| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108157075A>C | CA518100709 | COL4A6 | c.4998T>G (p.Pro1666=) c.5001T>G (p.Pro1667=) c.5049T>G (p.Pro1683=) c.4827T>G (p.Pro1609=) c.4962T>G (p.Pro1654=) c.4926T>G (p.Pro1642=) c.5052T>G (p.Pro1684=) c.4980T>G (p.Pro1660=) c.4968T>G (p.Pro1656=) | |
| X | g.108157075A>G | CA518100710 | COL4A6 | c.4998T>C (p.Pro1666=) c.5001T>C (p.Pro1667=) c.5049T>C (p.Pro1683=) c.4827T>C (p.Pro1609=) c.4962T>C (p.Pro1654=) c.4926T>C (p.Pro1642=) c.5052T>C (p.Pro1684=) c.4980T>C (p.Pro1660=) c.4968T>C (p.Pro1656=) | |
| X | g.108157075A>T | CA518100711 | COL4A6 | c.4998T>A (p.Pro1666=) c.5001T>A (p.Pro1667=) c.5049T>A (p.Pro1683=) c.4827T>A (p.Pro1609=) c.4962T>A (p.Pro1654=) c.4926T>A (p.Pro1642=) c.5052T>A (p.Pro1684=) c.4980T>A (p.Pro1660=) c.4968T>A (p.Pro1656=) | |
| X | g.108157076G>A | CA413848065 | COL4A6 | c.4997C>T (p.Pro1666Leu) c.5000C>T (p.Pro1667Leu) c.5048C>T (p.Pro1683Leu) c.4826C>T (p.Pro1609Leu) c.4961C>T (p.Pro1654Leu) c.4925C>T (p.Pro1642Leu) c.5051C>T (p.Pro1684Leu) c.4979C>T (p.Pro1660Leu) c.4967C>T (p.Pro1656Leu) | |
| X | g.108157076G>C | CA413848067 | COL4A6 | c.4997C>G (p.Pro1666Arg) c.5000C>G (p.Pro1667Arg) c.5048C>G (p.Pro1683Arg) c.4826C>G (p.Pro1609Arg) c.4961C>G (p.Pro1654Arg) c.4925C>G (p.Pro1642Arg) c.5051C>G (p.Pro1684Arg) c.4979C>G (p.Pro1660Arg) c.4967C>G (p.Pro1656Arg) | |
| X | g.108157076G>T | CA413848069 | COL4A6 | c.4997C>A (p.Pro1666His) c.5000C>A (p.Pro1667His) c.5048C>A (p.Pro1683His) c.4826C>A (p.Pro1609His) c.4961C>A (p.Pro1654His) c.4925C>A (p.Pro1642His) c.5051C>A (p.Pro1684His) c.4979C>A (p.Pro1660His) c.4967C>A (p.Pro1656His) | |
| X | g.108157077G>A | CA413848071 | COL4A6 | c.4996C>T (p.Pro1666Ser) c.4999C>T (p.Pro1667Ser) c.5047C>T (p.Pro1683Ser) c.4825C>T (p.Pro1609Ser) c.4960C>T (p.Pro1654Ser) c.4924C>T (p.Pro1642Ser) c.5050C>T (p.Pro1684Ser) c.4978C>T (p.Pro1660Ser) c.4966C>T (p.Pro1656Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.108157077G>C | CA413848072 | COL4A6 | c.4996C>G (p.Pro1666Ala) c.4999C>G (p.Pro1667Ala) c.5047C>G (p.Pro1683Ala) c.4825C>G (p.Pro1609Ala) c.4960C>G (p.Pro1654Ala) c.4924C>G (p.Pro1642Ala) c.5050C>G (p.Pro1684Ala) c.4978C>G (p.Pro1660Ala) c.4966C>G (p.Pro1656Ala) | |
| X | g.108157077G= | CA2450541945 | COL4A6 | c.4996C= (p.Pro1666=) c.4999C= (p.Pro1667=) c.5047C= (p.Pro1683=) c.4825C= (p.Pro1609=) c.4960C= (p.Pro1654=) c.4924C= (p.Pro1642=) c.5050C= (p.Pro1684=) c.4978C= (p.Pro1660=) c.4966C= (p.Pro1656=) | |
| X | g.108157077G>T | CA413848074 | COL4A6 | c.4996C>A (p.Pro1666Thr) c.4999C>A (p.Pro1667Thr) c.5047C>A (p.Pro1683Thr) c.4825C>A (p.Pro1609Thr) c.4960C>A (p.Pro1654Thr) c.4924C>A (p.Pro1642Thr) c.5050C>A (p.Pro1684Thr) c.4978C>A (p.Pro1660Thr) c.4966C>A (p.Pro1656Thr) | |
| X | g.108157078C>A | CA413848076 | COL4A6 | c.4995G>T (p.Leu1665Phe) c.4998G>T (p.Leu1666Phe) c.5046G>T (p.Leu1682Phe) c.4824G>T (p.Leu1608Phe) c.4959G>T (p.Leu1653Phe) c.4923G>T (p.Leu1641Phe) c.5049G>T (p.Leu1683Phe) c.4977G>T (p.Leu1659Phe) c.4965G>T (p.Leu1655Phe) | |
| X | g.108157078C= | CA2450541946 | COL4A6 | c.4995G= (p.Leu1665=) c.4998G= (p.Leu1666=) c.5046G= (p.Leu1682=) c.4824G= (p.Leu1608=) c.4959G= (p.Leu1653=) c.4923G= (p.Leu1641=) c.5049G= (p.Leu1683=) c.4977G= (p.Leu1659=) c.4965G= (p.Leu1655=) | |
| X | g.108157078C>G | CA413848078 | COL4A6 | c.4995G>C (p.Leu1665Phe) c.4998G>C (p.Leu1666Phe) c.5046G>C (p.Leu1682Phe) c.4824G>C (p.Leu1608Phe) c.4959G>C (p.Leu1653Phe) c.4923G>C (p.Leu1641Phe) c.5049G>C (p.Leu1683Phe) c.4977G>C (p.Leu1659Phe) c.4965G>C (p.Leu1655Phe) | gnomAD v4 |
| X | g.108157078C>T | CA334033914 | COL4A6 | c.4995G>A (p.Leu1665=) c.4998G>A (p.Leu1666=) c.5046G>A (p.Leu1682=) c.4824G>A (p.Leu1608=) c.4959G>A (p.Leu1653=) c.4923G>A (p.Leu1641=) c.5049G>A (p.Leu1683=) c.4977G>A (p.Leu1659=) c.4965G>A (p.Leu1655=) | dbSNP |
| X | g.108157079A= | CA2450541947 | COL4A6 | c.4994T= (p.Leu1665=) c.4997T= (p.Leu1666=) c.5045T= (p.Leu1682=) c.4823T= (p.Leu1608=) c.4958T= (p.Leu1653=) c.4922T= (p.Leu1641=) c.5048T= (p.Leu1683=) c.4976T= (p.Leu1659=) c.4964T= (p.Leu1655=) | |
| X | g.108157079A>C | CA413848080 | COL4A6 | c.4994T>G (p.Leu1665Trp) c.4997T>G (p.Leu1666Trp) c.5045T>G (p.Leu1682Trp) c.4823T>G (p.Leu1608Trp) c.4958T>G (p.Leu1653Trp) c.4922T>G (p.Leu1641Trp) c.5048T>G (p.Leu1683Trp) c.4976T>G (p.Leu1659Trp) c.4964T>G (p.Leu1655Trp) | |
| X | g.108157079A>G | CA10487079 | COL4A6 | c.4994T>C (p.Leu1665Ser) c.4997T>C (p.Leu1666Ser) c.5045T>C (p.Leu1682Ser) c.4823T>C (p.Leu1608Ser) c.4958T>C (p.Leu1653Ser) c.4922T>C (p.Leu1641Ser) c.5048T>C (p.Leu1683Ser) c.4976T>C (p.Leu1659Ser) c.4964T>C (p.Leu1655Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157079A>T | CA413848082 | COL4A6 | c.4994T>A (p.Leu1665Ter) c.4997T>A (p.Leu1666Ter) c.5045T>A (p.Leu1682Ter) c.4823T>A (p.Leu1608Ter) c.4958T>A (p.Leu1653Ter) c.4922T>A (p.Leu1641Ter) c.5048T>A (p.Leu1683Ter) c.4976T>A (p.Leu1659Ter) c.4964T>A (p.Leu1655Ter) | |
| X | g.108157080A= | CA2450541948 | COL4A6 | c.4993T= (p.Leu1665=) c.4996T= (p.Leu1666=) c.5044T= (p.Leu1682=) c.4822T= (p.Leu1608=) c.4957T= (p.Leu1653=) c.4921T= (p.Leu1641=) c.5047T= (p.Leu1683=) c.4975T= (p.Leu1659=) c.4963T= (p.Leu1655=) | |
| X | g.108157080A>C | CA413848084 | COL4A6 | c.4993T>G (p.Leu1665Val) c.4996T>G (p.Leu1666Val) c.5044T>G (p.Leu1682Val) c.4822T>G (p.Leu1608Val) c.4957T>G (p.Leu1653Val) c.4921T>G (p.Leu1641Val) c.5047T>G (p.Leu1683Val) c.4975T>G (p.Leu1659Val) c.4963T>G (p.Leu1655Val) | |
| X | g.108157080A>G | CA10487080 | COL4A6 | c.4993T>C (p.Leu1665=) c.4996T>C (p.Leu1666=) c.5044T>C (p.Leu1682=) c.4822T>C (p.Leu1608=) c.4957T>C (p.Leu1653=) c.4921T>C (p.Leu1641=) c.5047T>C (p.Leu1683=) c.4975T>C (p.Leu1659=) c.4963T>C (p.Leu1655=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157080A>T | CA413848087 | COL4A6 | c.4993T>A (p.Leu1665Met) c.4996T>A (p.Leu1666Met) c.5044T>A (p.Leu1682Met) c.4822T>A (p.Leu1608Met) c.4957T>A (p.Leu1653Met) c.4921T>A (p.Leu1641Met) c.5047T>A (p.Leu1683Met) c.4975T>A (p.Leu1659Met) c.4963T>A (p.Leu1655Met) | |
| X | g.108157081C>A | CA413848091 | COL4A6 | c.4992G>T (p.Glu1664Asp) c.4995G>T (p.Glu1665Asp) c.5043G>T (p.Glu1681Asp) c.4821G>T (p.Glu1607Asp) c.4956G>T (p.Glu1652Asp) c.4920G>T (p.Glu1640Asp) c.5046G>T (p.Glu1682Asp) c.4974G>T (p.Glu1658Asp) c.4962G>T (p.Glu1654Asp) | dbSNP |
| X | g.108157081C= | CA2450541949 | COL4A6 | c.4992G= (p.Glu1664=) c.4995G= (p.Glu1665=) c.5043G= (p.Glu1681=) c.4821G= (p.Glu1607=) c.4956G= (p.Glu1652=) c.4920G= (p.Glu1640=) c.5046G= (p.Glu1682=) c.4974G= (p.Glu1658=) c.4962G= (p.Glu1654=) | |
| X | g.108157081C>G | CA413848089 | COL4A6 | c.4992G>C (p.Glu1664Asp) c.4995G>C (p.Glu1665Asp) c.5043G>C (p.Glu1681Asp) c.4821G>C (p.Glu1607Asp) c.4956G>C (p.Glu1652Asp) c.4920G>C (p.Glu1640Asp) c.5046G>C (p.Glu1682Asp) c.4974G>C (p.Glu1658Asp) c.4962G>C (p.Glu1654Asp) | |
| X | g.108157081C>T | CA518100718 | COL4A6 | c.4992G>A (p.Glu1664=) c.4995G>A (p.Glu1665=) c.5043G>A (p.Glu1681=) c.4821G>A (p.Glu1607=) c.4956G>A (p.Glu1652=) c.4920G>A (p.Glu1640=) c.5046G>A (p.Glu1682=) c.4974G>A (p.Glu1658=) c.4962G>A (p.Glu1654=) | |
| X | g.108157082T>A | CA413848093 | COL4A6 | c.4991A>T (p.Glu1664Val) c.4994A>T (p.Glu1665Val) c.5042A>T (p.Glu1681Val) c.4820A>T (p.Glu1607Val) c.4955A>T (p.Glu1652Val) c.4919A>T (p.Glu1640Val) c.5045A>T (p.Glu1682Val) c.4973A>T (p.Glu1658Val) c.4961A>T (p.Glu1654Val) | |
| X | g.108157082T>C | CA413848095 | COL4A6 | c.4991A>G (p.Glu1664Gly) c.4994A>G (p.Glu1665Gly) c.5042A>G (p.Glu1681Gly) c.4820A>G (p.Glu1607Gly) c.4955A>G (p.Glu1652Gly) c.4919A>G (p.Glu1640Gly) c.5045A>G (p.Glu1682Gly) c.4973A>G (p.Glu1658Gly) c.4961A>G (p.Glu1654Gly) | |
| X | g.108157082T>G | CA413848096 | COL4A6 | c.4991A>C (p.Glu1664Ala) c.4994A>C (p.Glu1665Ala) c.5042A>C (p.Glu1681Ala) c.4820A>C (p.Glu1607Ala) c.4955A>C (p.Glu1652Ala) c.4919A>C (p.Glu1640Ala) c.5045A>C (p.Glu1682Ala) c.4973A>C (p.Glu1658Ala) c.4961A>C (p.Glu1654Ala) | |
| X | g.108157083C>A | CA334033921 | COL4A6 | c.4990G>T (p.Glu1664Ter) c.4993G>T (p.Glu1665Ter) c.5041G>T (p.Glu1681Ter) c.4819G>T (p.Glu1607Ter) c.4954G>T (p.Glu1652Ter) c.4918G>T (p.Glu1640Ter) c.5044G>T (p.Glu1682Ter) c.4972G>T (p.Glu1658Ter) c.4960G>T (p.Glu1654Ter) | dbSNP |
| X | g.108157083C= | CA2450541950 | COL4A6 | c.4990G= (p.Glu1664=) c.4993G= (p.Glu1665=) c.5041G= (p.Glu1681=) c.4819G= (p.Glu1607=) c.4954G= (p.Glu1652=) c.4918G= (p.Glu1640=) c.5044G= (p.Glu1682=) c.4972G= (p.Glu1658=) c.4960G= (p.Glu1654=) | |
| X | g.108157083C>G | CA413848099 | COL4A6 | c.4990G>C (p.Glu1664Gln) c.4993G>C (p.Glu1665Gln) c.5041G>C (p.Glu1681Gln) c.4819G>C (p.Glu1607Gln) c.4954G>C (p.Glu1652Gln) c.4918G>C (p.Glu1640Gln) c.5044G>C (p.Glu1682Gln) c.4972G>C (p.Glu1658Gln) c.4960G>C (p.Glu1654Gln) | |
| X | g.108157083C>T | CA413848100 | COL4A6 | c.4990G>A (p.Glu1664Lys) c.4993G>A (p.Glu1665Lys) c.5041G>A (p.Glu1681Lys) c.4819G>A (p.Glu1607Lys) c.4954G>A (p.Glu1652Lys) c.4918G>A (p.Glu1640Lys) c.5044G>A (p.Glu1682Lys) c.4972G>A (p.Glu1658Lys) c.4960G>A (p.Glu1654Lys) | |
| X | g.108157084C>A | CA518100724 | COL4A6 | c.4989G>T (p.Gly1663=) c.4992G>T (p.Gly1664=) c.5040G>T (p.Gly1680=) c.4818G>T (p.Gly1606=) c.4953G>T (p.Gly1651=) c.4917G>T (p.Gly1639=) c.5043G>T (p.Gly1681=) c.4971G>T (p.Gly1657=) c.4959G>T (p.Gly1653=) | |
| X | g.108157084C= | CA2450541951 | COL4A6 | c.4989G= (p.Gly1663=) c.4992G= (p.Gly1664=) c.5040G= (p.Gly1680=) c.4818G= (p.Gly1606=) c.4953G= (p.Gly1651=) c.4917G= (p.Gly1639=) c.5043G= (p.Gly1681=) c.4971G= (p.Gly1657=) c.4959G= (p.Gly1653=) | |
| X | g.108157084C>G | CA518100726 | COL4A6 | c.4989G>C (p.Gly1663=) c.4992G>C (p.Gly1664=) c.5040G>C (p.Gly1680=) c.4818G>C (p.Gly1606=) c.4953G>C (p.Gly1651=) c.4917G>C (p.Gly1639=) c.5043G>C (p.Gly1681=) c.4971G>C (p.Gly1657=) c.4959G>C (p.Gly1653=) | gnomAD v4 |
| X | g.108157084C>T | CA518100728 | COL4A6 | c.4989G>A (p.Gly1663=) c.4992G>A (p.Gly1664=) c.5040G>A (p.Gly1680=) c.4818G>A (p.Gly1606=) c.4953G>A (p.Gly1651=) c.4917G>A (p.Gly1639=) c.5043G>A (p.Gly1681=) c.4971G>A (p.Gly1657=) c.4959G>A (p.Gly1653=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157085C>A | CA413848103 | COL4A6 | c.4988G>T (p.Gly1663Val) c.4991G>T (p.Gly1664Val) c.5039G>T (p.Gly1680Val) c.4817G>T (p.Gly1606Val) c.4952G>T (p.Gly1651Val) c.4916G>T (p.Gly1639Val) c.5042G>T (p.Gly1681Val) c.4970G>T (p.Gly1657Val) c.4958G>T (p.Gly1653Val) | |
| X | g.108157085C>G | CA413848106 | COL4A6 | c.4988G>C (p.Gly1663Ala) c.4991G>C (p.Gly1664Ala) c.5039G>C (p.Gly1680Ala) c.4817G>C (p.Gly1606Ala) c.4952G>C (p.Gly1651Ala) c.4916G>C (p.Gly1639Ala) c.5042G>C (p.Gly1681Ala) c.4970G>C (p.Gly1657Ala) c.4958G>C (p.Gly1653Ala) | |
| X | g.108157085C>T | CA413848105 | COL4A6 | c.4988G>A (p.Gly1663Glu) c.4991G>A (p.Gly1664Glu) c.5039G>A (p.Gly1680Glu) c.4817G>A (p.Gly1606Glu) c.4952G>A (p.Gly1651Glu) c.4916G>A (p.Gly1639Glu) c.5042G>A (p.Gly1681Glu) c.4970G>A (p.Gly1657Glu) c.4958G>A (p.Gly1653Glu) | |
| X | g.108157086C>A | CA413848108 | COL4A6 | c.4987G>T (p.Gly1663Trp) c.4990G>T (p.Gly1664Trp) c.5038G>T (p.Gly1680Trp) c.4816G>T (p.Gly1606Trp) c.4951G>T (p.Gly1651Trp) c.4915G>T (p.Gly1639Trp) c.5041G>T (p.Gly1681Trp) c.4969G>T (p.Gly1657Trp) c.4957G>T (p.Gly1653Trp) | |
| X | g.108157086C>G | CA413848110 | COL4A6 | c.4987G>C (p.Gly1663Arg) c.4990G>C (p.Gly1664Arg) c.5038G>C (p.Gly1680Arg) c.4816G>C (p.Gly1606Arg) c.4951G>C (p.Gly1651Arg) c.4915G>C (p.Gly1639Arg) c.5041G>C (p.Gly1681Arg) c.4969G>C (p.Gly1657Arg) c.4957G>C (p.Gly1653Arg) | |
| X | g.108157086C>T | CA413848112 | COL4A6 | c.4987G>A (p.Gly1663Arg) c.4990G>A (p.Gly1664Arg) c.5038G>A (p.Gly1680Arg) c.4816G>A (p.Gly1606Arg) c.4951G>A (p.Gly1651Arg) c.4915G>A (p.Gly1639Arg) c.5041G>A (p.Gly1681Arg) c.4969G>A (p.Gly1657Arg) c.4957G>A (p.Gly1653Arg) | |
| X | g.108157087A>C | CA413848114 | COL4A6 | c.4986T>G (p.Phe1662Leu) c.4989T>G (p.Phe1663Leu) c.5037T>G (p.Phe1679Leu) c.4815T>G (p.Phe1605Leu) c.4950T>G (p.Phe1650Leu) c.4914T>G (p.Phe1638Leu) c.5040T>G (p.Phe1680Leu) c.4968T>G (p.Phe1656Leu) c.4956T>G (p.Phe1652Leu) | |
| X | g.108157087A>G | CA518100735 | COL4A6 | c.4986T>C (p.Phe1662=) c.4989T>C (p.Phe1663=) c.5037T>C (p.Phe1679=) c.4815T>C (p.Phe1605=) c.4950T>C (p.Phe1650=) c.4914T>C (p.Phe1638=) c.5040T>C (p.Phe1680=) c.4968T>C (p.Phe1656=) c.4956T>C (p.Phe1652=) | |
| X | g.108157087A>T | CA413848115 | COL4A6 | c.4986T>A (p.Phe1662Leu) c.4989T>A (p.Phe1663Leu) c.5037T>A (p.Phe1679Leu) c.4815T>A (p.Phe1605Leu) c.4950T>A (p.Phe1650Leu) c.4914T>A (p.Phe1638Leu) c.5040T>A (p.Phe1680Leu) c.4968T>A (p.Phe1656Leu) c.4956T>A (p.Phe1652Leu) | |
| X | g.108157088A= | CA2450541952 | COL4A6 | c.4985T= (p.Phe1662=) c.4988T= (p.Phe1663=) c.5036T= (p.Phe1679=) c.4814T= (p.Phe1605=) c.4949T= (p.Phe1650=) c.4913T= (p.Phe1638=) c.5039T= (p.Phe1680=) c.4967T= (p.Phe1656=) c.4955T= (p.Phe1652=) | |
| X | g.108157088A>C | CA413848117 | COL4A6 | c.4985T>G (p.Phe1662Cys) c.4988T>G (p.Phe1663Cys) c.5036T>G (p.Phe1679Cys) c.4814T>G (p.Phe1605Cys) c.4949T>G (p.Phe1650Cys) c.4913T>G (p.Phe1638Cys) c.5039T>G (p.Phe1680Cys) c.4967T>G (p.Phe1656Cys) c.4955T>G (p.Phe1652Cys) | |
| X | g.108157088A>G | CA413848119 | COL4A6 | c.4985T>C (p.Phe1662Ser) c.4988T>C (p.Phe1663Ser) c.5036T>C (p.Phe1679Ser) c.4814T>C (p.Phe1605Ser) c.4949T>C (p.Phe1650Ser) c.4913T>C (p.Phe1638Ser) c.5039T>C (p.Phe1680Ser) c.4967T>C (p.Phe1656Ser) c.4955T>C (p.Phe1652Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157088A>T | CA413848120 | COL4A6 | c.4985T>A (p.Phe1662Tyr) c.4988T>A (p.Phe1663Tyr) c.5036T>A (p.Phe1679Tyr) c.4814T>A (p.Phe1605Tyr) c.4949T>A (p.Phe1650Tyr) c.4913T>A (p.Phe1638Tyr) c.5039T>A (p.Phe1680Tyr) c.4967T>A (p.Phe1656Tyr) c.4955T>A (p.Phe1652Tyr) | |
| X | g.108157089A>C | CA413848123 | COL4A6 | c.4984T>G (p.Phe1662Val) c.4987T>G (p.Phe1663Val) c.5035T>G (p.Phe1679Val) c.4813T>G (p.Phe1605Val) c.4948T>G (p.Phe1650Val) c.4912T>G (p.Phe1638Val) c.5038T>G (p.Phe1680Val) c.4966T>G (p.Phe1656Val) c.4954T>G (p.Phe1652Val) | |
| X | g.108157089A>G | CA413848124 | COL4A6 | c.4984T>C (p.Phe1662Leu) c.4987T>C (p.Phe1663Leu) c.5035T>C (p.Phe1679Leu) c.4813T>C (p.Phe1605Leu) c.4948T>C (p.Phe1650Leu) c.4912T>C (p.Phe1638Leu) c.5038T>C (p.Phe1680Leu) c.4966T>C (p.Phe1656Leu) c.4954T>C (p.Phe1652Leu) | |
| X | g.108157089A>T | CA413848126 | COL4A6 | c.4984T>A (p.Phe1662Ile) c.4987T>A (p.Phe1663Ile) c.5035T>A (p.Phe1679Ile) c.4813T>A (p.Phe1605Ile) c.4948T>A (p.Phe1650Ile) c.4912T>A (p.Phe1638Ile) c.5038T>A (p.Phe1680Ile) c.4966T>A (p.Phe1656Ile) c.4954T>A (p.Phe1652Ile) | |
| X | g.108157090C>A | CA413848129 | COL4A6 | c.4983G>T (p.Gln1661His) c.4986G>T (p.Gln1662His) c.5034G>T (p.Gln1678His) c.4812G>T (p.Gln1604His) c.4947G>T (p.Gln1649His) c.4911G>T (p.Gln1637His) c.5037G>T (p.Gln1679His) c.4965G>T (p.Gln1655His) c.4953G>T (p.Gln1651His) | |
| X | g.108157090C>G | CA413848127 | COL4A6 | c.4983G>C (p.Gln1661His) c.4986G>C (p.Gln1662His) c.5034G>C (p.Gln1678His) c.4812G>C (p.Gln1604His) c.4947G>C (p.Gln1649His) c.4911G>C (p.Gln1637His) c.5037G>C (p.Gln1679His) c.4965G>C (p.Gln1655His) c.4953G>C (p.Gln1651His) | |
| X | g.108157090C>T | CA518100740 | COL4A6 | c.4983G>A (p.Gln1661=) c.4986G>A (p.Gln1662=) c.5034G>A (p.Gln1678=) c.4812G>A (p.Gln1604=) c.4947G>A (p.Gln1649=) c.4911G>A (p.Gln1637=) c.5037G>A (p.Gln1679=) c.4965G>A (p.Gln1655=) c.4953G>A (p.Gln1651=) | |
| X | g.108157091T>A | CA413848131 | COL4A6 | c.4982A>T (p.Gln1661Leu) c.4985A>T (p.Gln1662Leu) c.5033A>T (p.Gln1678Leu) c.4811A>T (p.Gln1604Leu) c.4946A>T (p.Gln1649Leu) c.4910A>T (p.Gln1637Leu) c.5036A>T (p.Gln1679Leu) c.4964A>T (p.Gln1655Leu) c.4952A>T (p.Gln1651Leu) | |
| X | g.108157091T>C | CA413848134 | COL4A6 | c.4982A>G (p.Gln1661Arg) c.4985A>G (p.Gln1662Arg) c.5033A>G (p.Gln1678Arg) c.4811A>G (p.Gln1604Arg) c.4946A>G (p.Gln1649Arg) c.4910A>G (p.Gln1637Arg) c.5036A>G (p.Gln1679Arg) c.4964A>G (p.Gln1655Arg) c.4952A>G (p.Gln1651Arg) | |
| X | g.108157091T>G | CA413848132 | COL4A6 | c.4982A>C (p.Gln1661Pro) c.4985A>C (p.Gln1662Pro) c.5033A>C (p.Gln1678Pro) c.4811A>C (p.Gln1604Pro) c.4946A>C (p.Gln1649Pro) c.4910A>C (p.Gln1637Pro) c.5036A>C (p.Gln1679Pro) c.4964A>C (p.Gln1655Pro) c.4952A>C (p.Gln1651Pro) | |
| X | g.108157092G>A | CA413848137 | COL4A6 | c.4981C>T (p.Gln1661Ter) c.4984C>T (p.Gln1662Ter) c.5032C>T (p.Gln1678Ter) c.4810C>T (p.Gln1604Ter) c.4945C>T (p.Gln1649Ter) c.4909C>T (p.Gln1637Ter) c.5035C>T (p.Gln1679Ter) c.4963C>T (p.Gln1655Ter) c.4951C>T (p.Gln1651Ter) | |
| X | g.108157092G>C | CA413848138 | COL4A6 | c.4981C>G (p.Gln1661Glu) c.4984C>G (p.Gln1662Glu) c.5032C>G (p.Gln1678Glu) c.4810C>G (p.Gln1604Glu) c.4945C>G (p.Gln1649Glu) c.4909C>G (p.Gln1637Glu) c.5035C>G (p.Gln1679Glu) c.4963C>G (p.Gln1655Glu) c.4951C>G (p.Gln1651Glu) | |
| X | g.108157092G= | CA2450541953 | COL4A6 | c.4981C= (p.Gln1661=) c.4984C= (p.Gln1662=) c.5032C= (p.Gln1678=) c.4810C= (p.Gln1604=) c.4945C= (p.Gln1649=) c.4909C= (p.Gln1637=) c.5035C= (p.Gln1679=) c.4963C= (p.Gln1655=) c.4951C= (p.Gln1651=) | |
| X | g.108157092G>T | CA334033925 | COL4A6 | c.4981C>A (p.Gln1661Lys) c.4984C>A (p.Gln1662Lys) c.5032C>A (p.Gln1678Lys) c.4810C>A (p.Gln1604Lys) c.4945C>A (p.Gln1649Lys) c.4909C>A (p.Gln1637Lys) c.5035C>A (p.Gln1679Lys) c.4963C>A (p.Gln1655Lys) c.4951C>A (p.Gln1651Lys) | dbSNP gnomAD v4 |
| X | g.108157093C>A | CA413848141 | COL4A6 | c.4980G>T (p.Gln1660His) c.4983G>T (p.Gln1661His) c.5031G>T (p.Gln1677His) c.4809G>T (p.Gln1603His) c.4944G>T (p.Gln1648His) c.4908G>T (p.Gln1636His) c.5034G>T (p.Gln1678His) c.4962G>T (p.Gln1654His) c.4950G>T (p.Gln1650His) | |
| X | g.108157093C>G | CA413848143 | COL4A6 | c.4980G>C (p.Gln1660His) c.4983G>C (p.Gln1661His) c.5031G>C (p.Gln1677His) c.4809G>C (p.Gln1603His) c.4944G>C (p.Gln1648His) c.4908G>C (p.Gln1636His) c.5034G>C (p.Gln1678His) c.4962G>C (p.Gln1654His) c.4950G>C (p.Gln1650His) | |
| X | g.108157093C>T | CA518100746 | COL4A6 | c.4980G>A (p.Gln1660=) c.4983G>A (p.Gln1661=) c.5031G>A (p.Gln1677=) c.4809G>A (p.Gln1603=) c.4944G>A (p.Gln1648=) c.4908G>A (p.Gln1636=) c.5034G>A (p.Gln1678=) c.4962G>A (p.Gln1654=) c.4950G>A (p.Gln1650=) | |
| X | g.108157094T>A | CA413848145 | COL4A6 | c.4979A>T (p.Gln1660Leu) c.4982A>T (p.Gln1661Leu) c.5030A>T (p.Gln1677Leu) c.4808A>T (p.Gln1603Leu) c.4943A>T (p.Gln1648Leu) c.4907A>T (p.Gln1636Leu) c.5033A>T (p.Gln1678Leu) c.4961A>T (p.Gln1654Leu) c.4949A>T (p.Gln1650Leu) | |
| X | g.108157094T>C | CA413848147 | COL4A6 | c.4979A>G (p.Gln1660Arg) c.4982A>G (p.Gln1661Arg) c.5030A>G (p.Gln1677Arg) c.4808A>G (p.Gln1603Arg) c.4943A>G (p.Gln1648Arg) c.4907A>G (p.Gln1636Arg) c.5033A>G (p.Gln1678Arg) c.4961A>G (p.Gln1654Arg) c.4949A>G (p.Gln1650Arg) | |
| X | g.108157094T>G | CA413848149 | COL4A6 | c.4979A>C (p.Gln1660Pro) c.4982A>C (p.Gln1661Pro) c.5030A>C (p.Gln1677Pro) c.4808A>C (p.Gln1603Pro) c.4943A>C (p.Gln1648Pro) c.4907A>C (p.Gln1636Pro) c.5033A>C (p.Gln1678Pro) c.4961A>C (p.Gln1654Pro) c.4949A>C (p.Gln1650Pro) | |
| X | g.108157095G>A | CA413848150 | COL4A6 | c.4978C>T (p.Gln1660Ter) c.4981C>T (p.Gln1661Ter) c.5029C>T (p.Gln1677Ter) c.4807C>T (p.Gln1603Ter) c.4942C>T (p.Gln1648Ter) c.4906C>T (p.Gln1636Ter) c.5032C>T (p.Gln1678Ter) c.4960C>T (p.Gln1654Ter) c.4948C>T (p.Gln1650Ter) | |
| X | g.108157095G>C | CA413848152 | COL4A6 | c.4978C>G (p.Gln1660Glu) c.4981C>G (p.Gln1661Glu) c.5029C>G (p.Gln1677Glu) c.4807C>G (p.Gln1603Glu) c.4942C>G (p.Gln1648Glu) c.4906C>G (p.Gln1636Glu) c.5032C>G (p.Gln1678Glu) c.4960C>G (p.Gln1654Glu) c.4948C>G (p.Gln1650Glu) | |
| X | g.108157095G>T | CA413848154 | COL4A6 | c.4978C>A (p.Gln1660Lys) c.4981C>A (p.Gln1661Lys) c.5029C>A (p.Gln1677Lys) c.4807C>A (p.Gln1603Lys) c.4942C>A (p.Gln1648Lys) c.4906C>A (p.Gln1636Lys) c.5032C>A (p.Gln1678Lys) c.4960C>A (p.Gln1654Lys) c.4948C>A (p.Gln1650Lys) | |
| X | g.108157096C>A | CA413848155 | COL4A6 | c.4977G>T (p.Arg1659Ser) c.4980G>T (p.Arg1660Ser) c.5028G>T (p.Arg1676Ser) c.4806G>T (p.Arg1602Ser) c.4941G>T (p.Arg1647Ser) c.4905G>T (p.Arg1635Ser) c.5031G>T (p.Arg1677Ser) c.4959G>T (p.Arg1653Ser) c.4947G>T (p.Arg1649Ser) | |
| X | g.108157096C= | CA2450541954 | COL4A6 | c.4977G= (p.Arg1659=) c.4980G= (p.Arg1660=) c.5028G= (p.Arg1676=) c.4806G= (p.Arg1602=) c.4941G= (p.Arg1647=) c.4905G= (p.Arg1635=) c.5031G= (p.Arg1677=) c.4959G= (p.Arg1653=) c.4947G= (p.Arg1649=) | |
| X | g.108157096C>G | CA413848157 | COL4A6 | c.4977G>C (p.Arg1659Ser) c.4980G>C (p.Arg1660Ser) c.5028G>C (p.Arg1676Ser) c.4806G>C (p.Arg1602Ser) c.4941G>C (p.Arg1647Ser) c.4905G>C (p.Arg1635Ser) c.5031G>C (p.Arg1677Ser) c.4959G>C (p.Arg1653Ser) c.4947G>C (p.Arg1649Ser) | |
| X | g.108157096C>T | CA518100752 | COL4A6 | c.4977G>A (p.Arg1659=) c.4980G>A (p.Arg1660=) c.5028G>A (p.Arg1676=) c.4806G>A (p.Arg1602=) c.4941G>A (p.Arg1647=) c.4905G>A (p.Arg1635=) c.5031G>A (p.Arg1677=) c.4959G>A (p.Arg1653=) c.4947G>A (p.Arg1649=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157097C>A | CA413848159 | COL4A6 | c.4976G>T (p.Arg1659Met) c.4979G>T (p.Arg1660Met) c.5027G>T (p.Arg1676Met) c.4805G>T (p.Arg1602Met) c.4940G>T (p.Arg1647Met) c.4904G>T (p.Arg1635Met) c.5030G>T (p.Arg1677Met) c.4958G>T (p.Arg1653Met) c.4946G>T (p.Arg1649Met) | |
| X | g.108157097C>G | CA413848163 | COL4A6 | c.4976G>C (p.Arg1659Thr) c.4979G>C (p.Arg1660Thr) c.5027G>C (p.Arg1676Thr) c.4805G>C (p.Arg1602Thr) c.4940G>C (p.Arg1647Thr) c.4904G>C (p.Arg1635Thr) c.5030G>C (p.Arg1677Thr) c.4958G>C (p.Arg1653Thr) c.4946G>C (p.Arg1649Thr) | |
| X | g.108157097C>T | CA413848161 | COL4A6 | c.4976G>A (p.Arg1659Lys) c.4979G>A (p.Arg1660Lys) c.5027G>A (p.Arg1676Lys) c.4805G>A (p.Arg1602Lys) c.4940G>A (p.Arg1647Lys) c.4904G>A (p.Arg1635Lys) c.5030G>A (p.Arg1677Lys) c.4958G>A (p.Arg1653Lys) c.4946G>A (p.Arg1649Lys) | |
| X | g.108157098T>A | CA413848165 | COL4A6 | c.4975A>T (p.Arg1659Trp) c.4978A>T (p.Arg1660Trp) c.5026A>T (p.Arg1676Trp) c.4804A>T (p.Arg1602Trp) c.4939A>T (p.Arg1647Trp) c.4903A>T (p.Arg1635Trp) c.5029A>T (p.Arg1677Trp) c.4957A>T (p.Arg1653Trp) c.4945A>T (p.Arg1649Trp) | |
| X | g.108157098T>C | CA413848166 | COL4A6 | c.4975A>G (p.Arg1659Gly) c.4978A>G (p.Arg1660Gly) c.5026A>G (p.Arg1676Gly) c.4804A>G (p.Arg1602Gly) c.4939A>G (p.Arg1647Gly) c.4903A>G (p.Arg1635Gly) c.5029A>G (p.Arg1677Gly) c.4957A>G (p.Arg1653Gly) c.4945A>G (p.Arg1649Gly) | gnomAD v4 |
| X | g.108157098T>G | CA518100753 | COL4A6 | c.4975A>C (p.Arg1659=) c.4978A>C (p.Arg1660=) c.5026A>C (p.Arg1676=) c.4804A>C (p.Arg1602=) c.4939A>C (p.Arg1647=) c.4903A>C (p.Arg1635=) c.5029A>C (p.Arg1677=) c.4957A>C (p.Arg1653=) c.4945A>C (p.Arg1649=) | |
| X | g.108157098_108157101delinsTCTC | CA2450541955 | COL4A6 | c.4972_4975delinsGAGA (p.Glu1658=) c.4975_4978delinsGAGA (p.Glu1659=) c.5023_5026delinsGAGA (p.Glu1675=) c.4801_4804delinsGAGA (p.Glu1601=) c.4936_4939delinsGAGA (p.Glu1646=) c.4900_4903delinsGAGA (p.Glu1634=) c.5026_5029delinsGAGA (p.Glu1676=) c.4954_4957delinsGAGA (p.Glu1652=) c.4942_4945delinsGAGA (p.Glu1648=) | |
| X | g.108157099C>A | CA413848169 | COL4A6 | c.4974G>T (p.Glu1658Asp) c.4977G>T (p.Glu1659Asp) c.5025G>T (p.Glu1675Asp) c.4803G>T (p.Glu1601Asp) c.4938G>T (p.Glu1646Asp) c.4902G>T (p.Glu1634Asp) c.5028G>T (p.Glu1676Asp) c.4956G>T (p.Glu1652Asp) c.4944G>T (p.Glu1648Asp) | |
| X | g.108157099C= | CA2450541956 | COL4A6 | c.4974G= (p.Glu1658=) c.4977G= (p.Glu1659=) c.5025G= (p.Glu1675=) c.4803G= (p.Glu1601=) c.4938G= (p.Glu1646=) c.4902G= (p.Glu1634=) c.5028G= (p.Glu1676=) c.4956G= (p.Glu1652=) c.4944G= (p.Glu1648=) | |
| X | g.108157099C>G | CA413848170 | COL4A6 | c.4974G>C (p.Glu1658Asp) c.4977G>C (p.Glu1659Asp) c.5025G>C (p.Glu1675Asp) c.4803G>C (p.Glu1601Asp) c.4938G>C (p.Glu1646Asp) c.4902G>C (p.Glu1634Asp) c.5028G>C (p.Glu1676Asp) c.4956G>C (p.Glu1652Asp) c.4944G>C (p.Glu1648Asp) | |
| X | g.108157099C>T | CA10487081 | COL4A6 | c.4974G>A (p.Glu1658=) c.4977G>A (p.Glu1659=) c.5025G>A (p.Glu1675=) c.4803G>A (p.Glu1601=) c.4938G>A (p.Glu1646=) c.4902G>A (p.Glu1634=) c.5028G>A (p.Glu1676=) c.4956G>A (p.Glu1652=) c.4944G>A (p.Glu1648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157103_108157105del | CA518100754 | COL4A6 | c.4972_4974del (p.Glu1658del) c.4975_4977del (p.Glu1659del) c.5023_5025del (p.Glu1675del) c.4801_4803del (p.Glu1601del) c.4936_4938del (p.Glu1646del) c.4900_4902del (p.Glu1634del) c.5026_5028del (p.Glu1676del) c.4954_4956del (p.Glu1652del) c.4942_4944del (p.Glu1648del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157100T>A | CA413848173 | COL4A6 | c.4973A>T (p.Glu1658Val) c.4976A>T (p.Glu1659Val) c.5024A>T (p.Glu1675Val) c.4802A>T (p.Glu1601Val) c.4937A>T (p.Glu1646Val) c.4901A>T (p.Glu1634Val) c.5027A>T (p.Glu1676Val) c.4955A>T (p.Glu1652Val) c.4943A>T (p.Glu1648Val) | |
| X | g.108157100T>C | CA413848175 | COL4A6 | c.4973A>G (p.Glu1658Gly) c.4976A>G (p.Glu1659Gly) c.5024A>G (p.Glu1675Gly) c.4802A>G (p.Glu1601Gly) c.4937A>G (p.Glu1646Gly) c.4901A>G (p.Glu1634Gly) c.5027A>G (p.Glu1676Gly) c.4955A>G (p.Glu1652Gly) c.4943A>G (p.Glu1648Gly) | |
| X | g.108157100T>G | CA413848177 | COL4A6 | c.4973A>C (p.Glu1658Ala) c.4976A>C (p.Glu1659Ala) c.5024A>C (p.Glu1675Ala) c.4802A>C (p.Glu1601Ala) c.4937A>C (p.Glu1646Ala) c.4901A>C (p.Glu1634Ala) c.5027A>C (p.Glu1676Ala) c.4955A>C (p.Glu1652Ala) c.4943A>C (p.Glu1648Ala) | |
| X | g.108157101C>A | CA413848179 | COL4A6 | c.4972G>T (p.Glu1658Ter) c.4975G>T (p.Glu1659Ter) c.5023G>T (p.Glu1675Ter) c.4801G>T (p.Glu1601Ter) c.4936G>T (p.Glu1646Ter) c.4900G>T (p.Glu1634Ter) c.5026G>T (p.Glu1676Ter) c.4954G>T (p.Glu1652Ter) c.4942G>T (p.Glu1648Ter) | gnomAD v4 |
| X | g.108157101C>G | CA413848181 | COL4A6 | c.4972G>C (p.Glu1658Gln) c.4975G>C (p.Glu1659Gln) c.5023G>C (p.Glu1675Gln) c.4801G>C (p.Glu1601Gln) c.4936G>C (p.Glu1646Gln) c.4900G>C (p.Glu1634Gln) c.5026G>C (p.Glu1676Gln) c.4954G>C (p.Glu1652Gln) c.4942G>C (p.Glu1648Gln) | |
| X | g.108157101C>T | CA413848183 | COL4A6 | c.4972G>A (p.Glu1658Lys) c.4975G>A (p.Glu1659Lys) c.5023G>A (p.Glu1675Lys) c.4801G>A (p.Glu1601Lys) c.4936G>A (p.Glu1646Lys) c.4900G>A (p.Glu1634Lys) c.5026G>A (p.Glu1676Lys) c.4954G>A (p.Glu1652Lys) c.4942G>A (p.Glu1648Lys) | gnomAD v4 |
| X | g.108157102C>A | CA413848184 | COL4A6 | c.4971G>T (p.Glu1657Asp) c.4974G>T (p.Glu1658Asp) c.5022G>T (p.Glu1674Asp) c.4800G>T (p.Glu1600Asp) c.4935G>T (p.Glu1645Asp) c.4899G>T (p.Glu1633Asp) c.5025G>T (p.Glu1675Asp) c.4953G>T (p.Glu1651Asp) c.4941G>T (p.Glu1647Asp) | |
| X | g.108157102C>G | CA413848186 | COL4A6 | c.4971G>C (p.Glu1657Asp) c.4974G>C (p.Glu1658Asp) c.5022G>C (p.Glu1674Asp) c.4800G>C (p.Glu1600Asp) c.4935G>C (p.Glu1645Asp) c.4899G>C (p.Glu1633Asp) c.5025G>C (p.Glu1675Asp) c.4953G>C (p.Glu1651Asp) c.4941G>C (p.Glu1647Asp) | |
| X | g.108157102C>T | CA518100757 | COL4A6 | c.4971G>A (p.Glu1657=) c.4974G>A (p.Glu1658=) c.5022G>A (p.Glu1674=) c.4800G>A (p.Glu1600=) c.4935G>A (p.Glu1645=) c.4899G>A (p.Glu1633=) c.5025G>A (p.Glu1675=) c.4953G>A (p.Glu1651=) c.4941G>A (p.Glu1647=) | |
| X | g.108157103T>A | CA413848188 | COL4A6 | c.4970A>T (p.Glu1657Val) c.4973A>T (p.Glu1658Val) c.5021A>T (p.Glu1674Val) c.4799A>T (p.Glu1600Val) c.4934A>T (p.Glu1645Val) c.4898A>T (p.Glu1633Val) c.5024A>T (p.Glu1675Val) c.4952A>T (p.Glu1651Val) c.4940A>T (p.Glu1647Val) | |
| X | g.108157103T>C | CA413848190 | COL4A6 | c.4970A>G (p.Glu1657Gly) c.4973A>G (p.Glu1658Gly) c.5021A>G (p.Glu1674Gly) c.4799A>G (p.Glu1600Gly) c.4934A>G (p.Glu1645Gly) c.4898A>G (p.Glu1633Gly) c.5024A>G (p.Glu1675Gly) c.4952A>G (p.Glu1651Gly) c.4940A>G (p.Glu1647Gly) | |
| X | g.108157103T>G | CA413848191 | COL4A6 | c.4970A>C (p.Glu1657Ala) c.4973A>C (p.Glu1658Ala) c.5021A>C (p.Glu1674Ala) c.4799A>C (p.Glu1600Ala) c.4934A>C (p.Glu1645Ala) c.4898A>C (p.Glu1633Ala) c.5024A>C (p.Glu1675Ala) c.4952A>C (p.Glu1651Ala) c.4940A>C (p.Glu1647Ala) | |
| X | g.108157104C>A | CA413848194 | COL4A6 | c.4969G>T (p.Glu1657Ter) c.4972G>T (p.Glu1658Ter) c.5020G>T (p.Glu1674Ter) c.4798G>T (p.Glu1600Ter) c.4933G>T (p.Glu1645Ter) c.4897G>T (p.Glu1633Ter) c.5023G>T (p.Glu1675Ter) c.4951G>T (p.Glu1651Ter) c.4939G>T (p.Glu1647Ter) | gnomAD v3 gnomAD v4 |
| X | g.108157104C= | CA2450541957 | COL4A6 | c.4969G= (p.Glu1657=) c.4972G= (p.Glu1658=) c.5020G= (p.Glu1674=) c.4798G= (p.Glu1600=) c.4933G= (p.Glu1645=) c.4897G= (p.Glu1633=) c.5023G= (p.Glu1675=) c.4951G= (p.Glu1651=) c.4939G= (p.Glu1647=) | |
| X | g.108157104C>G | CA413848195 | COL4A6 | c.4969G>C (p.Glu1657Gln) c.4972G>C (p.Glu1658Gln) c.5020G>C (p.Glu1674Gln) c.4798G>C (p.Glu1600Gln) c.4933G>C (p.Glu1645Gln) c.4897G>C (p.Glu1633Gln) c.5023G>C (p.Glu1675Gln) c.4951G>C (p.Glu1651Gln) c.4939G>C (p.Glu1647Gln) | |
| X | g.108157104C>T | CA413848197 | COL4A6 | c.4969G>A (p.Glu1657Lys) c.4972G>A (p.Glu1658Lys) c.5020G>A (p.Glu1674Lys) c.4798G>A (p.Glu1600Lys) c.4933G>A (p.Glu1645Lys) c.4897G>A (p.Glu1633Lys) c.5023G>A (p.Glu1675Lys) c.4951G>A (p.Glu1651Lys) c.4939G>A (p.Glu1647Lys) | dbSNP |
| X | g.108157105C>A | CA518100761 | COL4A6 | c.4968G>T (p.Val1656=) c.4971G>T (p.Val1657=) c.5019G>T (p.Val1673=) c.4797G>T (p.Val1599=) c.4932G>T (p.Val1644=) c.4896G>T (p.Val1632=) c.5022G>T (p.Val1674=) c.4950G>T (p.Val1650=) c.4938G>T (p.Val1646=) | |
| X | g.108157105C>G | CA518100762 | COL4A6 | c.4968G>C (p.Val1656=) c.4971G>C (p.Val1657=) c.5019G>C (p.Val1673=) c.4797G>C (p.Val1599=) c.4932G>C (p.Val1644=) c.4896G>C (p.Val1632=) c.5022G>C (p.Val1674=) c.4950G>C (p.Val1650=) c.4938G>C (p.Val1646=) | |
| X | g.108157105C>T | CA518100764 | COL4A6 | c.4968G>A (p.Val1656=) c.4971G>A (p.Val1657=) c.5019G>A (p.Val1673=) c.4797G>A (p.Val1599=) c.4932G>A (p.Val1644=) c.4896G>A (p.Val1632=) c.5022G>A (p.Val1674=) c.4950G>A (p.Val1650=) c.4938G>A (p.Val1646=) | |
| X | g.108157106A>C | CA413848199 | COL4A6 | c.4967T>G (p.Val1656Gly) c.4970T>G (p.Val1657Gly) c.5018T>G (p.Val1673Gly) c.4796T>G (p.Val1599Gly) c.4931T>G (p.Val1644Gly) c.4895T>G (p.Val1632Gly) c.5021T>G (p.Val1674Gly) c.4949T>G (p.Val1650Gly) c.4937T>G (p.Val1646Gly) | |
| X | g.108157106A>G | CA413848201 | COL4A6 | c.4967T>C (p.Val1656Ala) c.4970T>C (p.Val1657Ala) c.5018T>C (p.Val1673Ala) c.4796T>C (p.Val1599Ala) c.4931T>C (p.Val1644Ala) c.4895T>C (p.Val1632Ala) c.5021T>C (p.Val1674Ala) c.4949T>C (p.Val1650Ala) c.4937T>C (p.Val1646Ala) | |
| X | g.108157106A>T | CA413848203 | COL4A6 | c.4967T>A (p.Val1656Glu) c.4970T>A (p.Val1657Glu) c.5018T>A (p.Val1673Glu) c.4796T>A (p.Val1599Glu) c.4931T>A (p.Val1644Glu) c.4895T>A (p.Val1632Glu) c.5021T>A (p.Val1674Glu) c.4949T>A (p.Val1650Glu) c.4937T>A (p.Val1646Glu) | |
| X | g.108157107C>A | CA413848205 | COL4A6 | c.4966G>T (p.Val1656Leu) c.4969G>T (p.Val1657Leu) c.5017G>T (p.Val1673Leu) c.4795G>T (p.Val1599Leu) c.4930G>T (p.Val1644Leu) c.4894G>T (p.Val1632Leu) c.5020G>T (p.Val1674Leu) c.4948G>T (p.Val1650Leu) c.4936G>T (p.Val1646Leu) | |
| X | g.108157107C>G | CA413848207 | COL4A6 | c.4966G>C (p.Val1656Leu) c.4969G>C (p.Val1657Leu) c.5017G>C (p.Val1673Leu) c.4795G>C (p.Val1599Leu) c.4930G>C (p.Val1644Leu) c.4894G>C (p.Val1632Leu) c.5020G>C (p.Val1674Leu) c.4948G>C (p.Val1650Leu) c.4936G>C (p.Val1646Leu) | |
| X | g.108157107C>T | CA413848209 | COL4A6 | c.4966G>A (p.Val1656Met) c.4969G>A (p.Val1657Met) c.5017G>A (p.Val1673Met) c.4795G>A (p.Val1599Met) c.4930G>A (p.Val1644Met) c.4894G>A (p.Val1632Met) c.5020G>A (p.Val1674Met) c.4948G>A (p.Val1650Met) c.4936G>A (p.Val1646Met) | |
| X | g.108157108T>A | CA518100767 | COL4A6 | c.4965A>T (p.Thr1655=) c.4968A>T (p.Thr1656=) c.5016A>T (p.Thr1672=) c.4794A>T (p.Thr1598=) c.4929A>T (p.Thr1643=) c.4893A>T (p.Thr1631=) c.5019A>T (p.Thr1673=) c.4947A>T (p.Thr1649=) c.4935A>T (p.Thr1645=) | |
| X | g.108157108T>C | CA518100768 | COL4A6 | c.4965A>G (p.Thr1655=) c.4968A>G (p.Thr1656=) c.5016A>G (p.Thr1672=) c.4794A>G (p.Thr1598=) c.4929A>G (p.Thr1643=) c.4893A>G (p.Thr1631=) c.5019A>G (p.Thr1673=) c.4947A>G (p.Thr1649=) c.4935A>G (p.Thr1645=) | |
| X | g.108157108T>G | CA518100769 | COL4A6 | c.4965A>C (p.Thr1655=) c.4968A>C (p.Thr1656=) c.5016A>C (p.Thr1672=) c.4794A>C (p.Thr1598=) c.4929A>C (p.Thr1643=) c.4893A>C (p.Thr1631=) c.5019A>C (p.Thr1673=) c.4947A>C (p.Thr1649=) c.4935A>C (p.Thr1645=) | |
| X | g.108157109G>A | CA413848212 | COL4A6 | c.4964C>T (p.Thr1655Ile) c.4967C>T (p.Thr1656Ile) c.5015C>T (p.Thr1672Ile) c.4793C>T (p.Thr1598Ile) c.4928C>T (p.Thr1643Ile) c.4892C>T (p.Thr1631Ile) c.5018C>T (p.Thr1673Ile) c.4946C>T (p.Thr1649Ile) c.4934C>T (p.Thr1645Ile) | |
| X | g.108157109G>C | CA413848214 | COL4A6 | c.4964C>G (p.Thr1655Arg) c.4967C>G (p.Thr1656Arg) c.5015C>G (p.Thr1672Arg) c.4793C>G (p.Thr1598Arg) c.4928C>G (p.Thr1643Arg) c.4892C>G (p.Thr1631Arg) c.5018C>G (p.Thr1673Arg) c.4946C>G (p.Thr1649Arg) c.4934C>G (p.Thr1645Arg) | |
| X | g.108157109G>T | CA413848211 | COL4A6 | c.4964C>A (p.Thr1655Lys) c.4967C>A (p.Thr1656Lys) c.5015C>A (p.Thr1672Lys) c.4793C>A (p.Thr1598Lys) c.4928C>A (p.Thr1643Lys) c.4892C>A (p.Thr1631Lys) c.5018C>A (p.Thr1673Lys) c.4946C>A (p.Thr1649Lys) c.4934C>A (p.Thr1645Lys) | |
| X | g.108157110T>A | CA413848216 | COL4A6 | c.4963A>T (p.Thr1655Ser) c.4966A>T (p.Thr1656Ser) c.5014A>T (p.Thr1672Ser) c.4792A>T (p.Thr1598Ser) c.4927A>T (p.Thr1643Ser) c.4891A>T (p.Thr1631Ser) c.5017A>T (p.Thr1673Ser) c.4945A>T (p.Thr1649Ser) c.4933A>T (p.Thr1645Ser) | |
| X | g.108157110T>C | CA413848218 | COL4A6 | c.4963A>G (p.Thr1655Ala) c.4966A>G (p.Thr1656Ala) c.5014A>G (p.Thr1672Ala) c.4792A>G (p.Thr1598Ala) c.4927A>G (p.Thr1643Ala) c.4891A>G (p.Thr1631Ala) c.5017A>G (p.Thr1673Ala) c.4945A>G (p.Thr1649Ala) c.4933A>G (p.Thr1645Ala) | gnomAD v4 |
| X | g.108157110T>G | CA413848219 | COL4A6 | c.4963A>C (p.Thr1655Pro) c.4966A>C (p.Thr1656Pro) c.5014A>C (p.Thr1672Pro) c.4792A>C (p.Thr1598Pro) c.4927A>C (p.Thr1643Pro) c.4891A>C (p.Thr1631Pro) c.5017A>C (p.Thr1673Pro) c.4945A>C (p.Thr1649Pro) c.4933A>C (p.Thr1645Pro) | |
| X | g.108157111G>A | CA518100771 | COL4A6 | c.4962C>T (p.Thr1654=) c.4965C>T (p.Thr1655=) c.5013C>T (p.Thr1671=) c.4791C>T (p.Thr1597=) c.4926C>T (p.Thr1642=) c.4890C>T (p.Thr1630=) c.5016C>T (p.Thr1672=) c.4944C>T (p.Thr1648=) c.4932C>T (p.Thr1644=) | gnomAD v4 |
| X | g.108157111G>C | CA518100772 | COL4A6 | c.4962C>G (p.Thr1654=) c.4965C>G (p.Thr1655=) c.5013C>G (p.Thr1671=) c.4791C>G (p.Thr1597=) c.4926C>G (p.Thr1642=) c.4890C>G (p.Thr1630=) c.5016C>G (p.Thr1672=) c.4944C>G (p.Thr1648=) c.4932C>G (p.Thr1644=) | |
| X | g.108157111G>T | CA518100773 | COL4A6 | c.4962C>A (p.Thr1654=) c.4965C>A (p.Thr1655=) c.5013C>A (p.Thr1671=) c.4791C>A (p.Thr1597=) c.4926C>A (p.Thr1642=) c.4890C>A (p.Thr1630=) c.5016C>A (p.Thr1672=) c.4944C>A (p.Thr1648=) c.4932C>A (p.Thr1644=) | gnomAD v4 |
| X | g.108157112G>A | CA413848222 | COL4A6 | c.4961C>T (p.Thr1654Ile) c.4964C>T (p.Thr1655Ile) c.5012C>T (p.Thr1671Ile) c.4790C>T (p.Thr1597Ile) c.4925C>T (p.Thr1642Ile) c.4889C>T (p.Thr1630Ile) c.5015C>T (p.Thr1672Ile) c.4943C>T (p.Thr1648Ile) c.4931C>T (p.Thr1644Ile) | gnomAD v4 |
| X | g.108157112G>C | CA413848223 | COL4A6 | c.4961C>G (p.Thr1654Ser) c.4964C>G (p.Thr1655Ser) c.5012C>G (p.Thr1671Ser) c.4790C>G (p.Thr1597Ser) c.4925C>G (p.Thr1642Ser) c.4889C>G (p.Thr1630Ser) c.5015C>G (p.Thr1672Ser) c.4943C>G (p.Thr1648Ser) c.4931C>G (p.Thr1644Ser) | |
| X | g.108157112G>T | CA413848224 | COL4A6 | c.4961C>A (p.Thr1654Asn) c.4964C>A (p.Thr1655Asn) c.5012C>A (p.Thr1671Asn) c.4790C>A (p.Thr1597Asn) c.4925C>A (p.Thr1642Asn) c.4889C>A (p.Thr1630Asn) c.5015C>A (p.Thr1672Asn) c.4943C>A (p.Thr1648Asn) c.4931C>A (p.Thr1644Asn) | gnomAD v4 |
| X | g.108157113T>A | CA413848226 | COL4A6 | c.4960A>T (p.Thr1654Ser) c.4963A>T (p.Thr1655Ser) c.5011A>T (p.Thr1671Ser) c.4789A>T (p.Thr1597Ser) c.4924A>T (p.Thr1642Ser) c.4888A>T (p.Thr1630Ser) c.5014A>T (p.Thr1672Ser) c.4942A>T (p.Thr1648Ser) c.4930A>T (p.Thr1644Ser) | |
| X | g.108157113T>C | CA413848230 | COL4A6 | c.4960A>G (p.Thr1654Ala) c.4963A>G (p.Thr1655Ala) c.5011A>G (p.Thr1671Ala) c.4789A>G (p.Thr1597Ala) c.4924A>G (p.Thr1642Ala) c.4888A>G (p.Thr1630Ala) c.5014A>G (p.Thr1672Ala) c.4942A>G (p.Thr1648Ala) c.4930A>G (p.Thr1644Ala) | |
| X | g.108157113T>G | CA413848228 | COL4A6 | c.4960A>C (p.Thr1654Pro) c.4963A>C (p.Thr1655Pro) c.5011A>C (p.Thr1671Pro) c.4789A>C (p.Thr1597Pro) c.4924A>C (p.Thr1642Pro) c.4888A>C (p.Thr1630Pro) c.5014A>C (p.Thr1672Pro) c.4942A>C (p.Thr1648Pro) c.4930A>C (p.Thr1644Pro) | |
| X | g.108157114C>A | CA413848232 | COL4A6 | c.4959G>T (p.Leu1653Phe) c.4962G>T (p.Leu1654Phe) c.5010G>T (p.Leu1670Phe) c.4788G>T (p.Leu1596Phe) c.4923G>T (p.Leu1641Phe) c.4887G>T (p.Leu1629Phe) c.5013G>T (p.Leu1671Phe) c.4941G>T (p.Leu1647Phe) c.4929G>T (p.Leu1643Phe) | |
| X | g.108157114C>G | CA413848234 | COL4A6 | c.4959G>C (p.Leu1653Phe) c.4962G>C (p.Leu1654Phe) c.5010G>C (p.Leu1670Phe) c.4788G>C (p.Leu1596Phe) c.4923G>C (p.Leu1641Phe) c.4887G>C (p.Leu1629Phe) c.5013G>C (p.Leu1671Phe) c.4941G>C (p.Leu1647Phe) c.4929G>C (p.Leu1643Phe) | |
| X | g.108157114C>T | CA518100776 | COL4A6 | c.4959G>A (p.Leu1653=) c.4962G>A (p.Leu1654=) c.5010G>A (p.Leu1670=) c.4788G>A (p.Leu1596=) c.4923G>A (p.Leu1641=) c.4887G>A (p.Leu1629=) c.5013G>A (p.Leu1671=) c.4941G>A (p.Leu1647=) c.4929G>A (p.Leu1643=) | |
| X | g.108157115A>C | CA413848236 | COL4A6 | c.4958T>G (p.Leu1653Trp) c.4961T>G (p.Leu1654Trp) c.5009T>G (p.Leu1670Trp) c.4787T>G (p.Leu1596Trp) c.4922T>G (p.Leu1641Trp) c.4886T>G (p.Leu1629Trp) c.5012T>G (p.Leu1671Trp) c.4940T>G (p.Leu1647Trp) c.4928T>G (p.Leu1643Trp) | |
| X | g.108157115A>G | CA413848238 | COL4A6 | c.4958T>C (p.Leu1653Ser) c.4961T>C (p.Leu1654Ser) c.5009T>C (p.Leu1670Ser) c.4787T>C (p.Leu1596Ser) c.4922T>C (p.Leu1641Ser) c.4886T>C (p.Leu1629Ser) c.5012T>C (p.Leu1671Ser) c.4940T>C (p.Leu1647Ser) c.4928T>C (p.Leu1643Ser) | |
| X | g.108157115A>T | CA413848240 | COL4A6 | c.4958T>A (p.Leu1653Ter) c.4961T>A (p.Leu1654Ter) c.5009T>A (p.Leu1670Ter) c.4787T>A (p.Leu1596Ter) c.4922T>A (p.Leu1641Ter) c.4886T>A (p.Leu1629Ter) c.5012T>A (p.Leu1671Ter) c.4940T>A (p.Leu1647Ter) c.4928T>A (p.Leu1643Ter) | |
| X | g.108157116A>C | CA413848242 | COL4A6 | c.4957T>G (p.Leu1653Val) c.4960T>G (p.Leu1654Val) c.5008T>G (p.Leu1670Val) c.4786T>G (p.Leu1596Val) c.4921T>G (p.Leu1641Val) c.4885T>G (p.Leu1629Val) c.5011T>G (p.Leu1671Val) c.4939T>G (p.Leu1647Val) c.4927T>G (p.Leu1643Val) | |
| X | g.108157116A>G | CA518100778 | COL4A6 | c.4957T>C (p.Leu1653=) c.4960T>C (p.Leu1654=) c.5008T>C (p.Leu1670=) c.4786T>C (p.Leu1596=) c.4921T>C (p.Leu1641=) c.4885T>C (p.Leu1629=) c.5011T>C (p.Leu1671=) c.4939T>C (p.Leu1647=) c.4927T>C (p.Leu1643=) | |
| X | g.108157116A>T | CA413848241 | COL4A6 | c.4957T>A (p.Leu1653Met) c.4960T>A (p.Leu1654Met) c.5008T>A (p.Leu1670Met) c.4786T>A (p.Leu1596Met) c.4921T>A (p.Leu1641Met) c.4885T>A (p.Leu1629Met) c.5011T>A (p.Leu1671Met) c.4939T>A (p.Leu1647Met) c.4927T>A (p.Leu1643Met) | |
| X | g.108157117C>A | CA413848243 | COL4A6 | c.4956G>T (p.Trp1652Cys) c.4959G>T (p.Trp1653Cys) c.5007G>T (p.Trp1669Cys) c.4785G>T (p.Trp1595Cys) c.4920G>T (p.Trp1640Cys) c.4884G>T (p.Trp1628Cys) c.5010G>T (p.Trp1670Cys) c.4938G>T (p.Trp1646Cys) c.4926G>T (p.Trp1642Cys) | |
| X | g.108157117C>G | CA413848245 | COL4A6 | c.4956G>C (p.Trp1652Cys) c.4959G>C (p.Trp1653Cys) c.5007G>C (p.Trp1669Cys) c.4785G>C (p.Trp1595Cys) c.4920G>C (p.Trp1640Cys) c.4884G>C (p.Trp1628Cys) c.5010G>C (p.Trp1670Cys) c.4938G>C (p.Trp1646Cys) c.4926G>C (p.Trp1642Cys) | |
| X | g.108157117C>T | CA413848244 | COL4A6 | c.4956G>A (p.Trp1652Ter) c.4959G>A (p.Trp1653Ter) c.5007G>A (p.Trp1669Ter) c.4785G>A (p.Trp1595Ter) c.4920G>A (p.Trp1640Ter) c.4884G>A (p.Trp1628Ter) c.5010G>A (p.Trp1670Ter) c.4938G>A (p.Trp1646Ter) c.4926G>A (p.Trp1642Ter) | |
| X | g.108157118C>A | CA413848246 | COL4A6 | c.4955G>T (p.Trp1652Leu) c.4958G>T (p.Trp1653Leu) c.5006G>T (p.Trp1669Leu) c.4784G>T (p.Trp1595Leu) c.4919G>T (p.Trp1640Leu) c.4883G>T (p.Trp1628Leu) c.5009G>T (p.Trp1670Leu) c.4937G>T (p.Trp1646Leu) c.4925G>T (p.Trp1642Leu) | |
| X | g.108157118C>G | CA413848248 | COL4A6 | c.4955G>C (p.Trp1652Ser) c.4958G>C (p.Trp1653Ser) c.5006G>C (p.Trp1669Ser) c.4784G>C (p.Trp1595Ser) c.4919G>C (p.Trp1640Ser) c.4883G>C (p.Trp1628Ser) c.5009G>C (p.Trp1670Ser) c.4937G>C (p.Trp1646Ser) c.4925G>C (p.Trp1642Ser) | |
| X | g.108157118C>T | CA413848247 | COL4A6 | c.4955G>A (p.Trp1652Ter) c.4958G>A (p.Trp1653Ter) c.5006G>A (p.Trp1669Ter) c.4784G>A (p.Trp1595Ter) c.4919G>A (p.Trp1640Ter) c.4883G>A (p.Trp1628Ter) c.5009G>A (p.Trp1670Ter) c.4937G>A (p.Trp1646Ter) c.4925G>A (p.Trp1642Ter) | |
| X | g.108157119A>C | CA413848249 | COL4A6 | c.4954T>G (p.Trp1652Gly) c.4957T>G (p.Trp1653Gly) c.5005T>G (p.Trp1669Gly) c.4783T>G (p.Trp1595Gly) c.4918T>G (p.Trp1640Gly) c.4882T>G (p.Trp1628Gly) c.5008T>G (p.Trp1670Gly) c.4936T>G (p.Trp1646Gly) c.4924T>G (p.Trp1642Gly) | |
| X | g.108157119A>G | CA413848251 | COL4A6 | c.4954T>C (p.Trp1652Arg) c.4957T>C (p.Trp1653Arg) c.5005T>C (p.Trp1669Arg) c.4783T>C (p.Trp1595Arg) c.4918T>C (p.Trp1640Arg) c.4882T>C (p.Trp1628Arg) c.5008T>C (p.Trp1670Arg) c.4936T>C (p.Trp1646Arg) c.4924T>C (p.Trp1642Arg) | |
| X | g.108157119A>T | CA413848250 | COL4A6 | c.4954T>A (p.Trp1652Arg) c.4957T>A (p.Trp1653Arg) c.5005T>A (p.Trp1669Arg) c.4783T>A (p.Trp1595Arg) c.4918T>A (p.Trp1640Arg) c.4882T>A (p.Trp1628Arg) c.5008T>A (p.Trp1670Arg) c.4936T>A (p.Trp1646Arg) c.4924T>A (p.Trp1642Arg) | |
| X | g.108157120G>A | CA518100782 | COL4A6 | c.4953C>T (p.Phe1651=) c.4956C>T (p.Phe1652=) c.5004C>T (p.Phe1668=) c.4782C>T (p.Phe1594=) c.4917C>T (p.Phe1639=) c.4881C>T (p.Phe1627=) c.5007C>T (p.Phe1669=) c.4935C>T (p.Phe1645=) c.4923C>T (p.Phe1641=) | |
| X | g.108157120G>C | CA413848252 | COL4A6 | c.4953C>G (p.Phe1651Leu) c.4956C>G (p.Phe1652Leu) c.5004C>G (p.Phe1668Leu) c.4782C>G (p.Phe1594Leu) c.4917C>G (p.Phe1639Leu) c.4881C>G (p.Phe1627Leu) c.5007C>G (p.Phe1669Leu) c.4935C>G (p.Phe1645Leu) c.4923C>G (p.Phe1641Leu) | |
| X | g.108157120G>T | CA413848254 | COL4A6 | c.4953C>A (p.Phe1651Leu) c.4956C>A (p.Phe1652Leu) c.5004C>A (p.Phe1668Leu) c.4782C>A (p.Phe1594Leu) c.4917C>A (p.Phe1639Leu) c.4881C>A (p.Phe1627Leu) c.5007C>A (p.Phe1669Leu) c.4935C>A (p.Phe1645Leu) c.4923C>A (p.Phe1641Leu) | |
| X | g.108157121A>C | CA413848255 | COL4A6 | c.4952T>G (p.Phe1651Cys) c.4955T>G (p.Phe1652Cys) c.5003T>G (p.Phe1668Cys) c.4781T>G (p.Phe1594Cys) c.4916T>G (p.Phe1639Cys) c.4880T>G (p.Phe1627Cys) c.5006T>G (p.Phe1669Cys) c.4934T>G (p.Phe1645Cys) c.4922T>G (p.Phe1641Cys) | |
| X | g.108157121A>G | CA413848257 | COL4A6 | c.4952T>C (p.Phe1651Ser) c.4955T>C (p.Phe1652Ser) c.5003T>C (p.Phe1668Ser) c.4781T>C (p.Phe1594Ser) c.4916T>C (p.Phe1639Ser) c.4880T>C (p.Phe1627Ser) c.5006T>C (p.Phe1669Ser) c.4934T>C (p.Phe1645Ser) c.4922T>C (p.Phe1641Ser) | |
| X | g.108157121A>T | CA413848256 | COL4A6 | c.4952T>A (p.Phe1651Tyr) c.4955T>A (p.Phe1652Tyr) c.5003T>A (p.Phe1668Tyr) c.4781T>A (p.Phe1594Tyr) c.4916T>A (p.Phe1639Tyr) c.4880T>A (p.Phe1627Tyr) c.5006T>A (p.Phe1669Tyr) c.4934T>A (p.Phe1645Tyr) c.4922T>A (p.Phe1641Tyr) | |
| X | g.108157122A= | CA2450541958 | COL4A6 | c.4951T= (p.Phe1651=) c.4954T= (p.Phe1652=) c.5002T= (p.Phe1668=) c.4780T= (p.Phe1594=) c.4915T= (p.Phe1639=) c.4879T= (p.Phe1627=) c.5005T= (p.Phe1669=) c.4933T= (p.Phe1645=) c.4921T= (p.Phe1641=) | |
| X | g.108157122A>C | CA413848258 | COL4A6 | c.4951T>G (p.Phe1651Val) c.4954T>G (p.Phe1652Val) c.5002T>G (p.Phe1668Val) c.4780T>G (p.Phe1594Val) c.4915T>G (p.Phe1639Val) c.4879T>G (p.Phe1627Val) c.5005T>G (p.Phe1669Val) c.4933T>G (p.Phe1645Val) c.4921T>G (p.Phe1641Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157122A>G | CA413848259 | COL4A6 | c.4951T>C (p.Phe1651Leu) c.4954T>C (p.Phe1652Leu) c.5002T>C (p.Phe1668Leu) c.4780T>C (p.Phe1594Leu) c.4915T>C (p.Phe1639Leu) c.4879T>C (p.Phe1627Leu) c.5005T>C (p.Phe1669Leu) c.4933T>C (p.Phe1645Leu) c.4921T>C (p.Phe1641Leu) | |
| X | g.108157122A>T | CA413848260 | COL4A6 | c.4951T>A (p.Phe1651Ile) c.4954T>A (p.Phe1652Ile) c.5002T>A (p.Phe1668Ile) c.4780T>A (p.Phe1594Ile) c.4915T>A (p.Phe1639Ile) c.4879T>A (p.Phe1627Ile) c.5005T>A (p.Phe1669Ile) c.4933T>A (p.Phe1645Ile) c.4921T>A (p.Phe1641Ile) | |
| X | g.108157123A>C | CA413848261 | COL4A6 | c.4950T>G (p.Ser1650Arg) c.4953T>G (p.Ser1651Arg) c.5001T>G (p.Ser1667Arg) c.4779T>G (p.Ser1593Arg) c.4914T>G (p.Ser1638Arg) c.4878T>G (p.Ser1626Arg) c.5004T>G (p.Ser1668Arg) c.4932T>G (p.Ser1644Arg) c.4920T>G (p.Ser1640Arg) | |
| X | g.108157123A>G | CA518100787 | COL4A6 | c.4950T>C (p.Ser1650=) c.4953T>C (p.Ser1651=) c.5001T>C (p.Ser1667=) c.4779T>C (p.Ser1593=) c.4914T>C (p.Ser1638=) c.4878T>C (p.Ser1626=) c.5004T>C (p.Ser1668=) c.4932T>C (p.Ser1644=) c.4920T>C (p.Ser1640=) | |
| X | g.108157123A>T | CA413848262 | COL4A6 | c.4950T>A (p.Ser1650Arg) c.4953T>A (p.Ser1651Arg) c.5001T>A (p.Ser1667Arg) c.4779T>A (p.Ser1593Arg) c.4914T>A (p.Ser1638Arg) c.4878T>A (p.Ser1626Arg) c.5004T>A (p.Ser1668Arg) c.4932T>A (p.Ser1644Arg) c.4920T>A (p.Ser1640Arg) | |
| X | g.108157124C>A | CA413848263 | COL4A6 | c.4949G>T (p.Ser1650Ile) c.4952G>T (p.Ser1651Ile) c.5000G>T (p.Ser1667Ile) c.4778G>T (p.Ser1593Ile) c.4913G>T (p.Ser1638Ile) c.4877G>T (p.Ser1626Ile) c.5003G>T (p.Ser1668Ile) c.4931G>T (p.Ser1644Ile) c.4919G>T (p.Ser1640Ile) | |
| X | g.108157124C= | CA2450541959 | COL4A6 | c.4949G= (p.Ser1650=) c.4952G= (p.Ser1651=) c.5000G= (p.Ser1667=) c.4778G= (p.Ser1593=) c.4913G= (p.Ser1638=) c.4877G= (p.Ser1626=) c.5003G= (p.Ser1668=) c.4931G= (p.Ser1644=) c.4919G= (p.Ser1640=) | |
| X | g.108157124C>G | CA413848264 | COL4A6 | c.4949G>C (p.Ser1650Thr) c.4952G>C (p.Ser1651Thr) c.5000G>C (p.Ser1667Thr) c.4778G>C (p.Ser1593Thr) c.4913G>C (p.Ser1638Thr) c.4877G>C (p.Ser1626Thr) c.5003G>C (p.Ser1668Thr) c.4931G>C (p.Ser1644Thr) c.4919G>C (p.Ser1640Thr) | |
| X | g.108157124C>T | CA10487082 | COL4A6 | c.4949G>A (p.Ser1650Asn) c.4952G>A (p.Ser1651Asn) c.5000G>A (p.Ser1667Asn) c.4778G>A (p.Ser1593Asn) c.4913G>A (p.Ser1638Asn) c.4877G>A (p.Ser1626Asn) c.5003G>A (p.Ser1668Asn) c.4931G>A (p.Ser1644Asn) c.4919G>A (p.Ser1640Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157125T>A | CA413848265 | COL4A6 | c.4948A>T (p.Ser1650Cys) c.4951A>T (p.Ser1651Cys) c.4999A>T (p.Ser1667Cys) c.4777A>T (p.Ser1593Cys) c.4912A>T (p.Ser1638Cys) c.4876A>T (p.Ser1626Cys) c.5002A>T (p.Ser1668Cys) c.4930A>T (p.Ser1644Cys) c.4918A>T (p.Ser1640Cys) | |
| X | g.108157125T>C | CA413848266 | COL4A6 | c.4948A>G (p.Ser1650Gly) c.4951A>G (p.Ser1651Gly) c.4999A>G (p.Ser1667Gly) c.4777A>G (p.Ser1593Gly) c.4912A>G (p.Ser1638Gly) c.4876A>G (p.Ser1626Gly) c.5002A>G (p.Ser1668Gly) c.4930A>G (p.Ser1644Gly) c.4918A>G (p.Ser1640Gly) | |
| X | g.108157125T>G | CA413848267 | COL4A6 | c.4948A>C (p.Ser1650Arg) c.4951A>C (p.Ser1651Arg) c.4999A>C (p.Ser1667Arg) c.4777A>C (p.Ser1593Arg) c.4912A>C (p.Ser1638Arg) c.4876A>C (p.Ser1626Arg) c.5002A>C (p.Ser1668Arg) c.4930A>C (p.Ser1644Arg) c.4918A>C (p.Ser1640Arg) | |
| X | g.108157126_108157127del | CA645614505 | COL4A6 | c.4947_4948del (p.Tyr1649Ter) c.4950_4951del (p.Tyr1650Ter) c.4998_4999del (p.Tyr1666Ter) c.4776_4777del (p.Tyr1592Ter) c.4911_4912del (p.Tyr1637Ter) c.4875_4876del (p.Tyr1625Ter) c.5001_5002del (p.Tyr1667Ter) c.4929_4930del (p.Tyr1643Ter) c.4917_4918del (p.Tyr1639Ter) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.108157126G>A | CA518100790 | COL4A6 | c.4947C>T (p.Tyr1649=) c.4950C>T (p.Tyr1650=) c.4998C>T (p.Tyr1666=) c.4776C>T (p.Tyr1592=) c.4911C>T (p.Tyr1637=) c.4875C>T (p.Tyr1625=) c.5001C>T (p.Tyr1667=) c.4929C>T (p.Tyr1643=) c.4917C>T (p.Tyr1639=) | gnomAD v4 |
| X | g.108157126G>C | CA413848268 | COL4A6 | c.4947C>G (p.Tyr1649Ter) c.4950C>G (p.Tyr1650Ter) c.4998C>G (p.Tyr1666Ter) c.4776C>G (p.Tyr1592Ter) c.4911C>G (p.Tyr1637Ter) c.4875C>G (p.Tyr1625Ter) c.5001C>G (p.Tyr1667Ter) c.4929C>G (p.Tyr1643Ter) c.4917C>G (p.Tyr1639Ter) | gnomAD v4 |
| X | g.108157126G>T | CA413848269 | COL4A6 | c.4947C>A (p.Tyr1649Ter) c.4950C>A (p.Tyr1650Ter) c.4998C>A (p.Tyr1666Ter) c.4776C>A (p.Tyr1592Ter) c.4911C>A (p.Tyr1637Ter) c.4875C>A (p.Tyr1625Ter) c.5001C>A (p.Tyr1667Ter) c.4929C>A (p.Tyr1643Ter) c.4917C>A (p.Tyr1639Ter) | |
| X | g.108157127T>A | CA413848270 | COL4A6 | c.4946A>T (p.Tyr1649Phe) c.4949A>T (p.Tyr1650Phe) c.4997A>T (p.Tyr1666Phe) c.4775A>T (p.Tyr1592Phe) c.4910A>T (p.Tyr1637Phe) c.4874A>T (p.Tyr1625Phe) c.5000A>T (p.Tyr1667Phe) c.4928A>T (p.Tyr1643Phe) c.4916A>T (p.Tyr1639Phe) | |
| X | g.108157127T>C | CA413848272 | COL4A6 | c.4946A>G (p.Tyr1649Cys) c.4949A>G (p.Tyr1650Cys) c.4997A>G (p.Tyr1666Cys) c.4775A>G (p.Tyr1592Cys) c.4910A>G (p.Tyr1637Cys) c.4874A>G (p.Tyr1625Cys) c.5000A>G (p.Tyr1667Cys) c.4928A>G (p.Tyr1643Cys) c.4916A>G (p.Tyr1639Cys) | |
| X | g.108157127T>G | CA413848271 | COL4A6 | c.4946A>C (p.Tyr1649Ser) c.4949A>C (p.Tyr1650Ser) c.4997A>C (p.Tyr1666Ser) c.4775A>C (p.Tyr1592Ser) c.4910A>C (p.Tyr1637Ser) c.4874A>C (p.Tyr1625Ser) c.5000A>C (p.Tyr1667Ser) c.4928A>C (p.Tyr1643Ser) c.4916A>C (p.Tyr1639Ser) | |
| X | g.108157128A>C | CA413848273 | COL4A6 | c.4945T>G (p.Tyr1649Asp) c.4948T>G (p.Tyr1650Asp) c.4996T>G (p.Tyr1666Asp) c.4774T>G (p.Tyr1592Asp) c.4909T>G (p.Tyr1637Asp) c.4873T>G (p.Tyr1625Asp) c.4999T>G (p.Tyr1667Asp) c.4927T>G (p.Tyr1643Asp) c.4915T>G (p.Tyr1639Asp) | |
| X | g.108157128A>G | CA413848274 | COL4A6 | c.4945T>C (p.Tyr1649His) c.4948T>C (p.Tyr1650His) c.4996T>C (p.Tyr1666His) c.4774T>C (p.Tyr1592His) c.4909T>C (p.Tyr1637His) c.4873T>C (p.Tyr1625His) c.4999T>C (p.Tyr1667His) c.4927T>C (p.Tyr1643His) c.4915T>C (p.Tyr1639His) | |
| X | g.108157128A>T | CA413848275 | COL4A6 | c.4945T>A (p.Tyr1649Asn) c.4948T>A (p.Tyr1650Asn) c.4996T>A (p.Tyr1666Asn) c.4774T>A (p.Tyr1592Asn) c.4909T>A (p.Tyr1637Asn) c.4873T>A (p.Tyr1625Asn) c.4999T>A (p.Tyr1667Asn) c.4927T>A (p.Tyr1643Asn) c.4915T>A (p.Tyr1639Asn) | |
| X | g.108157129C>A | CA413848276 | COL4A6 | c.4944G>T (p.Lys1648Asn) c.4947G>T (p.Lys1649Asn) c.4995G>T (p.Lys1665Asn) c.4773G>T (p.Lys1591Asn) c.4908G>T (p.Lys1636Asn) c.4872G>T (p.Lys1624Asn) c.4998G>T (p.Lys1666Asn) c.4926G>T (p.Lys1642Asn) c.4914G>T (p.Lys1638Asn) | |
| X | g.108157129C>G | CA413848277 | COL4A6 | c.4944G>C (p.Lys1648Asn) c.4947G>C (p.Lys1649Asn) c.4995G>C (p.Lys1665Asn) c.4773G>C (p.Lys1591Asn) c.4908G>C (p.Lys1636Asn) c.4872G>C (p.Lys1624Asn) c.4998G>C (p.Lys1666Asn) c.4926G>C (p.Lys1642Asn) c.4914G>C (p.Lys1638Asn) | |
| X | g.108157129C>T | CA518100792 | COL4A6 | c.4944G>A (p.Lys1648=) c.4947G>A (p.Lys1649=) c.4995G>A (p.Lys1665=) c.4773G>A (p.Lys1591=) c.4908G>A (p.Lys1636=) c.4872G>A (p.Lys1624=) c.4998G>A (p.Lys1666=) c.4926G>A (p.Lys1642=) c.4914G>A (p.Lys1638=) | |
| X | g.108157130T>A | CA413848278 | COL4A6 | c.4943A>T (p.Lys1648Met) c.4946A>T (p.Lys1649Met) c.4994A>T (p.Lys1665Met) c.4772A>T (p.Lys1591Met) c.4907A>T (p.Lys1636Met) c.4871A>T (p.Lys1624Met) c.4997A>T (p.Lys1666Met) c.4925A>T (p.Lys1642Met) c.4913A>T (p.Lys1638Met) | |
| X | g.108157130T>C | CA413848279 | COL4A6 | c.4943A>G (p.Lys1648Arg) c.4946A>G (p.Lys1649Arg) c.4994A>G (p.Lys1665Arg) c.4772A>G (p.Lys1591Arg) c.4907A>G (p.Lys1636Arg) c.4871A>G (p.Lys1624Arg) c.4997A>G (p.Lys1666Arg) c.4925A>G (p.Lys1642Arg) c.4913A>G (p.Lys1638Arg) | |
| X | g.108157130T>G | CA413848280 | COL4A6 | c.4943A>C (p.Lys1648Thr) c.4946A>C (p.Lys1649Thr) c.4994A>C (p.Lys1665Thr) c.4772A>C (p.Lys1591Thr) c.4907A>C (p.Lys1636Thr) c.4871A>C (p.Lys1624Thr) c.4997A>C (p.Lys1666Thr) c.4925A>C (p.Lys1642Thr) c.4913A>C (p.Lys1638Thr) | |
| X | g.108157131T>A | CA413848281 | COL4A6 | c.4942A>T (p.Lys1648Ter) c.4945A>T (p.Lys1649Ter) c.4993A>T (p.Lys1665Ter) c.4771A>T (p.Lys1591Ter) c.4906A>T (p.Lys1636Ter) c.4870A>T (p.Lys1624Ter) c.4996A>T (p.Lys1666Ter) c.4924A>T (p.Lys1642Ter) c.4912A>T (p.Lys1638Ter) | |
| X | g.108157131T>C | CA413848282 | COL4A6 | c.4942A>G (p.Lys1648Glu) c.4945A>G (p.Lys1649Glu) c.4993A>G (p.Lys1665Glu) c.4771A>G (p.Lys1591Glu) c.4906A>G (p.Lys1636Glu) c.4870A>G (p.Lys1624Glu) c.4996A>G (p.Lys1666Glu) c.4924A>G (p.Lys1642Glu) c.4912A>G (p.Lys1638Glu) | |
| X | g.108157131T>G | CA413848283 | COL4A6 | c.4942A>C (p.Lys1648Gln) c.4945A>C (p.Lys1649Gln) c.4993A>C (p.Lys1665Gln) c.4771A>C (p.Lys1591Gln) c.4906A>C (p.Lys1636Gln) c.4870A>C (p.Lys1624Gln) c.4996A>C (p.Lys1666Gln) c.4924A>C (p.Lys1642Gln) c.4912A>C (p.Lys1638Gln) | |
| X | g.108157132G>A | CA518100796 | COL4A6 | c.4941C>T (p.Asn1647=) c.4944C>T (p.Asn1648=) c.4992C>T (p.Asn1664=) c.4770C>T (p.Asn1590=) c.4905C>T (p.Asn1635=) c.4869C>T (p.Asn1623=) c.4995C>T (p.Asn1665=) c.4923C>T (p.Asn1641=) c.4911C>T (p.Asn1637=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157132G>C | CA413848285 | COL4A6 | c.4941C>G (p.Asn1647Lys) c.4944C>G (p.Asn1648Lys) c.4992C>G (p.Asn1664Lys) c.4770C>G (p.Asn1590Lys) c.4905C>G (p.Asn1635Lys) c.4869C>G (p.Asn1623Lys) c.4995C>G (p.Asn1665Lys) c.4923C>G (p.Asn1641Lys) c.4911C>G (p.Asn1637Lys) | |
| X | g.108157132G= | CA2450541960 | COL4A6 | c.4941C= (p.Asn1647=) c.4944C= (p.Asn1648=) c.4992C= (p.Asn1664=) c.4770C= (p.Asn1590=) c.4905C= (p.Asn1635=) c.4869C= (p.Asn1623=) c.4995C= (p.Asn1665=) c.4923C= (p.Asn1641=) c.4911C= (p.Asn1637=) | |
| X | g.108157132G>T | CA413848284 | COL4A6 | c.4941C>A (p.Asn1647Lys) c.4944C>A (p.Asn1648Lys) c.4992C>A (p.Asn1664Lys) c.4770C>A (p.Asn1590Lys) c.4905C>A (p.Asn1635Lys) c.4869C>A (p.Asn1623Lys) c.4995C>A (p.Asn1665Lys) c.4923C>A (p.Asn1641Lys) c.4911C>A (p.Asn1637Lys) | |
| X | g.108157133T>A | CA413848286 | COL4A6 | c.4940A>T (p.Asn1647Ile) c.4943A>T (p.Asn1648Ile) c.4991A>T (p.Asn1664Ile) c.4769A>T (p.Asn1590Ile) c.4904A>T (p.Asn1635Ile) c.4868A>T (p.Asn1623Ile) c.4994A>T (p.Asn1665Ile) c.4922A>T (p.Asn1641Ile) c.4910A>T (p.Asn1637Ile) | |
| X | g.108157133T>C | CA413848287 | COL4A6 | c.4940A>G (p.Asn1647Ser) c.4943A>G (p.Asn1648Ser) c.4991A>G (p.Asn1664Ser) c.4769A>G (p.Asn1590Ser) c.4904A>G (p.Asn1635Ser) c.4868A>G (p.Asn1623Ser) c.4994A>G (p.Asn1665Ser) c.4922A>G (p.Asn1641Ser) c.4910A>G (p.Asn1637Ser) | |
| X | g.108157133T>G | CA413848288 | COL4A6 | c.4940A>C (p.Asn1647Thr) c.4943A>C (p.Asn1648Thr) c.4991A>C (p.Asn1664Thr) c.4769A>C (p.Asn1590Thr) c.4904A>C (p.Asn1635Thr) c.4868A>C (p.Asn1623Thr) c.4994A>C (p.Asn1665Thr) c.4922A>C (p.Asn1641Thr) c.4910A>C (p.Asn1637Thr) | |
| X | g.108157134T>A | CA413848289 | COL4A6 | c.4939A>T (p.Asn1647Tyr) c.4942A>T (p.Asn1648Tyr) c.4990A>T (p.Asn1664Tyr) c.4768A>T (p.Asn1590Tyr) c.4903A>T (p.Asn1635Tyr) c.4867A>T (p.Asn1623Tyr) c.4993A>T (p.Asn1665Tyr) c.4921A>T (p.Asn1641Tyr) c.4909A>T (p.Asn1637Tyr) | |
| X | g.108157134T>C | CA413848290 | COL4A6 | c.4939A>G (p.Asn1647Asp) c.4942A>G (p.Asn1648Asp) c.4990A>G (p.Asn1664Asp) c.4768A>G (p.Asn1590Asp) c.4903A>G (p.Asn1635Asp) c.4867A>G (p.Asn1623Asp) c.4993A>G (p.Asn1665Asp) c.4921A>G (p.Asn1641Asp) c.4909A>G (p.Asn1637Asp) | |
| X | g.108157134T>G | CA413848291 | COL4A6 | c.4939A>C (p.Asn1647His) c.4942A>C (p.Asn1648His) c.4990A>C (p.Asn1664His) c.4768A>C (p.Asn1590His) c.4903A>C (p.Asn1635His) c.4867A>C (p.Asn1623His) c.4993A>C (p.Asn1665His) c.4921A>C (p.Asn1641His) c.4909A>C (p.Asn1637His) | |
| X | g.108157135T>A | CA518100806 | COL4A6 | c.4938A>T (p.Ala1646=) c.4941A>T (p.Ala1647=) c.4989A>T (p.Ala1663=) c.4767A>T (p.Ala1589=) c.4902A>T (p.Ala1634=) c.4866A>T (p.Ala1622=) c.4992A>T (p.Ala1664=) c.4920A>T (p.Ala1640=) c.4908A>T (p.Ala1636=) | |
| X | g.108157135T>C | CA518100805 | COL4A6 | c.4938A>G (p.Ala1646=) c.4941A>G (p.Ala1647=) c.4989A>G (p.Ala1663=) c.4767A>G (p.Ala1589=) c.4902A>G (p.Ala1634=) c.4866A>G (p.Ala1622=) c.4992A>G (p.Ala1664=) c.4920A>G (p.Ala1640=) c.4908A>G (p.Ala1636=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157135T>G | CA518100804 | COL4A6 | c.4938A>C (p.Ala1646=) c.4941A>C (p.Ala1647=) c.4989A>C (p.Ala1663=) c.4767A>C (p.Ala1589=) c.4902A>C (p.Ala1634=) c.4866A>C (p.Ala1622=) c.4992A>C (p.Ala1664=) c.4920A>C (p.Ala1640=) c.4908A>C (p.Ala1636=) | |
| X | g.108157135T= | CA2450541961 | COL4A6 | c.4938A= (p.Ala1646=) c.4941A= (p.Ala1647=) c.4989A= (p.Ala1663=) c.4767A= (p.Ala1589=) c.4902A= (p.Ala1634=) c.4866A= (p.Ala1622=) c.4992A= (p.Ala1664=) c.4920A= (p.Ala1640=) c.4908A= (p.Ala1636=) | |
| X | g.108157136G>A | CA413848294 | COL4A6 | c.4937C>T (p.Ala1646Val) c.4940C>T (p.Ala1647Val) c.4988C>T (p.Ala1663Val) c.4766C>T (p.Ala1589Val) c.4901C>T (p.Ala1634Val) c.4865C>T (p.Ala1622Val) c.4991C>T (p.Ala1664Val) c.4919C>T (p.Ala1640Val) c.4907C>T (p.Ala1636Val) | gnomAD v4 |
| X | g.108157136G>C | CA413848292 | COL4A6 | c.4937C>G (p.Ala1646Gly) c.4940C>G (p.Ala1647Gly) c.4988C>G (p.Ala1663Gly) c.4766C>G (p.Ala1589Gly) c.4901C>G (p.Ala1634Gly) c.4865C>G (p.Ala1622Gly) c.4991C>G (p.Ala1664Gly) c.4919C>G (p.Ala1640Gly) c.4907C>G (p.Ala1636Gly) | |
| X | g.108157136G>T | CA413848293 | COL4A6 | c.4937C>A (p.Ala1646Glu) c.4940C>A (p.Ala1647Glu) c.4988C>A (p.Ala1663Glu) c.4766C>A (p.Ala1589Glu) c.4901C>A (p.Ala1634Glu) c.4865C>A (p.Ala1622Glu) c.4991C>A (p.Ala1664Glu) c.4919C>A (p.Ala1640Glu) c.4907C>A (p.Ala1636Glu) | |
| X | g.108157137C>A | CA413848295 | COL4A6 | c.4936G>T (p.Ala1646Ser) c.4939G>T (p.Ala1647Ser) c.4987G>T (p.Ala1663Ser) c.4765G>T (p.Ala1589Ser) c.4900G>T (p.Ala1634Ser) c.4864G>T (p.Ala1622Ser) c.4990G>T (p.Ala1664Ser) c.4918G>T (p.Ala1640Ser) c.4906G>T (p.Ala1636Ser) | |
| X | g.108157137C>G | CA413848296 | COL4A6 | c.4936G>C (p.Ala1646Pro) c.4939G>C (p.Ala1647Pro) c.4987G>C (p.Ala1663Pro) c.4765G>C (p.Ala1589Pro) c.4900G>C (p.Ala1634Pro) c.4864G>C (p.Ala1622Pro) c.4990G>C (p.Ala1664Pro) c.4918G>C (p.Ala1640Pro) c.4906G>C (p.Ala1636Pro) | |
| X | g.108157137C>T | CA413848297 | COL4A6 | c.4936G>A (p.Ala1646Thr) c.4939G>A (p.Ala1647Thr) c.4987G>A (p.Ala1663Thr) c.4765G>A (p.Ala1589Thr) c.4900G>A (p.Ala1634Thr) c.4864G>A (p.Ala1622Thr) c.4990G>A (p.Ala1664Thr) c.4918G>A (p.Ala1640Thr) c.4906G>A (p.Ala1636Thr) | |
| X | g.108157138A>C | CA413848298 | COL4A6 | c.4935T>G (p.Phe1645Leu) c.4938T>G (p.Phe1646Leu) c.4986T>G (p.Phe1662Leu) c.4764T>G (p.Phe1588Leu) c.4899T>G (p.Phe1633Leu) c.4863T>G (p.Phe1621Leu) c.4989T>G (p.Phe1663Leu) c.4917T>G (p.Phe1639Leu) c.4905T>G (p.Phe1635Leu) | |
| X | g.108157138A>G | CA518100807 | COL4A6 | c.4935T>C (p.Phe1645=) c.4938T>C (p.Phe1646=) c.4986T>C (p.Phe1662=) c.4764T>C (p.Phe1588=) c.4899T>C (p.Phe1633=) c.4863T>C (p.Phe1621=) c.4989T>C (p.Phe1663=) c.4917T>C (p.Phe1639=) c.4905T>C (p.Phe1635=) | |
| X | g.108157138A>T | CA413848299 | COL4A6 | c.4935T>A (p.Phe1645Leu) c.4938T>A (p.Phe1646Leu) c.4986T>A (p.Phe1662Leu) c.4764T>A (p.Phe1588Leu) c.4899T>A (p.Phe1633Leu) c.4863T>A (p.Phe1621Leu) c.4989T>A (p.Phe1663Leu) c.4917T>A (p.Phe1639Leu) c.4905T>A (p.Phe1635Leu) | |
| X | g.108157139A= | CA2450541962 | COL4A6 | c.4934T= (p.Phe1645=) c.4937T= (p.Phe1646=) c.4985T= (p.Phe1662=) c.4763T= (p.Phe1588=) c.4898T= (p.Phe1633=) c.4862T= (p.Phe1621=) c.4988T= (p.Phe1663=) c.4916T= (p.Phe1639=) c.4904T= (p.Phe1635=) | |
| X | g.108157139A>C | CA413848301 | COL4A6 | c.4934T>G (p.Phe1645Cys) c.4937T>G (p.Phe1646Cys) c.4985T>G (p.Phe1662Cys) c.4763T>G (p.Phe1588Cys) c.4898T>G (p.Phe1633Cys) c.4862T>G (p.Phe1621Cys) c.4988T>G (p.Phe1663Cys) c.4916T>G (p.Phe1639Cys) c.4904T>G (p.Phe1635Cys) | |
| X | g.108157139A>G | CA10487083 | COL4A6 | c.4934T>C (p.Phe1645Ser) c.4937T>C (p.Phe1646Ser) c.4985T>C (p.Phe1662Ser) c.4763T>C (p.Phe1588Ser) c.4898T>C (p.Phe1633Ser) c.4862T>C (p.Phe1621Ser) c.4988T>C (p.Phe1663Ser) c.4916T>C (p.Phe1639Ser) c.4904T>C (p.Phe1635Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.108157139A>T | CA413848300 | COL4A6 | c.4934T>A (p.Phe1645Tyr) c.4937T>A (p.Phe1646Tyr) c.4985T>A (p.Phe1662Tyr) c.4763T>A (p.Phe1588Tyr) c.4898T>A (p.Phe1633Tyr) c.4862T>A (p.Phe1621Tyr) c.4988T>A (p.Phe1663Tyr) c.4916T>A (p.Phe1639Tyr) c.4904T>A (p.Phe1635Tyr) | |
| X | g.108157140A= | CA2450541963 | COL4A6 | c.4933T= (p.Phe1645=) c.4936T= (p.Phe1646=) c.4984T= (p.Phe1662=) c.4762T= (p.Phe1588=) c.4897T= (p.Phe1633=) c.4861T= (p.Phe1621=) c.4987T= (p.Phe1663=) c.4915T= (p.Phe1639=) c.4903T= (p.Phe1635=) | |
| X | g.108157140A>C | CA413848302 | COL4A6 | c.4933T>G (p.Phe1645Val) c.4936T>G (p.Phe1646Val) c.4984T>G (p.Phe1662Val) c.4762T>G (p.Phe1588Val) c.4897T>G (p.Phe1633Val) c.4861T>G (p.Phe1621Val) c.4987T>G (p.Phe1663Val) c.4915T>G (p.Phe1639Val) c.4903T>G (p.Phe1635Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157140A>G | CA413848303 | COL4A6 | c.4933T>C (p.Phe1645Leu) c.4936T>C (p.Phe1646Leu) c.4984T>C (p.Phe1662Leu) c.4762T>C (p.Phe1588Leu) c.4897T>C (p.Phe1633Leu) c.4861T>C (p.Phe1621Leu) c.4987T>C (p.Phe1663Leu) c.4915T>C (p.Phe1639Leu) c.4903T>C (p.Phe1635Leu) | |
| X | g.108157140A>T | CA413848304 | COL4A6 | c.4933T>A (p.Phe1645Ile) c.4936T>A (p.Phe1646Ile) c.4984T>A (p.Phe1662Ile) c.4762T>A (p.Phe1588Ile) c.4897T>A (p.Phe1633Ile) c.4861T>A (p.Phe1621Ile) c.4987T>A (p.Phe1663Ile) c.4915T>A (p.Phe1639Ile) c.4903T>A (p.Phe1635Ile) | |
| X | g.108157141G>A | CA518100808 | COL4A6 | c.4932C>T (p.Tyr1644=) c.4935C>T (p.Tyr1645=) c.4983C>T (p.Tyr1661=) c.4761C>T (p.Tyr1587=) c.4896C>T (p.Tyr1632=) c.4860C>T (p.Tyr1620=) c.4986C>T (p.Tyr1662=) c.4914C>T (p.Tyr1638=) c.4902C>T (p.Tyr1634=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157141G>C | CA413848305 | COL4A6 | c.4932C>G (p.Tyr1644Ter) c.4935C>G (p.Tyr1645Ter) c.4983C>G (p.Tyr1661Ter) c.4761C>G (p.Tyr1587Ter) c.4896C>G (p.Tyr1632Ter) c.4860C>G (p.Tyr1620Ter) c.4986C>G (p.Tyr1662Ter) c.4914C>G (p.Tyr1638Ter) c.4902C>G (p.Tyr1634Ter) | |
| X | g.108157141G= | CA2450541964 | COL4A6 | c.4932C= (p.Tyr1644=) c.4935C= (p.Tyr1645=) c.4983C= (p.Tyr1661=) c.4761C= (p.Tyr1587=) c.4896C= (p.Tyr1632=) c.4860C= (p.Tyr1620=) c.4986C= (p.Tyr1662=) c.4914C= (p.Tyr1638=) c.4902C= (p.Tyr1634=) | |
| X | g.108157141G>T | CA413848306 | COL4A6 | c.4932C>A (p.Tyr1644Ter) c.4935C>A (p.Tyr1645Ter) c.4983C>A (p.Tyr1661Ter) c.4761C>A (p.Tyr1587Ter) c.4896C>A (p.Tyr1632Ter) c.4860C>A (p.Tyr1620Ter) c.4986C>A (p.Tyr1662Ter) c.4914C>A (p.Tyr1638Ter) c.4902C>A (p.Tyr1634Ter) | dbSNP |
| X | g.108157142T>A | CA413848307 | COL4A6 | c.4931A>T (p.Tyr1644Phe) c.4934A>T (p.Tyr1645Phe) c.4982A>T (p.Tyr1661Phe) c.4760A>T (p.Tyr1587Phe) c.4895A>T (p.Tyr1632Phe) c.4859A>T (p.Tyr1620Phe) c.4985A>T (p.Tyr1662Phe) c.4913A>T (p.Tyr1638Phe) c.4901A>T (p.Tyr1634Phe) | |
| X | g.108157142T>C | CA413848309 | COL4A6 | c.4931A>G (p.Tyr1644Cys) c.4934A>G (p.Tyr1645Cys) c.4982A>G (p.Tyr1661Cys) c.4760A>G (p.Tyr1587Cys) c.4895A>G (p.Tyr1632Cys) c.4859A>G (p.Tyr1620Cys) c.4985A>G (p.Tyr1662Cys) c.4913A>G (p.Tyr1638Cys) c.4901A>G (p.Tyr1634Cys) | gnomAD v4 |
| X | g.108157142T>G | CA413848310 | COL4A6 | c.4931A>C (p.Tyr1644Ser) c.4934A>C (p.Tyr1645Ser) c.4982A>C (p.Tyr1661Ser) c.4760A>C (p.Tyr1587Ser) c.4895A>C (p.Tyr1632Ser) c.4859A>C (p.Tyr1620Ser) c.4985A>C (p.Tyr1662Ser) c.4913A>C (p.Tyr1638Ser) c.4901A>C (p.Tyr1634Ser) | |
| X | g.108157143A>C | CA413848312 | COL4A6 | c.4930T>G (p.Tyr1644Asp) c.4933T>G (p.Tyr1645Asp) c.4981T>G (p.Tyr1661Asp) c.4759T>G (p.Tyr1587Asp) c.4894T>G (p.Tyr1632Asp) c.4858T>G (p.Tyr1620Asp) c.4984T>G (p.Tyr1662Asp) c.4912T>G (p.Tyr1638Asp) c.4900T>G (p.Tyr1634Asp) | |
| X | g.108157143A>G | CA413848314 | COL4A6 | c.4930T>C (p.Tyr1644His) c.4933T>C (p.Tyr1645His) c.4981T>C (p.Tyr1661His) c.4759T>C (p.Tyr1587His) c.4894T>C (p.Tyr1632His) c.4858T>C (p.Tyr1620His) c.4984T>C (p.Tyr1662His) c.4912T>C (p.Tyr1638His) c.4900T>C (p.Tyr1634His) | |
| X | g.108157143A>T | CA413848315 | COL4A6 | c.4930T>A (p.Tyr1644Asn) c.4933T>A (p.Tyr1645Asn) c.4981T>A (p.Tyr1661Asn) c.4759T>A (p.Tyr1587Asn) c.4894T>A (p.Tyr1632Asn) c.4858T>A (p.Tyr1620Asn) c.4984T>A (p.Tyr1662Asn) c.4912T>A (p.Tyr1638Asn) c.4900T>A (p.Tyr1634Asn) | |
| X | g.108157144G>A | CA518100809 | COL4A6 | c.4929C>T (p.His1643=) c.4932C>T (p.His1644=) c.4980C>T (p.His1660=) c.4758C>T (p.His1586=) c.4893C>T (p.His1631=) c.4857C>T (p.His1619=) c.4983C>T (p.His1661=) c.4911C>T (p.His1637=) c.4899C>T (p.His1633=) | |
| X | g.108157144G>C | CA413848317 | COL4A6 | c.4929C>G (p.His1643Gln) c.4932C>G (p.His1644Gln) c.4980C>G (p.His1660Gln) c.4758C>G (p.His1586Gln) c.4893C>G (p.His1631Gln) c.4857C>G (p.His1619Gln) c.4983C>G (p.His1661Gln) c.4911C>G (p.His1637Gln) c.4899C>G (p.His1633Gln) | |
| X | g.108157144G>T | CA413848318 | COL4A6 | c.4929C>A (p.His1643Gln) c.4932C>A (p.His1644Gln) c.4980C>A (p.His1660Gln) c.4758C>A (p.His1586Gln) c.4893C>A (p.His1631Gln) c.4857C>A (p.His1619Gln) c.4983C>A (p.His1661Gln) c.4911C>A (p.His1637Gln) c.4899C>A (p.His1633Gln) | |
| X | g.108157145T>A | CA413848324 | COL4A6 | c.4928A>T (p.His1643Leu) c.4931A>T (p.His1644Leu) c.4979A>T (p.His1660Leu) c.4757A>T (p.His1586Leu) c.4892A>T (p.His1631Leu) c.4856A>T (p.His1619Leu) c.4982A>T (p.His1661Leu) c.4910A>T (p.His1637Leu) c.4898A>T (p.His1633Leu) | |
| X | g.108157145T>C | CA413848320 | COL4A6 | c.4928A>G (p.His1643Arg) c.4931A>G (p.His1644Arg) c.4979A>G (p.His1660Arg) c.4757A>G (p.His1586Arg) c.4892A>G (p.His1631Arg) c.4856A>G (p.His1619Arg) c.4982A>G (p.His1661Arg) c.4910A>G (p.His1637Arg) c.4898A>G (p.His1633Arg) | |
| X | g.108157145T>G | CA413848322 | COL4A6 | c.4928A>C (p.His1643Pro) c.4931A>C (p.His1644Pro) c.4979A>C (p.His1660Pro) c.4757A>C (p.His1586Pro) c.4892A>C (p.His1631Pro) c.4856A>C (p.His1619Pro) c.4982A>C (p.His1661Pro) c.4910A>C (p.His1637Pro) c.4898A>C (p.His1633Pro) | |
| X | g.108157145T= | CA2450541965 | COL4A6 | c.4928A= (p.His1643=) c.4931A= (p.His1644=) c.4979A= (p.His1660=) c.4757A= (p.His1586=) c.4892A= (p.His1631=) c.4856A= (p.His1619=) c.4982A= (p.His1661=) c.4910A= (p.His1637=) c.4898A= (p.His1633=) | |
| X | g.108157146G>A | CA413848326 | COL4A6 | c.4927C>T (p.His1643Tyr) c.4930C>T (p.His1644Tyr) c.4978C>T (p.His1660Tyr) c.4756C>T (p.His1586Tyr) c.4891C>T (p.His1631Tyr) c.4855C>T (p.His1619Tyr) c.4981C>T (p.His1661Tyr) c.4909C>T (p.His1637Tyr) c.4897C>T (p.His1633Tyr) | |
| X | g.108157146G>C | CA413848328 | COL4A6 | c.4927C>G (p.His1643Asp) c.4930C>G (p.His1644Asp) c.4978C>G (p.His1660Asp) c.4756C>G (p.His1586Asp) c.4891C>G (p.His1631Asp) c.4855C>G (p.His1619Asp) c.4981C>G (p.His1661Asp) c.4909C>G (p.His1637Asp) c.4897C>G (p.His1633Asp) | |
| X | g.108157146G>T | CA413848329 | COL4A6 | c.4927C>A (p.His1643Asn) c.4930C>A (p.His1644Asn) c.4978C>A (p.His1660Asn) c.4756C>A (p.His1586Asn) c.4891C>A (p.His1631Asn) c.4855C>A (p.His1619Asn) c.4981C>A (p.His1661Asn) c.4909C>A (p.His1637Asn) c.4897C>A (p.His1633Asn) | |
| X | g.108157147dup | CA2450541966 | COL4A6 | c.4927dup (p.His1643ProfsTer27) c.4930dup (p.His1644ProfsTer27) c.4978dup (p.His1660ProfsTer27) c.4756dup (p.His1586ProfsTer27) c.4891dup (p.His1631ProfsTer27) c.4855dup (p.His1619ProfsTer27) c.4981dup (p.His1661ProfsTer27) c.4909dup (p.His1637ProfsTer27) c.4897dup (p.His1633ProfsTer27) | dbSNP |
| X | g.108157147G>A | CA518100810 | COL4A6 | c.4926C>T (p.Cys1642=) c.4929C>T (p.Cys1643=) c.4977C>T (p.Cys1659=) c.4755C>T (p.Cys1585=) c.4890C>T (p.Cys1630=) c.4854C>T (p.Cys1618=) c.4980C>T (p.Cys1660=) c.4908C>T (p.Cys1636=) c.4896C>T (p.Cys1632=) | |
| X | g.108157147G>C | CA413848331 | COL4A6 | c.4926C>G (p.Cys1642Trp) c.4929C>G (p.Cys1643Trp) c.4977C>G (p.Cys1659Trp) c.4755C>G (p.Cys1585Trp) c.4890C>G (p.Cys1630Trp) c.4854C>G (p.Cys1618Trp) c.4980C>G (p.Cys1660Trp) c.4908C>G (p.Cys1636Trp) c.4896C>G (p.Cys1632Trp) | |
| X | g.108157147G>T | CA413848333 | COL4A6 | c.4926C>A (p.Cys1642Ter) c.4929C>A (p.Cys1643Ter) c.4977C>A (p.Cys1659Ter) c.4755C>A (p.Cys1585Ter) c.4890C>A (p.Cys1630Ter) c.4854C>A (p.Cys1618Ter) c.4980C>A (p.Cys1660Ter) c.4908C>A (p.Cys1636Ter) c.4896C>A (p.Cys1632Ter) | |
| X | g.108157148C>A | CA413848338 | COL4A6 | c.4925G>T (p.Cys1642Phe) c.4928G>T (p.Cys1643Phe) c.4976G>T (p.Cys1659Phe) c.4754G>T (p.Cys1585Phe) c.4889G>T (p.Cys1630Phe) c.4853G>T (p.Cys1618Phe) c.4979G>T (p.Cys1660Phe) c.4907G>T (p.Cys1636Phe) c.4895G>T (p.Cys1632Phe) | |
| X | g.108157148C>G | CA413848337 | COL4A6 | c.4925G>C (p.Cys1642Ser) c.4928G>C (p.Cys1643Ser) c.4976G>C (p.Cys1659Ser) c.4754G>C (p.Cys1585Ser) c.4889G>C (p.Cys1630Ser) c.4853G>C (p.Cys1618Ser) c.4979G>C (p.Cys1660Ser) c.4907G>C (p.Cys1636Ser) c.4895G>C (p.Cys1632Ser) | |
| X | g.108157148C>T | CA413848335 | COL4A6 | c.4925G>A (p.Cys1642Tyr) c.4928G>A (p.Cys1643Tyr) c.4976G>A (p.Cys1659Tyr) c.4754G>A (p.Cys1585Tyr) c.4889G>A (p.Cys1630Tyr) c.4853G>A (p.Cys1618Tyr) c.4979G>A (p.Cys1660Tyr) c.4907G>A (p.Cys1636Tyr) c.4895G>A (p.Cys1632Tyr) | |
| X | g.108157149A= | CA2450541967 | COL4A6 | c.4924T= (p.Cys1642=) c.4927T= (p.Cys1643=) c.4975T= (p.Cys1659=) c.4753T= (p.Cys1585=) c.4888T= (p.Cys1630=) c.4852T= (p.Cys1618=) c.4978T= (p.Cys1660=) c.4906T= (p.Cys1636=) c.4894T= (p.Cys1632=) | |
| X | g.108157149A>C | CA413848340 | COL4A6 | c.4924T>G (p.Cys1642Gly) c.4927T>G (p.Cys1643Gly) c.4975T>G (p.Cys1659Gly) c.4753T>G (p.Cys1585Gly) c.4888T>G (p.Cys1630Gly) c.4852T>G (p.Cys1618Gly) c.4978T>G (p.Cys1660Gly) c.4906T>G (p.Cys1636Gly) c.4894T>G (p.Cys1632Gly) | |
| X | g.108157149A>G | CA413848341 | COL4A6 | c.4924T>C (p.Cys1642Arg) c.4927T>C (p.Cys1643Arg) c.4975T>C (p.Cys1659Arg) c.4753T>C (p.Cys1585Arg) c.4888T>C (p.Cys1630Arg) c.4852T>C (p.Cys1618Arg) c.4978T>C (p.Cys1660Arg) c.4906T>C (p.Cys1636Arg) c.4894T>C (p.Cys1632Arg) | |
| X | g.108157149A>T | CA413848343 | COL4A6 | c.4924T>A (p.Cys1642Ser) c.4927T>A (p.Cys1643Ser) c.4975T>A (p.Cys1659Ser) c.4753T>A (p.Cys1585Ser) c.4888T>A (p.Cys1630Ser) c.4852T>A (p.Cys1618Ser) c.4978T>A (p.Cys1660Ser) c.4906T>A (p.Cys1636Ser) c.4894T>A (p.Cys1632Ser) | |
| X | g.108157150G>A | CA518100811 | COL4A6 | c.4923C>T (p.Thr1641=) c.4926C>T (p.Thr1642=) c.4974C>T (p.Thr1658=) c.4752C>T (p.Thr1584=) c.4887C>T (p.Thr1629=) c.4851C>T (p.Thr1617=) c.4977C>T (p.Thr1659=) c.4905C>T (p.Thr1635=) c.4893C>T (p.Thr1631=) | |
| X | g.108157150G>C | CA518100812 | COL4A6 | c.4923C>G (p.Thr1641=) c.4926C>G (p.Thr1642=) c.4974C>G (p.Thr1658=) c.4752C>G (p.Thr1584=) c.4887C>G (p.Thr1629=) c.4851C>G (p.Thr1617=) c.4977C>G (p.Thr1659=) c.4905C>G (p.Thr1635=) c.4893C>G (p.Thr1631=) | |
| X | g.108157150G>T | CA518100813 | COL4A6 | c.4923C>A (p.Thr1641=) c.4926C>A (p.Thr1642=) c.4974C>A (p.Thr1658=) c.4752C>A (p.Thr1584=) c.4887C>A (p.Thr1629=) c.4851C>A (p.Thr1617=) c.4977C>A (p.Thr1659=) c.4905C>A (p.Thr1635=) c.4893C>A (p.Thr1631=) | |
| X | g.108157151dup | CA2450541968 | COL4A6 | c.4923dup (p.Cys1642LeufsTer28) c.4926dup (p.Cys1643LeufsTer28) c.4974dup (p.Cys1659LeufsTer28) c.4752dup (p.Cys1585LeufsTer28) c.4887dup (p.Cys1630LeufsTer28) c.4851dup (p.Cys1618LeufsTer28) c.4977dup (p.Cys1660LeufsTer28) c.4905dup (p.Cys1636LeufsTer28) c.4893dup (p.Cys1632LeufsTer28) | dbSNP |
| X | g.108157151G>A | CA413848345 | COL4A6 | c.4922C>T (p.Thr1641Ile) c.4925C>T (p.Thr1642Ile) c.4973C>T (p.Thr1658Ile) c.4751C>T (p.Thr1584Ile) c.4886C>T (p.Thr1629Ile) c.4850C>T (p.Thr1617Ile) c.4976C>T (p.Thr1659Ile) c.4904C>T (p.Thr1635Ile) c.4892C>T (p.Thr1631Ile) | gnomAD v4 |
| X | g.108157151G>C | CA413848347 | COL4A6 | c.4922C>G (p.Thr1641Ser) c.4925C>G (p.Thr1642Ser) c.4973C>G (p.Thr1658Ser) c.4751C>G (p.Thr1584Ser) c.4886C>G (p.Thr1629Ser) c.4850C>G (p.Thr1617Ser) c.4976C>G (p.Thr1659Ser) c.4904C>G (p.Thr1635Ser) c.4892C>G (p.Thr1631Ser) | |
| X | g.108157151G>T | CA413848348 | COL4A6 | c.4922C>A (p.Thr1641Asn) c.4925C>A (p.Thr1642Asn) c.4973C>A (p.Thr1658Asn) c.4751C>A (p.Thr1584Asn) c.4886C>A (p.Thr1629Asn) c.4850C>A (p.Thr1617Asn) c.4976C>A (p.Thr1659Asn) c.4904C>A (p.Thr1635Asn) c.4892C>A (p.Thr1631Asn) | |
| X | g.108157151_108157157delinsGTGCCTC | CA2450541969 | COL4A6 | c.4916_4922delinsGAGGCAC (p.Arg1639=) c.4919_4925delinsGAGGCAC (p.Arg1640=) c.4967_4973delinsGAGGCAC (p.Arg1656=) c.4745_4751delinsGAGGCAC (p.Arg1582=) c.4880_4886delinsGAGGCAC (p.Arg1627=) c.4844_4850delinsGAGGCAC (p.Arg1615=) c.4970_4976delinsGAGGCAC (p.Arg1657=) c.4898_4904delinsGAGGCAC (p.Arg1633=) c.4886_4892delinsGAGGCAC (p.Arg1629=) | |
| X | g.108157152del | CA644063396 | COL4A6 | c.4921del (p.Thr1641ProfsTer13) c.4924del (p.Thr1642ProfsTer13) c.4972del (p.Thr1658ProfsTer13) c.4750del (p.Thr1584ProfsTer13) c.4885del (p.Thr1629ProfsTer13) c.4849del (p.Thr1617ProfsTer13) c.4975del (p.Thr1659ProfsTer13) c.4903del (p.Thr1635ProfsTer13) c.4891del (p.Thr1631ProfsTer13) | gnomAD v2 |
| X | g.108157152T>A | CA413848355 | COL4A6 | c.4921A>T (p.Thr1641Ser) c.4924A>T (p.Thr1642Ser) c.4972A>T (p.Thr1658Ser) c.4750A>T (p.Thr1584Ser) c.4885A>T (p.Thr1629Ser) c.4849A>T (p.Thr1617Ser) c.4975A>T (p.Thr1659Ser) c.4903A>T (p.Thr1635Ser) c.4891A>T (p.Thr1631Ser) | |
| X | g.108157152T>C | CA413848351 | COL4A6 | c.4921A>G (p.Thr1641Ala) c.4924A>G (p.Thr1642Ala) c.4972A>G (p.Thr1658Ala) c.4750A>G (p.Thr1584Ala) c.4885A>G (p.Thr1629Ala) c.4849A>G (p.Thr1617Ala) c.4975A>G (p.Thr1659Ala) c.4903A>G (p.Thr1635Ala) c.4891A>G (p.Thr1631Ala) | |
| X | g.108157152T>G | CA10487085 | COL4A6 | c.4921A>C (p.Thr1641Pro) c.4924A>C (p.Thr1642Pro) c.4972A>C (p.Thr1658Pro) c.4750A>C (p.Thr1584Pro) c.4885A>C (p.Thr1629Pro) c.4849A>C (p.Thr1617Pro) c.4975A>C (p.Thr1659Pro) c.4903A>C (p.Thr1635Pro) c.4891A>C (p.Thr1631Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157152T= | CA2450541970 | COL4A6 | c.4921A= (p.Thr1641=) c.4924A= (p.Thr1642=) c.4972A= (p.Thr1658=) c.4750A= (p.Thr1584=) c.4885A= (p.Thr1629=) c.4849A= (p.Thr1617=) c.4975A= (p.Thr1659=) c.4903A= (p.Thr1635=) c.4891A= (p.Thr1631=) | |
| X | g.108157152_108157157del | CA10487084 | COL4A6 | c.4916_4921del (p.Arg1639_Thr1641delinsPro) c.4919_4924del (p.Arg1640_Thr1642delinsPro) c.4967_4972del (p.Arg1656_Thr1658delinsPro) c.4745_4750del (p.Arg1582_Thr1584delinsPro) c.4880_4885del (p.Arg1627_Thr1629delinsPro) c.4844_4849del (p.Arg1615_Thr1617delinsPro) c.4970_4975del (p.Arg1657_Thr1659delinsPro) c.4898_4903del (p.Arg1633_Thr1635delinsPro) c.4886_4891del (p.Arg1629_Thr1631delinsPro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157153G>A | CA518100814 | COL4A6 | c.4920C>T (p.Gly1640=) c.4923C>T (p.Gly1641=) c.4971C>T (p.Gly1657=) c.4749C>T (p.Gly1583=) c.4884C>T (p.Gly1628=) c.4848C>T (p.Gly1616=) c.4974C>T (p.Gly1658=) c.4902C>T (p.Gly1634=) c.4890C>T (p.Gly1630=) | |
| X | g.108157153G>C | CA518100815 | COL4A6 | c.4920C>G (p.Gly1640=) c.4923C>G (p.Gly1641=) c.4971C>G (p.Gly1657=) c.4749C>G (p.Gly1583=) c.4884C>G (p.Gly1628=) c.4848C>G (p.Gly1616=) c.4974C>G (p.Gly1658=) c.4902C>G (p.Gly1634=) c.4890C>G (p.Gly1630=) | |
| X | g.108157153G>T | CA518100816 | COL4A6 | c.4920C>A (p.Gly1640=) c.4923C>A (p.Gly1641=) c.4971C>A (p.Gly1657=) c.4749C>A (p.Gly1583=) c.4884C>A (p.Gly1628=) c.4848C>A (p.Gly1616=) c.4974C>A (p.Gly1658=) c.4902C>A (p.Gly1634=) c.4890C>A (p.Gly1630=) | |
| X | g.108157153_108157157delinsGCCTC | CA2450541971 | COL4A6 | c.4916_4920delinsGAGGC (p.Arg1639=) c.4919_4923delinsGAGGC (p.Arg1640=) c.4967_4971delinsGAGGC (p.Arg1656=) c.4745_4749delinsGAGGC (p.Arg1582=) c.4880_4884delinsGAGGC (p.Arg1627=) c.4844_4848delinsGAGGC (p.Arg1615=) c.4970_4974delinsGAGGC (p.Arg1657=) c.4898_4902delinsGAGGC (p.Arg1633=) c.4886_4890delinsGAGGC (p.Arg1629=) | |
| X | g.108157154C>A | CA413848357 | COL4A6 | c.4919G>T (p.Gly1640Val) c.4922G>T (p.Gly1641Val) c.4970G>T (p.Gly1657Val) c.4748G>T (p.Gly1583Val) c.4883G>T (p.Gly1628Val) c.4847G>T (p.Gly1616Val) c.4973G>T (p.Gly1658Val) c.4901G>T (p.Gly1634Val) c.4889G>T (p.Gly1630Val) | |
| X | g.108157154C= | CA2450541972 | COL4A6 | c.4919G= (p.Gly1640=) c.4922G= (p.Gly1641=) c.4970G= (p.Gly1657=) c.4748G= (p.Gly1583=) c.4883G= (p.Gly1628=) c.4847G= (p.Gly1616=) c.4973G= (p.Gly1658=) c.4901G= (p.Gly1634=) c.4889G= (p.Gly1630=) | |
| X | g.108157154C>G | CA10487087 | COL4A6 | c.4919G>C (p.Gly1640Ala) c.4922G>C (p.Gly1641Ala) c.4970G>C (p.Gly1657Ala) c.4748G>C (p.Gly1583Ala) c.4883G>C (p.Gly1628Ala) c.4847G>C (p.Gly1616Ala) c.4973G>C (p.Gly1658Ala) c.4901G>C (p.Gly1634Ala) c.4889G>C (p.Gly1630Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157154C>T | CA413848358 | COL4A6 | c.4919G>A (p.Gly1640Asp) c.4922G>A (p.Gly1641Asp) c.4970G>A (p.Gly1657Asp) c.4748G>A (p.Gly1583Asp) c.4883G>A (p.Gly1628Asp) c.4847G>A (p.Gly1616Asp) c.4973G>A (p.Gly1658Asp) c.4901G>A (p.Gly1634Asp) c.4889G>A (p.Gly1630Asp) | |
| X | g.108157154_108157157del | CA10487086 | COL4A6 | c.4916_4919del (p.Arg1639ProfsTer14) c.4919_4922del (p.Arg1640ProfsTer14) c.4967_4970del (p.Arg1656ProfsTer14) c.4745_4748del (p.Arg1582ProfsTer14) c.4880_4883del (p.Arg1627ProfsTer14) c.4844_4847del (p.Arg1615ProfsTer14) c.4970_4973del (p.Arg1657ProfsTer14) c.4898_4901del (p.Arg1633ProfsTer14) c.4886_4889del (p.Arg1629ProfsTer14) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157155_108157157del | CA644063397 | COL4A6 | c.4917_4919del (p.Gly1640del) c.4920_4922del (p.Gly1641del) c.4968_4970del (p.Gly1657del) c.4746_4748del (p.Gly1583del) c.4881_4883del (p.Gly1628del) c.4845_4847del (p.Gly1616del) c.4971_4973del (p.Gly1658del) c.4899_4901del (p.Gly1634del) c.4887_4889del (p.Gly1630del) | gnomAD v2 |
| X | g.108157155C>A | CA413848360 | COL4A6 | c.4918G>T (p.Gly1640Cys) c.4921G>T (p.Gly1641Cys) c.4969G>T (p.Gly1657Cys) c.4747G>T (p.Gly1583Cys) c.4882G>T (p.Gly1628Cys) c.4846G>T (p.Gly1616Cys) c.4972G>T (p.Gly1658Cys) c.4900G>T (p.Gly1634Cys) c.4888G>T (p.Gly1630Cys) | |
| X | g.108157155C= | CA2450541973 | COL4A6 | c.4918G= (p.Gly1640=) c.4921G= (p.Gly1641=) c.4969G= (p.Gly1657=) c.4747G= (p.Gly1583=) c.4882G= (p.Gly1628=) c.4846G= (p.Gly1616=) c.4972G= (p.Gly1658=) c.4900G= (p.Gly1634=) c.4888G= (p.Gly1630=) | |
| X | g.108157155C>G | CA10487089 | COL4A6 | c.4918G>C (p.Gly1640Arg) c.4921G>C (p.Gly1641Arg) c.4969G>C (p.Gly1657Arg) c.4747G>C (p.Gly1583Arg) c.4882G>C (p.Gly1628Arg) c.4846G>C (p.Gly1616Arg) c.4972G>C (p.Gly1658Arg) c.4900G>C (p.Gly1634Arg) c.4888G>C (p.Gly1630Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157155C>T | CA10487088 | COL4A6 | c.4918G>A (p.Gly1640Ser) c.4921G>A (p.Gly1641Ser) c.4969G>A (p.Gly1657Ser) c.4747G>A (p.Gly1583Ser) c.4882G>A (p.Gly1628Ser) c.4846G>A (p.Gly1616Ser) c.4972G>A (p.Gly1658Ser) c.4900G>A (p.Gly1634Ser) c.4888G>A (p.Gly1630Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157156T>A | CA518100819 | COL4A6 | c.4917A>T (p.Arg1639=) c.4920A>T (p.Arg1640=) c.4968A>T (p.Arg1656=) c.4746A>T (p.Arg1582=) c.4881A>T (p.Arg1627=) c.4845A>T (p.Arg1615=) c.4971A>T (p.Arg1657=) c.4899A>T (p.Arg1633=) c.4887A>T (p.Arg1629=) | |
| X | g.108157156T>C | CA518100818 | COL4A6 | c.4917A>G (p.Arg1639=) c.4920A>G (p.Arg1640=) c.4968A>G (p.Arg1656=) c.4746A>G (p.Arg1582=) c.4881A>G (p.Arg1627=) c.4845A>G (p.Arg1615=) c.4971A>G (p.Arg1657=) c.4899A>G (p.Arg1633=) c.4887A>G (p.Arg1629=) | gnomAD v4 |
| X | g.108157156T>G | CA518100817 | COL4A6 | c.4917A>C (p.Arg1639=) c.4920A>C (p.Arg1640=) c.4968A>C (p.Arg1656=) c.4746A>C (p.Arg1582=) c.4881A>C (p.Arg1627=) c.4845A>C (p.Arg1615=) c.4971A>C (p.Arg1657=) c.4899A>C (p.Arg1633=) c.4887A>C (p.Arg1629=) | |
| X | g.108157157C>A | CA10487090 | COL4A6 | c.4916G>T (p.Arg1639Leu) c.4919G>T (p.Arg1640Leu) c.4967G>T (p.Arg1656Leu) c.4745G>T (p.Arg1582Leu) c.4880G>T (p.Arg1627Leu) c.4844G>T (p.Arg1615Leu) c.4970G>T (p.Arg1657Leu) c.4898G>T (p.Arg1633Leu) c.4886G>T (p.Arg1629Leu) | dbSNP ExAC |
| X | g.108157157C= | CA2450541974 | COL4A6 | c.4916G= (p.Arg1639=) c.4919G= (p.Arg1640=) c.4967G= (p.Arg1656=) c.4745G= (p.Arg1582=) c.4880G= (p.Arg1627=) c.4844G= (p.Arg1615=) c.4970G= (p.Arg1657=) c.4898G= (p.Arg1633=) c.4886G= (p.Arg1629=) | |
| X | g.108157157C>G | CA413848365 | COL4A6 | c.4916G>C (p.Arg1639Pro) c.4919G>C (p.Arg1640Pro) c.4967G>C (p.Arg1656Pro) c.4745G>C (p.Arg1582Pro) c.4880G>C (p.Arg1627Pro) c.4844G>C (p.Arg1615Pro) c.4970G>C (p.Arg1657Pro) c.4898G>C (p.Arg1633Pro) c.4886G>C (p.Arg1629Pro) | |
| X | g.108157157C>T | CA10487091 | COL4A6 | c.4916G>A (p.Arg1639Gln) c.4919G>A (p.Arg1640Gln) c.4967G>A (p.Arg1656Gln) c.4745G>A (p.Arg1582Gln) c.4880G>A (p.Arg1627Gln) c.4844G>A (p.Arg1615Gln) c.4970G>A (p.Arg1657Gln) c.4898G>A (p.Arg1633Gln) c.4886G>A (p.Arg1629Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157158G>A | CA413848368 | COL4A6 | c.4915C>T (p.Arg1639Ter) c.4918C>T (p.Arg1640Ter) c.4966C>T (p.Arg1656Ter) c.4744C>T (p.Arg1582Ter) c.4879C>T (p.Arg1627Ter) c.4843C>T (p.Arg1615Ter) c.4969C>T (p.Arg1657Ter) c.4897C>T (p.Arg1633Ter) c.4885C>T (p.Arg1629Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157158G>C | CA10487092 | COL4A6 | c.4915C>G (p.Arg1639Gly) c.4918C>G (p.Arg1640Gly) c.4966C>G (p.Arg1656Gly) c.4744C>G (p.Arg1582Gly) c.4879C>G (p.Arg1627Gly) c.4843C>G (p.Arg1615Gly) c.4969C>G (p.Arg1657Gly) c.4897C>G (p.Arg1633Gly) c.4885C>G (p.Arg1629Gly) | dbSNP ExAC |
| X | g.108157158G= | CA2450541975 | COL4A6 | c.4915C= (p.Arg1639=) c.4918C= (p.Arg1640=) c.4966C= (p.Arg1656=) c.4744C= (p.Arg1582=) c.4879C= (p.Arg1627=) c.4843C= (p.Arg1615=) c.4969C= (p.Arg1657=) c.4897C= (p.Arg1633=) c.4885C= (p.Arg1629=) | |
| X | g.108157158G>T | CA518100820 | COL4A6 | c.4915C>A (p.Arg1639=) c.4918C>A (p.Arg1640=) c.4966C>A (p.Arg1656=) c.4744C>A (p.Arg1582=) c.4879C>A (p.Arg1627=) c.4843C>A (p.Arg1615=) c.4969C>A (p.Arg1657=) c.4897C>A (p.Arg1633=) c.4885C>A (p.Arg1629=) | |
| X | g.108157159G>A | CA518100821 | COL4A6 | c.4914C>T (p.Ala1638=) c.4917C>T (p.Ala1639=) c.4965C>T (p.Ala1655=) c.4743C>T (p.Ala1581=) c.4878C>T (p.Ala1626=) c.4842C>T (p.Ala1614=) c.4968C>T (p.Ala1656=) c.4896C>T (p.Ala1632=) c.4884C>T (p.Ala1628=) | |
| X | g.108157159G>C | CA518100822 | COL4A6 | c.4914C>G (p.Ala1638=) c.4917C>G (p.Ala1639=) c.4965C>G (p.Ala1655=) c.4743C>G (p.Ala1581=) c.4878C>G (p.Ala1626=) c.4842C>G (p.Ala1614=) c.4968C>G (p.Ala1656=) c.4896C>G (p.Ala1632=) c.4884C>G (p.Ala1628=) | |
| X | g.108157159G>T | CA518100823 | COL4A6 | c.4914C>A (p.Ala1638=) c.4917C>A (p.Ala1639=) c.4965C>A (p.Ala1655=) c.4743C>A (p.Ala1581=) c.4878C>A (p.Ala1626=) c.4842C>A (p.Ala1614=) c.4968C>A (p.Ala1656=) c.4896C>A (p.Ala1632=) c.4884C>A (p.Ala1628=) | |
| X | g.108157160G>A | CA413848374 | COL4A6 | c.4913C>T (p.Ala1638Val) c.4916C>T (p.Ala1639Val) c.4964C>T (p.Ala1655Val) c.4742C>T (p.Ala1581Val) c.4877C>T (p.Ala1626Val) c.4841C>T (p.Ala1614Val) c.4967C>T (p.Ala1656Val) c.4895C>T (p.Ala1632Val) c.4883C>T (p.Ala1628Val) | |
| X | g.108157160G>C | CA413848371 | COL4A6 | c.4913C>G (p.Ala1638Gly) c.4916C>G (p.Ala1639Gly) c.4964C>G (p.Ala1655Gly) c.4742C>G (p.Ala1581Gly) c.4877C>G (p.Ala1626Gly) c.4841C>G (p.Ala1614Gly) c.4967C>G (p.Ala1656Gly) c.4895C>G (p.Ala1632Gly) c.4883C>G (p.Ala1628Gly) | |
| X | g.108157160G>T | CA413848373 | COL4A6 | c.4913C>A (p.Ala1638Asp) c.4916C>A (p.Ala1639Asp) c.4964C>A (p.Ala1655Asp) c.4742C>A (p.Ala1581Asp) c.4877C>A (p.Ala1626Asp) c.4841C>A (p.Ala1614Asp) c.4967C>A (p.Ala1656Asp) c.4895C>A (p.Ala1632Asp) c.4883C>A (p.Ala1628Asp) | |
| X | g.108157161C>A | CA413848376 | COL4A6 | c.4912G>T (p.Ala1638Ser) c.4915G>T (p.Ala1639Ser) c.4963G>T (p.Ala1655Ser) c.4741G>T (p.Ala1581Ser) c.4876G>T (p.Ala1626Ser) c.4840G>T (p.Ala1614Ser) c.4966G>T (p.Ala1656Ser) c.4894G>T (p.Ala1632Ser) c.4882G>T (p.Ala1628Ser) | |
| X | g.108157161C= | CA2450541976 | COL4A6 | c.4912G= (p.Ala1638=) c.4915G= (p.Ala1639=) c.4963G= (p.Ala1655=) c.4741G= (p.Ala1581=) c.4876G= (p.Ala1626=) c.4840G= (p.Ala1614=) c.4966G= (p.Ala1656=) c.4894G= (p.Ala1632=) c.4882G= (p.Ala1628=) | |
| X | g.108157161C>G | CA10487093 | COL4A6 | c.4912G>C (p.Ala1638Pro) c.4915G>C (p.Ala1639Pro) c.4963G>C (p.Ala1655Pro) c.4741G>C (p.Ala1581Pro) c.4876G>C (p.Ala1626Pro) c.4840G>C (p.Ala1614Pro) c.4966G>C (p.Ala1656Pro) c.4894G>C (p.Ala1632Pro) c.4882G>C (p.Ala1628Pro) | dbSNP ExAC |
| X | g.108157161C>T | CA413848378 | COL4A6 | c.4912G>A (p.Ala1638Thr) c.4915G>A (p.Ala1639Thr) c.4963G>A (p.Ala1655Thr) c.4741G>A (p.Ala1581Thr) c.4876G>A (p.Ala1626Thr) c.4840G>A (p.Ala1614Thr) c.4966G>A (p.Ala1656Thr) c.4894G>A (p.Ala1632Thr) c.4882G>A (p.Ala1628Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157162A= | CA2450541977 | COL4A6 | c.4911T= (p.Gly1637=) c.4914T= (p.Gly1638=) c.4962T= (p.Gly1654=) c.4740T= (p.Gly1580=) c.4875T= (p.Gly1625=) c.4839T= (p.Gly1613=) c.4965T= (p.Gly1655=) c.4893T= (p.Gly1631=) c.4881T= (p.Gly1627=) | |
| X | g.108157162A>C | CA10487094 | COL4A6 | c.4911T>G (p.Gly1637=) c.4914T>G (p.Gly1638=) c.4962T>G (p.Gly1654=) c.4740T>G (p.Gly1580=) c.4875T>G (p.Gly1625=) c.4839T>G (p.Gly1613=) c.4965T>G (p.Gly1655=) c.4893T>G (p.Gly1631=) c.4881T>G (p.Gly1627=) | dbSNP ExAC |
| X | g.108157162A>G | CA518100824 | COL4A6 | c.4911T>C (p.Gly1637=) c.4914T>C (p.Gly1638=) c.4962T>C (p.Gly1654=) c.4740T>C (p.Gly1580=) c.4875T>C (p.Gly1625=) c.4839T>C (p.Gly1613=) c.4965T>C (p.Gly1655=) c.4893T>C (p.Gly1631=) c.4881T>C (p.Gly1627=) | |
| X | g.108157162A>T | CA518100825 | COL4A6 | c.4911T>A (p.Gly1637=) c.4914T>A (p.Gly1638=) c.4962T>A (p.Gly1654=) c.4740T>A (p.Gly1580=) c.4875T>A (p.Gly1625=) c.4839T>A (p.Gly1613=) c.4965T>A (p.Gly1655=) c.4893T>A (p.Gly1631=) c.4881T>A (p.Gly1627=) | |
| X | g.108157163C>A | CA413848381 | COL4A6 | c.4910G>T (p.Gly1637Val) c.4913G>T (p.Gly1638Val) c.4961G>T (p.Gly1654Val) c.4739G>T (p.Gly1580Val) c.4874G>T (p.Gly1625Val) c.4838G>T (p.Gly1613Val) c.4964G>T (p.Gly1655Val) c.4892G>T (p.Gly1631Val) c.4880G>T (p.Gly1627Val) | |
| X | g.108157163C>G | CA413848383 | COL4A6 | c.4910G>C (p.Gly1637Ala) c.4913G>C (p.Gly1638Ala) c.4961G>C (p.Gly1654Ala) c.4739G>C (p.Gly1580Ala) c.4874G>C (p.Gly1625Ala) c.4838G>C (p.Gly1613Ala) c.4964G>C (p.Gly1655Ala) c.4892G>C (p.Gly1631Ala) c.4880G>C (p.Gly1627Ala) | |
| X | g.108157163C>T | CA413848385 | COL4A6 | c.4910G>A (p.Gly1637Asp) c.4913G>A (p.Gly1638Asp) c.4961G>A (p.Gly1654Asp) c.4739G>A (p.Gly1580Asp) c.4874G>A (p.Gly1625Asp) c.4838G>A (p.Gly1613Asp) c.4964G>A (p.Gly1655Asp) c.4892G>A (p.Gly1631Asp) c.4880G>A (p.Gly1627Asp) | |
| X | g.108157164C>A | CA413848387 | COL4A6 | c.4909G>T (p.Gly1637Cys) c.4912G>T (p.Gly1638Cys) c.4960G>T (p.Gly1654Cys) c.4738G>T (p.Gly1580Cys) c.4873G>T (p.Gly1625Cys) c.4837G>T (p.Gly1613Cys) c.4963G>T (p.Gly1655Cys) c.4891G>T (p.Gly1631Cys) c.4879G>T (p.Gly1627Cys) | |
| X | g.108157164C>G | CA413848389 | COL4A6 | c.4909G>C (p.Gly1637Arg) c.4912G>C (p.Gly1638Arg) c.4960G>C (p.Gly1654Arg) c.4738G>C (p.Gly1580Arg) c.4873G>C (p.Gly1625Arg) c.4837G>C (p.Gly1613Arg) c.4963G>C (p.Gly1655Arg) c.4891G>C (p.Gly1631Arg) c.4879G>C (p.Gly1627Arg) | |
| X | g.108157164C>T | CA413848391 | COL4A6 | c.4909G>A (p.Gly1637Ser) c.4912G>A (p.Gly1638Ser) c.4960G>A (p.Gly1654Ser) c.4738G>A (p.Gly1580Ser) c.4873G>A (p.Gly1625Ser) c.4837G>A (p.Gly1613Ser) c.4963G>A (p.Gly1655Ser) c.4891G>A (p.Gly1631Ser) c.4879G>A (p.Gly1627Ser) | gnomAD v4 |
| X | g.108157165A>C | CA413848392 | COL4A6 | c.4908T>G (p.Ser1636Arg) c.4911T>G (p.Ser1637Arg) c.4959T>G (p.Ser1653Arg) c.4737T>G (p.Ser1579Arg) c.4872T>G (p.Ser1624Arg) c.4836T>G (p.Ser1612Arg) c.4962T>G (p.Ser1654Arg) c.4890T>G (p.Ser1630Arg) c.4878T>G (p.Ser1626Arg) | |
| X | g.108157165A>G | CA518100826 | COL4A6 | c.4908T>C (p.Ser1636=) c.4911T>C (p.Ser1637=) c.4959T>C (p.Ser1653=) c.4737T>C (p.Ser1579=) c.4872T>C (p.Ser1624=) c.4836T>C (p.Ser1612=) c.4962T>C (p.Ser1654=) c.4890T>C (p.Ser1630=) c.4878T>C (p.Ser1626=) | |
| X | g.108157165A>T | CA413848394 | COL4A6 | c.4908T>A (p.Ser1636Arg) c.4911T>A (p.Ser1637Arg) c.4959T>A (p.Ser1653Arg) c.4737T>A (p.Ser1579Arg) c.4872T>A (p.Ser1624Arg) c.4836T>A (p.Ser1612Arg) c.4962T>A (p.Ser1654Arg) c.4890T>A (p.Ser1630Arg) c.4878T>A (p.Ser1626Arg) | |
| X | g.108157166C>A | CA413848400 | COL4A6 | c.4907G>T (p.Ser1636Ile) c.4910G>T (p.Ser1637Ile) c.4958G>T (p.Ser1653Ile) c.4736G>T (p.Ser1579Ile) c.4871G>T (p.Ser1624Ile) c.4835G>T (p.Ser1612Ile) c.4961G>T (p.Ser1654Ile) c.4889G>T (p.Ser1630Ile) c.4877G>T (p.Ser1626Ile) | |
| X | g.108157166C>G | CA413848398 | COL4A6 | c.4907G>C (p.Ser1636Thr) c.4910G>C (p.Ser1637Thr) c.4958G>C (p.Ser1653Thr) c.4736G>C (p.Ser1579Thr) c.4871G>C (p.Ser1624Thr) c.4835G>C (p.Ser1612Thr) c.4961G>C (p.Ser1654Thr) c.4889G>C (p.Ser1630Thr) c.4877G>C (p.Ser1626Thr) | |
| X | g.108157166C>T | CA413848396 | COL4A6 | c.4907G>A (p.Ser1636Asn) c.4910G>A (p.Ser1637Asn) c.4958G>A (p.Ser1653Asn) c.4736G>A (p.Ser1579Asn) c.4871G>A (p.Ser1624Asn) c.4835G>A (p.Ser1612Asn) c.4961G>A (p.Ser1654Asn) c.4889G>A (p.Ser1630Asn) c.4877G>A (p.Ser1626Asn) | |
| X | g.108157167T>A | CA413848402 | COL4A6 | c.4906A>T (p.Ser1636Cys) c.4909A>T (p.Ser1637Cys) c.4957A>T (p.Ser1653Cys) c.4735A>T (p.Ser1579Cys) c.4870A>T (p.Ser1624Cys) c.4834A>T (p.Ser1612Cys) c.4960A>T (p.Ser1654Cys) c.4888A>T (p.Ser1630Cys) c.4876A>T (p.Ser1626Cys) | |
| X | g.108157167T>C | CA413848403 | COL4A6 | c.4906A>G (p.Ser1636Gly) c.4909A>G (p.Ser1637Gly) c.4957A>G (p.Ser1653Gly) c.4735A>G (p.Ser1579Gly) c.4870A>G (p.Ser1624Gly) c.4834A>G (p.Ser1612Gly) c.4960A>G (p.Ser1654Gly) c.4888A>G (p.Ser1630Gly) c.4876A>G (p.Ser1626Gly) | |
| X | g.108157167T>G | CA413848405 | COL4A6 | c.4906A>C (p.Ser1636Arg) c.4909A>C (p.Ser1637Arg) c.4957A>C (p.Ser1653Arg) c.4735A>C (p.Ser1579Arg) c.4870A>C (p.Ser1624Arg) c.4834A>C (p.Ser1612Arg) c.4960A>C (p.Ser1654Arg) c.4888A>C (p.Ser1630Arg) c.4876A>C (p.Ser1626Arg) | |
| X | g.108157168G>A | CA518100827 | COL4A6 | c.4905C>T (p.Cys1635=) c.4908C>T (p.Cys1636=) c.4956C>T (p.Cys1652=) c.4734C>T (p.Cys1578=) c.4869C>T (p.Cys1623=) c.4833C>T (p.Cys1611=) c.4959C>T (p.Cys1653=) c.4887C>T (p.Cys1629=) c.4875C>T (p.Cys1625=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157168G>C | CA413848407 | COL4A6 | c.4905C>G (p.Cys1635Trp) c.4908C>G (p.Cys1636Trp) c.4956C>G (p.Cys1652Trp) c.4734C>G (p.Cys1578Trp) c.4869C>G (p.Cys1623Trp) c.4833C>G (p.Cys1611Trp) c.4959C>G (p.Cys1653Trp) c.4887C>G (p.Cys1629Trp) c.4875C>G (p.Cys1625Trp) | |
| X | g.108157168G= | CA2450541978 | COL4A6 | c.4905C= (p.Cys1635=) c.4908C= (p.Cys1636=) c.4956C= (p.Cys1652=) c.4734C= (p.Cys1578=) c.4869C= (p.Cys1623=) c.4833C= (p.Cys1611=) c.4959C= (p.Cys1653=) c.4887C= (p.Cys1629=) c.4875C= (p.Cys1625=) | |
| X | g.108157168G>T | CA413848409 | COL4A6 | c.4905C>A (p.Cys1635Ter) c.4908C>A (p.Cys1636Ter) c.4956C>A (p.Cys1652Ter) c.4734C>A (p.Cys1578Ter) c.4869C>A (p.Cys1623Ter) c.4833C>A (p.Cys1611Ter) c.4959C>A (p.Cys1653Ter) c.4887C>A (p.Cys1629Ter) c.4875C>A (p.Cys1625Ter) | |
| X | g.108157169C>A | CA413848411 | COL4A6 | c.4904G>T (p.Cys1635Phe) c.4907G>T (p.Cys1636Phe) c.4955G>T (p.Cys1652Phe) c.4733G>T (p.Cys1578Phe) c.4868G>T (p.Cys1623Phe) c.4832G>T (p.Cys1611Phe) c.4958G>T (p.Cys1653Phe) c.4886G>T (p.Cys1629Phe) c.4874G>T (p.Cys1625Phe) | |
| X | g.108157169C>G | CA413848412 | COL4A6 | c.4904G>C (p.Cys1635Ser) c.4907G>C (p.Cys1636Ser) c.4955G>C (p.Cys1652Ser) c.4733G>C (p.Cys1578Ser) c.4868G>C (p.Cys1623Ser) c.4832G>C (p.Cys1611Ser) c.4958G>C (p.Cys1653Ser) c.4886G>C (p.Cys1629Ser) c.4874G>C (p.Cys1625Ser) | |
| X | g.108157169C>T | CA413848414 | COL4A6 | c.4904G>A (p.Cys1635Tyr) c.4907G>A (p.Cys1636Tyr) c.4955G>A (p.Cys1652Tyr) c.4733G>A (p.Cys1578Tyr) c.4868G>A (p.Cys1623Tyr) c.4832G>A (p.Cys1611Tyr) c.4958G>A (p.Cys1653Tyr) c.4886G>A (p.Cys1629Tyr) c.4874G>A (p.Cys1625Tyr) | |
| X | g.108157170A>C | CA413848416 | COL4A6 | c.4903T>G (p.Cys1635Gly) c.4906T>G (p.Cys1636Gly) c.4954T>G (p.Cys1652Gly) c.4732T>G (p.Cys1578Gly) c.4867T>G (p.Cys1623Gly) c.4831T>G (p.Cys1611Gly) c.4957T>G (p.Cys1653Gly) c.4885T>G (p.Cys1629Gly) c.4873T>G (p.Cys1625Gly) | |
| X | g.108157170A>G | CA413848418 | COL4A6 | c.4903T>C (p.Cys1635Arg) c.4906T>C (p.Cys1636Arg) c.4954T>C (p.Cys1652Arg) c.4732T>C (p.Cys1578Arg) c.4867T>C (p.Cys1623Arg) c.4831T>C (p.Cys1611Arg) c.4957T>C (p.Cys1653Arg) c.4885T>C (p.Cys1629Arg) c.4873T>C (p.Cys1625Arg) | |
| X | g.108157170A>T | CA413848419 | COL4A6 | c.4903T>A (p.Cys1635Ser) c.4906T>A (p.Cys1636Ser) c.4954T>A (p.Cys1652Ser) c.4732T>A (p.Cys1578Ser) c.4867T>A (p.Cys1623Ser) c.4831T>A (p.Cys1611Ser) c.4957T>A (p.Cys1653Ser) c.4885T>A (p.Cys1629Ser) c.4873T>A (p.Cys1625Ser) | |
| X | g.108157171T>A | CA413848421 | COL4A6 | c.4902A>T (p.Glu1634Asp) c.4905A>T (p.Glu1635Asp) c.4953A>T (p.Glu1651Asp) c.4731A>T (p.Glu1577Asp) c.4866A>T (p.Glu1622Asp) c.4830A>T (p.Glu1610Asp) c.4956A>T (p.Glu1652Asp) c.4884A>T (p.Glu1628Asp) c.4872A>T (p.Glu1624Asp) | gnomAD v4 |
| X | g.108157171T>C | CA518100828 | COL4A6 | c.4902A>G (p.Glu1634=) c.4905A>G (p.Glu1635=) c.4953A>G (p.Glu1651=) c.4731A>G (p.Glu1577=) c.4866A>G (p.Glu1622=) c.4830A>G (p.Glu1610=) c.4956A>G (p.Glu1652=) c.4884A>G (p.Glu1628=) c.4872A>G (p.Glu1624=) | gnomAD v4 |
| X | g.108157171T>G | CA413848423 | COL4A6 | c.4902A>C (p.Glu1634Asp) c.4905A>C (p.Glu1635Asp) c.4953A>C (p.Glu1651Asp) c.4731A>C (p.Glu1577Asp) c.4866A>C (p.Glu1622Asp) c.4830A>C (p.Glu1610Asp) c.4956A>C (p.Glu1652Asp) c.4884A>C (p.Glu1628Asp) c.4872A>C (p.Glu1624Asp) | |
| X | g.108157172T>A | CA413848427 | COL4A6 | c.4901A>T (p.Glu1634Val) c.4904A>T (p.Glu1635Val) c.4952A>T (p.Glu1651Val) c.4730A>T (p.Glu1577Val) c.4865A>T (p.Glu1622Val) c.4829A>T (p.Glu1610Val) c.4955A>T (p.Glu1652Val) c.4883A>T (p.Glu1628Val) c.4871A>T (p.Glu1624Val) | |
| X | g.108157172T>C | CA413848432 | COL4A6 | c.4901A>G (p.Glu1634Gly) c.4904A>G (p.Glu1635Gly) c.4952A>G (p.Glu1651Gly) c.4730A>G (p.Glu1577Gly) c.4865A>G (p.Glu1622Gly) c.4829A>G (p.Glu1610Gly) c.4955A>G (p.Glu1652Gly) c.4883A>G (p.Glu1628Gly) c.4871A>G (p.Glu1624Gly) | |
| X | g.108157172T>G | CA413848425 | COL4A6 | c.4901A>C (p.Glu1634Ala) c.4904A>C (p.Glu1635Ala) c.4952A>C (p.Glu1651Ala) c.4730A>C (p.Glu1577Ala) c.4865A>C (p.Glu1622Ala) c.4829A>C (p.Glu1610Ala) c.4955A>C (p.Glu1652Ala) c.4883A>C (p.Glu1628Ala) c.4871A>C (p.Glu1624Ala) | |
| X | g.108157173C>A | CA413848434 | COL4A6 | c.4900G>T (p.Glu1634Ter) c.4903G>T (p.Glu1635Ter) c.4951G>T (p.Glu1651Ter) c.4729G>T (p.Glu1577Ter) c.4864G>T (p.Glu1622Ter) c.4828G>T (p.Glu1610Ter) c.4954G>T (p.Glu1652Ter) c.4882G>T (p.Glu1628Ter) c.4870G>T (p.Glu1624Ter) | dbSNP |
| X | g.108157173C= | CA2450541979 | COL4A6 | c.4900G= (p.Glu1634=) c.4903G= (p.Glu1635=) c.4951G= (p.Glu1651=) c.4729G= (p.Glu1577=) c.4864G= (p.Glu1622=) c.4828G= (p.Glu1610=) c.4954G= (p.Glu1652=) c.4882G= (p.Glu1628=) c.4870G= (p.Glu1624=) | |
| X | g.108157173C>G | CA413848436 | COL4A6 | c.4900G>C (p.Glu1634Gln) c.4903G>C (p.Glu1635Gln) c.4951G>C (p.Glu1651Gln) c.4729G>C (p.Glu1577Gln) c.4864G>C (p.Glu1622Gln) c.4828G>C (p.Glu1610Gln) c.4954G>C (p.Glu1652Gln) c.4882G>C (p.Glu1628Gln) c.4870G>C (p.Glu1624Gln) | |
| X | g.108157173C>T | CA10487095 | COL4A6 | c.4900G>A (p.Glu1634Lys) c.4903G>A (p.Glu1635Lys) c.4951G>A (p.Glu1651Lys) c.4729G>A (p.Glu1577Lys) c.4864G>A (p.Glu1622Lys) c.4828G>A (p.Glu1610Lys) c.4954G>A (p.Glu1652Lys) c.4882G>A (p.Glu1628Lys) c.4870G>A (p.Glu1624Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157174G>A | CA518100829 | COL4A6 | c.4899C>T (p.Ile1633=) c.4902C>T (p.Ile1634=) c.4950C>T (p.Ile1650=) c.4728C>T (p.Ile1576=) c.4863C>T (p.Ile1621=) c.4827C>T (p.Ile1609=) c.4953C>T (p.Ile1651=) c.4881C>T (p.Ile1627=) c.4869C>T (p.Ile1623=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157174G>C | CA413848438 | COL4A6 | c.4899C>G (p.Ile1633Met) c.4902C>G (p.Ile1634Met) c.4950C>G (p.Ile1650Met) c.4728C>G (p.Ile1576Met) c.4863C>G (p.Ile1621Met) c.4827C>G (p.Ile1609Met) c.4953C>G (p.Ile1651Met) c.4881C>G (p.Ile1627Met) c.4869C>G (p.Ile1623Met) | ClinVar dbSNP |
| X | g.108157174G= | CA2450541980 | COL4A6 | c.4899C= (p.Ile1633=) c.4902C= (p.Ile1634=) c.4950C= (p.Ile1650=) c.4728C= (p.Ile1576=) c.4863C= (p.Ile1621=) c.4827C= (p.Ile1609=) c.4953C= (p.Ile1651=) c.4881C= (p.Ile1627=) c.4869C= (p.Ile1623=) | |
| X | g.108157174G>T | CA518100830 | COL4A6 | c.4899C>A (p.Ile1633=) c.4902C>A (p.Ile1634=) c.4950C>A (p.Ile1650=) c.4728C>A (p.Ile1576=) c.4863C>A (p.Ile1621=) c.4827C>A (p.Ile1609=) c.4953C>A (p.Ile1651=) c.4881C>A (p.Ile1627=) c.4869C>A (p.Ile1623=) | |
| X | g.108157175A>C | CA413848443 | COL4A6 | c.4898T>G (p.Ile1633Ser) c.4901T>G (p.Ile1634Ser) c.4949T>G (p.Ile1650Ser) c.4727T>G (p.Ile1576Ser) c.4862T>G (p.Ile1621Ser) c.4826T>G (p.Ile1609Ser) c.4952T>G (p.Ile1651Ser) c.4880T>G (p.Ile1627Ser) c.4868T>G (p.Ile1623Ser) | |
| X | g.108157175A>G | CA413848441 | COL4A6 | c.4898T>C (p.Ile1633Thr) c.4901T>C (p.Ile1634Thr) c.4949T>C (p.Ile1650Thr) c.4727T>C (p.Ile1576Thr) c.4862T>C (p.Ile1621Thr) c.4826T>C (p.Ile1609Thr) c.4952T>C (p.Ile1651Thr) c.4880T>C (p.Ile1627Thr) c.4868T>C (p.Ile1623Thr) | |
| X | g.108157175A>T | CA413848442 | COL4A6 | c.4898T>A (p.Ile1633Asn) c.4901T>A (p.Ile1634Asn) c.4949T>A (p.Ile1650Asn) c.4727T>A (p.Ile1576Asn) c.4862T>A (p.Ile1621Asn) c.4826T>A (p.Ile1609Asn) c.4952T>A (p.Ile1651Asn) c.4880T>A (p.Ile1627Asn) c.4868T>A (p.Ile1623Asn) |