Val) c.4508A>T (p.Glu1503Val) c.4307-4140A>T (n.4307-4140A>T) n.372A>T n.253-4140A>T n.40-4140A>T c.741A>T c.4781A>T (p.Glu1594Val) c.4034-4140A>T (n.4034-4140A>T) c.3416A>T (p.Glu1139Val) c.5330A>T (p.Glu1777Val) c.3488-4140A>T (n.3488-4140A>T) c.5057A>T (p.Glu1686Val) c.4511A>T (p.Glu1504Val) c.4580-4140A>T (n.4580-4140A>T) c.4238A>T (p.Glu1413Val) c.3761-4140A>T (n.3761-4140A>T) c.3689A>T (p.Glu1230Val) c.5603A>T (p.Glu1868Val) c.5327A>T (p.Glu1776Val) | |
9 | g.115046481T>C | CA374630769 | TNC | c.318-4140A>G c.3215-4140A>G (n.3215-4140A>G) c.3965A>G (p.Glu1322Gly) c.1997A>G (p.Glu666Gly) c.653A>G (p.Glu218Gly) c.4012A>G c.5054A>G (p.Glu1685Gly) c.4508A>G (p.Glu1503Gly) c.4307-4140A>G (n.4307-4140A>G) n.372A>G n.253-4140A>G n.40-4140A>G c.741A>G c.4781A>G (p.Glu1594Gly) c.4034-4140A>G (n.4034-4140A>G) c.3416A>G (p.Glu1139Gly) c.5330A>G (p.Glu1777Gly) c.3488-4140A>G (n.3488-4140A>G) c.5057A>G (p.Glu1686Gly) c.4511A>G (p.Glu1504Gly) c.4580-4140A>G (n.4580-4140A>G) c.4238A>G (p.Glu1413Gly) c.3761-4140A>G (n.3761-4140A>G) c.3689A>G (p.Glu1230Gly) c.5603A>G (p.Glu1868Gly) c.5327A>G (p.Glu1776Gly) | |
9 | g.115046481T>G | CA374630770 | TNC | c.318-4140A>C c.3215-4140A>C (n.3215-4140A>C) c.3965A>C (p.Glu1322Ala) c.1997A>C (p.Glu666Ala) c.653A>C (p.Glu218Ala) c.4012A>C c.5054A>C (p.Glu1685Ala) c.4508A>C (p.Glu1503Ala) c.4307-4140A>C (n.4307-4140A>C) n.372A>C n.253-4140A>C n.40-4140A>C c.741A>C c.4781A>C (p.Glu1594Ala) c.4034-4140A>C (n.4034-4140A>C) c.3416A>C (p.Glu1139Ala) c.5330A>C (p.Glu1777Ala) c.3488-4140A>C (n.3488-4140A>C) c.5057A>C (p.Glu1686Ala) c.4511A>C (p.Glu1504Ala) c.4580-4140A>C (n.4580-4140A>C) c.4238A>C (p.Glu1413Ala) c.3761-4140A>C (n.3761-4140A>C) c.3689A>C (p.Glu1230Ala) c.5603A>C (p.Glu1868Ala) c.5327A>C (p.Glu1776Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046481T= | CA1874118884 | TNC | c.318-4140A= c.3215-4140A= (n.3215-4140A=) c.3965A= (p.Glu1322=) c.1997A= (p.Glu666=) c.653A= (p.Glu218=) c.4012A= c.5054A= (p.Glu1685=) c.4508A= (p.Glu1503=) c.4307-4140A= (n.4307-4140A=) n.372A= n.253-4140A= n.40-4140A= c.741A= c.4781A= (p.Glu1594=) c.4034-4140A= (n.4034-4140A=) c.3416A= (p.Glu1139=) c.5330A= (p.Glu1777=) c.3488-4140A= (n.3488-4140A=) c.5057A= (p.Glu1686=) c.4511A= (p.Glu1504=) c.4580-4140A= (n.4580-4140A=) c.4238A= (p.Glu1413=) c.3761-4140A= (n.3761-4140A=) c.3689A= (p.Glu1230=) c.5603A= (p.Glu1868=) c.5327A= (p.Glu1776=) | |
9 | g.115046482C>A | CA374630773 | TNC | c.318-4141G>T c.3215-4141G>T (n.3215-4141G>T) c.3964G>T (p.Glu1322Ter) c.1996G>T (p.Glu666Ter) c.652G>T (p.Glu218Ter) c.4011G>T c.5053G>T (p.Glu1685Ter) c.4507G>T (p.Glu1503Ter) c.4307-4141G>T (n.4307-4141G>T) n.371G>T n.253-4141G>T n.40-4141G>T c.740G>T c.4780G>T (p.Glu1594Ter) c.4034-4141G>T (n.4034-4141G>T) c.3415G>T (p.Glu1139Ter) c.5329G>T (p.Glu1777Ter) c.3488-4141G>T (n.3488-4141G>T) c.5056G>T (p.Glu1686Ter) c.4510G>T (p.Glu1504Ter) c.4580-4141G>T (n.4580-4141G>T) c.4237G>T (p.Glu1413Ter) c.3761-4141G>T (n.3761-4141G>T) c.3688G>T (p.Glu1230Ter) c.5602G>T (p.Glu1868Ter) c.5326G>T (p.Glu1776Ter) | COSMIC |
9 | g.115046482C>G | CA374630775 | TNC | c.318-4141G>C c.3215-4141G>C (n.3215-4141G>C) c.3964G>C (p.Glu1322Gln) c.1996G>C (p.Glu666Gln) c.652G>C (p.Glu218Gln) c.4011G>C c.5053G>C (p.Glu1685Gln) c.4507G>C (p.Glu1503Gln) c.4307-4141G>C (n.4307-4141G>C) n.371G>C n.253-4141G>C n.40-4141G>C c.740G>C c.4780G>C (p.Glu1594Gln) c.4034-4141G>C (n.4034-4141G>C) c.3415G>C (p.Glu1139Gln) c.5329G>C (p.Glu1777Gln) c.3488-4141G>C (n.3488-4141G>C) c.5056G>C (p.Glu1686Gln) c.4510G>C (p.Glu1504Gln) c.4580-4141G>C (n.4580-4141G>C) c.4237G>C (p.Glu1413Gln) c.3761-4141G>C (n.3761-4141G>C) c.3688G>C (p.Glu1230Gln) c.5602G>C (p.Glu1868Gln) c.5326G>C (p.Glu1776Gln) | |
9 | g.115046482C>T | CA374630777 | TNC | c.318-4141G>A c.3215-4141G>A (n.3215-4141G>A) c.3964G>A (p.Glu1322Lys) c.1996G>A (p.Glu666Lys) c.652G>A (p.Glu218Lys) c.4011G>A c.5053G>A (p.Glu1685Lys) c.4507G>A (p.Glu1503Lys) c.4307-4141G>A (n.4307-4141G>A) n.371G>A n.253-4141G>A n.40-4141G>A c.740G>A c.4780G>A (p.Glu1594Lys) c.4034-4141G>A (n.4034-4141G>A) c.3415G>A (p.Glu1139Lys) c.5329G>A (p.Glu1777Lys) c.3488-4141G>A (n.3488-4141G>A) c.5056G>A (p.Glu1686Lys) c.4510G>A (p.Glu1504Lys) c.4580-4141G>A (n.4580-4141G>A) c.4237G>A (p.Glu1413Lys) c.3761-4141G>A (n.3761-4141G>A) c.3688G>A (p.Glu1230Lys) c.5602G>A (p.Glu1868Lys) c.5326G>A (p.Glu1776Lys) | COSMIC |
9 | g.115046483A>C | CA466912391 | TNC | c.318-4142T>G c.3215-4142T>G (n.3215-4142T>G) c.3963T>G (p.Thr1321=) c.1995T>G (p.Thr665=) c.651T>G (p.Thr217=) c.4010T>G c.5052T>G (p.Thr1684=) c.4506T>G (p.Thr1502=) c.4307-4142T>G (n.4307-4142T>G) n.370T>G n.253-4142T>G n.40-4142T>G c.739T>G c.4779T>G (p.Thr1593=) c.4034-4142T>G (n.4034-4142T>G) c.3414T>G (p.Thr1138=) c.5328T>G (p.Thr1776=) c.3488-4142T>G (n.3488-4142T>G) c.5055T>G (p.Thr1685=) c.4509T>G (p.Thr1503=) c.4580-4142T>G (n.4580-4142T>G) c.4236T>G (p.Thr1412=) c.3761-4142T>G (n.3761-4142T>G) c.3687T>G (p.Thr1229=) c.5601T>G (p.Thr1867=) c.5325T>G (p.Thr1775=) | |
9 | g.115046483A>G | CA466912390 | TNC | c.318-4142T>C c.3215-4142T>C (n.3215-4142T>C) c.3963T>C (p.Thr1321=) c.1995T>C (p.Thr665=) c.651T>C (p.Thr217=) c.4010T>C c.5052T>C (p.Thr1684=) c.4506T>C (p.Thr1502=) c.4307-4142T>C (n.4307-4142T>C) n.370T>C n.253-4142T>C n.40-4142T>C c.739T>C c.4779T>C (p.Thr1593=) c.4034-4142T>C (n.4034-4142T>C) c.3414T>C (p.Thr1138=) c.5328T>C (p.Thr1776=) c.3488-4142T>C (n.3488-4142T>C) c.5055T>C (p.Thr1685=) c.4509T>C (p.Thr1503=) c.4580-4142T>C (n.4580-4142T>C) c.4236T>C (p.Thr1412=) c.3761-4142T>C (n.3761-4142T>C) c.3687T>C (p.Thr1229=) c.5601T>C (p.Thr1867=) c.5325T>C (p.Thr1775=) | |
9 | g.115046483A>T | CA466912389 | TNC | c.318-4142T>A c.3215-4142T>A (n.3215-4142T>A) c.3963T>A (p.Thr1321=) c.1995T>A (p.Thr665=) c.651T>A (p.Thr217=) c.4010T>A c.5052T>A (p.Thr1684=) c.4506T>A (p.Thr1502=) c.4307-4142T>A (n.4307-4142T>A) n.370T>A n.253-4142T>A n.40-4142T>A c.739T>A c.4779T>A (p.Thr1593=) c.4034-4142T>A (n.4034-4142T>A) c.3414T>A (p.Thr1138=) c.5328T>A (p.Thr1776=) c.3488-4142T>A (n.3488-4142T>A) c.5055T>A (p.Thr1685=) c.4509T>A (p.Thr1503=) c.4580-4142T>A (n.4580-4142T>A) c.4236T>A (p.Thr1412=) c.3761-4142T>A (n.3761-4142T>A) c.3687T>A (p.Thr1229=) c.5601T>A (p.Thr1867=) c.5325T>A (p.Thr1775=) | |
9 | g.115046484G>A | CA374630779 | TNC | c.318-4143C>T c.3215-4143C>T (n.3215-4143C>T) c.3962C>T (p.Thr1321Ile) c.1994C>T (p.Thr665Ile) c.650C>T (p.Thr217Ile) c.4009C>T c.5051C>T (p.Thr1684Ile) c.4505C>T (p.Thr1502Ile) c.4307-4143C>T (n.4307-4143C>T) n.369C>T n.253-4143C>T n.40-4143C>T c.738C>T c.4778C>T (p.Thr1593Ile) c.4034-4143C>T (n.4034-4143C>T) c.3413C>T (p.Thr1138Ile) c.5327C>T (p.Thr1776Ile) c.3488-4143C>T (n.3488-4143C>T) c.5054C>T (p.Thr1685Ile) c.4508C>T (p.Thr1503Ile) c.4580-4143C>T (n.4580-4143C>T) c.4235C>T (p.Thr1412Ile) c.3761-4143C>T (n.3761-4143C>T) c.3686C>T (p.Thr1229Ile) c.5600C>T (p.Thr1867Ile) c.5324C>T (p.Thr1775Ile) | dbSNP |
9 | g.115046484G>C | CA374630781 | TNC | c.318-4143C>G c.3215-4143C>G (n.3215-4143C>G) c.3962C>G (p.Thr1321Ser) c.1994C>G (p.Thr665Ser) c.650C>G (p.Thr217Ser) c.4009C>G c.5051C>G (p.Thr1684Ser) c.4505C>G (p.Thr1502Ser) c.4307-4143C>G (n.4307-4143C>G) n.369C>G n.253-4143C>G n.40-4143C>G c.738C>G c.4778C>G (p.Thr1593Ser) c.4034-4143C>G (n.4034-4143C>G) c.3413C>G (p.Thr1138Ser) c.5327C>G (p.Thr1776Ser) c.3488-4143C>G (n.3488-4143C>G) c.5054C>G (p.Thr1685Ser) c.4508C>G (p.Thr1503Ser) c.4580-4143C>G (n.4580-4143C>G) c.4235C>G (p.Thr1412Ser) c.3761-4143C>G (n.3761-4143C>G) c.3686C>G (p.Thr1229Ser) c.5600C>G (p.Thr1867Ser) c.5324C>G (p.Thr1775Ser) | |
9 | g.115046484G= | CA1874118885 | TNC | c.318-4143C= c.3215-4143C= (n.3215-4143C=) c.3962C= (p.Thr1321=) c.1994C= (p.Thr665=) c.650C= (p.Thr217=) c.4009C= c.5051C= (p.Thr1684=) c.4505C= (p.Thr1502=) c.4307-4143C= (n.4307-4143C=) n.369C= n.253-4143C= n.40-4143C= c.738C= c.4778C= (p.Thr1593=) c.4034-4143C= (n.4034-4143C=) c.3413C= (p.Thr1138=) c.5327C= (p.Thr1776=) c.3488-4143C= (n.3488-4143C=) c.5054C= (p.Thr1685=) c.4508C= (p.Thr1503=) c.4580-4143C= (n.4580-4143C=) c.4235C= (p.Thr1412=) c.3761-4143C= (n.3761-4143C=) c.3686C= (p.Thr1229=) c.5600C= (p.Thr1867=) c.5324C= (p.Thr1775=) | |
9 | g.115046484G>T | CA5207767 | TNC | c.318-4143C>A c.3215-4143C>A (n.3215-4143C>A) c.3962C>A (p.Thr1321Asn) c.1994C>A (p.Thr665Asn) c.650C>A (p.Thr217Asn) c.4009C>A c.5051C>A (p.Thr1684Asn) c.4505C>A (p.Thr1502Asn) c.4307-4143C>A (n.4307-4143C>A) n.369C>A n.253-4143C>A n.40-4143C>A c.738C>A c.4778C>A (p.Thr1593Asn) c.4034-4143C>A (n.4034-4143C>A) c.3413C>A (p.Thr1138Asn) c.5327C>A (p.Thr1776Asn) c.3488-4143C>A (n.3488-4143C>A) c.5054C>A (p.Thr1685Asn) c.4508C>A (p.Thr1503Asn) c.4580-4143C>A (n.4580-4143C>A) c.4235C>A (p.Thr1412Asn) c.3761-4143C>A (n.3761-4143C>A) c.3686C>A (p.Thr1229Asn) c.5600C>A (p.Thr1867Asn) c.5324C>A (p.Thr1775Asn) | dbSNP ExAC gnomAD v2 |
9 | g.115046485T>A | CA374630784 | TNC | c.318-4144A>T c.3215-4144A>T (n.3215-4144A>T) c.3961A>T (p.Thr1321Ser) c.1993A>T (p.Thr665Ser) c.649A>T (p.Thr217Ser) c.4008A>T c.5050A>T (p.Thr1684Ser) c.4504A>T (p.Thr1502Ser) c.4307-4144A>T (n.4307-4144A>T) n.368A>T n.253-4144A>T n.40-4144A>T c.737A>T c.4777A>T (p.Thr1593Ser) c.4034-4144A>T (n.4034-4144A>T) c.3412A>T (p.Thr1138Ser) c.5326A>T (p.Thr1776Ser) c.3488-4144A>T (n.3488-4144A>T) c.5053A>T (p.Thr1685Ser) c.4507A>T (p.Thr1503Ser) c.4580-4144A>T (n.4580-4144A>T) c.4234A>T (p.Thr1412Ser) c.3761-4144A>T (n.3761-4144A>T) c.3685A>T (p.Thr1229Ser) c.5599A>T (p.Thr1867Ser) c.5323A>T (p.Thr1775Ser) | |
9 | g.115046485T>C | CA374630786 | TNC | c.318-4144A>G c.3215-4144A>G (n.3215-4144A>G) c.3961A>G (p.Thr1321Ala) c.1993A>G (p.Thr665Ala) c.649A>G (p.Thr217Ala) c.4008A>G c.5050A>G (p.Thr1684Ala) c.4504A>G (p.Thr1502Ala) c.4307-4144A>G (n.4307-4144A>G) n.368A>G n.253-4144A>G n.40-4144A>G c.737A>G c.4777A>G (p.Thr1593Ala) c.4034-4144A>G (n.4034-4144A>G) c.3412A>G (p.Thr1138Ala) c.5326A>G (p.Thr1776Ala) c.3488-4144A>G (n.3488-4144A>G) c.5053A>G (p.Thr1685Ala) c.4507A>G (p.Thr1503Ala) c.4580-4144A>G (n.4580-4144A>G) c.4234A>G (p.Thr1412Ala) c.3761-4144A>G (n.3761-4144A>G) c.3685A>G (p.Thr1229Ala) c.5599A>G (p.Thr1867Ala) c.5323A>G (p.Thr1775Ala) | gnomAD v4 |
9 | g.115046485T>G | CA374630788 | TNC | c.318-4144A>C c.3215-4144A>C (n.3215-4144A>C) c.3961A>C (p.Thr1321Pro) c.1993A>C (p.Thr665Pro) c.649A>C (p.Thr217Pro) c.4008A>C c.5050A>C (p.Thr1684Pro) c.4504A>C (p.Thr1502Pro) c.4307-4144A>C (n.4307-4144A>C) n.368A>C n.253-4144A>C n.40-4144A>C c.737A>C c.4777A>C (p.Thr1593Pro) c.4034-4144A>C (n.4034-4144A>C) c.3412A>C (p.Thr1138Pro) c.5326A>C (p.Thr1776Pro) c.3488-4144A>C (n.3488-4144A>C) c.5053A>C (p.Thr1685Pro) c.4507A>C (p.Thr1503Pro) c.4580-4144A>C (n.4580-4144A>C) c.4234A>C (p.Thr1412Pro) c.3761-4144A>C (n.3761-4144A>C) c.3685A>C (p.Thr1229Pro) c.5599A>C (p.Thr1867Pro) c.5323A>C (p.Thr1775Pro) | |
9 | g.115046486A>C | CA466912397 | TNC | c.318-4145T>G c.3215-4145T>G (n.3215-4145T>G) c.3960T>G (p.Ala1320=) c.1992T>G (p.Ala664=) c.648T>G (p.Ala216=) c.4007T>G c.5049T>G (p.Ala1683=) c.4503T>G (p.Ala1501=) c.4307-4145T>G (n.4307-4145T>G) n.367T>G n.253-4145T>G n.40-4145T>G c.736T>G c.4776T>G (p.Ala1592=) c.4034-4145T>G (n.4034-4145T>G) c.3411T>G (p.Ala1137=) c.5325T>G (p.Ala1775=) c.3488-4145T>G (n.3488-4145T>G) c.5052T>G (p.Ala1684=) c.4506T>G (p.Ala1502=) c.4580-4145T>G (n.4580-4145T>G) c.4233T>G (p.Ala1411=) c.3761-4145T>G (n.3761-4145T>G) c.3684T>G (p.Ala1228=) c.5598T>G (p.Ala1866=) c.5322T>G (p.Ala1774=) | |
9 | g.115046486A>G | CA466912395 | TNC | c.318-4145T>C c.3215-4145T>C (n.3215-4145T>C) c.3960T>C (p.Ala1320=) c.1992T>C (p.Ala664=) c.648T>C (p.Ala216=) c.4007T>C c.5049T>C (p.Ala1683=) c.4503T>C (p.Ala1501=) c.4307-4145T>C (n.4307-4145T>C) n.367T>C n.253-4145T>C n.40-4145T>C c.736T>C c.4776T>C (p.Ala1592=) c.4034-4145T>C (n.4034-4145T>C) c.3411T>C (p.Ala1137=) c.5325T>C (p.Ala1775=) c.3488-4145T>C (n.3488-4145T>C) c.5052T>C (p.Ala1684=) c.4506T>C (p.Ala1502=) c.4580-4145T>C (n.4580-4145T>C) c.4233T>C (p.Ala1411=) c.3761-4145T>C (n.3761-4145T>C) c.3684T>C (p.Ala1228=) c.5598T>C (p.Ala1866=) c.5322T>C (p.Ala1774=) | |
9 | g.115046486A>T | CA466912394 | TNC | c.318-4145T>A c.3215-4145T>A (n.3215-4145T>A) c.3960T>A (p.Ala1320=) c.1992T>A (p.Ala664=) c.648T>A (p.Ala216=) c.4007T>A c.5049T>A (p.Ala1683=) c.4503T>A (p.Ala1501=) c.4307-4145T>A (n.4307-4145T>A) n.367T>A n.253-4145T>A n.40-4145T>A c.736T>A c.4776T>A (p.Ala1592=) c.4034-4145T>A (n.4034-4145T>A) c.3411T>A (p.Ala1137=) c.5325T>A (p.Ala1775=) c.3488-4145T>A (n.3488-4145T>A) c.5052T>A (p.Ala1684=) c.4506T>A (p.Ala1502=) c.4580-4145T>A (n.4580-4145T>A) c.4233T>A (p.Ala1411=) c.3761-4145T>A (n.3761-4145T>A) c.3684T>A (p.Ala1228=) c.5598T>A (p.Ala1866=) c.5322T>A (p.Ala1774=) | gnomAD v4 |
9 | g.115046487G>A | CA374630792 | TNC | c.318-4146C>T c.3215-4146C>T (n.3215-4146C>T) c.3959C>T (p.Ala1320Val) c.1991C>T (p.Ala664Val) c.647C>T (p.Ala216Val) c.4006C>T c.5048C>T (p.Ala1683Val) c.4502C>T (p.Ala1501Val) c.4307-4146C>T (n.4307-4146C>T) n.366C>T n.253-4146C>T n.40-4146C>T c.735C>T c.4775C>T (p.Ala1592Val) c.4034-4146C>T (n.4034-4146C>T) c.3410C>T (p.Ala1137Val) c.5324C>T (p.Ala1775Val) c.3488-4146C>T (n.3488-4146C>T) c.5051C>T (p.Ala1684Val) c.4505C>T (p.Ala1502Val) c.4580-4146C>T (n.4580-4146C>T) c.4232C>T (p.Ala1411Val) c.3761-4146C>T (n.3761-4146C>T) c.3683C>T (p.Ala1228Val) c.5597C>T (p.Ala1866Val) c.5321C>T (p.Ala1774Val) | |
9 | g.115046487G>C | CA374630794 | TNC | c.318-4146C>G c.3215-4146C>G (n.3215-4146C>G) c.3959C>G (p.Ala1320Gly) c.1991C>G (p.Ala664Gly) c.647C>G (p.Ala216Gly) c.4006C>G c.5048C>G (p.Ala1683Gly) c.4502C>G (p.Ala1501Gly) c.4307-4146C>G (n.4307-4146C>G) n.366C>G n.253-4146C>G n.40-4146C>G c.735C>G c.4775C>G (p.Ala1592Gly) c.4034-4146C>G (n.4034-4146C>G) c.3410C>G (p.Ala1137Gly) c.5324C>G (p.Ala1775Gly) c.3488-4146C>G (n.3488-4146C>G) c.5051C>G (p.Ala1684Gly) c.4505C>G (p.Ala1502Gly) c.4580-4146C>G (n.4580-4146C>G) c.4232C>G (p.Ala1411Gly) c.3761-4146C>G (n.3761-4146C>G) c.3683C>G (p.Ala1228Gly) c.5597C>G (p.Ala1866Gly) c.5321C>G (p.Ala1774Gly) | |
9 | g.115046487G>T | CA374630790 | TNC | c.318-4146C>A c.3215-4146C>A (n.3215-4146C>A) c.3959C>A (p.Ala1320Asp) c.1991C>A (p.Ala664Asp) c.647C>A (p.Ala216Asp) c.4006C>A c.5048C>A (p.Ala1683Asp) c.4502C>A (p.Ala1501Asp) c.4307-4146C>A (n.4307-4146C>A) n.366C>A n.253-4146C>A n.40-4146C>A c.735C>A c.4775C>A (p.Ala1592Asp) c.4034-4146C>A (n.4034-4146C>A) c.3410C>A (p.Ala1137Asp) c.5324C>A (p.Ala1775Asp) c.3488-4146C>A (n.3488-4146C>A) c.5051C>A (p.Ala1684Asp) c.4505C>A (p.Ala1502Asp) c.4580-4146C>A (n.4580-4146C>A) c.4232C>A (p.Ala1411Asp) c.3761-4146C>A (n.3761-4146C>A) c.3683C>A (p.Ala1228Asp) c.5597C>A (p.Ala1866Asp) c.5321C>A (p.Ala1774Asp) | |
9 | g.115046488C>A | CA374630795 | TNC | c.318-4147G>T c.3215-4147G>T (n.3215-4147G>T) c.3958G>T (p.Ala1320Ser) c.1990G>T (p.Ala664Ser) c.646G>T (p.Ala216Ser) c.4005G>T c.5047G>T (p.Ala1683Ser) c.4501G>T (p.Ala1501Ser) c.4307-4147G>T (n.4307-4147G>T) n.365G>T n.253-4147G>T n.40-4147G>T c.734G>T c.4774G>T (p.Ala1592Ser) c.4034-4147G>T (n.4034-4147G>T) c.3409G>T (p.Ala1137Ser) c.5323G>T (p.Ala1775Ser) c.3488-4147G>T (n.3488-4147G>T) c.5050G>T (p.Ala1684Ser) c.4504G>T (p.Ala1502Ser) c.4580-4147G>T (n.4580-4147G>T) c.4231G>T (p.Ala1411Ser) c.3761-4147G>T (n.3761-4147G>T) c.3682G>T (p.Ala1228Ser) c.5596G>T (p.Ala1866Ser) c.5320G>T (p.Ala1774Ser) | gnomAD v4 |
9 | g.115046488C>G | CA374630796 | TNC | c.318-4147G>C c.3215-4147G>C (n.3215-4147G>C) c.3958G>C (p.Ala1320Pro) c.1990G>C (p.Ala664Pro) c.646G>C (p.Ala216Pro) c.4005G>C c.5047G>C (p.Ala1683Pro) c.4501G>C (p.Ala1501Pro) c.4307-4147G>C (n.4307-4147G>C) n.365G>C n.253-4147G>C n.40-4147G>C c.734G>C c.4774G>C (p.Ala1592Pro) c.4034-4147G>C (n.4034-4147G>C) c.3409G>C (p.Ala1137Pro) c.5323G>C (p.Ala1775Pro) c.3488-4147G>C (n.3488-4147G>C) c.5050G>C (p.Ala1684Pro) c.4504G>C (p.Ala1502Pro) c.4580-4147G>C (n.4580-4147G>C) c.4231G>C (p.Ala1411Pro) c.3761-4147G>C (n.3761-4147G>C) c.3682G>C (p.Ala1228Pro) c.5596G>C (p.Ala1866Pro) c.5320G>C (p.Ala1774Pro) | gnomAD v4 |
9 | g.115046488C>T | CA374630798 | TNC | c.318-4147G>A c.3215-4147G>A (n.3215-4147G>A) c.3958G>A (p.Ala1320Thr) c.1990G>A (p.Ala664Thr) c.646G>A (p.Ala216Thr) c.4005G>A c.5047G>A (p.Ala1683Thr) c.4501G>A (p.Ala1501Thr) c.4307-4147G>A (n.4307-4147G>A) n.365G>A n.253-4147G>A n.40-4147G>A c.734G>A c.4774G>A (p.Ala1592Thr) c.4034-4147G>A (n.4034-4147G>A) c.3409G>A (p.Ala1137Thr) c.5323G>A (p.Ala1775Thr) c.3488-4147G>A (n.3488-4147G>A) c.5050G>A (p.Ala1684Thr) c.4504G>A (p.Ala1502Thr) c.4580-4147G>A (n.4580-4147G>A) c.4231G>A (p.Ala1411Thr) c.3761-4147G>A (n.3761-4147G>A) c.3682G>A (p.Ala1228Thr) c.5596G>A (p.Ala1866Thr) c.5320G>A (p.Ala1774Thr) | |
9 | g.115046489C>A | CA374630800 | TNC | c.318-4148G>T c.3215-4148G>T (n.3215-4148G>T) c.3957G>T (p.Glu1319Asp) c.1989G>T (p.Glu663Asp) c.645G>T (p.Glu215Asp) c.4004G>T c.5046G>T (p.Glu1682Asp) c.4500G>T (p.Glu1500Asp) c.4307-4148G>T (n.4307-4148G>T) n.364G>T n.253-4148G>T n.40-4148G>T c.733G>T c.4773G>T (p.Glu1591Asp) c.4034-4148G>T (n.4034-4148G>T) c.3408G>T (p.Glu1136Asp) c.5322G>T (p.Glu1774Asp) c.3488-4148G>T (n.3488-4148G>T) c.5049G>T (p.Glu1683Asp) c.4503G>T (p.Glu1501Asp) c.4580-4148G>T (n.4580-4148G>T) c.4230G>T (p.Glu1410Asp) c.3761-4148G>T (n.3761-4148G>T) c.3681G>T (p.Glu1227Asp) c.5595G>T (p.Glu1865Asp) c.5319G>T (p.Glu1773Asp) | |
9 | g.115046489C>G | CA374630802 | TNC | c.318-4148G>C c.3215-4148G>C (n.3215-4148G>C) c.3957G>C (p.Glu1319Asp) c.1989G>C (p.Glu663Asp) c.645G>C (p.Glu215Asp) c.4004G>C c.5046G>C (p.Glu1682Asp) c.4500G>C (p.Glu1500Asp) c.4307-4148G>C (n.4307-4148G>C) n.364G>C n.253-4148G>C n.40-4148G>C c.733G>C c.4773G>C (p.Glu1591Asp) c.4034-4148G>C (n.4034-4148G>C) c.3408G>C (p.Glu1136Asp) c.5322G>C (p.Glu1774Asp) c.3488-4148G>C (n.3488-4148G>C) c.5049G>C (p.Glu1683Asp) c.4503G>C (p.Glu1501Asp) c.4580-4148G>C (n.4580-4148G>C) c.4230G>C (p.Glu1410Asp) c.3761-4148G>C (n.3761-4148G>C) c.3681G>C (p.Glu1227Asp) c.5595G>C (p.Glu1865Asp) c.5319G>C (p.Glu1773Asp) | |
9 | g.115046489C>T | CA466912399 | TNC | c.318-4148G>A c.3215-4148G>A (n.3215-4148G>A) c.3957G>A (p.Glu1319=) c.1989G>A (p.Glu663=) c.645G>A (p.Glu215=) c.4004G>A c.5046G>A (p.Glu1682=) c.4500G>A (p.Glu1500=) c.4307-4148G>A (n.4307-4148G>A) n.364G>A n.253-4148G>A n.40-4148G>A c.733G>A c.4773G>A (p.Glu1591=) c.4034-4148G>A (n.4034-4148G>A) c.3408G>A (p.Glu1136=) c.5322G>A (p.Glu1774=) c.3488-4148G>A (n.3488-4148G>A) c.5049G>A (p.Glu1683=) c.4503G>A (p.Glu1501=) c.4580-4148G>A (n.4580-4148G>A) c.4230G>A (p.Glu1410=) c.3761-4148G>A (n.3761-4148G>A) c.3681G>A (p.Glu1227=) c.5595G>A (p.Glu1865=) c.5319G>A (p.Glu1773=) | |
9 | g.115046490T>A | CA374630804 | TNC | c.318-4149A>T c.3215-4149A>T (n.3215-4149A>T) c.3956A>T (p.Glu1319Val) c.1988A>T (p.Glu663Val) c.644A>T (p.Glu215Val) c.4003A>T c.5045A>T (p.Glu1682Val) c.4499A>T (p.Glu1500Val) c.4307-4149A>T (n.4307-4149A>T) n.363A>T n.253-4149A>T n.40-4149A>T c.732A>T c.4772A>T (p.Glu1591Val) c.4034-4149A>T (n.4034-4149A>T) c.3407A>T (p.Glu1136Val) c.5321A>T (p.Glu1774Val) c.3488-4149A>T (n.3488-4149A>T) c.5048A>T (p.Glu1683Val) c.4502A>T (p.Glu1501Val) c.4580-4149A>T (n.4580-4149A>T) c.4229A>T (p.Glu1410Val) c.3761-4149A>T (n.3761-4149A>T) c.3680A>T (p.Glu1227Val) c.5594A>T (p.Glu1865Val) c.5318A>T (p.Glu1773Val) | |
9 | g.115046490T>C | CA374630806 | TNC | c.318-4149A>G c.3215-4149A>G (n.3215-4149A>G) c.3956A>G (p.Glu1319Gly) c.1988A>G (p.Glu663Gly) c.644A>G (p.Glu215Gly) c.4003A>G c.5045A>G (p.Glu1682Gly) c.4499A>G (p.Glu1500Gly) c.4307-4149A>G (n.4307-4149A>G) n.363A>G n.253-4149A>G n.40-4149A>G c.732A>G c.4772A>G (p.Glu1591Gly) c.4034-4149A>G (n.4034-4149A>G) c.3407A>G (p.Glu1136Gly) c.5321A>G (p.Glu1774Gly) c.3488-4149A>G (n.3488-4149A>G) c.5048A>G (p.Glu1683Gly) c.4502A>G (p.Glu1501Gly) c.4580-4149A>G (n.4580-4149A>G) c.4229A>G (p.Glu1410Gly) c.3761-4149A>G (n.3761-4149A>G) c.3680A>G (p.Glu1227Gly) c.5594A>G (p.Glu1865Gly) c.5318A>G (p.Glu1773Gly) | |
9 | g.115046490T>G | CA374630808 | TNC | c.318-4149A>C c.3215-4149A>C (n.3215-4149A>C) c.3956A>C (p.Glu1319Ala) c.1988A>C (p.Glu663Ala) c.644A>C (p.Glu215Ala) c.4003A>C c.5045A>C (p.Glu1682Ala) c.4499A>C (p.Glu1500Ala) c.4307-4149A>C (n.4307-4149A>C) n.363A>C n.253-4149A>C n.40-4149A>C c.732A>C c.4772A>C (p.Glu1591Ala) c.4034-4149A>C (n.4034-4149A>C) c.3407A>C (p.Glu1136Ala) c.5321A>C (p.Glu1774Ala) c.3488-4149A>C (n.3488-4149A>C) c.5048A>C (p.Glu1683Ala) c.4502A>C (p.Glu1501Ala) c.4580-4149A>C (n.4580-4149A>C) c.4229A>C (p.Glu1410Ala) c.3761-4149A>C (n.3761-4149A>C) c.3680A>C (p.Glu1227Ala) c.5594A>C (p.Glu1865Ala) c.5318A>C (p.Glu1773Ala) | |
9 | g.115046491C>A | CA374630810 | TNC | c.318-4150G>T c.3215-4150G>T (n.3215-4150G>T) c.3955G>T (p.Glu1319Ter) c.1987G>T (p.Glu663Ter) c.643G>T (p.Glu215Ter) c.4002G>T c.5044G>T (p.Glu1682Ter) c.4498G>T (p.Glu1500Ter) c.4307-4150G>T (n.4307-4150G>T) n.362G>T n.253-4150G>T n.40-4150G>T c.731G>T c.4771G>T (p.Glu1591Ter) c.4034-4150G>T (n.4034-4150G>T) c.3406G>T (p.Glu1136Ter) c.5320G>T (p.Glu1774Ter) c.3488-4150G>T (n.3488-4150G>T) c.5047G>T (p.Glu1683Ter) c.4501G>T (p.Glu1501Ter) c.4580-4150G>T (n.4580-4150G>T) c.4228G>T (p.Glu1410Ter) c.3761-4150G>T (n.3761-4150G>T) c.3679G>T (p.Glu1227Ter) c.5593G>T (p.Glu1865Ter) c.5317G>T (p.Glu1773Ter) | |
9 | g.115046491C= | CA1874118886 | TNC | c.318-4150G= c.3215-4150G= (n.3215-4150G=) c.3955G= (p.Glu1319=) c.1987G= (p.Glu663=) c.643G= (p.Glu215=) c.4002G= c.5044G= (p.Glu1682=) c.4498G= (p.Glu1500=) c.4307-4150G= (n.4307-4150G=) n.362G= n.253-4150G= n.40-4150G= c.731G= c.4771G= (p.Glu1591=) c.4034-4150G= (n.4034-4150G=) c.3406G= (p.Glu1136=) c.5320G= (p.Glu1774=) c.3488-4150G= (n.3488-4150G=) c.5047G= (p.Glu1683=) c.4501G= (p.Glu1501=) c.4580-4150G= (n.4580-4150G=) c.4228G= (p.Glu1410=) c.3761-4150G= (n.3761-4150G=) c.3679G= (p.Glu1227=) c.5593G= (p.Glu1865=) c.5317G= (p.Glu1773=) | |
9 | g.115046491C>G | CA374630812 | TNC | c.318-4150G>C c.3215-4150G>C (n.3215-4150G>C) c.3955G>C (p.Glu1319Gln) c.1987G>C (p.Glu663Gln) c.643G>C (p.Glu215Gln) c.4002G>C c.5044G>C (p.Glu1682Gln) c.4498G>C (p.Glu1500Gln) c.4307-4150G>C (n.4307-4150G>C) n.362G>C n.253-4150G>C n.40-4150G>C c.731G>C c.4771G>C (p.Glu1591Gln) c.4034-4150G>C (n.4034-4150G>C) c.3406G>C (p.Glu1136Gln) c.5320G>C (p.Glu1774Gln) c.3488-4150G>C (n.3488-4150G>C) c.5047G>C (p.Glu1683Gln) c.4501G>C (p.Glu1501Gln) c.4580-4150G>C (n.4580-4150G>C) c.4228G>C (p.Glu1410Gln) c.3761-4150G>C (n.3761-4150G>C) c.3679G>C (p.Glu1227Gln) c.5593G>C (p.Glu1865Gln) c.5317G>C (p.Glu1773Gln) | |
9 | g.115046491C>T | CA5207768 | TNC | c.318-4150G>A c.3215-4150G>A (n.3215-4150G>A) c.3955G>A (p.Glu1319Lys) c.1987G>A (p.Glu663Lys) c.643G>A (p.Glu215Lys) c.4002G>A c.5044G>A (p.Glu1682Lys) c.4498G>A (p.Glu1500Lys) c.4307-4150G>A (n.4307-4150G>A) n.362G>A n.253-4150G>A n.40-4150G>A c.731G>A c.4771G>A (p.Glu1591Lys) c.4034-4150G>A (n.4034-4150G>A) c.3406G>A (p.Glu1136Lys) c.5320G>A (p.Glu1774Lys) c.3488-4150G>A (n.3488-4150G>A) c.5047G>A (p.Glu1683Lys) c.4501G>A (p.Glu1501Lys) c.4580-4150G>A (n.4580-4150G>A) c.4228G>A (p.Glu1410Lys) c.3761-4150G>A (n.3761-4150G>A) c.3679G>A (p.Glu1227Lys) c.5593G>A (p.Glu1865Lys) c.5317G>A (p.Glu1773Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046492T>A | CA374630814 | TNC | c.318-4151A>T c.3215-4151A>T (n.3215-4151A>T) c.3954A>T (p.Arg1318Ser) c.1986A>T (p.Arg662Ser) c.642A>T (p.Arg214Ser) c.4001A>T c.5043A>T (p.Arg1681Ser) c.4497A>T (p.Arg1499Ser) c.4307-4151A>T (n.4307-4151A>T) n.361A>T n.253-4151A>T n.40-4151A>T c.730A>T c.4770A>T (p.Arg1590Ser) c.4034-4151A>T (n.4034-4151A>T) c.3405A>T (p.Arg1135Ser) c.5319A>T (p.Arg1773Ser) c.3488-4151A>T (n.3488-4151A>T) c.5046A>T (p.Arg1682Ser) c.4500A>T (p.Arg1500Ser) c.4580-4151A>T (n.4580-4151A>T) c.4227A>T (p.Arg1409Ser) c.3761-4151A>T (n.3761-4151A>T) c.3678A>T (p.Arg1226Ser) c.5592A>T (p.Arg1864Ser) c.5316A>T (p.Arg1772Ser) | |
9 | g.115046492T>C | CA466912401 | TNC | c.318-4151A>G c.3215-4151A>G (n.3215-4151A>G) c.3954A>G (p.Arg1318=) c.1986A>G (p.Arg662=) c.642A>G (p.Arg214=) c.4001A>G c.5043A>G (p.Arg1681=) c.4497A>G (p.Arg1499=) c.4307-4151A>G (n.4307-4151A>G) n.361A>G n.253-4151A>G n.40-4151A>G c.730A>G c.4770A>G (p.Arg1590=) c.4034-4151A>G (n.4034-4151A>G) c.3405A>G (p.Arg1135=) c.5319A>G (p.Arg1773=) c.3488-4151A>G (n.3488-4151A>G) c.5046A>G (p.Arg1682=) c.4500A>G (p.Arg1500=) c.4580-4151A>G (n.4580-4151A>G) c.4227A>G (p.Arg1409=) c.3761-4151A>G (n.3761-4151A>G) c.3678A>G (p.Arg1226=) c.5592A>G (p.Arg1864=) c.5316A>G (p.Arg1772=) | |
9 | g.115046492T>G | CA374630815 | TNC | c.318-4151A>C c.3215-4151A>C (n.3215-4151A>C) c.3954A>C (p.Arg1318Ser) c.1986A>C (p.Arg662Ser) c.642A>C (p.Arg214Ser) c.4001A>C c.5043A>C (p.Arg1681Ser) c.4497A>C (p.Arg1499Ser) c.4307-4151A>C (n.4307-4151A>C) n.361A>C n.253-4151A>C n.40-4151A>C c.730A>C c.4770A>C (p.Arg1590Ser) c.4034-4151A>C (n.4034-4151A>C) c.3405A>C (p.Arg1135Ser) c.5319A>C (p.Arg1773Ser) c.3488-4151A>C (n.3488-4151A>C) c.5046A>C (p.Arg1682Ser) c.4500A>C (p.Arg1500Ser) c.4580-4151A>C (n.4580-4151A>C) c.4227A>C (p.Arg1409Ser) c.3761-4151A>C (n.3761-4151A>C) c.3678A>C (p.Arg1226Ser) c.5592A>C (p.Arg1864Ser) c.5316A>C (p.Arg1772Ser) | |
9 | g.115046493C>A | CA374630821 | TNC | c.318-4152G>T c.3215-4152G>T (n.3215-4152G>T) c.3953G>T (p.Arg1318Ile) c.1985G>T (p.Arg662Ile) c.641G>T (p.Arg214Ile) c.4000G>T c.5042G>T (p.Arg1681Ile) c.4496G>T (p.Arg1499Ile) c.4307-4152G>T (n.4307-4152G>T) n.360G>T n.253-4152G>T n.40-4152G>T c.729G>T c.4769G>T (p.Arg1590Ile) c.4034-4152G>T (n.4034-4152G>T) c.3404G>T (p.Arg1135Ile) c.5318G>T (p.Arg1773Ile) c.3488-4152G>T (n.3488-4152G>T) c.5045G>T (p.Arg1682Ile) c.4499G>T (p.Arg1500Ile) c.4580-4152G>T (n.4580-4152G>T) c.4226G>T (p.Arg1409Ile) c.3761-4152G>T (n.3761-4152G>T) c.3677G>T (p.Arg1226Ile) c.5591G>T (p.Arg1864Ile) c.5315G>T (p.Arg1772Ile) | |
9 | g.115046493C= | CA1874118887 | TNC | c.318-4152G= c.3215-4152G= (n.3215-4152G=) c.3953G= (p.Arg1318=) c.1985G= (p.Arg662=) c.641G= (p.Arg214=) c.4000G= c.5042G= (p.Arg1681=) c.4496G= (p.Arg1499=) c.4307-4152G= (n.4307-4152G=) n.360G= n.253-4152G= n.40-4152G= c.729G= c.4769G= (p.Arg1590=) c.4034-4152G= (n.4034-4152G=) c.3404G= (p.Arg1135=) c.5318G= (p.Arg1773=) c.3488-4152G= (n.3488-4152G=) c.5045G= (p.Arg1682=) c.4499G= (p.Arg1500=) c.4580-4152G= (n.4580-4152G=) c.4226G= (p.Arg1409=) c.3761-4152G= (n.3761-4152G=) c.3677G= (p.Arg1226=) c.5591G= (p.Arg1864=) c.5315G= (p.Arg1772=) | |
9 | g.115046493C>G | CA374630819 | TNC | c.318-4152G>C c.3215-4152G>C (n.3215-4152G>C) c.3953G>C (p.Arg1318Thr) c.1985G>C (p.Arg662Thr) c.641G>C (p.Arg214Thr) c.4000G>C c.5042G>C (p.Arg1681Thr) c.4496G>C (p.Arg1499Thr) c.4307-4152G>C (n.4307-4152G>C) n.360G>C n.253-4152G>C n.40-4152G>C c.729G>C c.4769G>C (p.Arg1590Thr) c.4034-4152G>C (n.4034-4152G>C) c.3404G>C (p.Arg1135Thr) c.5318G>C (p.Arg1773Thr) c.3488-4152G>C (n.3488-4152G>C) c.5045G>C (p.Arg1682Thr) c.4499G>C (p.Arg1500Thr) c.4580-4152G>C (n.4580-4152G>C) c.4226G>C (p.Arg1409Thr) c.3761-4152G>C (n.3761-4152G>C) c.3677G>C (p.Arg1226Thr) c.5591G>C (p.Arg1864Thr) c.5315G>C (p.Arg1772Thr) | |
9 | g.115046493C>T | CA374630818 | TNC | c.318-4152G>A c.3215-4152G>A (n.3215-4152G>A) c.3953G>A (p.Arg1318Lys) c.1985G>A (p.Arg662Lys) c.641G>A (p.Arg214Lys) c.4000G>A c.5042G>A (p.Arg1681Lys) c.4496G>A (p.Arg1499Lys) c.4307-4152G>A (n.4307-4152G>A) n.360G>A n.253-4152G>A n.40-4152G>A c.729G>A c.4769G>A (p.Arg1590Lys) c.4034-4152G>A (n.4034-4152G>A) c.3404G>A (p.Arg1135Lys) c.5318G>A (p.Arg1773Lys) c.3488-4152G>A (n.3488-4152G>A) c.5045G>A (p.Arg1682Lys) c.4499G>A (p.Arg1500Lys) c.4580-4152G>A (n.4580-4152G>A) c.4226G>A (p.Arg1409Lys) c.3761-4152G>A (n.3761-4152G>A) c.3677G>A (p.Arg1226Lys) c.5591G>A (p.Arg1864Lys) c.5315G>A (p.Arg1772Lys) | dbSNP gnomAD v4 |
9 | g.115046494T>A | CA374630823 | TNC | c.318-4153A>T c.3215-4153A>T (n.3215-4153A>T) c.3952A>T (p.Arg1318Ter) c.1984A>T (p.Arg662Ter) c.640A>T (p.Arg214Ter) c.3999A>T c.5041A>T (p.Arg1681Ter) c.4495A>T (p.Arg1499Ter) c.4307-4153A>T (n.4307-4153A>T) n.359A>T n.253-4153A>T n.40-4153A>T c.728A>T c.4768A>T (p.Arg1590Ter) c.4034-4153A>T (n.4034-4153A>T) c.3403A>T (p.Arg1135Ter) c.5317A>T (p.Arg1773Ter) c.3488-4153A>T (n.3488-4153A>T) c.5044A>T (p.Arg1682Ter) c.4498A>T (p.Arg1500Ter) c.4580-4153A>T (n.4580-4153A>T) c.4225A>T (p.Arg1409Ter) c.3761-4153A>T (n.3761-4153A>T) c.3676A>T (p.Arg1226Ter) c.5590A>T (p.Arg1864Ter) c.5314A>T (p.Arg1772Ter) | |
9 | g.115046494T>C | CA374630825 | TNC | c.318-4153A>G c.3215-4153A>G (n.3215-4153A>G) c.3952A>G (p.Arg1318Gly) c.1984A>G (p.Arg662Gly) c.640A>G (p.Arg214Gly) c.3999A>G c.5041A>G (p.Arg1681Gly) c.4495A>G (p.Arg1499Gly) c.4307-4153A>G (n.4307-4153A>G) n.359A>G n.253-4153A>G n.40-4153A>G c.728A>G c.4768A>G (p.Arg1590Gly) c.4034-4153A>G (n.4034-4153A>G) c.3403A>G (p.Arg1135Gly) c.5317A>G (p.Arg1773Gly) c.3488-4153A>G (n.3488-4153A>G) c.5044A>G (p.Arg1682Gly) c.4498A>G (p.Arg1500Gly) c.4580-4153A>G (n.4580-4153A>G) c.4225A>G (p.Arg1409Gly) c.3761-4153A>G (n.3761-4153A>G) c.3676A>G (p.Arg1226Gly) c.5590A>G (p.Arg1864Gly) c.5314A>G (p.Arg1772Gly) | |
9 | g.115046494T>G | CA466912402 | TNC | c.318-4153A>C c.3215-4153A>C (n.3215-4153A>C) c.3952A>C (p.Arg1318=) c.1984A>C (p.Arg662=) c.640A>C (p.Arg214=) c.3999A>C c.5041A>C (p.Arg1681=) c.4495A>C (p.Arg1499=) c.4307-4153A>C (n.4307-4153A>C) n.359A>C n.253-4153A>C n.40-4153A>C c.728A>C c.4768A>C (p.Arg1590=) c.4034-4153A>C (n.4034-4153A>C) c.3403A>C (p.Arg1135=) c.5317A>C (p.Arg1773=) c.3488-4153A>C (n.3488-4153A>C) c.5044A>C (p.Arg1682=) c.4498A>C (p.Arg1500=) c.4580-4153A>C (n.4580-4153A>C) c.4225A>C (p.Arg1409=) c.3761-4153A>C (n.3761-4153A>C) c.3676A>C (p.Arg1226=) c.5590A>C (p.Arg1864=) c.5314A>C (p.Arg1772=) | |
9 | g.115046495G>A | CA466912403 | TNC | c.318-4154C>T c.3215-4154C>T (n.3215-4154C>T) c.3951C>T (p.Leu1317=) c.1983C>T (p.Leu661=) c.639C>T (p.Leu213=) c.3998C>T c.5040C>T (p.Leu1680=) c.4494C>T (p.Leu1498=) c.4307-4154C>T (n.4307-4154C>T) n.358C>T n.253-4154C>T n.40-4154C>T c.727C>T c.4767C>T (p.Leu1589=) c.4034-4154C>T (n.4034-4154C>T) c.3402C>T (p.Leu1134=) c.5316C>T (p.Leu1772=) c.3488-4154C>T (n.3488-4154C>T) c.5043C>T (p.Leu1681=) c.4497C>T (p.Leu1499=) c.4580-4154C>T (n.4580-4154C>T) c.4224C>T (p.Leu1408=) c.3761-4154C>T (n.3761-4154C>T) c.3675C>T (p.Leu1225=) c.5589C>T (p.Leu1863=) c.5313C>T (p.Leu1771=) | dbSNP |
9 | g.115046495G>C | CA466912404 | TNC | c.318-4154C>G c.3215-4154C>G (n.3215-4154C>G) c.3951C>G (p.Leu1317=) c.1983C>G (p.Leu661=) c.639C>G (p.Leu213=) c.3998C>G c.5040C>G (p.Leu1680=) c.4494C>G (p.Leu1498=) c.4307-4154C>G (n.4307-4154C>G) n.358C>G n.253-4154C>G n.40-4154C>G c.727C>G c.4767C>G (p.Leu1589=) c.4034-4154C>G (n.4034-4154C>G) c.3402C>G (p.Leu1134=) c.5316C>G (p.Leu1772=) c.3488-4154C>G (n.3488-4154C>G) c.5043C>G (p.Leu1681=) c.4497C>G (p.Leu1499=) c.4580-4154C>G (n.4580-4154C>G) c.4224C>G (p.Leu1408=) c.3761-4154C>G (n.3761-4154C>G) c.3675C>G (p.Leu1225=) c.5589C>G (p.Leu1863=) c.5313C>G (p.Leu1771=) | |
9 | g.115046495G= | CA1874118888 | TNC | c.318-4154C= c.3215-4154C= (n.3215-4154C=) c.3951C= (p.Leu1317=) c.1983C= (p.Leu661=) c.639C= (p.Leu213=) c.3998C= c.5040C= (p.Leu1680=) c.4494C= (p.Leu1498=) c.4307-4154C= (n.4307-4154C=) n.358C= n.253-4154C= n.40-4154C= c.727C= c.4767C= (p.Leu1589=) c.4034-4154C= (n.4034-4154C=) c.3402C= (p.Leu1134=) c.5316C= (p.Leu1772=) c.3488-4154C= (n.3488-4154C=) c.5043C= (p.Leu1681=) c.4497C= (p.Leu1499=) c.4580-4154C= (n.4580-4154C=) c.4224C= (p.Leu1408=) c.3761-4154C= (n.3761-4154C=) c.3675C= (p.Leu1225=) c.5589C= (p.Leu1863=) c.5313C= (p.Leu1771=) | |
9 | g.115046495G>T | CA466912405 | TNC | c.318-4154C>A c.3215-4154C>A (n.3215-4154C>A) c.3951C>A (p.Leu1317=) c.1983C>A (p.Leu661=) c.639C>A (p.Leu213=) c.3998C>A c.5040C>A (p.Leu1680=) c.4494C>A (p.Leu1498=) c.4307-4154C>A (n.4307-4154C>A) n.358C>A n.253-4154C>A n.40-4154C>A c.727C>A c.4767C>A (p.Leu1589=) c.4034-4154C>A (n.4034-4154C>A) c.3402C>A (p.Leu1134=) c.5316C>A (p.Leu1772=) c.3488-4154C>A (n.3488-4154C>A) c.5043C>A (p.Leu1681=) c.4497C>A (p.Leu1499=) c.4580-4154C>A (n.4580-4154C>A) c.4224C>A (p.Leu1408=) c.3761-4154C>A (n.3761-4154C>A) c.3675C>A (p.Leu1225=) c.5589C>A (p.Leu1863=) c.5313C>A (p.Leu1771=) | |
9 | g.115046496A>C | CA374630827 | TNC | c.318-4155T>G c.3215-4155T>G (n.3215-4155T>G) c.3950T>G (p.Leu1317Arg) c.1982T>G (p.Leu661Arg) c.638T>G (p.Leu213Arg) c.3997T>G c.5039T>G (p.Leu1680Arg) c.4493T>G (p.Leu1498Arg) c.4307-4155T>G (n.4307-4155T>G) n.357T>G n.253-4155T>G n.40-4155T>G c.726T>G c.4766T>G (p.Leu1589Arg) c.4034-4155T>G (n.4034-4155T>G) c.3401T>G (p.Leu1134Arg) c.5315T>G (p.Leu1772Arg) c.3488-4155T>G (n.3488-4155T>G) c.5042T>G (p.Leu1681Arg) c.4496T>G (p.Leu1499Arg) c.4580-4155T>G (n.4580-4155T>G) c.4223T>G (p.Leu1408Arg) c.3761-4155T>G (n.3761-4155T>G) c.3674T>G (p.Leu1225Arg) c.5588T>G (p.Leu1863Arg) c.5312T>G (p.Leu1771Arg) | |
9 | g.115046496A>G | CA374630829 | TNC | c.318-4155T>C c.3215-4155T>C (n.3215-4155T>C) c.3950T>C (p.Leu1317Pro) c.1982T>C (p.Leu661Pro) c.638T>C (p.Leu213Pro) c.3997T>C c.5039T>C (p.Leu1680Pro) c.4493T>C (p.Leu1498Pro) c.4307-4155T>C (n.4307-4155T>C) n.357T>C n.253-4155T>C n.40-4155T>C c.726T>C c.4766T>C (p.Leu1589Pro) c.4034-4155T>C (n.4034-4155T>C) c.3401T>C (p.Leu1134Pro) c.5315T>C (p.Leu1772Pro) c.3488-4155T>C (n.3488-4155T>C) c.5042T>C (p.Leu1681Pro) c.4496T>C (p.Leu1499Pro) c.4580-4155T>C (n.4580-4155T>C) c.4223T>C (p.Leu1408Pro) c.3761-4155T>C (n.3761-4155T>C) c.3674T>C (p.Leu1225Pro) c.5588T>C (p.Leu1863Pro) c.5312T>C (p.Leu1771Pro) | |
9 | g.115046496A>T | CA374630831 | TNC | c.318-4155T>A c.3215-4155T>A (n.3215-4155T>A) c.3950T>A (p.Leu1317His) c.1982T>A (p.Leu661His) c.638T>A (p.Leu213His) c.3997T>A c.5039T>A (p.Leu1680His) c.4493T>A (p.Leu1498His) c.4307-4155T>A (n.4307-4155T>A) n.357T>A n.253-4155T>A n.40-4155T>A c.726T>A c.4766T>A (p.Leu1589His) c.4034-4155T>A (n.4034-4155T>A) c.3401T>A (p.Leu1134His) c.5315T>A (p.Leu1772His) c.3488-4155T>A (n.3488-4155T>A) c.5042T>A (p.Leu1681His) c.4496T>A (p.Leu1499His) c.4580-4155T>A (n.4580-4155T>A) c.4223T>A (p.Leu1408His) c.3761-4155T>A (n.3761-4155T>A) c.3674T>A (p.Leu1225His) c.5588T>A (p.Leu1863His) c.5312T>A (p.Leu1771His) | |
9 | g.115046497G>A | CA374630833 | TNC | c.318-4156C>T c.3215-4156C>T (n.3215-4156C>T) c.3949C>T (p.Leu1317Phe) c.1981C>T (p.Leu661Phe) c.637C>T (p.Leu213Phe) c.3996C>T c.5038C>T (p.Leu1680Phe) c.4492C>T (p.Leu1498Phe) c.4307-4156C>T (n.4307-4156C>T) n.356C>T n.253-4156C>T n.40-4156C>T c.725C>T c.4765C>T (p.Leu1589Phe) c.4034-4156C>T (n.4034-4156C>T) c.3400C>T (p.Leu1134Phe) c.5314C>T (p.Leu1772Phe) c.3488-4156C>T (n.3488-4156C>T) c.5041C>T (p.Leu1681Phe) c.4495C>T (p.Leu1499Phe) c.4580-4156C>T (n.4580-4156C>T) c.4222C>T (p.Leu1408Phe) c.3761-4156C>T (n.3761-4156C>T) c.3673C>T (p.Leu1225Phe) c.5587C>T (p.Leu1863Phe) c.5311C>T (p.Leu1771Phe) | |
9 | g.115046497G>C | CA374630835 | TNC | c.318-4156C>G c.3215-4156C>G (n.3215-4156C>G) c.3949C>G (p.Leu1317Val) c.1981C>G (p.Leu661Val) c.637C>G (p.Leu213Val) c.3996C>G c.5038C>G (p.Leu1680Val) c.4492C>G (p.Leu1498Val) c.4307-4156C>G (n.4307-4156C>G) n.356C>G n.253-4156C>G n.40-4156C>G c.725C>G c.4765C>G (p.Leu1589Val) c.4034-4156C>G (n.4034-4156C>G) c.3400C>G (p.Leu1134Val) c.5314C>G (p.Leu1772Val) c.3488-4156C>G (n.3488-4156C>G) c.5041C>G (p.Leu1681Val) c.4495C>G (p.Leu1499Val) c.4580-4156C>G (n.4580-4156C>G) c.4222C>G (p.Leu1408Val) c.3761-4156C>G (n.3761-4156C>G) c.3673C>G (p.Leu1225Val) c.5587C>G (p.Leu1863Val) c.5311C>G (p.Leu1771Val) | |
9 | g.115046497G>T | CA374630837 | TNC | c.318-4156C>A c.3215-4156C>A (n.3215-4156C>A) c.3949C>A (p.Leu1317Ile) c.1981C>A (p.Leu661Ile) c.637C>A (p.Leu213Ile) c.3996C>A c.5038C>A (p.Leu1680Ile) c.4492C>A (p.Leu1498Ile) c.4307-4156C>A (n.4307-4156C>A) n.356C>A n.253-4156C>A n.40-4156C>A c.725C>A c.4765C>A (p.Leu1589Ile) c.4034-4156C>A (n.4034-4156C>A) c.3400C>A (p.Leu1134Ile) c.5314C>A (p.Leu1772Ile) c.3488-4156C>A (n.3488-4156C>A) c.5041C>A (p.Leu1681Ile) c.4495C>A (p.Leu1499Ile) c.4580-4156C>A (n.4580-4156C>A) c.4222C>A (p.Leu1408Ile) c.3761-4156C>A (n.3761-4156C>A) c.3673C>A (p.Leu1225Ile) c.5587C>A (p.Leu1863Ile) c.5311C>A (p.Leu1771Ile) | |
9 | g.115046498A>C | CA466912408 | TNC | c.318-4157T>G c.3215-4157T>G (n.3215-4157T>G) c.3948T>G (p.Gly1316=) c.1980T>G (p.Gly660=) c.636T>G (p.Gly212=) c.3995T>G c.5037T>G (p.Gly1679=) c.4491T>G (p.Gly1497=) c.4307-4157T>G (n.4307-4157T>G) n.355T>G n.253-4157T>G n.40-4157T>G c.724T>G c.4764T>G (p.Gly1588=) c.4034-4157T>G (n.4034-4157T>G) c.3399T>G (p.Gly1133=) c.5313T>G (p.Gly1771=) c.3488-4157T>G (n.3488-4157T>G) c.5040T>G (p.Gly1680=) c.4494T>G (p.Gly1498=) c.4580-4157T>G (n.4580-4157T>G) c.4221T>G (p.Gly1407=) c.3761-4157T>G (n.3761-4157T>G) c.3672T>G (p.Gly1224=) c.5586T>G (p.Gly1862=) c.5310T>G (p.Gly1770=) | |
9 | g.115046498A>G | CA466912409 | TNC | c.318-4157T>C c.3215-4157T>C (n.3215-4157T>C) c.3948T>C (p.Gly1316=) c.1980T>C (p.Gly660=) c.636T>C (p.Gly212=) c.3995T>C c.5037T>C (p.Gly1679=) c.4491T>C (p.Gly1497=) c.4307-4157T>C (n.4307-4157T>C) n.355T>C n.253-4157T>C n.40-4157T>C c.724T>C c.4764T>C (p.Gly1588=) c.4034-4157T>C (n.4034-4157T>C) c.3399T>C (p.Gly1133=) c.5313T>C (p.Gly1771=) c.3488-4157T>C (n.3488-4157T>C) c.5040T>C (p.Gly1680=) c.4494T>C (p.Gly1498=) c.4580-4157T>C (n.4580-4157T>C) c.4221T>C (p.Gly1407=) c.3761-4157T>C (n.3761-4157T>C) c.3672T>C (p.Gly1224=) c.5586T>C (p.Gly1862=) c.5310T>C (p.Gly1770=) | gnomAD v4 |
9 | g.115046498A>T | CA466912410 | TNC | c.318-4157T>A c.3215-4157T>A (n.3215-4157T>A) c.3948T>A (p.Gly1316=) c.1980T>A (p.Gly660=) c.636T>A (p.Gly212=) c.3995T>A c.5037T>A (p.Gly1679=) c.4491T>A (p.Gly1497=) c.4307-4157T>A (n.4307-4157T>A) n.355T>A n.253-4157T>A n.40-4157T>A c.724T>A c.4764T>A (p.Gly1588=) c.4034-4157T>A (n.4034-4157T>A) c.3399T>A (p.Gly1133=) c.5313T>A (p.Gly1771=) c.3488-4157T>A (n.3488-4157T>A) c.5040T>A (p.Gly1680=) c.4494T>A (p.Gly1498=) c.4580-4157T>A (n.4580-4157T>A) c.4221T>A (p.Gly1407=) c.3761-4157T>A (n.3761-4157T>A) c.3672T>A (p.Gly1224=) c.5586T>A (p.Gly1862=) c.5310T>A (p.Gly1770=) | |
9 | g.115046499C>A | CA374630839 | TNC | c.318-4158G>T c.3215-4158G>T (n.3215-4158G>T) c.3947G>T (p.Gly1316Val) c.1979G>T (p.Gly660Val) c.635G>T (p.Gly212Val) c.3994G>T c.5036G>T (p.Gly1679Val) c.4490G>T (p.Gly1497Val) c.4307-4158G>T (n.4307-4158G>T) n.354G>T n.253-4158G>T n.40-4158G>T c.723G>T c.4763G>T (p.Gly1588Val) c.4034-4158G>T (n.4034-4158G>T) c.3398G>T (p.Gly1133Val) c.5312G>T (p.Gly1771Val) c.3488-4158G>T (n.3488-4158G>T) c.5039G>T (p.Gly1680Val) c.4493G>T (p.Gly1498Val) c.4580-4158G>T (n.4580-4158G>T) c.4220G>T (p.Gly1407Val) c.3761-4158G>T (n.3761-4158G>T) c.3671G>T (p.Gly1224Val) c.5585G>T (p.Gly1862Val) c.5309G>T (p.Gly1770Val) | |
9 | g.115046499C= | CA1874118889 | TNC | c.318-4158G= c.3215-4158G= (n.3215-4158G=) c.3947G= (p.Gly1316=) c.1979G= (p.Gly660=) c.635G= (p.Gly212=) c.3994G= c.5036G= (p.Gly1679=) c.4490G= (p.Gly1497=) c.4307-4158G= (n.4307-4158G=) n.354G= n.253-4158G= n.40-4158G= c.723G= c.4763G= (p.Gly1588=) c.4034-4158G= (n.4034-4158G=) c.3398G= (p.Gly1133=) c.5312G= (p.Gly1771=) c.3488-4158G= (n.3488-4158G=) c.5039G= (p.Gly1680=) c.4493G= (p.Gly1498=) c.4580-4158G= (n.4580-4158G=) c.4220G= (p.Gly1407=) c.3761-4158G= (n.3761-4158G=) c.3671G= (p.Gly1224=) c.5585G= (p.Gly1862=) c.5309G= (p.Gly1770=) | |
9 | g.115046499C>G | CA374630841 | TNC | c.318-4158G>C c.3215-4158G>C (n.3215-4158G>C) c.3947G>C (p.Gly1316Ala) c.1979G>C (p.Gly660Ala) c.635G>C (p.Gly212Ala) c.3994G>C c.5036G>C (p.Gly1679Ala) c.4490G>C (p.Gly1497Ala) c.4307-4158G>C (n.4307-4158G>C) n.354G>C n.253-4158G>C n.40-4158G>C c.723G>C c.4763G>C (p.Gly1588Ala) c.4034-4158G>C (n.4034-4158G>C) c.3398G>C (p.Gly1133Ala) c.5312G>C (p.Gly1771Ala) c.3488-4158G>C (n.3488-4158G>C) c.5039G>C (p.Gly1680Ala) c.4493G>C (p.Gly1498Ala) c.4580-4158G>C (n.4580-4158G>C) c.4220G>C (p.Gly1407Ala) c.3761-4158G>C (n.3761-4158G>C) c.3671G>C (p.Gly1224Ala) c.5585G>C (p.Gly1862Ala) c.5309G>C (p.Gly1770Ala) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046499C>T | CA374630843 | TNC | c.318-4158G>A c.3215-4158G>A (n.3215-4158G>A) c.3947G>A (p.Gly1316Asp) c.1979G>A (p.Gly660Asp) c.635G>A (p.Gly212Asp) c.3994G>A c.5036G>A (p.Gly1679Asp) c.4490G>A (p.Gly1497Asp) c.4307-4158G>A (n.4307-4158G>A) n.354G>A n.253-4158G>A n.40-4158G>A c.723G>A c.4763G>A (p.Gly1588Asp) c.4034-4158G>A (n.4034-4158G>A) c.3398G>A (p.Gly1133Asp) c.5312G>A (p.Gly1771Asp) c.3488-4158G>A (n.3488-4158G>A) c.5039G>A (p.Gly1680Asp) c.4493G>A (p.Gly1498Asp) c.4580-4158G>A (n.4580-4158G>A) c.4220G>A (p.Gly1407Asp) c.3761-4158G>A (n.3761-4158G>A) c.3671G>A (p.Gly1224Asp) c.5585G>A (p.Gly1862Asp) c.5309G>A (p.Gly1770Asp) | |
9 | g.115046500C>A | CA374630846 | TNC | c.318-4159G>T c.3215-4159G>T (n.3215-4159G>T) c.3946G>T (p.Gly1316Cys) c.1978G>T (p.Gly660Cys) c.634G>T (p.Gly212Cys) c.3993G>T c.5035G>T (p.Gly1679Cys) c.4489G>T (p.Gly1497Cys) c.4307-4159G>T (n.4307-4159G>T) n.353G>T n.253-4159G>T n.40-4159G>T c.722G>T c.4762G>T (p.Gly1588Cys) c.4034-4159G>T (n.4034-4159G>T) c.3397G>T (p.Gly1133Cys) c.5311G>T (p.Gly1771Cys) c.3488-4159G>T (n.3488-4159G>T) c.5038G>T (p.Gly1680Cys) c.4492G>T (p.Gly1498Cys) c.4580-4159G>T (n.4580-4159G>T) c.4219G>T (p.Gly1407Cys) c.3761-4159G>T (n.3761-4159G>T) c.3670G>T (p.Gly1224Cys) c.5584G>T (p.Gly1862Cys) c.5308G>T (p.Gly1770Cys) | |
9 | g.115046500C= | CA1874118890 | TNC | c.318-4159G= c.3215-4159G= (n.3215-4159G=) c.3946G= (p.Gly1316=) c.1978G= (p.Gly660=) c.634G= (p.Gly212=) c.3993G= c.5035G= (p.Gly1679=) c.4489G= (p.Gly1497=) c.4307-4159G= (n.4307-4159G=) n.353G= n.253-4159G= n.40-4159G= c.722G= c.4762G= (p.Gly1588=) c.4034-4159G= (n.4034-4159G=) c.3397G= (p.Gly1133=) c.5311G= (p.Gly1771=) c.3488-4159G= (n.3488-4159G=) c.5038G= (p.Gly1680=) c.4492G= (p.Gly1498=) c.4580-4159G= (n.4580-4159G=) c.4219G= (p.Gly1407=) c.3761-4159G= (n.3761-4159G=) c.3670G= (p.Gly1224=) c.5584G= (p.Gly1862=) c.5308G= (p.Gly1770=) | |
9 | g.115046500C>G | CA374630848 | TNC | c.318-4159G>C c.3215-4159G>C (n.3215-4159G>C) c.3946G>C (p.Gly1316Arg) c.1978G>C (p.Gly660Arg) c.634G>C (p.Gly212Arg) c.3993G>C c.5035G>C (p.Gly1679Arg) c.4489G>C (p.Gly1497Arg) c.4307-4159G>C (n.4307-4159G>C) n.353G>C n.253-4159G>C n.40-4159G>C c.722G>C c.4762G>C (p.Gly1588Arg) c.4034-4159G>C (n.4034-4159G>C) c.3397G>C (p.Gly1133Arg) c.5311G>C (p.Gly1771Arg) c.3488-4159G>C (n.3488-4159G>C) c.5038G>C (p.Gly1680Arg) c.4492G>C (p.Gly1498Arg) c.4580-4159G>C (n.4580-4159G>C) c.4219G>C (p.Gly1407Arg) c.3761-4159G>C (n.3761-4159G>C) c.3670G>C (p.Gly1224Arg) c.5584G>C (p.Gly1862Arg) c.5308G>C (p.Gly1770Arg) | |
9 | g.115046500C>T | CA5207769 | TNC | c.318-4159G>A c.3215-4159G>A (n.3215-4159G>A) c.3946G>A (p.Gly1316Ser) c.1978G>A (p.Gly660Ser) c.634G>A (p.Gly212Ser) c.3993G>A c.5035G>A (p.Gly1679Ser) c.4489G>A (p.Gly1497Ser) c.4307-4159G>A (n.4307-4159G>A) n.353G>A n.253-4159G>A n.40-4159G>A c.722G>A c.4762G>A (p.Gly1588Ser) c.4034-4159G>A (n.4034-4159G>A) c.3397G>A (p.Gly1133Ser) c.5311G>A (p.Gly1771Ser) c.3488-4159G>A (n.3488-4159G>A) c.5038G>A (p.Gly1680Ser) c.4492G>A (p.Gly1498Ser) c.4580-4159G>A (n.4580-4159G>A) c.4219G>A (p.Gly1407Ser) c.3761-4159G>A (n.3761-4159G>A) c.3670G>A (p.Gly1224Ser) c.5584G>A (p.Gly1862Ser) c.5308G>A (p.Gly1770Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046501T>A | CA466912411 | TNC | c.318-4160A>T c.3215-4160A>T (n.3215-4160A>T) c.3945A>T (p.Thr1315=) c.1977A>T (p.Thr659=) c.633A>T (p.Thr211=) c.3992A>T c.5034A>T (p.Thr1678=) c.4488A>T (p.Thr1496=) c.4307-4160A>T (n.4307-4160A>T) n.352A>T n.253-4160A>T n.40-4160A>T c.721A>T c.4761A>T (p.Thr1587=) c.4034-4160A>T (n.4034-4160A>T) c.3396A>T (p.Thr1132=) c.5310A>T (p.Thr1770=) c.3488-4160A>T (n.3488-4160A>T) c.5037A>T (p.Thr1679=) c.4491A>T (p.Thr1497=) c.4580-4160A>T (n.4580-4160A>T) c.4218A>T (p.Thr1406=) c.3761-4160A>T (n.3761-4160A>T) c.3669A>T (p.Thr1223=) c.5583A>T (p.Thr1861=) c.5307A>T (p.Thr1769=) | |
9 | g.115046501T>C | CA466912412 | TNC | c.318-4160A>G c.3215-4160A>G (n.3215-4160A>G) c.3945A>G (p.Thr1315=) c.1977A>G (p.Thr659=) c.633A>G (p.Thr211=) c.3992A>G c.5034A>G (p.Thr1678=) c.4488A>G (p.Thr1496=) c.4307-4160A>G (n.4307-4160A>G) n.352A>G n.253-4160A>G n.40-4160A>G c.721A>G c.4761A>G (p.Thr1587=) c.4034-4160A>G (n.4034-4160A>G) c.3396A>G (p.Thr1132=) c.5310A>G (p.Thr1770=) c.3488-4160A>G (n.3488-4160A>G) c.5037A>G (p.Thr1679=) c.4491A>G (p.Thr1497=) c.4580-4160A>G (n.4580-4160A>G) c.4218A>G (p.Thr1406=) c.3761-4160A>G (n.3761-4160A>G) c.3669A>G (p.Thr1223=) c.5583A>G (p.Thr1861=) c.5307A>G (p.Thr1769=) | gnomAD v4 |
9 | g.115046501T>G | CA466912413 | TNC | c.318-4160A>C c.3215-4160A>C (n.3215-4160A>C) c.3945A>C (p.Thr1315=) c.1977A>C (p.Thr659=) c.633A>C (p.Thr211=) c.3992A>C c.5034A>C (p.Thr1678=) c.4488A>C (p.Thr1496=) c.4307-4160A>C (n.4307-4160A>C) n.352A>C n.253-4160A>C n.40-4160A>C c.721A>C c.4761A>C (p.Thr1587=) c.4034-4160A>C (n.4034-4160A>C) c.3396A>C (p.Thr1132=) c.5310A>C (p.Thr1770=) c.3488-4160A>C (n.3488-4160A>C) c.5037A>C (p.Thr1679=) c.4491A>C (p.Thr1497=) c.4580-4160A>C (n.4580-4160A>C) c.4218A>C (p.Thr1406=) c.3761-4160A>C (n.3761-4160A>C) c.3669A>C (p.Thr1223=) c.5583A>C (p.Thr1861=) c.5307A>C (p.Thr1769=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046501T= | CA1874118891 | TNC | c.318-4160A= c.3215-4160A= (n.3215-4160A=) c.3945A= (p.Thr1315=) c.1977A= (p.Thr659=) c.633A= (p.Thr211=) c.3992A= c.5034A= (p.Thr1678=) c.4488A= (p.Thr1496=) c.4307-4160A= (n.4307-4160A=) n.352A= n.253-4160A= n.40-4160A= c.721A= c.4761A= (p.Thr1587=) c.4034-4160A= (n.4034-4160A=) c.3396A= (p.Thr1132=) c.5310A= (p.Thr1770=) c.3488-4160A= (n.3488-4160A=) c.5037A= (p.Thr1679=) c.4491A= (p.Thr1497=) c.4580-4160A= (n.4580-4160A=) c.4218A= (p.Thr1406=) c.3761-4160A= (n.3761-4160A=) c.3669A= (p.Thr1223=) c.5583A= (p.Thr1861=) c.5307A= (p.Thr1769=) | |
9 | g.115046502G>A | CA374630853 | TNC | c.318-4161C>T c.3215-4161C>T (n.3215-4161C>T) c.3944C>T (p.Thr1315Ile) c.1976C>T (p.Thr659Ile) c.632C>T (p.Thr211Ile) c.3991C>T c.5033C>T (p.Thr1678Ile) c.4487C>T (p.Thr1496Ile) c.4307-4161C>T (n.4307-4161C>T) n.351C>T n.253-4161C>T n.40-4161C>T c.720C>T c.4760C>T (p.Thr1587Ile) c.4034-4161C>T (n.4034-4161C>T) c.3395C>T (p.Thr1132Ile) c.5309C>T (p.Thr1770Ile) c.3488-4161C>T (n.3488-4161C>T) c.5036C>T (p.Thr1679Ile) c.4490C>T (p.Thr1497Ile) c.4580-4161C>T (n.4580-4161C>T) c.4217C>T (p.Thr1406Ile) c.3761-4161C>T (n.3761-4161C>T) c.3668C>T (p.Thr1223Ile) c.5582C>T (p.Thr1861Ile) c.5306C>T (p.Thr1769Ile) | |
9 | g.115046502G>C | CA374630855 | TNC | c.318-4161C>G c.3215-4161C>G (n.3215-4161C>G) c.3944C>G (p.Thr1315Arg) c.1976C>G (p.Thr659Arg) c.632C>G (p.Thr211Arg) c.3991C>G c.5033C>G (p.Thr1678Arg) c.4487C>G (p.Thr1496Arg) c.4307-4161C>G (n.4307-4161C>G) n.351C>G n.253-4161C>G n.40-4161C>G c.720C>G c.4760C>G (p.Thr1587Arg) c.4034-4161C>G (n.4034-4161C>G) c.3395C>G (p.Thr1132Arg) c.5309C>G (p.Thr1770Arg) c.3488-4161C>G (n.3488-4161C>G) c.5036C>G (p.Thr1679Arg) c.4490C>G (p.Thr1497Arg) c.4580-4161C>G (n.4580-4161C>G) c.4217C>G (p.Thr1406Arg) c.3761-4161C>G (n.3761-4161C>G) c.3668C>G (p.Thr1223Arg) c.5582C>G (p.Thr1861Arg) c.5306C>G (p.Thr1769Arg) | |
9 | g.115046502G>T | CA374630851 | TNC | c.318-4161C>A c.3215-4161C>A (n.3215-4161C>A) c.3944C>A (p.Thr1315Lys) c.1976C>A (p.Thr659Lys) c.632C>A (p.Thr211Lys) c.3991C>A c.5033C>A (p.Thr1678Lys) c.4487C>A (p.Thr1496Lys) c.4307-4161C>A (n.4307-4161C>A) n.351C>A n.253-4161C>A n.40-4161C>A c.720C>A c.4760C>A (p.Thr1587Lys) c.4034-4161C>A (n.4034-4161C>A) c.3395C>A (p.Thr1132Lys) c.5309C>A (p.Thr1770Lys) c.3488-4161C>A (n.3488-4161C>A) c.5036C>A (p.Thr1679Lys) c.4490C>A (p.Thr1497Lys) c.4580-4161C>A (n.4580-4161C>A) c.4217C>A (p.Thr1406Lys) c.3761-4161C>A (n.3761-4161C>A) c.3668C>A (p.Thr1223Lys) c.5582C>A (p.Thr1861Lys) c.5306C>A (p.Thr1769Lys) | |
9 | g.115046503T>A | CA374630857 | TNC | c.318-4162A>T c.3215-4162A>T (n.3215-4162A>T) c.3943A>T (p.Thr1315Ser) c.1975A>T (p.Thr659Ser) c.631A>T (p.Thr211Ser) c.3990A>T c.5032A>T (p.Thr1678Ser) c.4486A>T (p.Thr1496Ser) c.4307-4162A>T (n.4307-4162A>T) n.350A>T n.253-4162A>T n.40-4162A>T c.719A>T c.4759A>T (p.Thr1587Ser) c.4034-4162A>T (n.4034-4162A>T) c.3394A>T (p.Thr1132Ser) c.5308A>T (p.Thr1770Ser) c.3488-4162A>T (n.3488-4162A>T) c.5035A>T (p.Thr1679Ser) c.4489A>T (p.Thr1497Ser) c.4580-4162A>T (n.4580-4162A>T) c.4216A>T (p.Thr1406Ser) c.3761-4162A>T (n.3761-4162A>T) c.3667A>T (p.Thr1223Ser) c.5581A>T (p.Thr1861Ser) c.5305A>T (p.Thr1769Ser) | |
9 | g.115046503T>C | CA374630859 | TNC | c.318-4162A>G c.3215-4162A>G (n.3215-4162A>G) c.3943A>G (p.Thr1315Ala) c.1975A>G (p.Thr659Ala) c.631A>G (p.Thr211Ala) c.3990A>G c.5032A>G (p.Thr1678Ala) c.4486A>G (p.Thr1496Ala) c.4307-4162A>G (n.4307-4162A>G) n.350A>G n.253-4162A>G n.40-4162A>G c.719A>G c.4759A>G (p.Thr1587Ala) c.4034-4162A>G (n.4034-4162A>G) c.3394A>G (p.Thr1132Ala) c.5308A>G (p.Thr1770Ala) c.3488-4162A>G (n.3488-4162A>G) c.5035A>G (p.Thr1679Ala) c.4489A>G (p.Thr1497Ala) c.4580-4162A>G (n.4580-4162A>G) c.4216A>G (p.Thr1406Ala) c.3761-4162A>G (n.3761-4162A>G) c.3667A>G (p.Thr1223Ala) c.5581A>G (p.Thr1861Ala) c.5305A>G (p.Thr1769Ala) | |
9 | g.115046503T>G | CA374630861 | TNC | c.318-4162A>C c.3215-4162A>C (n.3215-4162A>C) c.3943A>C (p.Thr1315Pro) c.1975A>C (p.Thr659Pro) c.631A>C (p.Thr211Pro) c.3990A>C c.5032A>C (p.Thr1678Pro) c.4486A>C (p.Thr1496Pro) c.4307-4162A>C (n.4307-4162A>C) n.350A>C n.253-4162A>C n.40-4162A>C c.719A>C c.4759A>C (p.Thr1587Pro) c.4034-4162A>C (n.4034-4162A>C) c.3394A>C (p.Thr1132Pro) c.5308A>C (p.Thr1770Pro) c.3488-4162A>C (n.3488-4162A>C) c.5035A>C (p.Thr1679Pro) c.4489A>C (p.Thr1497Pro) c.4580-4162A>C (n.4580-4162A>C) c.4216A>C (p.Thr1406Pro) c.3761-4162A>C (n.3761-4162A>C) c.3667A>C (p.Thr1223Pro) c.5581A>C (p.Thr1861Pro) c.5305A>C (p.Thr1769Pro) | |
9 | g.115046504T>A | CA466912416 | TNC | c.318-4163A>T c.3215-4163A>T (n.3215-4163A>T) c.3942A>T (p.Ile1314=) c.1974A>T (p.Ile658=) c.630A>T (p.Ile210=) c.3989A>T c.5031A>T (p.Ile1677=) c.4485A>T (p.Ile1495=) c.4307-4163A>T (n.4307-4163A>T) n.349A>T n.253-4163A>T n.40-4163A>T c.718A>T c.4758A>T (p.Ile1586=) c.4034-4163A>T (n.4034-4163A>T) c.3393A>T (p.Ile1131=) c.5307A>T (p.Ile1769=) c.3488-4163A>T (n.3488-4163A>T) c.5034A>T (p.Ile1678=) c.4488A>T (p.Ile1496=) c.4580-4163A>T (n.4580-4163A>T) c.4215A>T (p.Ile1405=) c.3761-4163A>T (n.3761-4163A>T) c.3666A>T (p.Ile1222=) c.5580A>T (p.Ile1860=) c.5304A>T (p.Ile1768=) | |
9 | g.115046504T>C | CA374630863 | TNC | c.318-4163A>G c.3215-4163A>G (n.3215-4163A>G) c.3942A>G (p.Ile1314Met) c.1974A>G (p.Ile658Met) c.630A>G (p.Ile210Met) c.3989A>G c.5031A>G (p.Ile1677Met) c.4485A>G (p.Ile1495Met) c.4307-4163A>G (n.4307-4163A>G) n.349A>G n.253-4163A>G n.40-4163A>G c.718A>G c.4758A>G (p.Ile1586Met) c.4034-4163A>G (n.4034-4163A>G) c.3393A>G (p.Ile1131Met) c.5307A>G (p.Ile1769Met) c.3488-4163A>G (n.3488-4163A>G) c.5034A>G (p.Ile1678Met) c.4488A>G (p.Ile1496Met) c.4580-4163A>G (n.4580-4163A>G) c.4215A>G (p.Ile1405Met) c.3761-4163A>G (n.3761-4163A>G) c.3666A>G (p.Ile1222Met) c.5580A>G (p.Ile1860Met) c.5304A>G (p.Ile1768Met) | |
9 | g.115046504T>G | CA466912415 | TNC | c.318-4163A>C c.3215-4163A>C (n.3215-4163A>C) c.3942A>C (p.Ile1314=) c.1974A>C (p.Ile658=) c.630A>C (p.Ile210=) c.3989A>C c.5031A>C (p.Ile1677=) c.4485A>C (p.Ile1495=) c.4307-4163A>C (n.4307-4163A>C) n.349A>C n.253-4163A>C n.40-4163A>C c.718A>C c.4758A>C (p.Ile1586=) c.4034-4163A>C (n.4034-4163A>C) c.3393A>C (p.Ile1131=) c.5307A>C (p.Ile1769=) c.3488-4163A>C (n.3488-4163A>C) c.5034A>C (p.Ile1678=) c.4488A>C (p.Ile1496=) c.4580-4163A>C (n.4580-4163A>C) c.4215A>C (p.Ile1405=) c.3761-4163A>C (n.3761-4163A>C) c.3666A>C (p.Ile1222=) c.5580A>C (p.Ile1860=) c.5304A>C (p.Ile1768=) | |
9 | g.115046505A>C | CA374630865 | TNC | c.318-4164T>G c.3215-4164T>G (n.3215-4164T>G) c.3941T>G (p.Ile1314Arg) c.1973T>G (p.Ile658Arg) c.629T>G (p.Ile210Arg) c.3988T>G c.5030T>G (p.Ile1677Arg) c.4484T>G (p.Ile1495Arg) c.4307-4164T>G (n.4307-4164T>G) n.348T>G n.253-4164T>G n.40-4164T>G c.717T>G c.4757T>G (p.Ile1586Arg) c.4034-4164T>G (n.4034-4164T>G) c.3392T>G (p.Ile1131Arg) c.5306T>G (p.Ile1769Arg) c.3488-4164T>G (n.3488-4164T>G) c.5033T>G (p.Ile1678Arg) c.4487T>G (p.Ile1496Arg) c.4580-4164T>G (n.4580-4164T>G) c.4214T>G (p.Ile1405Arg) c.3761-4164T>G (n.3761-4164T>G) c.3665T>G (p.Ile1222Arg) c.5579T>G (p.Ile1860Arg) c.5303T>G (p.Ile1768Arg) | |
9 | g.115046505A>G | CA374630866 | TNC | c.318-4164T>C c.3215-4164T>C (n.3215-4164T>C) c.3941T>C (p.Ile1314Thr) c.1973T>C (p.Ile658Thr) c.629T>C (p.Ile210Thr) c.3988T>C c.5030T>C (p.Ile1677Thr) c.4484T>C (p.Ile1495Thr) c.4307-4164T>C (n.4307-4164T>C) n.348T>C n.253-4164T>C n.40-4164T>C c.717T>C c.4757T>C (p.Ile1586Thr) c.4034-4164T>C (n.4034-4164T>C) c.3392T>C (p.Ile1131Thr) c.5306T>C (p.Ile1769Thr) c.3488-4164T>C (n.3488-4164T>C) c.5033T>C (p.Ile1678Thr) c.4487T>C (p.Ile1496Thr) c.4580-4164T>C (n.4580-4164T>C) c.4214T>C (p.Ile1405Thr) c.3761-4164T>C (n.3761-4164T>C) c.3665T>C (p.Ile1222Thr) c.5579T>C (p.Ile1860Thr) c.5303T>C (p.Ile1768Thr) | gnomAD v4 |
9 | g.115046505A>T | CA374630868 | TNC | c.318-4164T>A c.3215-4164T>A (n.3215-4164T>A) c.3941T>A (p.Ile1314Lys) c.1973T>A (p.Ile658Lys) c.629T>A (p.Ile210Lys) c.3988T>A c.5030T>A (p.Ile1677Lys) c.4484T>A (p.Ile1495Lys) c.4307-4164T>A (n.4307-4164T>A) n.348T>A n.253-4164T>A n.40-4164T>A c.717T>A c.4757T>A (p.Ile1586Lys) c.4034-4164T>A (n.4034-4164T>A) c.3392T>A (p.Ile1131Lys) c.5306T>A (p.Ile1769Lys) c.3488-4164T>A (n.3488-4164T>A) c.5033T>A (p.Ile1678Lys) c.4487T>A (p.Ile1496Lys) c.4580-4164T>A (n.4580-4164T>A) c.4214T>A (p.Ile1405Lys) c.3761-4164T>A (n.3761-4164T>A) c.3665T>A (p.Ile1222Lys) c.5579T>A (p.Ile1860Lys) c.5303T>A (p.Ile1768Lys) | |
9 | g.115046506T>A | CA5207770 | TNC | c.318-4165A>T c.3215-4165A>T (n.3215-4165A>T) c.3940A>T (p.Ile1314Leu) c.1972A>T (p.Ile658Leu) c.628A>T (p.Ile210Leu) c.3987A>T c.5029A>T (p.Ile1677Leu) c.4483A>T (p.Ile1495Leu) c.4307-4165A>T (n.4307-4165A>T) n.347A>T n.253-4165A>T n.40-4165A>T c.716A>T c.4756A>T (p.Ile1586Leu) c.4034-4165A>T (n.4034-4165A>T) c.3391A>T (p.Ile1131Leu) c.5305A>T (p.Ile1769Leu) c.3488-4165A>T (n.3488-4165A>T) c.5032A>T (p.Ile1678Leu) c.4486A>T (p.Ile1496Leu) c.4580-4165A>T (n.4580-4165A>T) c.4213A>T (p.Ile1405Leu) c.3761-4165A>T (n.3761-4165A>T) c.3664A>T (p.Ile1222Leu) c.5578A>T (p.Ile1860Leu) c.5302A>T (p.Ile1768Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046506T>C | CA374630871 | TNC | c.318-4165A>G c.3215-4165A>G (n.3215-4165A>G) c.3940A>G (p.Ile1314Val) c.1972A>G (p.Ile658Val) c.628A>G (p.Ile210Val) c.3987A>G c.5029A>G (p.Ile1677Val) c.4483A>G (p.Ile1495Val) c.4307-4165A>G (n.4307-4165A>G) n.347A>G n.253-4165A>G n.40-4165A>G c.716A>G c.4756A>G (p.Ile1586Val) c.4034-4165A>G (n.4034-4165A>G) c.3391A>G (p.Ile1131Val) c.5305A>G (p.Ile1769Val) c.3488-4165A>G (n.3488-4165A>G) c.5032A>G (p.Ile1678Val) c.4486A>G (p.Ile1496Val) c.4580-4165A>G (n.4580-4165A>G) c.4213A>G (p.Ile1405Val) c.3761-4165A>G (n.3761-4165A>G) c.3664A>G (p.Ile1222Val) c.5578A>G (p.Ile1860Val) c.5302A>G (p.Ile1768Val) | gnomAD v4 |
9 | g.115046506T>G | CA374630873 | TNC | c.318-4165A>C c.3215-4165A>C (n.3215-4165A>C) c.3940A>C (p.Ile1314Leu) c.1972A>C (p.Ile658Leu) c.628A>C (p.Ile210Leu) c.3987A>C c.5029A>C (p.Ile1677Leu) c.4483A>C (p.Ile1495Leu) c.4307-4165A>C (n.4307-4165A>C) n.347A>C n.253-4165A>C n.40-4165A>C c.716A>C c.4756A>C (p.Ile1586Leu) c.4034-4165A>C (n.4034-4165A>C) c.3391A>C (p.Ile1131Leu) c.5305A>C (p.Ile1769Leu) c.3488-4165A>C (n.3488-4165A>C) c.5032A>C (p.Ile1678Leu) c.4486A>C (p.Ile1496Leu) c.4580-4165A>C (n.4580-4165A>C) c.4213A>C (p.Ile1405Leu) c.3761-4165A>C (n.3761-4165A>C) c.3664A>C (p.Ile1222Leu) c.5578A>C (p.Ile1860Leu) c.5302A>C (p.Ile1768Leu) | |
9 | g.115046506T= | CA1874118892 | TNC | c.318-4165A= c.3215-4165A= (n.3215-4165A=) c.3940A= (p.Ile1314=) c.1972A= (p.Ile658=) c.628A= (p.Ile210=) c.3987A= c.5029A= (p.Ile1677=) c.4483A= (p.Ile1495=) c.4307-4165A= (n.4307-4165A=) n.347A= n.253-4165A= n.40-4165A= c.716A= c.4756A= (p.Ile1586=) c.4034-4165A= (n.4034-4165A=) c.3391A= (p.Ile1131=) c.5305A= (p.Ile1769=) c.3488-4165A= (n.3488-4165A=) c.5032A= (p.Ile1678=) c.4486A= (p.Ile1496=) c.4580-4165A= (n.4580-4165A=) c.4213A= (p.Ile1405=) c.3761-4165A= (n.3761-4165A=) c.3664A= (p.Ile1222=) c.5578A= (p.Ile1860=) c.5302A= (p.Ile1768=) | |
9 | g.115046507G>A | CA466912417 | TNC | c.318-4166C>T c.3215-4166C>T (n.3215-4166C>T) c.3939C>T (p.Asp1313=) c.1971C>T (p.Asp657=) c.627C>T (p.Asp209=) c.3986C>T c.5028C>T (p.Asp1676=) c.4482C>T (p.Asp1494=) c.4307-4166C>T (n.4307-4166C>T) n.346C>T n.253-4166C>T n.40-4166C>T c.715C>T c.4755C>T (p.Asp1585=) c.4034-4166C>T (n.4034-4166C>T) c.3390C>T (p.Asp1130=) c.5304C>T (p.Asp1768=) c.3488-4166C>T (n.3488-4166C>T) c.5031C>T (p.Asp1677=) c.4485C>T (p.Asp1495=) c.4580-4166C>T (n.4580-4166C>T) c.4212C>T (p.Asp1404=) c.3761-4166C>T (n.3761-4166C>T) c.3663C>T (p.Asp1221=) c.5577C>T (p.Asp1859=) c.5301C>T (p.Asp1767=) | |
9 | g.115046507G>C | CA374630875 | TNC | c.318-4166C>G c.3215-4166C>G (n.3215-4166C>G) c.3939C>G (p.Asp1313Glu) c.1971C>G (p.Asp657Glu) c.627C>G (p.Asp209Glu) c.3986C>G c.5028C>G (p.Asp1676Glu) c.4482C>G (p.Asp1494Glu) c.4307-4166C>G (n.4307-4166C>G) n.346C>G n.253-4166C>G n.40-4166C>G c.715C>G c.4755C>G (p.Asp1585Glu) c.4034-4166C>G (n.4034-4166C>G) c.3390C>G (p.Asp1130Glu) c.5304C>G (p.Asp1768Glu) c.3488-4166C>G (n.3488-4166C>G) c.5031C>G (p.Asp1677Glu) c.4485C>G (p.Asp1495Glu) c.4580-4166C>G (n.4580-4166C>G) c.4212C>G (p.Asp1404Glu) c.3761-4166C>G (n.3761-4166C>G) c.3663C>G (p.Asp1221Glu) c.5577C>G (p.Asp1859Glu) c.5301C>G (p.Asp1767Glu) | |
9 | g.115046507G>T | CA374630876 | TNC | c.318-4166C>A c.3215-4166C>A (n.3215-4166C>A) c.3939C>A (p.Asp1313Glu) c.1971C>A (p.Asp657Glu) c.627C>A (p.Asp209Glu) c.3986C>A c.5028C>A (p.Asp1676Glu) c.4482C>A (p.Asp1494Glu) c.4307-4166C>A (n.4307-4166C>A) n.346C>A n.253-4166C>A n.40-4166C>A c.715C>A c.4755C>A (p.Asp1585Glu) c.4034-4166C>A (n.4034-4166C>A) c.3390C>A (p.Asp1130Glu) c.5304C>A (p.Asp1768Glu) c.3488-4166C>A (n.3488-4166C>A) c.5031C>A (p.Asp1677Glu) c.4485C>A (p.Asp1495Glu) c.4580-4166C>A (n.4580-4166C>A) c.4212C>A (p.Asp1404Glu) c.3761-4166C>A (n.3761-4166C>A) c.3663C>A (p.Asp1221Glu) c.5577C>A (p.Asp1859Glu) c.5301C>A (p.Asp1767Glu) | |
9 | g.115046508T>A | CA374630882 | TNC | c.318-4167A>T c.3215-4167A>T (n.3215-4167A>T) c.3938A>T (p.Asp1313Val) c.1970A>T (p.Asp657Val) c.626A>T (p.Asp209Val) c.3985A>T c.5027A>T (p.Asp1676Val) c.4481A>T (p.Asp1494Val) c.4307-4167A>T (n.4307-4167A>T) n.345A>T n.253-4167A>T n.40-4167A>T c.714A>T c.4754A>T (p.Asp1585Val) c.4034-4167A>T (n.4034-4167A>T) c.3389A>T (p.Asp1130Val) c.5303A>T (p.Asp1768Val) c.3488-4167A>T (n.3488-4167A>T) c.5030A>T (p.Asp1677Val) c.4484A>T (p.Asp1495Val) c.4580-4167A>T (n.4580-4167A>T) c.4211A>T (p.Asp1404Val) c.3761-4167A>T (n.3761-4167A>T) c.3662A>T (p.Asp1221Val) c.5576A>T (p.Asp1859Val) c.5300A>T (p.Asp1767Val) | dbSNP gnomAD v4 |
9 | g.115046508T>C | CA374630880 | TNC | c.318-4167A>G c.3215-4167A>G (n.3215-4167A>G) c.3938A>G (p.Asp1313Gly) c.1970A>G (p.Asp657Gly) c.626A>G (p.Asp209Gly) c.3985A>G c.5027A>G (p.Asp1676Gly) c.4481A>G (p.Asp1494Gly) c.4307-4167A>G (n.4307-4167A>G) n.345A>G n.253-4167A>G n.40-4167A>G c.714A>G c.4754A>G (p.Asp1585Gly) c.4034-4167A>G (n.4034-4167A>G) c.3389A>G (p.Asp1130Gly) c.5303A>G (p.Asp1768Gly) c.3488-4167A>G (n.3488-4167A>G) c.5030A>G (p.Asp1677Gly) c.4484A>G (p.Asp1495Gly) c.4580-4167A>G (n.4580-4167A>G) c.4211A>G (p.Asp1404Gly) c.3761-4167A>G (n.3761-4167A>G) c.3662A>G (p.Asp1221Gly) c.5576A>G (p.Asp1859Gly) c.5300A>G (p.Asp1767Gly) | gnomAD v4 |
9 | g.115046508T>G | CA374630879 | TNC | c.318-4167A>C c.3215-4167A>C (n.3215-4167A>C) c.3938A>C (p.Asp1313Ala) c.1970A>C (p.Asp657Ala) c.626A>C (p.Asp209Ala) c.3985A>C c.5027A>C (p.Asp1676Ala) c.4481A>C (p.Asp1494Ala) c.4307-4167A>C (n.4307-4167A>C) n.345A>C n.253-4167A>C n.40-4167A>C c.714A>C c.4754A>C (p.Asp1585Ala) c.4034-4167A>C (n.4034-4167A>C) c.3389A>C (p.Asp1130Ala) c.5303A>C (p.Asp1768Ala) c.3488-4167A>C (n.3488-4167A>C) c.5030A>C (p.Asp1677Ala) c.4484A>C (p.Asp1495Ala) c.4580-4167A>C (n.4580-4167A>C) c.4211A>C (p.Asp1404Ala) c.3761-4167A>C (n.3761-4167A>C) c.3662A>C (p.Asp1221Ala) c.5576A>C (p.Asp1859Ala) c.5300A>C (p.Asp1767Ala) | |
9 | g.115046508T= | CA1874118893 | TNC | c.318-4167A= c.3215-4167A= (n.3215-4167A=) c.3938A= (p.Asp1313=) c.1970A= (p.Asp657=) c.626A= (p.Asp209=) c.3985A= c.5027A= (p.Asp1676=) c.4481A= (p.Asp1494=) c.4307-4167A= (n.4307-4167A=) n.345A= n.253-4167A= n.40-4167A= c.714A= c.4754A= (p.Asp1585=) c.4034-4167A= (n.4034-4167A=) c.3389A= (p.Asp1130=) c.5303A= (p.Asp1768=) c.3488-4167A= (n.3488-4167A=) c.5030A= (p.Asp1677=) c.4484A= (p.Asp1495=) c.4580-4167A= (n.4580-4167A=) c.4211A= (p.Asp1404=) c.3761-4167A= (n.3761-4167A=) c.3662A= (p.Asp1221=) c.5576A= (p.Asp1859=) c.5300A= (p.Asp1767=) | |
9 | g.115046509C>A | CA374630884 | TNC | c.318-4168G>T c.3215-4168G>T (n.3215-4168G>T) c.3937G>T (p.Asp1313Tyr) c.1969G>T (p.Asp657Tyr) c.625G>T (p.Asp209Tyr) c.3984G>T c.5026G>T (p.Asp1676Tyr) c.4480G>T (p.Asp1494Tyr) c.4307-4168G>T (n.4307-4168G>T) n.344G>T n.253-4168G>T n.40-4168G>T c.713G>T c.4753G>T (p.Asp1585Tyr) c.4034-4168G>T (n.4034-4168G>T) c.3388G>T (p.Asp1130Tyr) c.5302G>T (p.Asp1768Tyr) c.3488-4168G>T (n.3488-4168G>T) c.5029G>T (p.Asp1677Tyr) c.4483G>T (p.Asp1495Tyr) c.4580-4168G>T (n.4580-4168G>T) c.4210G>T (p.Asp1404Tyr) c.3761-4168G>T (n.3761-4168G>T) c.3661G>T (p.Asp1221Tyr) c.5575G>T (p.Asp1859Tyr) c.5299G>T (p.Asp1767Tyr) | |
9 | g.115046509C= | CA1874118894 | TNC | c.318-4168G= c.3215-4168G= (n.3215-4168G=) c.3937G= (p.Asp1313=) c.1969G= (p.Asp657=) c.625G= (p.Asp209=) c.3984G= c.5026G= (p.Asp1676=) c.4480G= (p.Asp1494=) c.4307-4168G= (n.4307-4168G=) n.344G= n.253-4168G= n.40-4168G= c.713G= c.4753G= (p.Asp1585=) c.4034-4168G= (n.4034-4168G=) c.3388G= (p.Asp1130=) c.5302G= (p.Asp1768=) c.3488-4168G= (n.3488-4168G=) c.5029G= (p.Asp1677=) c.4483G= (p.Asp1495=) c.4580-4168G= (n.4580-4168G=) c.4210G= (p.Asp1404=) c.3761-4168G= (n.3761-4168G=) c.3661G= (p.Asp1221=) c.5575G= (p.Asp1859=) c.5299G= (p.Asp1767=) | |
9 | g.115046509C>G | CA198692591 | TNC | c.318-4168G>C c.3215-4168G>C (n.3215-4168G>C) c.3937G>C (p.Asp1313His) c.1969G>C (p.Asp657His) c.625G>C (p.Asp209His) c.3984G>C c.5026G>C (p.Asp1676His) c.4480G>C (p.Asp1494His) c.4307-4168G>C (n.4307-4168G>C) n.344G>C n.253-4168G>C n.40-4168G>C c.713G>C c.4753G>C (p.Asp1585His) c.4034-4168G>C (n.4034-4168G>C) c.3388G>C (p.Asp1130His) c.5302G>C (p.Asp1768His) c.3488-4168G>C (n.3488-4168G>C) c.5029G>C (p.Asp1677His) c.4483G>C (p.Asp1495His) c.4580-4168G>C (n.4580-4168G>C) c.4210G>C (p.Asp1404His) c.3761-4168G>C (n.3761-4168G>C) c.3661G>C (p.Asp1221His) c.5575G>C (p.Asp1859His) c.5299G>C (p.Asp1767His) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046509C>T | CA374630887 | TNC | c.318-4168G>A c.3215-4168G>A (n.3215-4168G>A) c.3937G>A (p.Asp1313Asn) c.1969G>A (p.Asp657Asn) c.625G>A (p.Asp209Asn) c.3984G>A c.5026G>A (p.Asp1676Asn) c.4480G>A (p.Asp1494Asn) c.4307-4168G>A (n.4307-4168G>A) n.344G>A n.253-4168G>A n.40-4168G>A c.713G>A c.4753G>A (p.Asp1585Asn) c.4034-4168G>A (n.4034-4168G>A) c.3388G>A (p.Asp1130Asn) c.5302G>A (p.Asp1768Asn) c.3488-4168G>A (n.3488-4168G>A) c.5029G>A (p.Asp1677Asn) c.4483G>A (p.Asp1495Asn) c.4580-4168G>A (n.4580-4168G>A) c.4210G>A (p.Asp1404Asn) c.3761-4168G>A (n.3761-4168G>A) c.3661G>A (p.Asp1221Asn) c.5575G>A (p.Asp1859Asn) c.5299G>A (p.Asp1767Asn) | gnomAD v4 |
9 | g.115046510C>A | CA374630888 | TNC | c.318-4169G>T c.3215-4169G>T (n.3215-4169G>T) c.3936G>T (p.Arg1312Ser) c.1968G>T (p.Arg656Ser) c.624G>T (p.Arg208Ser) c.3983G>T c.5025G>T (p.Arg1675Ser) c.4479G>T (p.Arg1493Ser) c.4307-4169G>T (n.4307-4169G>T) n.343G>T n.253-4169G>T n.40-4169G>T c.712G>T c.4752G>T (p.Arg1584Ser) c.4034-4169G>T (n.4034-4169G>T) c.3387G>T (p.Arg1129Ser) c.5301G>T (p.Arg1767Ser) c.3488-4169G>T (n.3488-4169G>T) c.5028G>T (p.Arg1676Ser) c.4482G>T (p.Arg1494Ser) c.4580-4169G>T (n.4580-4169G>T) c.4209G>T (p.Arg1403Ser) c.3761-4169G>T (n.3761-4169G>T) c.3660G>T (p.Arg1220Ser) c.5574G>T (p.Arg1858Ser) c.5298G>T (p.Arg1766Ser) | gnomAD v4 |
9 | g.115046510C>G | CA374630890 | TNC | c.318-4169G>C c.3215-4169G>C (n.3215-4169G>C) c.3936G>C (p.Arg1312Ser) c.1968G>C (p.Arg656Ser) c.624G>C (p.Arg208Ser) c.3983G>C c.5025G>C (p.Arg1675Ser) c.4479G>C (p.Arg1493Ser) c.4307-4169G>C (n.4307-4169G>C) n.343G>C n.253-4169G>C n.40-4169G>C c.712G>C c.4752G>C (p.Arg1584Ser) c.4034-4169G>C (n.4034-4169G>C) c.3387G>C (p.Arg1129Ser) c.5301G>C (p.Arg1767Ser) c.3488-4169G>C (n.3488-4169G>C) c.5028G>C (p.Arg1676Ser) c.4482G>C (p.Arg1494Ser) c.4580-4169G>C (n.4580-4169G>C) c.4209G>C (p.Arg1403Ser) c.3761-4169G>C (n.3761-4169G>C) c.3660G>C (p.Arg1220Ser) c.5574G>C (p.Arg1858Ser) c.5298G>C (p.Arg1766Ser) | |
9 | g.115046510C>T | CA466912421 | TNC | c.318-4169G>A c.3215-4169G>A (n.3215-4169G>A) c.3936G>A (p.Arg1312=) c.1968G>A (p.Arg656=) c.624G>A (p.Arg208=) c.3983G>A c.5025G>A (p.Arg1675=) c.4479G>A (p.Arg1493=) c.4307-4169G>A (n.4307-4169G>A) n.343G>A n.253-4169G>A n.40-4169G>A c.712G>A c.4752G>A (p.Arg1584=) c.4034-4169G>A (n.4034-4169G>A) c.3387G>A (p.Arg1129=) c.5301G>A (p.Arg1767=) c.3488-4169G>A (n.3488-4169G>A) c.5028G>A (p.Arg1676=) c.4482G>A (p.Arg1494=) c.4580-4169G>A (n.4580-4169G>A) c.4209G>A (p.Arg1403=) c.3761-4169G>A (n.3761-4169G>A) c.3660G>A (p.Arg1220=) c.5574G>A (p.Arg1858=) c.5298G>A (p.Arg1766=) | |
9 | g.115046511C>A | CA374630892 | TNC | c.318-4170G>T c.3215-4170G>T (n.3215-4170G>T) c.3935G>T (p.Arg1312Met) c.1967G>T (p.Arg656Met) c.623G>T (p.Arg208Met) c.3982G>T c.5024G>T (p.Arg1675Met) c.4478G>T (p.Arg1493Met) c.4307-4170G>T (n.4307-4170G>T) n.342G>T n.253-4170G>T n.40-4170G>T c.711G>T c.4751G>T (p.Arg1584Met) c.4034-4170G>T (n.4034-4170G>T) c.3386G>T (p.Arg1129Met) c.5300G>T (p.Arg1767Met) c.3488-4170G>T (n.3488-4170G>T) c.5027G>T (p.Arg1676Met) c.4481G>T (p.Arg1494Met) c.4580-4170G>T (n.4580-4170G>T) c.4208G>T (p.Arg1403Met) c.3761-4170G>T (n.3761-4170G>T) c.3659G>T (p.Arg1220Met) c.5573G>T (p.Arg1858Met) c.5297G>T (p.Arg1766Met) | |
9 | g.115046511C>G | CA374630894 | TNC | c.318-4170G>C c.3215-4170G>C (n.3215-4170G>C) c.3935G>C (p.Arg1312Thr) c.1967G>C (p.Arg656Thr) c.623G>C (p.Arg208Thr) c.3982G>C c.5024G>C (p.Arg1675Thr) c.4478G>C (p.Arg1493Thr) c.4307-4170G>C (n.4307-4170G>C) n.342G>C n.253-4170G>C n.40-4170G>C c.711G>C c.4751G>C (p.Arg1584Thr) c.4034-4170G>C (n.4034-4170G>C) c.3386G>C (p.Arg1129Thr) c.5300G>C (p.Arg1767Thr) c.3488-4170G>C (n.3488-4170G>C) c.5027G>C (p.Arg1676Thr) c.4481G>C (p.Arg1494Thr) c.4580-4170G>C (n.4580-4170G>C) c.4208G>C (p.Arg1403Thr) c.3761-4170G>C (n.3761-4170G>C) c.3659G>C (p.Arg1220Thr) c.5573G>C (p.Arg1858Thr) c.5297G>C (p.Arg1766Thr) | gnomAD v4 |
9 | g.115046511C>T | CA374630896 | TNC | c.318-4170G>A c.3215-4170G>A (n.3215-4170G>A) c.3935G>A (p.Arg1312Lys) c.1967G>A (p.Arg656Lys) c.623G>A (p.Arg208Lys) c.3982G>A c.5024G>A (p.Arg1675Lys) c.4478G>A (p.Arg1493Lys) c.4307-4170G>A (n.4307-4170G>A) n.342G>A n.253-4170G>A n.40-4170G>A c.711G>A c.4751G>A (p.Arg1584Lys) c.4034-4170G>A (n.4034-4170G>A) c.3386G>A (p.Arg1129Lys) c.5300G>A (p.Arg1767Lys) c.3488-4170G>A (n.3488-4170G>A) c.5027G>A (p.Arg1676Lys) c.4481G>A (p.Arg1494Lys) c.4580-4170G>A (n.4580-4170G>A) c.4208G>A (p.Arg1403Lys) c.3761-4170G>A (n.3761-4170G>A) c.3659G>A (p.Arg1220Lys) c.5573G>A (p.Arg1858Lys) c.5297G>A (p.Arg1766Lys) | |
9 | g.115046512T>A | CA374630898 | TNC | c.318-4171A>T c.3215-4171A>T (n.3215-4171A>T) c.3934A>T (p.Arg1312Trp) c.1966A>T (p.Arg656Trp) c.622A>T (p.Arg208Trp) c.3981A>T c.5023A>T (p.Arg1675Trp) c.4477A>T (p.Arg1493Trp) c.4307-4171A>T (n.4307-4171A>T) n.341A>T n.253-4171A>T n.40-4171A>T c.710A>T c.4750A>T (p.Arg1584Trp) c.4034-4171A>T (n.4034-4171A>T) c.3385A>T (p.Arg1129Trp) c.5299A>T (p.Arg1767Trp) c.3488-4171A>T (n.3488-4171A>T) c.5026A>T (p.Arg1676Trp) c.4480A>T (p.Arg1494Trp) c.4580-4171A>T (n.4580-4171A>T) c.4207A>T (p.Arg1403Trp) c.3761-4171A>T (n.3761-4171A>T) c.3658A>T (p.Arg1220Trp) c.5572A>T (p.Arg1858Trp) c.5296A>T (p.Arg1766Trp) | |
9 | g.115046512T>C | CA374630900 | TNC | c.318-4171A>G c.3215-4171A>G (n.3215-4171A>G) c.3934A>G (p.Arg1312Gly) c.1966A>G (p.Arg656Gly) c.622A>G (p.Arg208Gly) c.3981A>G c.5023A>G (p.Arg1675Gly) c.4477A>G (p.Arg1493Gly) c.4307-4171A>G (n.4307-4171A>G) n.341A>G n.253-4171A>G n.40-4171A>G c.710A>G c.4750A>G (p.Arg1584Gly) c.4034-4171A>G (n.4034-4171A>G) c.3385A>G (p.Arg1129Gly) c.5299A>G (p.Arg1767Gly) c.3488-4171A>G (n.3488-4171A>G) c.5026A>G (p.Arg1676Gly) c.4480A>G (p.Arg1494Gly) c.4580-4171A>G (n.4580-4171A>G) c.4207A>G (p.Arg1403Gly) c.3761-4171A>G (n.3761-4171A>G) c.3658A>G (p.Arg1220Gly) c.5572A>G (p.Arg1858Gly) c.5296A>G (p.Arg1766Gly) | dbSNP |
9 | g.115046512T>G | CA466912423 | TNC | c.318-4171A>C c.3215-4171A>C (n.3215-4171A>C) c.3934A>C (p.Arg1312=) c.1966A>C (p.Arg656=) c.622A>C (p.Arg208=) c.3981A>C c.5023A>C (p.Arg1675=) c.4477A>C (p.Arg1493=) c.4307-4171A>C (n.4307-4171A>C) n.341A>C n.253-4171A>C n.40-4171A>C c.710A>C c.4750A>C (p.Arg1584=) c.4034-4171A>C (n.4034-4171A>C) c.3385A>C (p.Arg1129=) c.5299A>C (p.Arg1767=) c.3488-4171A>C (n.3488-4171A>C) c.5026A>C (p.Arg1676=) c.4480A>C (p.Arg1494=) c.4580-4171A>C (n.4580-4171A>C) c.4207A>C (p.Arg1403=) c.3761-4171A>C (n.3761-4171A>C) c.3658A>C (p.Arg1220=) c.5572A>C (p.Arg1858=) c.5296A>C (p.Arg1766=) | |
9 | g.115046512T= | CA1874118895 | TNC | c.318-4171A= c.3215-4171A= (n.3215-4171A=) c.3934A= (p.Arg1312=) c.1966A= (p.Arg656=) c.622A= (p.Arg208=) c.3981A= c.5023A= (p.Arg1675=) c.4477A= (p.Arg1493=) c.4307-4171A= (n.4307-4171A=) n.341A= n.253-4171A= n.40-4171A= c.710A= c.4750A= (p.Arg1584=) c.4034-4171A= (n.4034-4171A=) c.3385A= (p.Arg1129=) c.5299A= (p.Arg1767=) c.3488-4171A= (n.3488-4171A=) c.5026A= (p.Arg1676=) c.4480A= (p.Arg1494=) c.4580-4171A= (n.4580-4171A=) c.4207A= (p.Arg1403=) c.3761-4171A= (n.3761-4171A=) c.3658A= (p.Arg1220=) c.5572A= (p.Arg1858=) c.5296A= (p.Arg1766=) | |
9 | g.115046513G>A | CA466912425 | TNC | c.318-4172C>T c.3215-4172C>T (n.3215-4172C>T) c.3933C>T (p.Thr1311=) c.1965C>T (p.Thr655=) c.621C>T (p.Thr207=) c.3980C>T c.5022C>T (p.Thr1674=) c.4476C>T (p.Thr1492=) c.4307-4172C>T (n.4307-4172C>T) n.340C>T n.253-4172C>T n.40-4172C>T c.709C>T c.4749C>T (p.Thr1583=) c.4034-4172C>T (n.4034-4172C>T) c.3384C>T (p.Thr1128=) c.5298C>T (p.Thr1766=) c.3488-4172C>T (n.3488-4172C>T) c.5025C>T (p.Thr1675=) c.4479C>T (p.Thr1493=) c.4580-4172C>T (n.4580-4172C>T) c.4206C>T (p.Thr1402=) c.3761-4172C>T (n.3761-4172C>T) c.3657C>T (p.Thr1219=) c.5571C>T (p.Thr1857=) c.5295C>T (p.Thr1765=) | gnomAD v4 |
9 | g.115046513G>C | CA466912427 | TNC | c.318-4172C>G c.3215-4172C>G (n.3215-4172C>G) c.3933C>G (p.Thr1311=) c.1965C>G (p.Thr655=) c.621C>G (p.Thr207=) c.3980C>G c.5022C>G (p.Thr1674=) c.4476C>G (p.Thr1492=) c.4307-4172C>G (n.4307-4172C>G) n.340C>G n.253-4172C>G n.40-4172C>G c.709C>G c.4749C>G (p.Thr1583=) c.4034-4172C>G (n.4034-4172C>G) c.3384C>G (p.Thr1128=) c.5298C>G (p.Thr1766=) c.3488-4172C>G (n.3488-4172C>G) c.5025C>G (p.Thr1675=) c.4479C>G (p.Thr1493=) c.4580-4172C>G (n.4580-4172C>G) c.4206C>G (p.Thr1402=) c.3761-4172C>G (n.3761-4172C>G) c.3657C>G (p.Thr1219=) c.5571C>G (p.Thr1857=) c.5295C>G (p.Thr1765=) | |
9 | g.115046513G>T | CA466912428 | TNC | c.318-4172C>A c.3215-4172C>A (n.3215-4172C>A) c.3933C>A (p.Thr1311=) c.1965C>A (p.Thr655=) c.621C>A (p.Thr207=) c.3980C>A c.5022C>A (p.Thr1674=) c.4476C>A (p.Thr1492=) c.4307-4172C>A (n.4307-4172C>A) n.340C>A n.253-4172C>A n.40-4172C>A c.709C>A c.4749C>A (p.Thr1583=) c.4034-4172C>A (n.4034-4172C>A) c.3384C>A (p.Thr1128=) c.5298C>A (p.Thr1766=) c.3488-4172C>A (n.3488-4172C>A) c.5025C>A (p.Thr1675=) c.4479C>A (p.Thr1493=) c.4580-4172C>A (n.4580-4172C>A) c.4206C>A (p.Thr1402=) c.3761-4172C>A (n.3761-4172C>A) c.3657C>A (p.Thr1219=) c.5571C>A (p.Thr1857=) c.5295C>A (p.Thr1765=) | |
9 | g.115046514G>A | CA374630902 | TNC | c.318-4173C>T c.3215-4173C>T (n.3215-4173C>T) c.3932C>T (p.Thr1311Ile) c.1964C>T (p.Thr655Ile) c.620C>T (p.Thr207Ile) c.3979C>T c.5021C>T (p.Thr1674Ile) c.4475C>T (p.Thr1492Ile) c.4307-4173C>T (n.4307-4173C>T) n.339C>T n.253-4173C>T n.40-4173C>T c.708C>T c.4748C>T (p.Thr1583Ile) c.4034-4173C>T (n.4034-4173C>T) c.3383C>T (p.Thr1128Ile) c.5297C>T (p.Thr1766Ile) c.3488-4173C>T (n.3488-4173C>T) c.5024C>T (p.Thr1675Ile) c.4478C>T (p.Thr1493Ile) c.4580-4173C>T (n.4580-4173C>T) c.4205C>T (p.Thr1402Ile) c.3761-4173C>T (n.3761-4173C>T) c.3656C>T (p.Thr1219Ile) c.5570C>T (p.Thr1857Ile) c.5294C>T (p.Thr1765Ile) | |
9 | g.115046514G>C | CA374630903 | TNC | c.318-4173C>G c.3215-4173C>G (n.3215-4173C>G) c.3932C>G (p.Thr1311Ser) c.1964C>G (p.Thr655Ser) c.620C>G (p.Thr207Ser) c.3979C>G c.5021C>G (p.Thr1674Ser) c.4475C>G (p.Thr1492Ser) c.4307-4173C>G (n.4307-4173C>G) n.339C>G n.253-4173C>G n.40-4173C>G c.708C>G c.4748C>G (p.Thr1583Ser) c.4034-4173C>G (n.4034-4173C>G) c.3383C>G (p.Thr1128Ser) c.5297C>G (p.Thr1766Ser) c.3488-4173C>G (n.3488-4173C>G) c.5024C>G (p.Thr1675Ser) c.4478C>G (p.Thr1493Ser) c.4580-4173C>G (n.4580-4173C>G) c.4205C>G (p.Thr1402Ser) c.3761-4173C>G (n.3761-4173C>G) c.3656C>G (p.Thr1219Ser) c.5570C>G (p.Thr1857Ser) c.5294C>G (p.Thr1765Ser) | ClinVar dbSNP |
9 | g.115046514G= | CA1874118896 | TNC | c.318-4173C= c.3215-4173C= (n.3215-4173C=) c.3932C= (p.Thr1311=) c.1964C= (p.Thr655=) c.620C= (p.Thr207=) c.3979C= c.5021C= (p.Thr1674=) c.4475C= (p.Thr1492=) c.4307-4173C= (n.4307-4173C=) n.339C= n.253-4173C= n.40-4173C= c.708C= c.4748C= (p.Thr1583=) c.4034-4173C= (n.4034-4173C=) c.3383C= (p.Thr1128=) c.5297C= (p.Thr1766=) c.3488-4173C= (n.3488-4173C=) c.5024C= (p.Thr1675=) c.4478C= (p.Thr1493=) c.4580-4173C= (n.4580-4173C=) c.4205C= (p.Thr1402=) c.3761-4173C= (n.3761-4173C=) c.3656C= (p.Thr1219=) c.5570C= (p.Thr1857=) c.5294C= (p.Thr1765=) | |
9 | g.115046514G>T | CA374630905 | TNC | c.318-4173C>A c.3215-4173C>A (n.3215-4173C>A) c.3932C>A (p.Thr1311Asn) c.1964C>A (p.Thr655Asn) c.620C>A (p.Thr207Asn) c.3979C>A c.5021C>A (p.Thr1674Asn) c.4475C>A (p.Thr1492Asn) c.4307-4173C>A (n.4307-4173C>A) n.339C>A n.253-4173C>A n.40-4173C>A c.708C>A c.4748C>A (p.Thr1583Asn) c.4034-4173C>A (n.4034-4173C>A) c.3383C>A (p.Thr1128Asn) c.5297C>A (p.Thr1766Asn) c.3488-4173C>A (n.3488-4173C>A) c.5024C>A (p.Thr1675Asn) c.4478C>A (p.Thr1493Asn) c.4580-4173C>A (n.4580-4173C>A) c.4205C>A (p.Thr1402Asn) c.3761-4173C>A (n.3761-4173C>A) c.3656C>A (p.Thr1219Asn) c.5570C>A (p.Thr1857Asn) c.5294C>A (p.Thr1765Asn) | |
9 | g.115046515T>A | CA374630909 | TNC | c.318-4174A>T c.3215-4174A>T (n.3215-4174A>T) c.3931A>T (p.Thr1311Ser) c.1963A>T (p.Thr655Ser) c.619A>T (p.Thr207Ser) c.3978A>T c.5020A>T (p.Thr1674Ser) c.4474A>T (p.Thr1492Ser) c.4307-4174A>T (n.4307-4174A>T) n.338A>T n.253-4174A>T n.40-4174A>T c.707A>T c.4747A>T (p.Thr1583Ser) c.4034-4174A>T (n.4034-4174A>T) c.3382A>T (p.Thr1128Ser) c.5296A>T (p.Thr1766Ser) c.3488-4174A>T (n.3488-4174A>T) c.5023A>T (p.Thr1675Ser) c.4477A>T (p.Thr1493Ser) c.4580-4174A>T (n.4580-4174A>T) c.4204A>T (p.Thr1402Ser) c.3761-4174A>T (n.3761-4174A>T) c.3655A>T (p.Thr1219Ser) c.5569A>T (p.Thr1857Ser) c.5293A>T (p.Thr1765Ser) | |
9 | g.115046515T>C | CA374630911 | TNC | c.318-4174A>G c.3215-4174A>G (n.3215-4174A>G) c.3931A>G (p.Thr1311Ala) c.1963A>G (p.Thr655Ala) c.619A>G (p.Thr207Ala) c.3978A>G c.5020A>G (p.Thr1674Ala) c.4474A>G (p.Thr1492Ala) c.4307-4174A>G (n.4307-4174A>G) n.338A>G n.253-4174A>G n.40-4174A>G c.707A>G c.4747A>G (p.Thr1583Ala) c.4034-4174A>G (n.4034-4174A>G) c.3382A>G (p.Thr1128Ala) c.5296A>G (p.Thr1766Ala) c.3488-4174A>G (n.3488-4174A>G) c.5023A>G (p.Thr1675Ala) c.4477A>G (p.Thr1493Ala) c.4580-4174A>G (n.4580-4174A>G) c.4204A>G (p.Thr1402Ala) c.3761-4174A>G (n.3761-4174A>G) c.3655A>G (p.Thr1219Ala) c.5569A>G (p.Thr1857Ala) c.5293A>G (p.Thr1765Ala) | COSMIC |
9 | g.115046515T>G | CA374630907 | TNC | c.318-4174A>C c.3215-4174A>C (n.3215-4174A>C) c.3931A>C (p.Thr1311Pro) c.1963A>C (p.Thr655Pro) c.619A>C (p.Thr207Pro) c.3978A>C c.5020A>C (p.Thr1674Pro) c.4474A>C (p.Thr1492Pro) c.4307-4174A>C (n.4307-4174A>C) n.338A>C n.253-4174A>C n.40-4174A>C c.707A>C c.4747A>C (p.Thr1583Pro) c.4034-4174A>C (n.4034-4174A>C) c.3382A>C (p.Thr1128Pro) c.5296A>C (p.Thr1766Pro) c.3488-4174A>C (n.3488-4174A>C) c.5023A>C (p.Thr1675Pro) c.4477A>C (p.Thr1493Pro) c.4580-4174A>C (n.4580-4174A>C) c.4204A>C (p.Thr1402Pro) c.3761-4174A>C (n.3761-4174A>C) c.3655A>C (p.Thr1219Pro) c.5569A>C (p.Thr1857Pro) c.5293A>C (p.Thr1765Pro) | |
9 | g.115046516A= | CA1874118897 | TNC | c.318-4175T= c.3215-4175T= (n.3215-4175T=) c.3930T= (p.Arg1310=) c.1962T= (p.Arg654=) c.618T= (p.Arg206=) c.3977T= c.5019T= (p.Arg1673=) c.4473T= (p.Arg1491=) c.4307-4175T= (n.4307-4175T=) n.337T= n.253-4175T= n.40-4175T= c.706T= c.4746T= (p.Arg1582=) c.4034-4175T= (n.4034-4175T=) c.3381T= (p.Arg1127=) c.5295T= (p.Arg1765=) c.3488-4175T= (n.3488-4175T=) c.5022T= (p.Arg1674=) c.4476T= (p.Arg1492=) c.4580-4175T= (n.4580-4175T=) c.4203T= (p.Arg1401=) c.3761-4175T= (n.3761-4175T=) c.3654T= (p.Arg1218=) c.5568T= (p.Arg1856=) c.5292T= (p.Arg1764=) | |
9 | g.115046516A>C | CA466912431 | TNC | c.318-4175T>G c.3215-4175T>G (n.3215-4175T>G) c.3930T>G (p.Arg1310=) c.1962T>G (p.Arg654=) c.618T>G (p.Arg206=) c.3977T>G c.5019T>G (p.Arg1673=) c.4473T>G (p.Arg1491=) c.4307-4175T>G (n.4307-4175T>G) n.337T>G n.253-4175T>G n.40-4175T>G c.706T>G c.4746T>G (p.Arg1582=) c.4034-4175T>G (n.4034-4175T>G) c.3381T>G (p.Arg1127=) c.5295T>G (p.Arg1765=) c.3488-4175T>G (n.3488-4175T>G) c.5022T>G (p.Arg1674=) c.4476T>G (p.Arg1492=) c.4580-4175T>G (n.4580-4175T>G) c.4203T>G (p.Arg1401=) c.3761-4175T>G (n.3761-4175T>G) c.3654T>G (p.Arg1218=) c.5568T>G (p.Arg1856=) c.5292T>G (p.Arg1764=) | |
9 | g.115046516A>G | CA466912429 | TNC | c.318-4175T>C c.3215-4175T>C (n.3215-4175T>C) c.3930T>C (p.Arg1310=) c.1962T>C (p.Arg654=) c.618T>C (p.Arg206=) c.3977T>C c.5019T>C (p.Arg1673=) c.4473T>C (p.Arg1491=) c.4307-4175T>C (n.4307-4175T>C) n.337T>C n.253-4175T>C n.40-4175T>C c.706T>C c.4746T>C (p.Arg1582=) c.4034-4175T>C (n.4034-4175T>C) c.3381T>C (p.Arg1127=) c.5295T>C (p.Arg1765=) c.3488-4175T>C (n.3488-4175T>C) c.5022T>C (p.Arg1674=) c.4476T>C (p.Arg1492=) c.4580-4175T>C (n.4580-4175T>C) c.4203T>C (p.Arg1401=) c.3761-4175T>C (n.3761-4175T>C) c.3654T>C (p.Arg1218=) c.5568T>C (p.Arg1856=) c.5292T>C (p.Arg1764=) | gnomAD v4 |
9 | g.115046516A>T | CA466912430 | TNC | c.318-4175T>A c.3215-4175T>A (n.3215-4175T>A) c.3930T>A (p.Arg1310=) c.1962T>A (p.Arg654=) c.618T>A (p.Arg206=) c.3977T>A c.5019T>A (p.Arg1673=) c.4473T>A (p.Arg1491=) c.4307-4175T>A (n.4307-4175T>A) n.337T>A n.253-4175T>A n.40-4175T>A c.706T>A c.4746T>A (p.Arg1582=) c.4034-4175T>A (n.4034-4175T>A) c.3381T>A (p.Arg1127=) c.5295T>A (p.Arg1765=) c.3488-4175T>A (n.3488-4175T>A) c.5022T>A (p.Arg1674=) c.4476T>A (p.Arg1492=) c.4580-4175T>A (n.4580-4175T>A) c.4203T>A (p.Arg1401=) c.3761-4175T>A (n.3761-4175T>A) c.3654T>A (p.Arg1218=) c.5568T>A (p.Arg1856=) c.5292T>A (p.Arg1764=) | dbSNP |
9 | g.115046517C>A | CA374630915 | TNC | c.318-4176G>T c.3215-4176G>T (n.3215-4176G>T) c.3929G>T (p.Arg1310Leu) c.1961G>T (p.Arg654Leu) c.617G>T (p.Arg206Leu) c.3976G>T c.5018G>T (p.Arg1673Leu) c.4472G>T (p.Arg1491Leu) c.4307-4176G>T (n.4307-4176G>T) n.336G>T n.253-4176G>T n.40-4176G>T c.705G>T c.4745G>T (p.Arg1582Leu) c.4034-4176G>T (n.4034-4176G>T) c.3380G>T (p.Arg1127Leu) c.5294G>T (p.Arg1765Leu) c.3488-4176G>T (n.3488-4176G>T) c.5021G>T (p.Arg1674Leu) c.4475G>T (p.Arg1492Leu) c.4580-4176G>T (n.4580-4176G>T) c.4202G>T (p.Arg1401Leu) c.3761-4176G>T (n.3761-4176G>T) c.3653G>T (p.Arg1218Leu) c.5567G>T (p.Arg1856Leu) c.5291G>T (p.Arg1764Leu) | |
9 | g.115046517C= | CA1874118898 | TNC | c.318-4176G= c.3215-4176G= (n.3215-4176G=) c.3929G= (p.Arg1310=) c.1961G= (p.Arg654=) c.617G= (p.Arg206=) c.3976G= c.5018G= (p.Arg1673=) c.4472G= (p.Arg1491=) c.4307-4176G= (n.4307-4176G=) n.336G= n.253-4176G= n.40-4176G= c.705G= c.4745G= (p.Arg1582=) c.4034-4176G= (n.4034-4176G=) c.3380G= (p.Arg1127=) c.5294G= (p.Arg1765=) c.3488-4176G= (n.3488-4176G=) c.5021G= (p.Arg1674=) c.4475G= (p.Arg1492=) c.4580-4176G= (n.4580-4176G=) c.4202G= (p.Arg1401=) c.3761-4176G= (n.3761-4176G=) c.3653G= (p.Arg1218=) c.5567G= (p.Arg1856=) c.5291G= (p.Arg1764=) | |
9 | g.115046517C>G | CA374630913 | TNC | c.318-4176G>C c.3215-4176G>C (n.3215-4176G>C) c.3929G>C (p.Arg1310Pro) c.1961G>C (p.Arg654Pro) c.617G>C (p.Arg206Pro) c.3976G>C c.5018G>C (p.Arg1673Pro) c.4472G>C (p.Arg1491Pro) c.4307-4176G>C (n.4307-4176G>C) n.336G>C n.253-4176G>C n.40-4176G>C c.705G>C c.4745G>C (p.Arg1582Pro) c.4034-4176G>C (n.4034-4176G>C) c.3380G>C (p.Arg1127Pro) c.5294G>C (p.Arg1765Pro) c.3488-4176G>C (n.3488-4176G>C) c.5021G>C (p.Arg1674Pro) c.4475G>C (p.Arg1492Pro) c.4580-4176G>C (n.4580-4176G>C) c.4202G>C (p.Arg1401Pro) c.3761-4176G>C (n.3761-4176G>C) c.3653G>C (p.Arg1218Pro) c.5567G>C (p.Arg1856Pro) c.5291G>C (p.Arg1764Pro) | dbSNP |
9 | g.115046517C>T | CA5207771 | TNC | c.318-4176G>A c.3215-4176G>A (n.3215-4176G>A) c.3929G>A (p.Arg1310His) c.1961G>A (p.Arg654His) c.617G>A (p.Arg206His) c.3976G>A c.5018G>A (p.Arg1673His) c.4472G>A (p.Arg1491His) c.4307-4176G>A (n.4307-4176G>A) n.336G>A n.253-4176G>A n.40-4176G>A c.705G>A c.4745G>A (p.Arg1582His) c.4034-4176G>A (n.4034-4176G>A) c.3380G>A (p.Arg1127His) c.5294G>A (p.Arg1765His) c.3488-4176G>A (n.3488-4176G>A) c.5021G>A (p.Arg1674His) c.4475G>A (p.Arg1492His) c.4580-4176G>A (n.4580-4176G>A) c.4202G>A (p.Arg1401His) c.3761-4176G>A (n.3761-4176G>A) c.3653G>A (p.Arg1218His) c.5567G>A (p.Arg1856His) c.5291G>A (p.Arg1764His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046518G>A | CA198692602 | TNC | c.318-4177C>T c.3215-4177C>T (n.3215-4177C>T) c.3928C>T (p.Arg1310Cys) c.1960C>T (p.Arg654Cys) c.616C>T (p.Arg206Cys) c.3975C>T c.5017C>T (p.Arg1673Cys) c.4471C>T (p.Arg1491Cys) c.4307-4177C>T (n.4307-4177C>T) n.335C>T n.253-4177C>T n.40-4177C>T c.704C>T c.4744C>T (p.Arg1582Cys) c.4034-4177C>T (n.4034-4177C>T) c.3379C>T (p.Arg1127Cys) c.5293C>T (p.Arg1765Cys) c.3488-4177C>T (n.3488-4177C>T) c.5020C>T (p.Arg1674Cys) c.4474C>T (p.Arg1492Cys) c.4580-4177C>T (n.4580-4177C>T) c.4201C>T (p.Arg1401Cys) c.3761-4177C>T (n.3761-4177C>T) c.3652C>T (p.Arg1218Cys) c.5566C>T (p.Arg1856Cys) c.5290C>T (p.Arg1764Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046518G>C | CA374630917 | TNC | c.318-4177C>G c.3215-4177C>G (n.3215-4177C>G) c.3928C>G (p.Arg1310Gly) c.1960C>G (p.Arg654Gly) c.616C>G (p.Arg206Gly) c.3975C>G c.5017C>G (p.Arg1673Gly) c.4471C>G (p.Arg1491Gly) c.4307-4177C>G (n.4307-4177C>G) n.335C>G n.253-4177C>G n.40-4177C>G c.704C>G c.4744C>G (p.Arg1582Gly) c.4034-4177C>G (n.4034-4177C>G) c.3379C>G (p.Arg1127Gly) c.5293C>G (p.Arg1765Gly) c.3488-4177C>G (n.3488-4177C>G) c.5020C>G (p.Arg1674Gly) c.4474C>G (p.Arg1492Gly) c.4580-4177C>G (n.4580-4177C>G) c.4201C>G (p.Arg1401Gly) c.3761-4177C>G (n.3761-4177C>G) c.3652C>G (p.Arg1218Gly) c.5566C>G (p.Arg1856Gly) c.5290C>G (p.Arg1764Gly) | |
9 | g.115046518G= | CA1874118899 | TNC | c.318-4177C= c.3215-4177C= (n.3215-4177C=) c.3928C= (p.Arg1310=) c.1960C= (p.Arg654=) c.616C= (p.Arg206=) c.3975C= c.5017C= (p.Arg1673=) c.4471C= (p.Arg1491=) c.4307-4177C= (n.4307-4177C=) n.335C= n.253-4177C= n.40-4177C= c.704C= c.4744C= (p.Arg1582=) c.4034-4177C= (n.4034-4177C=) c.3379C= (p.Arg1127=) c.5293C= (p.Arg1765=) c.3488-4177C= (n.3488-4177C=) c.5020C= (p.Arg1674=) c.4474C= (p.Arg1492=) c.4580-4177C= (n.4580-4177C=) c.4201C= (p.Arg1401=) c.3761-4177C= (n.3761-4177C=) c.3652C= (p.Arg1218=) c.5566C= (p.Arg1856=) c.5290C= (p.Arg1764=) | |
9 | g.115046518G>T | CA374630919 | TNC | c.318-4177C>A c.3215-4177C>A (n.3215-4177C>A) c.3928C>A (p.Arg1310Ser) c.1960C>A (p.Arg654Ser) c.616C>A (p.Arg206Ser) c.3975C>A c.5017C>A (p.Arg1673Ser) c.4471C>A (p.Arg1491Ser) c.4307-4177C>A (n.4307-4177C>A) n.335C>A n.253-4177C>A n.40-4177C>A c.704C>A c.4744C>A (p.Arg1582Ser) c.4034-4177C>A (n.4034-4177C>A) c.3379C>A (p.Arg1127Ser) c.5293C>A (p.Arg1765Ser) c.3488-4177C>A (n.3488-4177C>A) c.5020C>A (p.Arg1674Ser) c.4474C>A (p.Arg1492Ser) c.4580-4177C>A (n.4580-4177C>A) c.4201C>A (p.Arg1401Ser) c.3761-4177C>A (n.3761-4177C>A) c.3652C>A (p.Arg1218Ser) c.5566C>A (p.Arg1856Ser) c.5290C>A (p.Arg1764Ser) | dbSNP gnomAD v4 |
9 | g.115046519T>A | CA374630921 | TNC | c.318-4178A>T c.3215-4178A>T (n.3215-4178A>T) c.3927A>T (p.Glu1309Asp) c.1959A>T (p.Glu653Asp) c.615A>T (p.Glu205Asp) c.3974A>T c.5016A>T (p.Glu1672Asp) c.4470A>T (p.Glu1490Asp) c.4307-4178A>T (n.4307-4178A>T) n.334A>T n.253-4178A>T n.40-4178A>T c.703A>T c.4743A>T (p.Glu1581Asp) c.4034-4178A>T (n.4034-4178A>T) c.3378A>T (p.Glu1126Asp) c.5292A>T (p.Glu1764Asp) c.3488-4178A>T (n.3488-4178A>T) c.5019A>T (p.Glu1673Asp) c.4473A>T (p.Glu1491Asp) c.4580-4178A>T (n.4580-4178A>T) c.4200A>T (p.Glu1400Asp) c.3761-4178A>T (n.3761-4178A>T) c.3651A>T (p.Glu1217Asp) c.5565A>T (p.Glu1855Asp) c.5289A>T (p.Glu1763Asp) | |
9 | g.115046519T>C | CA466912435 | TNC | c.318-4178A>G c.3215-4178A>G (n.3215-4178A>G) c.3927A>G (p.Glu1309=) c.1959A>G (p.Glu653=) c.615A>G (p.Glu205=) c.3974A>G c.5016A>G (p.Glu1672=) c.4470A>G (p.Glu1490=) c.4307-4178A>G (n.4307-4178A>G) n.334A>G n.253-4178A>G n.40-4178A>G c.703A>G c.4743A>G (p.Glu1581=) c.4034-4178A>G (n.4034-4178A>G) c.3378A>G (p.Glu1126=) c.5292A>G (p.Glu1764=) c.3488-4178A>G (n.3488-4178A>G) c.5019A>G (p.Glu1673=) c.4473A>G (p.Glu1491=) c.4580-4178A>G (n.4580-4178A>G) c.4200A>G (p.Glu1400=) c.3761-4178A>G (n.3761-4178A>G) c.3651A>G (p.Glu1217=) c.5565A>G (p.Glu1855=) c.5289A>G (p.Glu1763=) | |
9 | g.115046519T>G | CA374630922 | TNC | c.318-4178A>C c.3215-4178A>C (n.3215-4178A>C) c.3927A>C (p.Glu1309Asp) c.1959A>C (p.Glu653Asp) c.615A>C (p.Glu205Asp) c.3974A>C c.5016A>C (p.Glu1672Asp) c.4470A>C (p.Glu1490Asp) c.4307-4178A>C (n.4307-4178A>C) n.334A>C n.253-4178A>C n.40-4178A>C c.703A>C c.4743A>C (p.Glu1581Asp) c.4034-4178A>C (n.4034-4178A>C) c.3378A>C (p.Glu1126Asp) c.5292A>C (p.Glu1764Asp) c.3488-4178A>C (n.3488-4178A>C) c.5019A>C (p.Glu1673Asp) c.4473A>C (p.Glu1491Asp) c.4580-4178A>C (n.4580-4178A>C) c.4200A>C (p.Glu1400Asp) c.3761-4178A>C (n.3761-4178A>C) c.3651A>C (p.Glu1217Asp) c.5565A>C (p.Glu1855Asp) c.5289A>C (p.Glu1763Asp) | |
9 | g.115046520T>A | CA374630924 | TNC | c.318-4179A>T c.3215-4179A>T (n.3215-4179A>T) c.3926A>T (p.Glu1309Val) c.1958A>T (p.Glu653Val) c.614A>T (p.Glu205Val) c.3973A>T c.5015A>T (p.Glu1672Val) c.4469A>T (p.Glu1490Val) c.4307-4179A>T (n.4307-4179A>T) n.333A>T n.253-4179A>T n.40-4179A>T c.702A>T c.4742A>T (p.Glu1581Val) c.4034-4179A>T (n.4034-4179A>T) c.3377A>T (p.Glu1126Val) c.5291A>T (p.Glu1764Val) c.3488-4179A>T (n.3488-4179A>T) c.5018A>T (p.Glu1673Val) c.4472A>T (p.Glu1491Val) c.4580-4179A>T (n.4580-4179A>T) c.4199A>T (p.Glu1400Val) c.3761-4179A>T (n.3761-4179A>T) c.3650A>T (p.Glu1217Val) c.5564A>T (p.Glu1855Val) c.5288A>T (p.Glu1763Val) | |
9 | g.115046520T>C | CA374630925 | TNC | c.318-4179A>G c.3215-4179A>G (n.3215-4179A>G) c.3926A>G (p.Glu1309Gly) c.1958A>G (p.Glu653Gly) c.614A>G (p.Glu205Gly) c.3973A>G c.5015A>G (p.Glu1672Gly) c.4469A>G (p.Glu1490Gly) c.4307-4179A>G (n.4307-4179A>G) n.333A>G n.253-4179A>G n.40-4179A>G c.702A>G c.4742A>G (p.Glu1581Gly) c.4034-4179A>G (n.4034-4179A>G) c.3377A>G (p.Glu1126Gly) c.5291A>G (p.Glu1764Gly) c.3488-4179A>G (n.3488-4179A>G) c.5018A>G (p.Glu1673Gly) c.4472A>G (p.Glu1491Gly) c.4580-4179A>G (n.4580-4179A>G) c.4199A>G (p.Glu1400Gly) c.3761-4179A>G (n.3761-4179A>G) c.3650A>G (p.Glu1217Gly) c.5564A>G (p.Glu1855Gly) c.5288A>G (p.Glu1763Gly) | |
9 | g.115046520T>G | CA374630927 | TNC | c.318-4179A>C c.3215-4179A>C (n.3215-4179A>C) c.3926A>C (p.Glu1309Ala) c.1958A>C (p.Glu653Ala) c.614A>C (p.Glu205Ala) c.3973A>C c.5015A>C (p.Glu1672Ala) c.4469A>C (p.Glu1490Ala) c.4307-4179A>C (n.4307-4179A>C) n.333A>C n.253-4179A>C n.40-4179A>C c.702A>C c.4742A>C (p.Glu1581Ala) c.4034-4179A>C (n.4034-4179A>C) c.3377A>C (p.Glu1126Ala) c.5291A>C (p.Glu1764Ala) c.3488-4179A>C (n.3488-4179A>C) c.5018A>C (p.Glu1673Ala) c.4472A>C (p.Glu1491Ala) c.4580-4179A>C (n.4580-4179A>C) c.4199A>C (p.Glu1400Ala) c.3761-4179A>C (n.3761-4179A>C) c.3650A>C (p.Glu1217Ala) c.5564A>C (p.Glu1855Ala) c.5288A>C (p.Glu1763Ala) | |
9 | g.115046521del | CA2691393497 | TNC | c.318-4180del c.3215-4180del (n.3215-4180del) c.3925del (p.Glu1309AsnfsTer6) c.1957del (p.Glu653AsnfsTer6) c.613del (p.Glu205AsnfsTer6) c.3972del c.5014del (p.Glu1672AsnfsTer6) c.4468del (p.Glu1490AsnfsTer6) c.4307-4180del (n.4307-4180del) n.332del n.253-4180del n.40-4180del c.701del c.4741del (p.Glu1581AsnfsTer6) c.4034-4180del (n.4034-4180del) c.3376del (p.Glu1126AsnfsTer6) c.5290del (p.Glu1764AsnfsTer6) c.3488-4180del (n.3488-4180del) c.5017del (p.Glu1673AsnfsTer6) c.4471del (p.Glu1491AsnfsTer6) c.4580-4180del (n.4580-4180del) c.4198del (p.Glu1400AsnfsTer6) c.3761-4180del (n.3761-4180del) c.3649del (p.Glu1217AsnfsTer6) c.5563del (p.Glu1855AsnfsTer6) c.5287del (p.Glu1763AsnfsTer6) | gnomAD v4 |
9 | g.115046521C>A | CA374630929 | TNC | c.318-4180G>T c.3215-4180G>T (n.3215-4180G>T) c.3925G>T (p.Glu1309Ter) c.1957G>T (p.Glu653Ter) c.613G>T (p.Glu205Ter) c.3972G>T c.5014G>T (p.Glu1672Ter) c.4468G>T (p.Glu1490Ter) c.4307-4180G>T (n.4307-4180G>T) n.332G>T n.253-4180G>T n.40-4180G>T c.701G>T c.4741G>T (p.Glu1581Ter) c.4034-4180G>T (n.4034-4180G>T) c.3376G>T (p.Glu1126Ter) c.5290G>T (p.Glu1764Ter) c.3488-4180G>T (n.3488-4180G>T) c.5017G>T (p.Glu1673Ter) c.4471G>T (p.Glu1491Ter) c.4580-4180G>T (n.4580-4180G>T) c.4198G>T (p.Glu1400Ter) c.3761-4180G>T (n.3761-4180G>T) c.3649G>T (p.Glu1217Ter) c.5563G>T (p.Glu1855Ter) c.5287G>T (p.Glu1763Ter) | gnomAD v4 |
9 | g.115046521C= | CA1874118900 | TNC | c.318-4180G= c.3215-4180G= (n.3215-4180G=) c.3925G= (p.Glu1309=) c.1957G= (p.Glu653=) c.613G= (p.Glu205=) c.3972G= c.5014G= (p.Glu1672=) c.4468G= (p.Glu1490=) c.4307-4180G= (n.4307-4180G=) n.332G= n.253-4180G= n.40-4180G= c.701G= c.4741G= (p.Glu1581=) c.4034-4180G= (n.4034-4180G=) c.3376G= (p.Glu1126=) c.5290G= (p.Glu1764=) c.3488-4180G= (n.3488-4180G=) c.5017G= (p.Glu1673=) c.4471G= (p.Glu1491=) c.4580-4180G= (n.4580-4180G=) c.4198G= (p.Glu1400=) c.3761-4180G= (n.3761-4180G=) c.3649G= (p.Glu1217=) c.5563G= (p.Glu1855=) c.5287G= (p.Glu1763=) | |
9 | g.115046521C>G | CA374630931 | TNC | c.318-4180G>C c.3215-4180G>C (n.3215-4180G>C) c.3925G>C (p.Glu1309Gln) c.1957G>C (p.Glu653Gln) c.613G>C (p.Glu205Gln) c.3972G>C c.5014G>C (p.Glu1672Gln) c.4468G>C (p.Glu1490Gln) c.4307-4180G>C (n.4307-4180G>C) n.332G>C n.253-4180G>C n.40-4180G>C c.701G>C c.4741G>C (p.Glu1581Gln) c.4034-4180G>C (n.4034-4180G>C) c.3376G>C (p.Glu1126Gln) c.5290G>C (p.Glu1764Gln) c.3488-4180G>C (n.3488-4180G>C) c.5017G>C (p.Glu1673Gln) c.4471G>C (p.Glu1491Gln) c.4580-4180G>C (n.4580-4180G>C) c.4198G>C (p.Glu1400Gln) c.3761-4180G>C (n.3761-4180G>C) c.3649G>C (p.Glu1217Gln) c.5563G>C (p.Glu1855Gln) c.5287G>C (p.Glu1763Gln) | |
9 | g.115046521C>T | CA374630930 | TNC | c.318-4180G>A c.3215-4180G>A (n.3215-4180G>A) c.3925G>A (p.Glu1309Lys) c.1957G>A (p.Glu653Lys) c.613G>A (p.Glu205Lys) c.3972G>A c.5014G>A (p.Glu1672Lys) c.4468G>A (p.Glu1490Lys) c.4307-4180G>A (n.4307-4180G>A) n.332G>A n.253-4180G>A n.40-4180G>A c.701G>A c.4741G>A (p.Glu1581Lys) c.4034-4180G>A (n.4034-4180G>A) c.3376G>A (p.Glu1126Lys) c.5290G>A (p.Glu1764Lys) c.3488-4180G>A (n.3488-4180G>A) c.5017G>A (p.Glu1673Lys) c.4471G>A (p.Glu1491Lys) c.4580-4180G>A (n.4580-4180G>A) c.4198G>A (p.Glu1400Lys) c.3761-4180G>A (n.3761-4180G>A) c.3649G>A (p.Glu1217Lys) c.5563G>A (p.Glu1855Lys) c.5287G>A (p.Glu1763Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046522G>A | CA466912437 | TNC | c.318-4181C>T c.3215-4181C>T (n.3215-4181C>T) c.3924C>T (p.Pro1308=) c.1956C>T (p.Pro652=) c.612C>T (p.Pro204=) c.3971C>T c.5013C>T (p.Pro1671=) c.4467C>T (p.Pro1489=) c.4307-4181C>T (n.4307-4181C>T) n.331C>T n.253-4181C>T n.40-4181C>T c.700C>T c.4740C>T (p.Pro1580=) c.4034-4181C>T (n.4034-4181C>T) c.3375C>T (p.Pro1125=) c.5289C>T (p.Pro1763=) c.3488-4181C>T (n.3488-4181C>T) c.5016C>T (p.Pro1672=) c.4470C>T (p.Pro1490=) c.4580-4181C>T (n.4580-4181C>T) c.4197C>T (p.Pro1399=) c.3761-4181C>T (n.3761-4181C>T) c.3648C>T (p.Pro1216=) c.5562C>T (p.Pro1854=) c.5286C>T (p.Pro1762=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046522G>C | CA466912438 | TNC | c.318-4181C>G c.3215-4181C>G (n.3215-4181C>G) c.3924C>G (p.Pro1308=) c.1956C>G (p.Pro652=) c.612C>G (p.Pro204=) c.3971C>G c.5013C>G (p.Pro1671=) c.4467C>G (p.Pro1489=) c.4307-4181C>G (n.4307-4181C>G) n.331C>G n.253-4181C>G n.40-4181C>G c.700C>G c.4740C>G (p.Pro1580=) c.4034-4181C>G (n.4034-4181C>G) c.3375C>G (p.Pro1125=) c.5289C>G (p.Pro1763=) c.3488-4181C>G (n.3488-4181C>G) c.5016C>G (p.Pro1672=) c.4470C>G (p.Pro1490=) c.4580-4181C>G (n.4580-4181C>G) c.4197C>G (p.Pro1399=) c.3761-4181C>G (n.3761-4181C>G) c.3648C>G (p.Pro1216=) c.5562C>G (p.Pro1854=) c.5286C>G (p.Pro1762=) | gnomAD v4 |
9 | g.115046522G= | CA1874118901 | TNC | c.318-4181C= c.3215-4181C= (n.3215-4181C=) c.3924C= (p.Pro1308=) c.1956C= (p.Pro652=) c.612C= (p.Pro204=) c.3971C= c.5013C= (p.Pro1671=) c.4467C= (p.Pro1489=) c.4307-4181C= (n.4307-4181C=) n.331C= n.253-4181C= n.40-4181C= c.700C= c.4740C= (p.Pro1580=) c.4034-4181C= (n.4034-4181C=) c.3375C= (p.Pro1125=) c.5289C= (p.Pro1763=) c.3488-4181C= (n.3488-4181C=) c.5016C= (p.Pro1672=) c.4470C= (p.Pro1490=) c.4580-4181C= (n.4580-4181C=) c.4197C= (p.Pro1399=) c.3761-4181C= (n.3761-4181C=) c.3648C= (p.Pro1216=) c.5562C= (p.Pro1854=) c.5286C= (p.Pro1762=) | |
9 | g.115046522G>T | CA5207772 | TNC | c.318-4181C>A c.3215-4181C>A (n.3215-4181C>A) c.3924C>A (p.Pro1308=) c.1956C>A (p.Pro652=) c.612C>A (p.Pro204=) c.3971C>A c.5013C>A (p.Pro1671=) c.4467C>A (p.Pro1489=) c.4307-4181C>A (n.4307-4181C>A) n.331C>A n.253-4181C>A n.40-4181C>A c.700C>A c.4740C>A (p.Pro1580=) c.4034-4181C>A (n.4034-4181C>A) c.3375C>A (p.Pro1125=) c.5289C>A (p.Pro1763=) c.3488-4181C>A (n.3488-4181C>A) c.5016C>A (p.Pro1672=) c.4470C>A (p.Pro1490=) c.4580-4181C>A (n.4580-4181C>A) c.4197C>A (p.Pro1399=) c.3761-4181C>A (n.3761-4181C>A) c.3648C>A (p.Pro1216=) c.5562C>A (p.Pro1854=) c.5286C>A (p.Pro1762=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046526dup | CA658773192 | TNC | c.318-4181dup c.3215-4181dup (n.3215-4181dup) c.3924dup (p.Glu1309ArgfsTer14) c.1956dup (p.Glu653ArgfsTer14) c.612dup (p.Glu205ArgfsTer14) c.3971dup c.5013dup (p.Glu1672ArgfsTer14) c.4467dup (p.Glu1490ArgfsTer14) c.4307-4181dup (n.4307-4181dup) n.331dup n.253-4181dup n.40-4181dup c.700dup c.4740dup (p.Glu1581ArgfsTer14) c.4034-4181dup (n.4034-4181dup) c.3375dup (p.Glu1126ArgfsTer14) c.5289dup (p.Glu1764ArgfsTer14) c.3488-4181dup (n.3488-4181dup) c.5016dup (p.Glu1673ArgfsTer14) c.4470dup (p.Glu1491ArgfsTer14) c.4580-4181dup (n.4580-4181dup) c.4197dup (p.Glu1400ArgfsTer14) c.3761-4181dup (n.3761-4181dup) c.3648dup (p.Glu1217ArgfsTer14) c.5562dup (p.Glu1855ArgfsTer14) c.5286dup (p.Glu1763ArgfsTer14) | |
9 | g.115046523G>A | CA374630934 | TNC | c.318-4182C>T c.3215-4182C>T (n.3215-4182C>T) c.3923C>T (p.Pro1308Leu) c.1955C>T (p.Pro652Leu) c.611C>T (p.Pro204Leu) c.3970C>T c.5012C>T (p.Pro1671Leu) c.4466C>T (p.Pro1489Leu) c.4307-4182C>T (n.4307-4182C>T) n.330C>T n.253-4182C>T n.40-4182C>T c.699C>T c.4739C>T (p.Pro1580Leu) c.4034-4182C>T (n.4034-4182C>T) c.3374C>T (p.Pro1125Leu) c.5288C>T (p.Pro1763Leu) c.3488-4182C>T (n.3488-4182C>T) c.5015C>T (p.Pro1672Leu) c.4469C>T (p.Pro1490Leu) c.4580-4182C>T (n.4580-4182C>T) c.4196C>T (p.Pro1399Leu) c.3761-4182C>T (n.3761-4182C>T) c.3647C>T (p.Pro1216Leu) c.5561C>T (p.Pro1854Leu) c.5285C>T (p.Pro1762Leu) | |
9 | g.115046523G>C | CA374630935 | TNC | c.318-4182C>G c.3215-4182C>G (n.3215-4182C>G) c.3923C>G (p.Pro1308Arg) c.1955C>G (p.Pro652Arg) c.611C>G (p.Pro204Arg) c.3970C>G c.5012C>G (p.Pro1671Arg) c.4466C>G (p.Pro1489Arg) c.4307-4182C>G (n.4307-4182C>G) n.330C>G n.253-4182C>G n.40-4182C>G c.699C>G c.4739C>G (p.Pro1580Arg) c.4034-4182C>G (n.4034-4182C>G) c.3374C>G (p.Pro1125Arg) c.5288C>G (p.Pro1763Arg) c.3488-4182C>G (n.3488-4182C>G) c.5015C>G (p.Pro1672Arg) c.4469C>G (p.Pro1490Arg) c.4580-4182C>G (n.4580-4182C>G) c.4196C>G (p.Pro1399Arg) c.3761-4182C>G (n.3761-4182C>G) c.3647C>G (p.Pro1216Arg) c.5561C>G (p.Pro1854Arg) c.5285C>G (p.Pro1762Arg) | |
9 | g.115046523G>T | CA374630937 | TNC | c.318-4182C>A c.3215-4182C>A (n.3215-4182C>A) c.3923C>A (p.Pro1308His) c.1955C>A (p.Pro652His) c.611C>A (p.Pro204His) c.3970C>A c.5012C>A (p.Pro1671His) c.4466C>A (p.Pro1489His) c.4307-4182C>A (n.4307-4182C>A) n.330C>A n.253-4182C>A n.40-4182C>A c.699C>A c.4739C>A (p.Pro1580His) c.4034-4182C>A (n.4034-4182C>A) c.3374C>A (p.Pro1125His) c.5288C>A (p.Pro1763His) c.3488-4182C>A (n.3488-4182C>A) c.5015C>A (p.Pro1672His) c.4469C>A (p.Pro1490His) c.4580-4182C>A (n.4580-4182C>A) c.4196C>A (p.Pro1399His) c.3761-4182C>A (n.3761-4182C>A) c.3647C>A (p.Pro1216His) c.5561C>A (p.Pro1854His) c.5285C>A (p.Pro1762His) | |
9 | g.115046524G>A | CA374630938 | TNC | c.318-4183C>T c.3215-4183C>T (n.3215-4183C>T) c.3922C>T (p.Pro1308Ser) c.1954C>T (p.Pro652Ser) c.610C>T (p.Pro204Ser) c.3969C>T c.5011C>T (p.Pro1671Ser) c.4465C>T (p.Pro1489Ser) c.4307-4183C>T (n.4307-4183C>T) n.329C>T n.253-4183C>T n.40-4183C>T c.698C>T c.4738C>T (p.Pro1580Ser) c.4034-4183C>T (n.4034-4183C>T) c.3373C>T (p.Pro1125Ser) c.5287C>T (p.Pro1763Ser) c.3488-4183C>T (n.3488-4183C>T) c.5014C>T (p.Pro1672Ser) c.4468C>T (p.Pro1490Ser) c.4580-4183C>T (n.4580-4183C>T) c.4195C>T (p.Pro1399Ser) c.3761-4183C>T (n.3761-4183C>T) c.3646C>T (p.Pro1216Ser) c.5560C>T (p.Pro1854Ser) c.5284C>T (p.Pro1762Ser) | gnomAD v4 |
9 | g.115046524G>C | CA374630942 | TNC | c.318-4183C>G c.3215-4183C>G (n.3215-4183C>G) c.3922C>G (p.Pro1308Ala) c.1954C>G (p.Pro652Ala) c.610C>G (p.Pro204Ala) c.3969C>G c.5011C>G (p.Pro1671Ala) c.4465C>G (p.Pro1489Ala) c.4307-4183C>G (n.4307-4183C>G) n.329C>G n.253-4183C>G n.40-4183C>G c.698C>G c.4738C>G (p.Pro1580Ala) c.4034-4183C>G (n.4034-4183C>G) c.3373C>G (p.Pro1125Ala) c.5287C>G (p.Pro1763Ala) c.3488-4183C>G (n.3488-4183C>G) c.5014C>G (p.Pro1672Ala) c.4468C>G (p.Pro1490Ala) c.4580-4183C>G (n.4580-4183C>G) c.4195C>G (p.Pro1399Ala) c.3761-4183C>G (n.3761-4183C>G) c.3646C>G (p.Pro1216Ala) c.5560C>G (p.Pro1854Ala) c.5284C>G (p.Pro1762Ala) | |
9 | g.115046524G>T | CA374630940 | TNC | c.318-4183C>A c.3215-4183C>A (n.3215-4183C>A) c.3922C>A (p.Pro1308Thr) c.1954C>A (p.Pro652Thr) c.610C>A (p.Pro204Thr) c.3969C>A c.5011C>A (p.Pro1671Thr) c.4465C>A (p.Pro1489Thr) c.4307-4183C>A (n.4307-4183C>A) n.329C>A n.253-4183C>A n.40-4183C>A c.698C>A c.4738C>A (p.Pro1580Thr) c.4034-4183C>A (n.4034-4183C>A) c.3373C>A (p.Pro1125Thr) c.5287C>A (p.Pro1763Thr) c.3488-4183C>A (n.3488-4183C>A) c.5014C>A (p.Pro1672Thr) c.4468C>A (p.Pro1490Thr) c.4580-4183C>A (n.4580-4183C>A) c.4195C>A (p.Pro1399Thr) c.3761-4183C>A (n.3761-4183C>A) c.3646C>A (p.Pro1216Thr) c.5560C>A (p.Pro1854Thr) c.5284C>A (p.Pro1762Thr) | |
9 | g.115046525G>A | CA466912440 | TNC | c.318-4184C>T c.3215-4184C>T (n.3215-4184C>T) c.3921C>T (p.Ala1307=) c.1953C>T (p.Ala651=) c.609C>T (p.Ala203=) c.3968C>T c.5010C>T (p.Ala1670=) c.4464C>T (p.Ala1488=) c.4307-4184C>T (n.4307-4184C>T) n.328C>T n.253-4184C>T n.40-4184C>T c.697C>T c.4737C>T (p.Ala1579=) c.4034-4184C>T (n.4034-4184C>T) c.3372C>T (p.Ala1124=) c.5286C>T (p.Ala1762=) c.3488-4184C>T (n.3488-4184C>T) c.5013C>T (p.Ala1671=) c.4467C>T (p.Ala1489=) c.4580-4184C>T (n.4580-4184C>T) c.4194C>T (p.Ala1398=) c.3761-4184C>T (n.3761-4184C>T) c.3645C>T (p.Ala1215=) c.5559C>T (p.Ala1853=) c.5283C>T (p.Ala1761=) | gnomAD v4 |
9 | g.115046525G>C | CA466912441 | TNC | c.318-4184C>G c.3215-4184C>G (n.3215-4184C>G) c.3921C>G (p.Ala1307=) c.1953C>G (p.Ala651=) c.609C>G (p.Ala203=) c.3968C>G c.5010C>G (p.Ala1670=) c.4464C>G (p.Ala1488=) c.4307-4184C>G (n.4307-4184C>G) n.328C>G n.253-4184C>G n.40-4184C>G c.697C>G c.4737C>G (p.Ala1579=) c.4034-4184C>G (n.4034-4184C>G) c.3372C>G (p.Ala1124=) c.5286C>G (p.Ala1762=) c.3488-4184C>G (n.3488-4184C>G) c.5013C>G (p.Ala1671=) c.4467C>G (p.Ala1489=) c.4580-4184C>G (n.4580-4184C>G) c.4194C>G (p.Ala1398=) c.3761-4184C>G (n.3761-4184C>G) c.3645C>G (p.Ala1215=) c.5559C>G (p.Ala1853=) c.5283C>G (p.Ala1761=) | |
9 | g.115046525G>T | CA466912442 | TNC | c.318-4184C>A c.3215-4184C>A (n.3215-4184C>A) c.3921C>A (p.Ala1307=) c.1953C>A (p.Ala651=) c.609C>A (p.Ala203=) c.3968C>A c.5010C>A (p.Ala1670=) c.4464C>A (p.Ala1488=) c.4307-4184C>A (n.4307-4184C>A) n.328C>A n.253-4184C>A n.40-4184C>A c.697C>A c.4737C>A (p.Ala1579=) c.4034-4184C>A (n.4034-4184C>A) c.3372C>A (p.Ala1124=) c.5286C>A (p.Ala1762=) c.3488-4184C>A (n.3488-4184C>A) c.5013C>A (p.Ala1671=) c.4467C>A (p.Ala1489=) c.4580-4184C>A (n.4580-4184C>A) c.4194C>A (p.Ala1398=) c.3761-4184C>A (n.3761-4184C>A) c.3645C>A (p.Ala1215=) c.5559C>A (p.Ala1853=) c.5283C>A (p.Ala1761=) | |
9 | g.115046526G>A | CA374630944 | TNC | c.318-4185C>T c.3215-4185C>T (n.3215-4185C>T) c.3920C>T (p.Ala1307Val) c.1952C>T (p.Ala651Val) c.608C>T (p.Ala203Val) c.3967C>T c.5009C>T (p.Ala1670Val) c.4463C>T (p.Ala1488Val) c.4307-4185C>T (n.4307-4185C>T) n.327C>T n.253-4185C>T n.40-4185C>T c.696C>T c.4736C>T (p.Ala1579Val) c.4034-4185C>T (n.4034-4185C>T) c.3371C>T (p.Ala1124Val) c.5285C>T (p.Ala1762Val) c.3488-4185C>T (n.3488-4185C>T) c.5012C>T (p.Ala1671Val) c.4466C>T (p.Ala1489Val) c.4580-4185C>T (n.4580-4185C>T) c.4193C>T (p.Ala1398Val) c.3761-4185C>T (n.3761-4185C>T) c.3644C>T (p.Ala1215Val) c.5558C>T (p.Ala1853Val) c.5282C>T (p.Ala1761Val) | dbSNP gnomAD v4 |
9 | g.115046526G>C | CA374630945 | TNC | c.318-4185C>G c.3215-4185C>G (n.3215-4185C>G) c.3920C>G (p.Ala1307Gly) c.1952C>G (p.Ala651Gly) c.608C>G (p.Ala203Gly) c.3967C>G c.5009C>G (p.Ala1670Gly) c.4463C>G (p.Ala1488Gly) c.4307-4185C>G (n.4307-4185C>G) n.327C>G n.253-4185C>G n.40-4185C>G c.696C>G c.4736C>G (p.Ala1579Gly) c.4034-4185C>G (n.4034-4185C>G) c.3371C>G (p.Ala1124Gly) c.5285C>G (p.Ala1762Gly) c.3488-4185C>G (n.3488-4185C>G) c.5012C>G (p.Ala1671Gly) c.4466C>G (p.Ala1489Gly) c.4580-4185C>G (n.4580-4185C>G) c.4193C>G (p.Ala1398Gly) c.3761-4185C>G (n.3761-4185C>G) c.3644C>G (p.Ala1215Gly) c.5558C>G (p.Ala1853Gly) c.5282C>G (p.Ala1761Gly) | |
9 | g.115046526G= | CA1874118902 | TNC | c.318-4185C= c.3215-4185C= (n.3215-4185C=) c.3920C= (p.Ala1307=) c.1952C= (p.Ala651=) c.608C= (p.Ala203=) c.3967C= c.5009C= (p.Ala1670=) c.4463C= (p.Ala1488=) c.4307-4185C= (n.4307-4185C=) n.327C= n.253-4185C= n.40-4185C= c.696C= c.4736C= (p.Ala1579=) c.4034-4185C= (n.4034-4185C=) c.3371C= (p.Ala1124=) c.5285C= (p.Ala1762=) c.3488-4185C= (n.3488-4185C=) c.5012C= (p.Ala1671=) c.4466C= (p.Ala1489=) c.4580-4185C= (n.4580-4185C=) c.4193C= (p.Ala1398=) c.3761-4185C= (n.3761-4185C=) c.3644C= (p.Ala1215=) c.5558C= (p.Ala1853=) c.5282C= (p.Ala1761=) | |
9 | g.115046526G>T | CA374630946 | TNC | c.318-4185C>A c.3215-4185C>A (n.3215-4185C>A) c.3920C>A (p.Ala1307Asp) c.1952C>A (p.Ala651Asp) c.608C>A (p.Ala203Asp) c.3967C>A c.5009C>A (p.Ala1670Asp) c.4463C>A (p.Ala1488Asp) c.4307-4185C>A (n.4307-4185C>A) n.327C>A n.253-4185C>A n.40-4185C>A c.696C>A c.4736C>A (p.Ala1579Asp) c.4034-4185C>A (n.4034-4185C>A) c.3371C>A (p.Ala1124Asp) c.5285C>A (p.Ala1762Asp) c.3488-4185C>A (n.3488-4185C>A) c.5012C>A (p.Ala1671Asp) c.4466C>A (p.Ala1489Asp) c.4580-4185C>A (n.4580-4185C>A) c.4193C>A (p.Ala1398Asp) c.3761-4185C>A (n.3761-4185C>A) c.3644C>A (p.Ala1215Asp) c.5558C>A (p.Ala1853Asp) c.5282C>A (p.Ala1761Asp) | |
9 | g.115046527C>A | CA374630948 | TNC | c.318-4186G>T c.3215-4186G>T (n.3215-4186G>T) c.3919G>T (p.Ala1307Ser) c.1951G>T (p.Ala651Ser) c.607G>T (p.Ala203Ser) c.3966G>T c.5008G>T (p.Ala1670Ser) c.4462G>T (p.Ala1488Ser) c.4307-4186G>T (n.4307-4186G>T) n.326G>T n.253-4186G>T n.40-4186G>T c.695G>T c.4735G>T (p.Ala1579Ser) c.4034-4186G>T (n.4034-4186G>T) c.3370G>T (p.Ala1124Ser) c.5284G>T (p.Ala1762Ser) c.3488-4186G>T (n.3488-4186G>T) c.5011G>T (p.Ala1671Ser) c.4465G>T (p.Ala1489Ser) c.4580-4186G>T (n.4580-4186G>T) c.4192G>T (p.Ala1398Ser) c.3761-4186G>T (n.3761-4186G>T) c.3643G>T (p.Ala1215Ser) c.5557G>T (p.Ala1853Ser) c.5281G>T (p.Ala1761Ser) | |
9 | g.115046527C= | CA1874118903 | TNC | c.318-4186G= c.3215-4186G= (n.3215-4186G=) c.3919G= (p.Ala1307=) c.1951G= (p.Ala651=) c.607G= (p.Ala203=) c.3966G= c.5008G= (p.Ala1670=) c.4462G= (p.Ala1488=) c.4307-4186G= (n.4307-4186G=) n.326G= n.253-4186G= n.40-4186G= c.695G= c.4735G= (p.Ala1579=) c.4034-4186G= (n.4034-4186G=) c.3370G= (p.Ala1124=) c.5284G= (p.Ala1762=) c.3488-4186G= (n.3488-4186G=) c.5011G= (p.Ala1671=) c.4465G= (p.Ala1489=) c.4580-4186G= (n.4580-4186G=) c.4192G= (p.Ala1398=) c.3761-4186G= (n.3761-4186G=) c.3643G= (p.Ala1215=) c.5557G= (p.Ala1853=) c.5281G= (p.Ala1761=) | |
9 | g.115046527C>G | CA374630950 | TNC | c.318-4186G>C c.3215-4186G>C (n.3215-4186G>C) c.3919G>C (p.Ala1307Pro) c.1951G>C (p.Ala651Pro) c.607G>C (p.Ala203Pro) c.3966G>C c.5008G>C (p.Ala1670Pro) c.4462G>C (p.Ala1488Pro) c.4307-4186G>C (n.4307-4186G>C) n.326G>C n.253-4186G>C n.40-4186G>C c.695G>C c.4735G>C (p.Ala1579Pro) c.4034-4186G>C (n.4034-4186G>C) c.3370G>C (p.Ala1124Pro) c.5284G>C (p.Ala1762Pro) c.3488-4186G>C (n.3488-4186G>C) c.5011G>C (p.Ala1671Pro) c.4465G>C (p.Ala1489Pro) c.4580-4186G>C (n.4580-4186G>C) c.4192G>C (p.Ala1398Pro) c.3761-4186G>C (n.3761-4186G>C) c.3643G>C (p.Ala1215Pro) c.5557G>C (p.Ala1853Pro) c.5281G>C (p.Ala1761Pro) | |
9 | g.115046527C>T | CA5207773 | TNC | c.318-4186G>A c.3215-4186G>A (n.3215-4186G>A) c.3919G>A (p.Ala1307Thr) c.1951G>A (p.Ala651Thr) c.607G>A (p.Ala203Thr) c.3966G>A c.5008G>A (p.Ala1670Thr) c.4462G>A (p.Ala1488Thr) c.4307-4186G>A (n.4307-4186G>A) n.326G>A n.253-4186G>A n.40-4186G>A c.695G>A c.4735G>A (p.Ala1579Thr) c.4034-4186G>A (n.4034-4186G>A) c.3370G>A (p.Ala1124Thr) c.5284G>A (p.Ala1762Thr) c.3488-4186G>A (n.3488-4186G>A) c.5011G>A (p.Ala1671Thr) c.4465G>A (p.Ala1489Thr) c.4580-4186G>A (n.4580-4186G>A) c.4192G>A (p.Ala1398Thr) c.3761-4186G>A (n.3761-4186G>A) c.3643G>A (p.Ala1215Thr) c.5557G>A (p.Ala1853Thr) c.5281G>A (p.Ala1761Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046528A>C | CA466912444 | TNC | c.318-4187T>G c.3215-4187T>G (n.3215-4187T>G) c.3918T>G (p.Leu1306=) c.1950T>G (p.Leu650=) c.606T>G (p.Leu202=) c.3965T>G c.5007T>G (p.Leu1669=) c.4461T>G (p.Leu1487=) c.4307-4187T>G (n.4307-4187T>G) n.325T>G n.253-4187T>G n.40-4187T>G c.694T>G c.4734T>G (p.Leu1578=) c.4034-4187T>G (n.4034-4187T>G) c.3369T>G (p.Leu1123=) c.5283T>G (p.Leu1761=) c.3488-4187T>G (n.3488-4187T>G) c.5010T>G (p.Leu1670=) c.4464T>G (p.Leu1488=) c.4580-4187T>G (n.4580-4187T>G) c.4191T>G (p.Leu1397=) c.3761-4187T>G (n.3761-4187T>G) c.3642T>G (p.Leu1214=) c.5556T>G (p.Leu1852=) c.5280T>G (p.Leu1760=) | |
9 | g.115046528A>G | CA466912445 | TNC | c.318-4187T>C c.3215-4187T>C (n.3215-4187T>C) c.3918T>C (p.Leu1306=) c.1950T>C (p.Leu650=) c.606T>C (p.Leu202=) c.3965T>C c.5007T>C (p.Leu1669=) c.4461T>C (p.Leu1487=) c.4307-4187T>C (n.4307-4187T>C) n.325T>C n.253-4187T>C n.40-4187T>C c.694T>C c.4734T>C (p.Leu1578=) c.4034-4187T>C (n.4034-4187T>C) c.3369T>C (p.Leu1123=) c.5283T>C (p.Leu1761=) c.3488-4187T>C (n.3488-4187T>C) c.5010T>C (p.Leu1670=) c.4464T>C (p.Leu1488=) c.4580-4187T>C (n.4580-4187T>C) c.4191T>C (p.Leu1397=) c.3761-4187T>C (n.3761-4187T>C) c.3642T>C (p.Leu1214=) c.5556T>C (p.Leu1852=) c.5280T>C (p.Leu1760=) | |
9 | g.115046528A>T | CA466912446 | TNC | c.318-4187T>A c.3215-4187T>A (n.3215-4187T>A) c.3918T>A (p.Leu1306=) c.1950T>A (p.Leu650=) c.606T>A (p.Leu202=) c.3965T>A c.5007T>A (p.Leu1669=) c.4461T>A (p.Leu1487=) c.4307-4187T>A (n.4307-4187T>A) n.325T>A n.253-4187T>A n.40-4187T>A c.694T>A c.4734T>A (p.Leu1578=) c.4034-4187T>A (n.4034-4187T>A) c.3369T>A (p.Leu1123=) c.5283T>A (p.Leu1761=) c.3488-4187T>A (n.3488-4187T>A) c.5010T>A (p.Leu1670=) c.4464T>A (p.Leu1488=) c.4580-4187T>A (n.4580-4187T>A) c.4191T>A (p.Leu1397=) c.3761-4187T>A (n.3761-4187T>A) c.3642T>A (p.Leu1214=) c.5556T>A (p.Leu1852=) c.5280T>A (p.Leu1760=) | |
9 | g.115046529A>C | CA374630952 | TNC | c.318-4188T>G c.3215-4188T>G (n.3215-4188T>G) c.3917T>G (p.Leu1306Arg) c.1949T>G (p.Leu650Arg) c.605T>G (p.Leu202Arg) c.3964T>G c.5006T>G (p.Leu1669Arg) c.4460T>G (p.Leu1487Arg) c.4307-4188T>G (n.4307-4188T>G) n.324T>G n.253-4188T>G n.40-4188T>G c.693T>G c.4733T>G (p.Leu1578Arg) c.4034-4188T>G (n.4034-4188T>G) c.3368T>G (p.Leu1123Arg) c.5282T>G (p.Leu1761Arg) c.3488-4188T>G (n.3488-4188T>G) c.5009T>G (p.Leu1670Arg) c.4463T>G (p.Leu1488Arg) c.4580-4188T>G (n.4580-4188T>G) c.4190T>G (p.Leu1397Arg) c.3761-4188T>G (n.3761-4188T>G) c.3641T>G (p.Leu1214Arg) c.5555T>G (p.Leu1852Arg) c.5279T>G (p.Leu1760Arg) | |
9 | g.115046529A>G | CA374630954 | TNC | c.318-4188T>C c.3215-4188T>C (n.3215-4188T>C) c.3917T>C (p.Leu1306Pro) c.1949T>C (p.Leu650Pro) c.605T>C (p.Leu202Pro) c.3964T>C c.5006T>C (p.Leu1669Pro) c.4460T>C (p.Leu1487Pro) c.4307-4188T>C (n.4307-4188T>C) n.324T>C n.253-4188T>C n.40-4188T>C c.693T>C c.4733T>C (p.Leu1578Pro) c.4034-4188T>C (n.4034-4188T>C) c.3368T>C (p.Leu1123Pro) c.5282T>C (p.Leu1761Pro) c.3488-4188T>C (n.3488-4188T>C) c.5009T>C (p.Leu1670Pro) c.4463T>C (p.Leu1488Pro) c.4580-4188T>C (n.4580-4188T>C) c.4190T>C (p.Leu1397Pro) c.3761-4188T>C (n.3761-4188T>C) c.3641T>C (p.Leu1214Pro) c.5555T>C (p.Leu1852Pro) c.5279T>C (p.Leu1760Pro) | |
9 | g.115046529A>T | CA374630955 | TNC | c.318-4188T>A c.3215-4188T>A (n.3215-4188T>A) c.3917T>A (p.Leu1306His) c.1949T>A (p.Leu650His) c.605T>A (p.Leu202His) c.3964T>A c.5006T>A (p.Leu1669His) c.4460T>A (p.Leu1487His) c.4307-4188T>A (n.4307-4188T>A) n.324T>A n.253-4188T>A n.40-4188T>A c.693T>A c.4733T>A (p.Leu1578His) c.4034-4188T>A (n.4034-4188T>A) c.3368T>A (p.Leu1123His) c.5282T>A (p.Leu1761His) c.3488-4188T>A (n.3488-4188T>A) c.5009T>A (p.Leu1670His) c.4463T>A (p.Leu1488His) c.4580-4188T>A (n.4580-4188T>A) c.4190T>A (p.Leu1397His) c.3761-4188T>A (n.3761-4188T>A) c.3641T>A (p.Leu1214His) c.5555T>A (p.Leu1852His) c.5279T>A (p.Leu1760His) | |
9 | g.115046530G>A | CA374630957 | TNC | c.318-4189C>T c.3215-4189C>T (n.3215-4189C>T) c.3916C>T (p.Leu1306Phe) c.1948C>T (p.Leu650Phe) c.604C>T (p.Leu202Phe) c.3963C>T c.5005C>T (p.Leu1669Phe) c.4459C>T (p.Leu1487Phe) c.4307-4189C>T (n.4307-4189C>T) n.323C>T n.253-4189C>T n.40-4189C>T c.692C>T c.4732C>T (p.Leu1578Phe) c.4034-4189C>T (n.4034-4189C>T) c.3367C>T (p.Leu1123Phe) c.5281C>T (p.Leu1761Phe) c.3488-4189C>T (n.3488-4189C>T) c.5008C>T (p.Leu1670Phe) c.4462C>T (p.Leu1488Phe) c.4580-4189C>T (n.4580-4189C>T) c.4189C>T (p.Leu1397Phe) c.3761-4189C>T (n.3761-4189C>T) c.3640C>T (p.Leu1214Phe) c.5554C>T (p.Leu1852Phe) c.5278C>T (p.Leu1760Phe) | |
9 | g.115046530G>C | CA374630959 | TNC | c.318-4189C>G c.3215-4189C>G (n.3215-4189C>G) c.3916C>G (p.Leu1306Val) c.1948C>G (p.Leu650Val) c.604C>G (p.Leu202Val) c.3963C>G c.5005C>G (p.Leu1669Val) c.4459C>G (p.Leu1487Val) c.4307-4189C>G (n.4307-4189C>G) n.323C>G n.253-4189C>G n.40-4189C>G c.692C>G c.4732C>G (p.Leu1578Val) c.4034-4189C>G (n.4034-4189C>G) c.3367C>G (p.Leu1123Val) c.5281C>G (p.Leu1761Val) c.3488-4189C>G (n.3488-4189C>G) c.5008C>G (p.Leu1670Val) c.4462C>G (p.Leu1488Val) c.4580-4189C>G (n.4580-4189C>G) c.4189C>G (p.Leu1397Val) c.3761-4189C>G (n.3761-4189C>G) c.3640C>G (p.Leu1214Val) c.5554C>G (p.Leu1852Val) c.5278C>G (p.Leu1760Val) | |
9 | g.115046530G>T | CA374630960 | TNC | c.318-4189C>A c.3215-4189C>A (n.3215-4189C>A) c.3916C>A (p.Leu1306Ile) c.1948C>A (p.Leu650Ile) c.604C>A (p.Leu202Ile) c.3963C>A c.5005C>A (p.Leu1669Ile) c.4459C>A (p.Leu1487Ile) c.4307-4189C>A (n.4307-4189C>A) n.323C>A n.253-4189C>A n.40-4189C>A c.692C>A c.4732C>A (p.Leu1578Ile) c.4034-4189C>A (n.4034-4189C>A) c.3367C>A (p.Leu1123Ile) c.5281C>A (p.Leu1761Ile) c.3488-4189C>A (n.3488-4189C>A) c.5008C>A (p.Leu1670Ile) c.4462C>A (p.Leu1488Ile) c.4580-4189C>A (n.4580-4189C>A) c.4189C>A (p.Leu1397Ile) c.3761-4189C>A (n.3761-4189C>A) c.3640C>A (p.Leu1214Ile) c.5554C>A (p.Leu1852Ile) c.5278C>A (p.Leu1760Ile) | |
9 | g.115046531T>A | CA466912448 | TNC | c.318-4190A>T c.3215-4190A>T (n.3215-4190A>T) c.3915A>T (p.Leu1305=) c.1947A>T (p.Leu649=) c.603A>T (p.Leu201=) c.3962A>T c.5004A>T (p.Leu1668=) c.4458A>T (p.Leu1486=) c.4307-4190A>T (n.4307-4190A>T) n.322A>T n.253-4190A>T n.40-4190A>T c.691A>T c.4731A>T (p.Leu1577=) c.4034-4190A>T (n.4034-4190A>T) c.3366A>T (p.Leu1122=) c.5280A>T (p.Leu1760=) c.3488-4190A>T (n.3488-4190A>T) c.5007A>T (p.Leu1669=) c.4461A>T (p.Leu1487=) c.4580-4190A>T (n.4580-4190A>T) c.4188A>T (p.Leu1396=) c.3761-4190A>T (n.3761-4190A>T) c.3639A>T (p.Leu1213=) c.5553A>T (p.Leu1851=) c.5277A>T (p.Leu1759=) | |
9 | g.115046531T>C | CA466912451 | TNC | c.318-4190A>G c.3215-4190A>G (n.3215-4190A>G) c.3915A>G (p.Leu1305=) c.1947A>G (p.Leu649=) c.603A>G (p.Leu201=) c.3962A>G c.5004A>G (p.Leu1668=) c.4458A>G (p.Leu1486=) c.4307-4190A>G (n.4307-4190A>G) n.322A>G n.253-4190A>G n.40-4190A>G c.691A>G c.4731A>G (p.Leu1577=) c.4034-4190A>G (n.4034-4190A>G) c.3366A>G (p.Leu1122=) c.5280A>G (p.Leu1760=) c.3488-4190A>G (n.3488-4190A>G) c.5007A>G (p.Leu1669=) c.4461A>G (p.Leu1487=) c.4580-4190A>G (n.4580-4190A>G) c.4188A>G (p.Leu1396=) c.3761-4190A>G (n.3761-4190A>G) c.3639A>G (p.Leu1213=) c.5553A>G (p.Leu1851=) c.5277A>G (p.Leu1759=) | |
9 | g.115046531T>G | CA466912452 | TNC | c.318-4190A>C c.3215-4190A>C (n.3215-4190A>C) c.3915A>C (p.Leu1305=) c.1947A>C (p.Leu649=) c.603A>C (p.Leu201=) c.3962A>C c.5004A>C (p.Leu1668=) c.4458A>C (p.Leu1486=) c.4307-4190A>C (n.4307-4190A>C) n.322A>C n.253-4190A>C n.40-4190A>C c.691A>C c.4731A>C (p.Leu1577=) c.4034-4190A>C (n.4034-4190A>C) c.3366A>C (p.Leu1122=) c.5280A>C (p.Leu1760=) c.3488-4190A>C (n.3488-4190A>C) c.5007A>C (p.Leu1669=) c.4461A>C (p.Leu1487=) c.4580-4190A>C (n.4580-4190A>C) c.4188A>C (p.Leu1396=) c.3761-4190A>C (n.3761-4190A>C) c.3639A>C (p.Leu1213=) c.5553A>C (p.Leu1851=) c.5277A>C (p.Leu1759=) | |
9 | g.115046532A>C | CA374630962 | TNC | c.318-4191T>G c.3215-4191T>G (n.3215-4191T>G) c.3914T>G (p.Leu1305Arg) c.1946T>G (p.Leu649Arg) c.602T>G (p.Leu201Arg) c.3961T>G c.5003T>G (p.Leu1668Arg) c.4457T>G (p.Leu1486Arg) c.4307-4191T>G (n.4307-4191T>G) n.321T>G n.253-4191T>G n.40-4191T>G c.690T>G c.4730T>G (p.Leu1577Arg) c.4034-4191T>G (n.4034-4191T>G) c.3365T>G (p.Leu1122Arg) c.5279T>G (p.Leu1760Arg) c.3488-4191T>G (n.3488-4191T>G) c.5006T>G (p.Leu1669Arg) c.4460T>G (p.Leu1487Arg) c.4580-4191T>G (n.4580-4191T>G) c.4187T>G (p.Leu1396Arg) c.3761-4191T>G (n.3761-4191T>G) c.3638T>G (p.Leu1213Arg) c.5552T>G (p.Leu1851Arg) c.5276T>G (p.Leu1759Arg) | |
9 | g.115046532A>G | CA374630965 | TNC | c.318-4191T>C c.3215-4191T>C (n.3215-4191T>C) c.3914T>C (p.Leu1305Pro) c.1946T>C (p.Leu649Pro) c.602T>C (p.Leu201Pro) c.3961T>C c.5003T>C (p.Leu1668Pro) c.4457T>C (p.Leu1486Pro) c.4307-4191T>C (n.4307-4191T>C) n.321T>C n.253-4191T>C n.40-4191T>C c.690T>C c.4730T>C (p.Leu1577Pro) c.4034-4191T>C (n.4034-4191T>C) c.3365T>C (p.Leu1122Pro) c.5279T>C (p.Leu1760Pro) c.3488-4191T>C (n.3488-4191T>C) c.5006T>C (p.Leu1669Pro) c.4460T>C (p.Leu1487Pro) c.4580-4191T>C (n.4580-4191T>C) c.4187T>C (p.Leu1396Pro) c.3761-4191T>C (n.3761-4191T>C) c.3638T>C (p.Leu1213Pro) c.5552T>C (p.Leu1851Pro) c.5276T>C (p.Leu1759Pro) | |
9 | g.115046532A>T | CA374630964 | TNC | c.318-4191T>A c.3215-4191T>A (n.3215-4191T>A) c.3914T>A (p.Leu1305Gln) c.1946T>A (p.Leu649Gln) c.602T>A (p.Leu201Gln) c.3961T>A c.5003T>A (p.Leu1668Gln) c.4457T>A (p.Leu1486Gln) c.4307-4191T>A (n.4307-4191T>A) n.321T>A n.253-4191T>A n.40-4191T>A c.690T>A c.4730T>A (p.Leu1577Gln) c.4034-4191T>A (n.4034-4191T>A) c.3365T>A (p.Leu1122Gln) c.5279T>A (p.Leu1760Gln) c.3488-4191T>A (n.3488-4191T>A) c.5006T>A (p.Leu1669Gln) c.4460T>A (p.Leu1487Gln) c.4580-4191T>A (n.4580-4191T>A) c.4187T>A (p.Leu1396Gln) c.3761-4191T>A (n.3761-4191T>A) c.3638T>A (p.Leu1213Gln) c.5552T>A (p.Leu1851Gln) c.5276T>A (p.Leu1759Gln) | |
9 | g.115046533G>A | CA466912453 | TNC | c.318-4192C>T c.3215-4192C>T (n.3215-4192C>T) c.3913C>T (p.Leu1305=) c.1945C>T (p.Leu649=) c.601C>T (p.Leu201=) c.3960C>T c.5002C>T (p.Leu1668=) c.4456C>T (p.Leu1486=) c.4307-4192C>T (n.4307-4192C>T) n.320C>T n.253-4192C>T n.40-4192C>T c.689C>T c.4729C>T (p.Leu1577=) c.4034-4192C>T (n.4034-4192C>T) c.3364C>T (p.Leu1122=) c.5278C>T (p.Leu1760=) c.3488-4192C>T (n.3488-4192C>T) c.5005C>T (p.Leu1669=) c.4459C>T (p.Leu1487=) c.4580-4192C>T (n.4580-4192C>T) c.4186C>T (p.Leu1396=) c.3761-4192C>T (n.3761-4192C>T) c.3637C>T (p.Leu1213=) c.5551C>T (p.Leu1851=) c.5275C>T (p.Leu1759=) | |
9 | g.115046533G>C | CA374630967 | TNC | c.318-4192C>G c.3215-4192C>G (n.3215-4192C>G) c.3913C>G (p.Leu1305Val) c.1945C>G (p.Leu649Val) c.601C>G (p.Leu201Val) c.3960C>G c.5002C>G (p.Leu1668Val) c.4456C>G (p.Leu1486Val) c.4307-4192C>G (n.4307-4192C>G) n.320C>G n.253-4192C>G n.40-4192C>G c.689C>G c.4729C>G (p.Leu1577Val) c.4034-4192C>G (n.4034-4192C>G) c.3364C>G (p.Leu1122Val) c.5278C>G (p.Leu1760Val) c.3488-4192C>G (n.3488-4192C>G) c.5005C>G (p.Leu1669Val) c.4459C>G (p.Leu1487Val) c.4580-4192C>G (n.4580-4192C>G) c.4186C>G (p.Leu1396Val) c.3761-4192C>G (n.3761-4192C>G) c.3637C>G (p.Leu1213Val) c.5551C>G (p.Leu1851Val) c.5275C>G (p.Leu1759Val) | gnomAD v4 |
9 | g.115046533G>T | CA374630969 | TNC | c.318-4192C>A c.3215-4192C>A (n.3215-4192C>A) c.3913C>A (p.Leu1305Ile) c.1945C>A (p.Leu649Ile) c.601C>A (p.Leu201Ile) c.3960C>A c.5002C>A (p.Leu1668Ile) c.4456C>A (p.Leu1486Ile) c.4307-4192C>A (n.4307-4192C>A) n.320C>A n.253-4192C>A n.40-4192C>A c.689C>A c.4729C>A (p.Leu1577Ile) c.4034-4192C>A (n.4034-4192C>A) c.3364C>A (p.Leu1122Ile) c.5278C>A (p.Leu1760Ile) c.3488-4192C>A (n.3488-4192C>A) c.5005C>A (p.Leu1669Ile) c.4459C>A (p.Leu1487Ile) c.4580-4192C>A (n.4580-4192C>A) c.4186C>A (p.Leu1396Ile) c.3761-4192C>A (n.3761-4192C>A) c.3637C>A (p.Leu1213Ile) c.5551C>A (p.Leu1851Ile) c.5275C>A (p.Leu1759Ile) | COSMIC |
9 | g.115046534G>A | CA466912455 | TNC | c.318-4193C>T c.3215-4193C>T (n.3215-4193C>T) c.3912C>T (p.Thr1304=) c.1944C>T (p.Thr648=) c.600C>T (p.Thr200=) c.3959C>T c.5001C>T (p.Thr1667=) c.4455C>T (p.Thr1485=) c.4307-4193C>T (n.4307-4193C>T) n.319C>T n.253-4193C>T n.40-4193C>T c.688C>T c.4728C>T (p.Thr1576=) c.4034-4193C>T (n.4034-4193C>T) c.3363C>T (p.Thr1121=) c.5277C>T (p.Thr1759=) c.3488-4193C>T (n.3488-4193C>T) c.5004C>T (p.Thr1668=) c.4458C>T (p.Thr1486=) c.4580-4193C>T (n.4580-4193C>T) c.4185C>T (p.Thr1395=) c.3761-4193C>T (n.3761-4193C>T) c.3636C>T (p.Thr1212=) c.5550C>T (p.Thr1850=) c.5274C>T (p.Thr1758=) | |
9 | g.115046534G>C | CA466912456 | TNC | c.318-4193C>G c.3215-4193C>G (n.3215-4193C>G) c.3912C>G (p.Thr1304=) c.1944C>G (p.Thr648=) c.600C>G (p.Thr200=) c.3959C>G c.5001C>G (p.Thr1667=) c.4455C>G (p.Thr1485=) c.4307-4193C>G (n.4307-4193C>G) n.319C>G n.253-4193C>G n.40-4193C>G c.688C>G c.4728C>G (p.Thr1576=) c.4034-4193C>G (n.4034-4193C>G) c.3363C>G (p.Thr1121=) c.5277C>G (p.Thr1759=) c.3488-4193C>G (n.3488-4193C>G) c.5004C>G (p.Thr1668=) c.4458C>G (p.Thr1486=) c.4580-4193C>G (n.4580-4193C>G) c.4185C>G (p.Thr1395=) c.3761-4193C>G (n.3761-4193C>G) c.3636C>G (p.Thr1212=) c.5550C>G (p.Thr1850=) c.5274C>G (p.Thr1758=) | |
9 | g.115046534G>T | CA466912457 | TNC | c.318-4193C>A c.3215-4193C>A (n.3215-4193C>A) c.3912C>A (p.Thr1304=) c.1944C>A (p.Thr648=) c.600C>A (p.Thr200=) c.3959C>A c.5001C>A (p.Thr1667=) c.4455C>A (p.Thr1485=) c.4307-4193C>A (n.4307-4193C>A) n.319C>A n.253-4193C>A n.40-4193C>A c.688C>A c.4728C>A (p.Thr1576=) c.4034-4193C>A (n.4034-4193C>A) c.3363C>A (p.Thr1121=) c.5277C>A (p.Thr1759=) c.3488-4193C>A (n.3488-4193C>A) c.5004C>A (p.Thr1668=) c.4458C>A (p.Thr1486=) c.4580-4193C>A (n.4580-4193C>A) c.4185C>A (p.Thr1395=) c.3761-4193C>A (n.3761-4193C>A) c.3636C>A (p.Thr1212=) c.5550C>A (p.Thr1850=) c.5274C>A (p.Thr1758=) | |
9 | g.115046535G>A | CA374630970 | TNC | c.318-4194C>T c.3215-4194C>T (n.3215-4194C>T) c.3911C>T (p.Thr1304Ile) c.1943C>T (p.Thr648Ile) c.599C>T (p.Thr200Ile) c.3958C>T c.5000C>T (p.Thr1667Ile) c.4454C>T (p.Thr1485Ile) c.4307-4194C>T (n.4307-4194C>T) n.318C>T n.253-4194C>T n.40-4194C>T c.687C>T c.4727C>T (p.Thr1576Ile) c.4034-4194C>T (n.4034-4194C>T) c.3362C>T (p.Thr1121Ile) c.5276C>T (p.Thr1759Ile) c.3488-4194C>T (n.3488-4194C>T) c.5003C>T (p.Thr1668Ile) c.4457C>T (p.Thr1486Ile) c.4580-4194C>T (n.4580-4194C>T) c.4184C>T (p.Thr1395Ile) c.3761-4194C>T (n.3761-4194C>T) c.3635C>T (p.Thr1212Ile) c.5549C>T (p.Thr1850Ile) c.5273C>T (p.Thr1758Ile) | dbSNP |
9 | g.115046535G>C | CA374630972 | TNC | c.318-4194C>G c.3215-4194C>G (n.3215-4194C>G) c.3911C>G (p.Thr1304Ser) c.1943C>G (p.Thr648Ser) c.599C>G (p.Thr200Ser) c.3958C>G c.5000C>G (p.Thr1667Ser) c.4454C>G (p.Thr1485Ser) c.4307-4194C>G (n.4307-4194C>G) n.318C>G n.253-4194C>G n.40-4194C>G c.687C>G c.4727C>G (p.Thr1576Ser) c.4034-4194C>G (n.4034-4194C>G) c.3362C>G (p.Thr1121Ser) c.5276C>G (p.Thr1759Ser) c.3488-4194C>G (n.3488-4194C>G) c.5003C>G (p.Thr1668Ser) c.4457C>G (p.Thr1486Ser) c.4580-4194C>G (n.4580-4194C>G) c.4184C>G (p.Thr1395Ser) c.3761-4194C>G (n.3761-4194C>G) c.3635C>G (p.Thr1212Ser) c.5549C>G (p.Thr1850Ser) c.5273C>G (p.Thr1758Ser) | |
9 | g.115046535G= | CA1874118904 | TNC | c.318-4194C= c.3215-4194C= (n.3215-4194C=) c.3911C= (p.Thr1304=) c.1943C= (p.Thr648=) c.599C= (p.Thr200=) c.3958C= c.5000C= (p.Thr1667=) c.4454C= (p.Thr1485=) c.4307-4194C= (n.4307-4194C=) n.318C= n.253-4194C= n.40-4194C= c.687C= c.4727C= (p.Thr1576=) c.4034-4194C= (n.4034-4194C=) c.3362C= (p.Thr1121=) c.5276C= (p.Thr1759=) c.3488-4194C= (n.3488-4194C=) c.5003C= (p.Thr1668=) c.4457C= (p.Thr1486=) c.4580-4194C= (n.4580-4194C=) c.4184C= (p.Thr1395=) c.3761-4194C= (n.3761-4194C=) c.3635C= (p.Thr1212=) c.5549C= (p.Thr1850=) c.5273C= (p.Thr1758=) | |
9 | g.115046535G>T | CA198692619 | TNC | c.318-4194C>A c.3215-4194C>A (n.3215-4194C>A) c.3911C>A (p.Thr1304Asn) c.1943C>A (p.Thr648Asn) c.599C>A (p.Thr200Asn) c.3958C>A c.5000C>A (p.Thr1667Asn) c.4454C>A (p.Thr1485Asn) c.4307-4194C>A (n.4307-4194C>A) n.318C>A n.253-4194C>A n.40-4194C>A c.687C>A c.4727C>A (p.Thr1576Asn) c.4034-4194C>A (n.4034-4194C>A) c.3362C>A (p.Thr1121Asn) c.5276C>A (p.Thr1759Asn) c.3488-4194C>A (n.3488-4194C>A) c.5003C>A (p.Thr1668Asn) c.4457C>A (p.Thr1486Asn) c.4580-4194C>A (n.4580-4194C>A) c.4184C>A (p.Thr1395Asn) c.3761-4194C>A (n.3761-4194C>A) c.3635C>A (p.Thr1212Asn) c.5549C>A (p.Thr1850Asn) c.5273C>A (p.Thr1758Asn) | dbSNP gnomAD v4 |
9 | g.115046536T>A | CA374630974 | TNC | c.318-4195A>T c.3215-4195A>T (n.3215-4195A>T) c.3910A>T (p.Thr1304Ser) c.1942A>T (p.Thr648Ser) c.598A>T (p.Thr200Ser) c.3957A>T c.4999A>T (p.Thr1667Ser) c.4453A>T (p.Thr1485Ser) c.4307-4195A>T (n.4307-4195A>T) n.317A>T n.253-4195A>T n.40-4195A>T c.686A>T c.4726A>T (p.Thr1576Ser) c.4034-4195A>T (n.4034-4195A>T) c.3361A>T (p.Thr1121Ser) c.5275A>T (p.Thr1759Ser) c.3488-4195A>T (n.3488-4195A>T) c.5002A>T (p.Thr1668Ser) c.4456A>T (p.Thr1486Ser) c.4580-4195A>T (n.4580-4195A>T) c.4183A>T (p.Thr1395Ser) c.3761-4195A>T (n.3761-4195A>T) c.3634A>T (p.Thr1212Ser) c.5548A>T (p.Thr1850Ser) c.5272A>T (p.Thr1758Ser) | |
9 | g.115046536T>C | CA374630976 | TNC | c.318-4195A>G c.3215-4195A>G (n.3215-4195A>G) c.3910A>G (p.Thr1304Ala) c.1942A>G (p.Thr648Ala) c.598A>G (p.Thr200Ala) c.3957A>G c.4999A>G (p.Thr1667Ala) c.4453A>G (p.Thr1485Ala) c.4307-4195A>G (n.4307-4195A>G) n.317A>G n.253-4195A>G n.40-4195A>G c.686A>G c.4726A>G (p.Thr1576Ala) c.4034-4195A>G (n.4034-4195A>G) c.3361A>G (p.Thr1121Ala) c.5275A>G (p.Thr1759Ala) c.3488-4195A>G (n.3488-4195A>G) c.5002A>G (p.Thr1668Ala) c.4456A>G (p.Thr1486Ala) c.4580-4195A>G (n.4580-4195A>G) c.4183A>G (p.Thr1395Ala) c.3761-4195A>G (n.3761-4195A>G) c.3634A>G (p.Thr1212Ala) c.5548A>G (p.Thr1850Ala) c.5272A>G (p.Thr1758Ala) | gnomAD v4 |
9 | g.115046536T>G | CA374630978 | TNC | c.318-4195A>C c.3215-4195A>C (n.3215-4195A>C) c.3910A>C (p.Thr1304Pro) c.1942A>C (p.Thr648Pro) c.598A>C (p.Thr200Pro) c.3957A>C c.4999A>C (p.Thr1667Pro) c.4453A>C (p.Thr1485Pro) c.4307-4195A>C (n.4307-4195A>C) n.317A>C n.253-4195A>C n.40-4195A>C c.686A>C c.4726A>C (p.Thr1576Pro) c.4034-4195A>C (n.4034-4195A>C) c.3361A>C (p.Thr1121Pro) c.5275A>C (p.Thr1759Pro) c.3488-4195A>C (n.3488-4195A>C) c.5002A>C (p.Thr1668Pro) c.4456A>C (p.Thr1486Pro) c.4580-4195A>C (n.4580-4195A>C) c.4183A>C (p.Thr1395Pro) c.3761-4195A>C (n.3761-4195A>C) c.3634A>C (p.Thr1212Pro) c.5548A>C (p.Thr1850Pro) c.5272A>C (p.Thr1758Pro) | |
9 | g.115046537T>A | CA466912459 | TNC | c.318-4196A>T c.3215-4196A>T (n.3215-4196A>T) c.3909A>T (p.Ile1303=) c.1941A>T (p.Ile647=) c.597A>T (p.Ile199=) c.3956A>T c.4998A>T (p.Ile1666=) c.4452A>T (p.Ile1484=) c.4307-4196A>T (n.4307-4196A>T) n.316A>T n.253-4196A>T n.40-4196A>T c.685A>T c.4725A>T (p.Ile1575=) c.4034-4196A>T (n.4034-4196A>T) c.3360A>T (p.Ile1120=) c.5274A>T (p.Ile1758=) c.3488-4196A>T (n.3488-4196A>T) c.5001A>T (p.Ile1667=) c.4455A>T (p.Ile1485=) c.4580-4196A>T (n.4580-4196A>T) c.4182A>T (p.Ile1394=) c.3761-4196A>T (n.3761-4196A>T) c.3633A>T (p.Ile1211=) c.5547A>T (p.Ile1849=) c.5271A>T (p.Ile1757=) | |
9 | g.115046537T>C | CA374630979 | TNC | c.318-4196A>G c.3215-4196A>G (n.3215-4196A>G) c.3909A>G (p.Ile1303Met) c.1941A>G (p.Ile647Met) c.597A>G (p.Ile199Met) c.3956A>G c.4998A>G (p.Ile1666Met) c.4452A>G (p.Ile1484Met) c.4307-4196A>G (n.4307-4196A>G) n.316A>G n.253-4196A>G n.40-4196A>G c.685A>G c.4725A>G (p.Ile1575Met) c.4034-4196A>G (n.4034-4196A>G) c.3360A>G (p.Ile1120Met) c.5274A>G (p.Ile1758Met) c.3488-4196A>G (n.3488-4196A>G) c.5001A>G (p.Ile1667Met) c.4455A>G (p.Ile1485Met) c.4580-4196A>G (n.4580-4196A>G) c.4182A>G (p.Ile1394Met) c.3761-4196A>G (n.3761-4196A>G) c.3633A>G (p.Ile1211Met) c.5547A>G (p.Ile1849Met) c.5271A>G (p.Ile1757Met) | |
9 | g.115046537T>G | CA466912461 | TNC | c.318-4196A>C c.3215-4196A>C (n.3215-4196A>C) c.3909A>C (p.Ile1303=) c.1941A>C (p.Ile647=) c.597A>C (p.Ile199=) c.3956A>C c.4998A>C (p.Ile1666=) c.4452A>C (p.Ile1484=) c.4307-4196A>C (n.4307-4196A>C) n.316A>C n.253-4196A>C n.40-4196A>C c.685A>C c.4725A>C (p.Ile1575=) c.4034-4196A>C (n.4034-4196A>C) c.3360A>C (p.Ile1120=) c.5274A>C (p.Ile1758=) c.3488-4196A>C (n.3488-4196A>C) c.5001A>C (p.Ile1667=) c.4455A>C (p.Ile1485=) c.4580-4196A>C (n.4580-4196A>C) c.4182A>C (p.Ile1394=) c.3761-4196A>C (n.3761-4196A>C) c.3633A>C (p.Ile1211=) c.5547A>C (p.Ile1849=) c.5271A>C (p.Ile1757=) | |
9 | g.115046538A>C | CA374630981 | TNC | c.318-4197T>G c.3215-4197T>G (n.3215-4197T>G) c.3908T>G (p.Ile1303Arg) c.1940T>G (p.Ile647Arg) c.596T>G (p.Ile199Arg) c.3955T>G c.4997T>G (p.Ile1666Arg) c.4451T>G (p.Ile1484Arg) c.4307-4197T>G (n.4307-4197T>G) n.315T>G n.253-4197T>G n.40-4197T>G c.684T>G c.4724T>G (p.Ile1575Arg) c.4034-4197T>G (n.4034-4197T>G) c.3359T>G (p.Ile1120Arg) c.5273T>G (p.Ile1758Arg) c.3488-4197T>G (n.3488-4197T>G) c.5000T>G (p.Ile1667Arg) c.4454T>G (p.Ile1485Arg) c.4580-4197T>G (n.4580-4197T>G) c.4181T>G (p.Ile1394Arg) c.3761-4197T>G (n.3761-4197T>G) c.3632T>G (p.Ile1211Arg) c.5546T>G (p.Ile1849Arg) c.5270T>G (p.Ile1757Arg) | gnomAD v4 COSMIC |
9 | g.115046538A>G | CA374630983 | TNC | c.318-4197T>C c.3215-4197T>C (n.3215-4197T>C) c.3908T>C (p.Ile1303Thr) c.1940T>C (p.Ile647Thr) c.596T>C (p.Ile199Thr) c.3955T>C c.4997T>C (p.Ile1666Thr) c.4451T>C (p.Ile1484Thr) c.4307-4197T>C (n.4307-4197T>C) n.315T>C n.253-4197T>C n.40-4197T>C c.684T>C c.4724T>C (p.Ile1575Thr) c.4034-4197T>C (n.4034-4197T>C) c.3359T>C (p.Ile1120Thr) c.5273T>C (p.Ile1758Thr) c.3488-4197T>C (n.3488-4197T>C) c.5000T>C (p.Ile1667Thr) c.4454T>C (p.Ile1485Thr) c.4580-4197T>C (n.4580-4197T>C) c.4181T>C (p.Ile1394Thr) c.3761-4197T>C (n.3761-4197T>C) c.3632T>C (p.Ile1211Thr) c.5546T>C (p.Ile1849Thr) c.5270T>C (p.Ile1757Thr) | |
9 | g.115046538A>T | CA374630984 | TNC | c.318-4197T>A c.3215-4197T>A (n.3215-4197T>A) c.3908T>A (p.Ile1303Lys) c.1940T>A (p.Ile647Lys) c.596T>A (p.Ile199Lys) c.3955T>A c.4997T>A (p.Ile1666Lys) c.4451T>A (p.Ile1484Lys) c.4307-4197T>A (n.4307-4197T>A) n.315T>A n.253-4197T>A n.40-4197T>A c.684T>A c.4724T>A (p.Ile1575Lys) c.4034-4197T>A (n.4034-4197T>A) c.3359T>A (p.Ile1120Lys) c.5273T>A (p.Ile1758Lys) c.3488-4197T>A (n.3488-4197T>A) c.5000T>A (p.Ile1667Lys) c.4454T>A (p.Ile1485Lys) c.4580-4197T>A (n.4580-4197T>A) c.4181T>A (p.Ile1394Lys) c.3761-4197T>A (n.3761-4197T>A) c.3632T>A (p.Ile1211Lys) c.5546T>A (p.Ile1849Lys) c.5270T>A (p.Ile1757Lys) | |
9 | g.115046539T>A | CA374630990 | TNC | c.318-4198A>T c.3215-4198A>T (n.3215-4198A>T) c.3907A>T (p.Ile1303Leu) c.1939A>T (p.Ile647Leu) c.595A>T (p.Ile199Leu) c.3954A>T c.4996A>T (p.Ile1666Leu) c.4450A>T (p.Ile1484Leu) c.4307-4198A>T (n.4307-4198A>T) n.314A>T n.253-4198A>T n.40-4198A>T c.683A>T c.4723A>T (p.Ile1575Leu) c.4034-4198A>T (n.4034-4198A>T) c.3358A>T (p.Ile1120Leu) c.5272A>T (p.Ile1758Leu) c.3488-4198A>T (n.3488-4198A>T) c.4999A>T (p.Ile1667Leu) c.4453A>T (p.Ile1485Leu) c.4580-4198A>T (n.4580-4198A>T) c.4180A>T (p.Ile1394Leu) c.3761-4198A>T (n.3761-4198A>T) c.3631A>T (p.Ile1211Leu) c.5545A>T (p.Ile1849Leu) c.5269A>T (p.Ile1757Leu) | |
9 | g.115046539T>C | CA374630989 | TNC | c.318-4198A>G c.3215-4198A>G (n.3215-4198A>G) c.3907A>G (p.Ile1303Val) c.1939A>G (p.Ile647Val) c.595A>G (p.Ile199Val) c.3954A>G c.4996A>G (p.Ile1666Val) c.4450A>G (p.Ile1484Val) c.4307-4198A>G (n.4307-4198A>G) n.314A>G n.253-4198A>G n.40-4198A>G c.683A>G c.4723A>G (p.Ile1575Val) c.4034-4198A>G (n.4034-4198A>G) c.3358A>G (p.Ile1120Val) c.5272A>G (p.Ile1758Val) c.3488-4198A>G (n.3488-4198A>G) c.4999A>G (p.Ile1667Val) c.4453A>G (p.Ile1485Val) c.4580-4198A>G (n.4580-4198A>G) c.4180A>G (p.Ile1394Val) c.3761-4198A>G (n.3761-4198A>G) c.3631A>G (p.Ile1211Val) c.5545A>G (p.Ile1849Val) c.5269A>G (p.Ile1757Val) | |
9 | g.115046539T>G | CA374630987 | TNC | c.318-4198A>C c.3215-4198A>C (n.3215-4198A>C) c.3907A>C (p.Ile1303Leu) c.1939A>C (p.Ile647Leu) c.595A>C (p.Ile199Leu) c.3954A>C c.4996A>C (p.Ile1666Leu) c.4450A>C (p.Ile1484Leu) c.4307-4198A>C (n.4307-4198A>C) n.314A>C n.253-4198A>C n.40-4198A>C c.683A>C c.4723A>C (p.Ile1575Leu) c.4034-4198A>C (n.4034-4198A>C) c.3358A>C (p.Ile1120Leu) c.5272A>C (p.Ile1758Leu) c.3488-4198A>C (n.3488-4198A>C) c.4999A>C (p.Ile1667Leu) c.4453A>C (p.Ile1485Leu) c.4580-4198A>C (n.4580-4198A>C) c.4180A>C (p.Ile1394Leu) c.3761-4198A>C (n.3761-4198A>C) c.3631A>C (p.Ile1211Leu) c.5545A>C (p.Ile1849Leu) c.5269A>C (p.Ile1757Leu) | |
9 | g.115046540T>A | CA374630992 | TNC | c.318-4199A>T c.3215-4199A>T (n.3215-4199A>T) c.3906A>T (p.Glu1302Asp) c.1938A>T (p.Glu646Asp) c.594A>T (p.Glu198Asp) c.3953A>T c.4995A>T (p.Glu1665Asp) c.4449A>T (p.Glu1483Asp) c.4307-4199A>T (n.4307-4199A>T) n.313A>T n.253-4199A>T n.40-4199A>T c.682A>T c.4722A>T (p.Glu1574Asp) c.4034-4199A>T (n.4034-4199A>T) c.3357A>T (p.Glu1119Asp) c.5271A>T (p.Glu1757Asp) c.3488-4199A>T (n.3488-4199A>T) c.4998A>T (p.Glu1666Asp) c.4452A>T (p.Glu1484Asp) c.4580-4199A>T (n.4580-4199A>T) c.4179A>T (p.Glu1393Asp) c.3761-4199A>T (n.3761-4199A>T) c.3630A>T (p.Glu1210Asp) c.5544A>T (p.Glu1848Asp) c.5268A>T (p.Glu1756Asp) | |
9 | g.115046540T>C | CA466912463 | TNC | c.318-4199A>G c.3215-4199A>G (n.3215-4199A>G) c.3906A>G (p.Glu1302=) c.1938A>G (p.Glu646=) c.594A>G (p.Glu198=) c.3953A>G c.4995A>G (p.Glu1665=) c.4449A>G (p.Glu1483=) c.4307-4199A>G (n.4307-4199A>G) n.313A>G n.253-4199A>G n.40-4199A>G c.682A>G c.4722A>G (p.Glu1574=) c.4034-4199A>G (n.4034-4199A>G) c.3357A>G (p.Glu1119=) c.5271A>G (p.Glu1757=) c.3488-4199A>G (n.3488-4199A>G) c.4998A>G (p.Glu1666=) c.4452A>G (p.Glu1484=) c.4580-4199A>G (n.4580-4199A>G) c.4179A>G (p.Glu1393=) c.3761-4199A>G (n.3761-4199A>G) c.3630A>G (p.Glu1210=) c.5544A>G (p.Glu1848=) c.5268A>G (p.Glu1756=) | |
9 | g.115046540T>G | CA374630993 | TNC | c.318-4199A>C c.3215-4199A>C (n.3215-4199A>C) c.3906A>C (p.Glu1302Asp) c.1938A>C (p.Glu646Asp) c.594A>C (p.Glu198Asp) c.3953A>C c.4995A>C (p.Glu1665Asp) c.4449A>C (p.Glu1483Asp) c.4307-4199A>C (n.4307-4199A>C) n.313A>C n.253-4199A>C n.40-4199A>C c.682A>C c.4722A>C (p.Glu1574Asp) c.4034-4199A>C (n.4034-4199A>C) c.3357A>C (p.Glu1119Asp) c.5271A>C (p.Glu1757Asp) c.3488-4199A>C (n.3488-4199A>C) c.4998A>C (p.Glu1666Asp) c.4452A>C (p.Glu1484Asp) c.4580-4199A>C (n.4580-4199A>C) c.4179A>C (p.Glu1393Asp) c.3761-4199A>C (n.3761-4199A>C) c.3630A>C (p.Glu1210Asp) c.5544A>C (p.Glu1848Asp) c.5268A>C (p.Glu1756Asp) |