SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108157198C>A | CA413848534 | COL4A6 | c.4875G>T (p.Glu1625Asp) c.4878G>T (p.Glu1626Asp) c.4926G>T (p.Glu1642Asp) c.4704G>T (p.Glu1568Asp) c.4839G>T (p.Glu1613Asp) c.4803G>T (p.Glu1601Asp) c.4929G>T (p.Glu1643Asp) c.4857G>T (p.Glu1619Asp) c.4845G>T (p.Glu1615Asp) | |
| X | g.108157198C>G | CA413848537 | COL4A6 | c.4875G>C (p.Glu1625Asp) c.4878G>C (p.Glu1626Asp) c.4926G>C (p.Glu1642Asp) c.4704G>C (p.Glu1568Asp) c.4839G>C (p.Glu1613Asp) c.4803G>C (p.Glu1601Asp) c.4929G>C (p.Glu1643Asp) c.4857G>C (p.Glu1619Asp) c.4845G>C (p.Glu1615Asp) | |
| X | g.108157198C>T | CA518100846 | COL4A6 | c.4875G>A (p.Glu1625=) c.4878G>A (p.Glu1626=) c.4926G>A (p.Glu1642=) c.4704G>A (p.Glu1568=) c.4839G>A (p.Glu1613=) c.4803G>A (p.Glu1601=) c.4929G>A (p.Glu1643=) c.4857G>A (p.Glu1619=) c.4845G>A (p.Glu1615=) | |
| X | g.108157199T>A | CA413848546 | COL4A6 | c.4874A>T (p.Glu1625Val) c.4877A>T (p.Glu1626Val) c.4925A>T (p.Glu1642Val) c.4703A>T (p.Glu1568Val) c.4838A>T (p.Glu1613Val) c.4802A>T (p.Glu1601Val) c.4928A>T (p.Glu1643Val) c.4856A>T (p.Glu1619Val) c.4844A>T (p.Glu1615Val) | |
| X | g.108157199T>C | CA413848544 | COL4A6 | c.4874A>G (p.Glu1625Gly) c.4877A>G (p.Glu1626Gly) c.4925A>G (p.Glu1642Gly) c.4703A>G (p.Glu1568Gly) c.4838A>G (p.Glu1613Gly) c.4802A>G (p.Glu1601Gly) c.4928A>G (p.Glu1643Gly) c.4856A>G (p.Glu1619Gly) c.4844A>G (p.Glu1615Gly) | |
| X | g.108157199T>G | CA413848542 | COL4A6 | c.4874A>C (p.Glu1625Ala) c.4877A>C (p.Glu1626Ala) c.4925A>C (p.Glu1642Ala) c.4703A>C (p.Glu1568Ala) c.4838A>C (p.Glu1613Ala) c.4802A>C (p.Glu1601Ala) c.4928A>C (p.Glu1643Ala) c.4856A>C (p.Glu1619Ala) c.4844A>C (p.Glu1615Ala) | |
| X | g.108157200C>A | CA413848549 | COL4A6 | c.4873G>T (p.Glu1625Ter) c.4876G>T (p.Glu1626Ter) c.4924G>T (p.Glu1642Ter) c.4702G>T (p.Glu1568Ter) c.4837G>T (p.Glu1613Ter) c.4801G>T (p.Glu1601Ter) c.4927G>T (p.Glu1643Ter) c.4855G>T (p.Glu1619Ter) c.4843G>T (p.Glu1615Ter) | |
| X | g.108157200C= | CA2450541989 | COL4A6 | c.4873G= (p.Glu1625=) c.4876G= (p.Glu1626=) c.4924G= (p.Glu1642=) c.4702G= (p.Glu1568=) c.4837G= (p.Glu1613=) c.4801G= (p.Glu1601=) c.4927G= (p.Glu1643=) c.4855G= (p.Glu1619=) c.4843G= (p.Glu1615=) | |
| X | g.108157200C>G | CA413848552 | COL4A6 | c.4873G>C (p.Glu1625Gln) c.4876G>C (p.Glu1626Gln) c.4924G>C (p.Glu1642Gln) c.4702G>C (p.Glu1568Gln) c.4837G>C (p.Glu1613Gln) c.4801G>C (p.Glu1601Gln) c.4927G>C (p.Glu1643Gln) c.4855G>C (p.Glu1619Gln) c.4843G>C (p.Glu1615Gln) | dbSNP |
| X | g.108157200C>T | CA413848551 | COL4A6 | c.4873G>A (p.Glu1625Lys) c.4876G>A (p.Glu1626Lys) c.4924G>A (p.Glu1642Lys) c.4702G>A (p.Glu1568Lys) c.4837G>A (p.Glu1613Lys) c.4801G>A (p.Glu1601Lys) c.4927G>A (p.Glu1643Lys) c.4855G>A (p.Glu1619Lys) c.4843G>A (p.Glu1615Lys) | |
| X | g.108157201T>A | CA518100847 | COL4A6 | c.4872A>T (p.Leu1624=) c.4875A>T (p.Leu1625=) c.4923A>T (p.Leu1641=) c.4701A>T (p.Leu1567=) c.4836A>T (p.Leu1612=) c.4800A>T (p.Leu1600=) c.4926A>T (p.Leu1642=) c.4854A>T (p.Leu1618=) c.4842A>T (p.Leu1614=) | |
| X | g.108157201T>C | CA518100848 | COL4A6 | c.4872A>G (p.Leu1624=) c.4875A>G (p.Leu1625=) c.4923A>G (p.Leu1641=) c.4701A>G (p.Leu1567=) c.4836A>G (p.Leu1612=) c.4800A>G (p.Leu1600=) c.4926A>G (p.Leu1642=) c.4854A>G (p.Leu1618=) c.4842A>G (p.Leu1614=) | |
| X | g.108157201T>G | CA518100849 | COL4A6 | c.4872A>C (p.Leu1624=) c.4875A>C (p.Leu1625=) c.4923A>C (p.Leu1641=) c.4701A>C (p.Leu1567=) c.4836A>C (p.Leu1612=) c.4800A>C (p.Leu1600=) c.4926A>C (p.Leu1642=) c.4854A>C (p.Leu1618=) c.4842A>C (p.Leu1614=) | |
| X | g.108157202A>C | CA413848557 | COL4A6 | c.4871T>G (p.Leu1624Arg) c.4874T>G (p.Leu1625Arg) c.4922T>G (p.Leu1641Arg) c.4700T>G (p.Leu1567Arg) c.4835T>G (p.Leu1612Arg) c.4799T>G (p.Leu1600Arg) c.4925T>G (p.Leu1642Arg) c.4853T>G (p.Leu1618Arg) c.4841T>G (p.Leu1614Arg) | |
| X | g.108157202A>G | CA413848560 | COL4A6 | c.4871T>C (p.Leu1624Pro) c.4874T>C (p.Leu1625Pro) c.4922T>C (p.Leu1641Pro) c.4700T>C (p.Leu1567Pro) c.4835T>C (p.Leu1612Pro) c.4799T>C (p.Leu1600Pro) c.4925T>C (p.Leu1642Pro) c.4853T>C (p.Leu1618Pro) c.4841T>C (p.Leu1614Pro) | |
| X | g.108157202A>T | CA413848562 | COL4A6 | c.4871T>A (p.Leu1624Gln) c.4874T>A (p.Leu1625Gln) c.4922T>A (p.Leu1641Gln) c.4700T>A (p.Leu1567Gln) c.4835T>A (p.Leu1612Gln) c.4799T>A (p.Leu1600Gln) c.4925T>A (p.Leu1642Gln) c.4853T>A (p.Leu1618Gln) c.4841T>A (p.Leu1614Gln) | |
| X | g.108157203G>A | CA518100850 | COL4A6 | c.4870C>T (p.Leu1624=) c.4873C>T (p.Leu1625=) c.4921C>T (p.Leu1641=) c.4699C>T (p.Leu1567=) c.4834C>T (p.Leu1612=) c.4798C>T (p.Leu1600=) c.4924C>T (p.Leu1642=) c.4852C>T (p.Leu1618=) c.4840C>T (p.Leu1614=) | |
| X | g.108157203G>C | CA413848565 | COL4A6 | c.4870C>G (p.Leu1624Val) c.4873C>G (p.Leu1625Val) c.4921C>G (p.Leu1641Val) c.4699C>G (p.Leu1567Val) c.4834C>G (p.Leu1612Val) c.4798C>G (p.Leu1600Val) c.4924C>G (p.Leu1642Val) c.4852C>G (p.Leu1618Val) c.4840C>G (p.Leu1614Val) | |
| X | g.108157203G>T | CA413848567 | COL4A6 | c.4870C>A (p.Leu1624Ile) c.4873C>A (p.Leu1625Ile) c.4921C>A (p.Leu1641Ile) c.4699C>A (p.Leu1567Ile) c.4834C>A (p.Leu1612Ile) c.4798C>A (p.Leu1600Ile) c.4924C>A (p.Leu1642Ile) c.4852C>A (p.Leu1618Ile) c.4840C>A (p.Leu1614Ile) | gnomAD v4 |
| X | g.108157204G>A | CA518100851 | COL4A6 | c.4869C>T (p.Cys1623=) c.4872C>T (p.Cys1624=) c.4920C>T (p.Cys1640=) c.4698C>T (p.Cys1566=) c.4833C>T (p.Cys1611=) c.4797C>T (p.Cys1599=) c.4923C>T (p.Cys1641=) c.4851C>T (p.Cys1617=) c.4839C>T (p.Cys1613=) | |
| X | g.108157204G>C | CA413848570 | COL4A6 | c.4869C>G (p.Cys1623Trp) c.4872C>G (p.Cys1624Trp) c.4920C>G (p.Cys1640Trp) c.4698C>G (p.Cys1566Trp) c.4833C>G (p.Cys1611Trp) c.4797C>G (p.Cys1599Trp) c.4923C>G (p.Cys1641Trp) c.4851C>G (p.Cys1617Trp) c.4839C>G (p.Cys1613Trp) | |
| X | g.108157204G>T | CA413848572 | COL4A6 | c.4869C>A (p.Cys1623Ter) c.4872C>A (p.Cys1624Ter) c.4920C>A (p.Cys1640Ter) c.4698C>A (p.Cys1566Ter) c.4833C>A (p.Cys1611Ter) c.4797C>A (p.Cys1599Ter) c.4923C>A (p.Cys1641Ter) c.4851C>A (p.Cys1617Ter) c.4839C>A (p.Cys1613Ter) | COSMIC COSMIC COSMIC |
| X | g.108157205C>A | CA413848575 | COL4A6 | c.4868G>T (p.Cys1623Phe) c.4871G>T (p.Cys1624Phe) c.4919G>T (p.Cys1640Phe) c.4697G>T (p.Cys1566Phe) c.4832G>T (p.Cys1611Phe) c.4796G>T (p.Cys1599Phe) c.4922G>T (p.Cys1641Phe) c.4850G>T (p.Cys1617Phe) c.4838G>T (p.Cys1613Phe) | |
| X | g.108157205C>G | CA413848578 | COL4A6 | c.4868G>C (p.Cys1623Ser) c.4871G>C (p.Cys1624Ser) c.4919G>C (p.Cys1640Ser) c.4697G>C (p.Cys1566Ser) c.4832G>C (p.Cys1611Ser) c.4796G>C (p.Cys1599Ser) c.4922G>C (p.Cys1641Ser) c.4850G>C (p.Cys1617Ser) c.4838G>C (p.Cys1613Ser) | gnomAD v4 |
| X | g.108157205C>T | CA413848580 | COL4A6 | c.4868G>A (p.Cys1623Tyr) c.4871G>A (p.Cys1624Tyr) c.4919G>A (p.Cys1640Tyr) c.4697G>A (p.Cys1566Tyr) c.4832G>A (p.Cys1611Tyr) c.4796G>A (p.Cys1599Tyr) c.4922G>A (p.Cys1641Tyr) c.4850G>A (p.Cys1617Tyr) c.4838G>A (p.Cys1613Tyr) | |
| X | g.108157206A>C | CA413848590 | COL4A6 | c.4867T>G (p.Cys1623Gly) c.4870T>G (p.Cys1624Gly) c.4918T>G (p.Cys1640Gly) c.4696T>G (p.Cys1566Gly) c.4831T>G (p.Cys1611Gly) c.4795T>G (p.Cys1599Gly) c.4921T>G (p.Cys1641Gly) c.4849T>G (p.Cys1617Gly) c.4837T>G (p.Cys1613Gly) | |
| X | g.108157206A>G | CA413848588 | COL4A6 | c.4867T>C (p.Cys1623Arg) c.4870T>C (p.Cys1624Arg) c.4918T>C (p.Cys1640Arg) c.4696T>C (p.Cys1566Arg) c.4831T>C (p.Cys1611Arg) c.4795T>C (p.Cys1599Arg) c.4921T>C (p.Cys1641Arg) c.4849T>C (p.Cys1617Arg) c.4837T>C (p.Cys1613Arg) | |
| X | g.108157206A>T | CA413848586 | COL4A6 | c.4867T>A (p.Cys1623Ser) c.4870T>A (p.Cys1624Ser) c.4918T>A (p.Cys1640Ser) c.4696T>A (p.Cys1566Ser) c.4831T>A (p.Cys1611Ser) c.4795T>A (p.Cys1599Ser) c.4921T>A (p.Cys1641Ser) c.4849T>A (p.Cys1617Ser) c.4837T>A (p.Cys1613Ser) | |
| X | g.108157207G>A | CA518100852 | COL4A6 | c.4866C>T (p.Ser1622=) c.4869C>T (p.Ser1623=) c.4917C>T (p.Ser1639=) c.4695C>T (p.Ser1565=) c.4830C>T (p.Ser1610=) c.4794C>T (p.Ser1598=) c.4920C>T (p.Ser1640=) c.4848C>T (p.Ser1616=) c.4836C>T (p.Ser1612=) | |
| X | g.108157207G>C | CA518100853 | COL4A6 | c.4866C>G (p.Ser1622=) c.4869C>G (p.Ser1623=) c.4917C>G (p.Ser1639=) c.4695C>G (p.Ser1565=) c.4830C>G (p.Ser1610=) c.4794C>G (p.Ser1598=) c.4920C>G (p.Ser1640=) c.4848C>G (p.Ser1616=) c.4836C>G (p.Ser1612=) | |
| X | g.108157207G>T | CA518100854 | COL4A6 | c.4866C>A (p.Ser1622=) c.4869C>A (p.Ser1623=) c.4917C>A (p.Ser1639=) c.4695C>A (p.Ser1565=) c.4830C>A (p.Ser1610=) c.4794C>A (p.Ser1598=) c.4920C>A (p.Ser1640=) c.4848C>A (p.Ser1616=) c.4836C>A (p.Ser1612=) | |
| X | g.108157208G>A | CA413848592 | COL4A6 | c.4865C>T (p.Ser1622Phe) c.4868C>T (p.Ser1623Phe) c.4916C>T (p.Ser1639Phe) c.4694C>T (p.Ser1565Phe) c.4829C>T (p.Ser1610Phe) c.4793C>T (p.Ser1598Phe) c.4919C>T (p.Ser1640Phe) c.4847C>T (p.Ser1616Phe) c.4835C>T (p.Ser1612Phe) | |
| X | g.108157208G>C | CA413848594 | COL4A6 | c.4865C>G (p.Ser1622Cys) c.4868C>G (p.Ser1623Cys) c.4916C>G (p.Ser1639Cys) c.4694C>G (p.Ser1565Cys) c.4829C>G (p.Ser1610Cys) c.4793C>G (p.Ser1598Cys) c.4919C>G (p.Ser1640Cys) c.4847C>G (p.Ser1616Cys) c.4835C>G (p.Ser1612Cys) | |
| X | g.108157208G>T | CA413848596 | COL4A6 | c.4865C>A (p.Ser1622Tyr) c.4868C>A (p.Ser1623Tyr) c.4916C>A (p.Ser1639Tyr) c.4694C>A (p.Ser1565Tyr) c.4829C>A (p.Ser1610Tyr) c.4793C>A (p.Ser1598Tyr) c.4919C>A (p.Ser1640Tyr) c.4847C>A (p.Ser1616Tyr) c.4835C>A (p.Ser1612Tyr) | |
| X | g.108157209A>C | CA413848600 | COL4A6 | c.4864T>G (p.Ser1622Ala) c.4867T>G (p.Ser1623Ala) c.4915T>G (p.Ser1639Ala) c.4693T>G (p.Ser1565Ala) c.4828T>G (p.Ser1610Ala) c.4792T>G (p.Ser1598Ala) c.4918T>G (p.Ser1640Ala) c.4846T>G (p.Ser1616Ala) c.4834T>G (p.Ser1612Ala) | |
| X | g.108157209A>G | CA413848603 | COL4A6 | c.4864T>C (p.Ser1622Pro) c.4867T>C (p.Ser1623Pro) c.4915T>C (p.Ser1639Pro) c.4693T>C (p.Ser1565Pro) c.4828T>C (p.Ser1610Pro) c.4792T>C (p.Ser1598Pro) c.4918T>C (p.Ser1640Pro) c.4846T>C (p.Ser1616Pro) c.4834T>C (p.Ser1612Pro) | |
| X | g.108157209A>T | CA413848605 | COL4A6 | c.4864T>A (p.Ser1622Thr) c.4867T>A (p.Ser1623Thr) c.4915T>A (p.Ser1639Thr) c.4693T>A (p.Ser1565Thr) c.4828T>A (p.Ser1610Thr) c.4792T>A (p.Ser1598Thr) c.4918T>A (p.Ser1640Thr) c.4846T>A (p.Ser1616Thr) c.4834T>A (p.Ser1612Thr) | |
| X | g.108157210G>A | CA518100855 | COL4A6 | c.4863C>T (p.Gly1621=) c.4866C>T (p.Gly1622=) c.4914C>T (p.Gly1638=) c.4692C>T (p.Gly1564=) c.4827C>T (p.Gly1609=) c.4791C>T (p.Gly1597=) c.4917C>T (p.Gly1639=) c.4845C>T (p.Gly1615=) c.4833C>T (p.Gly1611=) | gnomAD v4 |
| X | g.108157210G>C | CA518100857 | COL4A6 | c.4863C>G (p.Gly1621=) c.4866C>G (p.Gly1622=) c.4914C>G (p.Gly1638=) c.4692C>G (p.Gly1564=) c.4827C>G (p.Gly1609=) c.4791C>G (p.Gly1597=) c.4917C>G (p.Gly1639=) c.4845C>G (p.Gly1615=) c.4833C>G (p.Gly1611=) | |
| X | g.108157210G>T | CA518100856 | COL4A6 | c.4863C>A (p.Gly1621=) c.4866C>A (p.Gly1622=) c.4914C>A (p.Gly1638=) c.4692C>A (p.Gly1564=) c.4827C>A (p.Gly1609=) c.4791C>A (p.Gly1597=) c.4917C>A (p.Gly1639=) c.4845C>A (p.Gly1615=) c.4833C>A (p.Gly1611=) | |
| X | g.108157211C>A | CA413848608 | COL4A6 | c.4862G>T (p.Gly1621Val) c.4865G>T (p.Gly1622Val) c.4913G>T (p.Gly1638Val) c.4691G>T (p.Gly1564Val) c.4826G>T (p.Gly1609Val) c.4790G>T (p.Gly1597Val) c.4916G>T (p.Gly1639Val) c.4844G>T (p.Gly1615Val) c.4832G>T (p.Gly1611Val) | |
| X | g.108157211C>G | CA413848610 | COL4A6 | c.4862G>C (p.Gly1621Ala) c.4865G>C (p.Gly1622Ala) c.4913G>C (p.Gly1638Ala) c.4691G>C (p.Gly1564Ala) c.4826G>C (p.Gly1609Ala) c.4790G>C (p.Gly1597Ala) c.4916G>C (p.Gly1639Ala) c.4844G>C (p.Gly1615Ala) c.4832G>C (p.Gly1611Ala) | |
| X | g.108157211C>T | CA413848613 | COL4A6 | c.4862G>A (p.Gly1621Asp) c.4865G>A (p.Gly1622Asp) c.4913G>A (p.Gly1638Asp) c.4691G>A (p.Gly1564Asp) c.4826G>A (p.Gly1609Asp) c.4790G>A (p.Gly1597Asp) c.4916G>A (p.Gly1639Asp) c.4844G>A (p.Gly1615Asp) c.4832G>A (p.Gly1611Asp) | |
| X | g.108157212C>A | CA413848615 | COL4A6 | c.4861G>T (p.Gly1621Cys) c.4864G>T (p.Gly1622Cys) c.4912G>T (p.Gly1638Cys) c.4690G>T (p.Gly1564Cys) c.4825G>T (p.Gly1609Cys) c.4789G>T (p.Gly1597Cys) c.4915G>T (p.Gly1639Cys) c.4843G>T (p.Gly1615Cys) c.4831G>T (p.Gly1611Cys) | |
| X | g.108157212C>G | CA413848618 | COL4A6 | c.4861G>C (p.Gly1621Arg) c.4864G>C (p.Gly1622Arg) c.4912G>C (p.Gly1638Arg) c.4690G>C (p.Gly1564Arg) c.4825G>C (p.Gly1609Arg) c.4789G>C (p.Gly1597Arg) c.4915G>C (p.Gly1639Arg) c.4843G>C (p.Gly1615Arg) c.4831G>C (p.Gly1611Arg) | |
| X | g.108157212C>T | CA413848620 | COL4A6 | c.4861G>A (p.Gly1621Ser) c.4864G>A (p.Gly1622Ser) c.4912G>A (p.Gly1638Ser) c.4690G>A (p.Gly1564Ser) c.4825G>A (p.Gly1609Ser) c.4789G>A (p.Gly1597Ser) c.4915G>A (p.Gly1639Ser) c.4843G>A (p.Gly1615Ser) c.4831G>A (p.Gly1611Ser) | |
| X | g.108157213A>C | CA518100858 | COL4A6 | c.4860T>G (p.Pro1620=) c.4863T>G (p.Pro1621=) c.4911T>G (p.Pro1637=) c.4689T>G (p.Pro1563=) c.4824T>G (p.Pro1608=) c.4788T>G (p.Pro1596=) c.4914T>G (p.Pro1638=) c.4842T>G (p.Pro1614=) c.4830T>G (p.Pro1610=) | |
| X | g.108157213A>G | CA518100859 | COL4A6 | c.4860T>C (p.Pro1620=) c.4863T>C (p.Pro1621=) c.4911T>C (p.Pro1637=) c.4689T>C (p.Pro1563=) c.4824T>C (p.Pro1608=) c.4788T>C (p.Pro1596=) c.4914T>C (p.Pro1638=) c.4842T>C (p.Pro1614=) c.4830T>C (p.Pro1610=) | gnomAD v4 |
| X | g.108157213A>T | CA518100860 | COL4A6 | c.4860T>A (p.Pro1620=) c.4863T>A (p.Pro1621=) c.4911T>A (p.Pro1637=) c.4689T>A (p.Pro1563=) c.4824T>A (p.Pro1608=) c.4788T>A (p.Pro1596=) c.4914T>A (p.Pro1638=) c.4842T>A (p.Pro1614=) c.4830T>A (p.Pro1610=) | |
| X | g.108157214G>A | CA413848626 | COL4A6 | c.4859C>T (p.Pro1620Leu) c.4862C>T (p.Pro1621Leu) c.4910C>T (p.Pro1637Leu) c.4688C>T (p.Pro1563Leu) c.4823C>T (p.Pro1608Leu) c.4787C>T (p.Pro1596Leu) c.4913C>T (p.Pro1638Leu) c.4841C>T (p.Pro1614Leu) c.4829C>T (p.Pro1610Leu) | |
| X | g.108157214G>C | CA413848629 | COL4A6 | c.4859C>G (p.Pro1620Arg) c.4862C>G (p.Pro1621Arg) c.4910C>G (p.Pro1637Arg) c.4688C>G (p.Pro1563Arg) c.4823C>G (p.Pro1608Arg) c.4787C>G (p.Pro1596Arg) c.4913C>G (p.Pro1638Arg) c.4841C>G (p.Pro1614Arg) c.4829C>G (p.Pro1610Arg) | |
| X | g.108157214G>T | CA413848623 | COL4A6 | c.4859C>A (p.Pro1620His) c.4862C>A (p.Pro1621His) c.4910C>A (p.Pro1637His) c.4688C>A (p.Pro1563His) c.4823C>A (p.Pro1608His) c.4787C>A (p.Pro1596His) c.4913C>A (p.Pro1638His) c.4841C>A (p.Pro1614His) c.4829C>A (p.Pro1610His) | |
| X | g.108157215G>A | CA413848631 | COL4A6 | c.4858C>T (p.Pro1620Ser) c.4861C>T (p.Pro1621Ser) c.4909C>T (p.Pro1637Ser) c.4687C>T (p.Pro1563Ser) c.4822C>T (p.Pro1608Ser) c.4786C>T (p.Pro1596Ser) c.4912C>T (p.Pro1638Ser) c.4840C>T (p.Pro1614Ser) c.4828C>T (p.Pro1610Ser) | |
| X | g.108157215G>C | CA413848634 | COL4A6 | c.4858C>G (p.Pro1620Ala) c.4861C>G (p.Pro1621Ala) c.4909C>G (p.Pro1637Ala) c.4687C>G (p.Pro1563Ala) c.4822C>G (p.Pro1608Ala) c.4786C>G (p.Pro1596Ala) c.4912C>G (p.Pro1638Ala) c.4840C>G (p.Pro1614Ala) c.4828C>G (p.Pro1610Ala) | |
| X | g.108157215G>T | CA413848636 | COL4A6 | c.4858C>A (p.Pro1620Thr) c.4861C>A (p.Pro1621Thr) c.4909C>A (p.Pro1637Thr) c.4687C>A (p.Pro1563Thr) c.4822C>A (p.Pro1608Thr) c.4786C>A (p.Pro1596Thr) c.4912C>A (p.Pro1638Thr) c.4840C>A (p.Pro1614Thr) c.4828C>A (p.Pro1610Thr) | |
| X | g.108157216T>A | CA518100861 | COL4A6 | c.4857A>T (p.Ser1619=) c.4860A>T (p.Ser1620=) c.4908A>T (p.Ser1636=) c.4686A>T (p.Ser1562=) c.4821A>T (p.Ser1607=) c.4785A>T (p.Ser1595=) c.4911A>T (p.Ser1637=) c.4839A>T (p.Ser1613=) c.4827A>T (p.Ser1609=) | |
| X | g.108157216T>C | CA518100862 | COL4A6 | c.4857A>G (p.Ser1619=) c.4860A>G (p.Ser1620=) c.4908A>G (p.Ser1636=) c.4686A>G (p.Ser1562=) c.4821A>G (p.Ser1607=) c.4785A>G (p.Ser1595=) c.4911A>G (p.Ser1637=) c.4839A>G (p.Ser1613=) c.4827A>G (p.Ser1609=) | |
| X | g.108157216T>G | CA518100863 | COL4A6 | c.4857A>C (p.Ser1619=) c.4860A>C (p.Ser1620=) c.4908A>C (p.Ser1636=) c.4686A>C (p.Ser1562=) c.4821A>C (p.Ser1607=) c.4785A>C (p.Ser1595=) c.4911A>C (p.Ser1637=) c.4839A>C (p.Ser1613=) c.4827A>C (p.Ser1609=) | |
| X | g.108157217G>A | CA413848639 | COL4A6 | c.4856C>T (p.Ser1619Leu) c.4859C>T (p.Ser1620Leu) c.4907C>T (p.Ser1636Leu) c.4685C>T (p.Ser1562Leu) c.4820C>T (p.Ser1607Leu) c.4784C>T (p.Ser1595Leu) c.4910C>T (p.Ser1637Leu) c.4838C>T (p.Ser1613Leu) c.4826C>T (p.Ser1609Leu) | |
| X | g.108157217G>C | CA413848642 | COL4A6 | c.4856C>G (p.Ser1619Ter) c.4859C>G (p.Ser1620Ter) c.4907C>G (p.Ser1636Ter) c.4685C>G (p.Ser1562Ter) c.4820C>G (p.Ser1607Ter) c.4784C>G (p.Ser1595Ter) c.4910C>G (p.Ser1637Ter) c.4838C>G (p.Ser1613Ter) c.4826C>G (p.Ser1609Ter) | |
| X | g.108157217G>T | CA413848645 | COL4A6 | c.4856C>A (p.Ser1619Ter) c.4859C>A (p.Ser1620Ter) c.4907C>A (p.Ser1636Ter) c.4685C>A (p.Ser1562Ter) c.4820C>A (p.Ser1607Ter) c.4784C>A (p.Ser1595Ter) c.4910C>A (p.Ser1637Ter) c.4838C>A (p.Ser1613Ter) c.4826C>A (p.Ser1609Ter) | COSMIC COSMIC COSMIC |
| X | g.108157218A>C | CA413848648 | COL4A6 | c.4855T>G (p.Ser1619Ala) c.4858T>G (p.Ser1620Ala) c.4906T>G (p.Ser1636Ala) c.4684T>G (p.Ser1562Ala) c.4819T>G (p.Ser1607Ala) c.4783T>G (p.Ser1595Ala) c.4909T>G (p.Ser1637Ala) c.4837T>G (p.Ser1613Ala) c.4825T>G (p.Ser1609Ala) | |
| X | g.108157218A>G | CA413848651 | COL4A6 | c.4855T>C (p.Ser1619Pro) c.4858T>C (p.Ser1620Pro) c.4906T>C (p.Ser1636Pro) c.4684T>C (p.Ser1562Pro) c.4819T>C (p.Ser1607Pro) c.4783T>C (p.Ser1595Pro) c.4909T>C (p.Ser1637Pro) c.4837T>C (p.Ser1613Pro) c.4825T>C (p.Ser1609Pro) | |
| X | g.108157218A>T | CA413848654 | COL4A6 | c.4855T>A (p.Ser1619Thr) c.4858T>A (p.Ser1620Thr) c.4906T>A (p.Ser1636Thr) c.4684T>A (p.Ser1562Thr) c.4819T>A (p.Ser1607Thr) c.4783T>A (p.Ser1595Thr) c.4909T>A (p.Ser1637Thr) c.4837T>A (p.Ser1613Thr) c.4825T>A (p.Ser1609Thr) | |
| X | g.108157219G>A | CA518100864 | COL4A6 | c.4854C>T (p.Val1618=) c.4857C>T (p.Val1619=) c.4905C>T (p.Val1635=) c.4683C>T (p.Val1561=) c.4818C>T (p.Val1606=) c.4782C>T (p.Val1594=) c.4908C>T (p.Val1636=) c.4836C>T (p.Val1612=) c.4824C>T (p.Val1608=) | |
| X | g.108157219G>C | CA518100865 | COL4A6 | c.4854C>G (p.Val1618=) c.4857C>G (p.Val1619=) c.4905C>G (p.Val1635=) c.4683C>G (p.Val1561=) c.4818C>G (p.Val1606=) c.4782C>G (p.Val1594=) c.4908C>G (p.Val1636=) c.4836C>G (p.Val1612=) c.4824C>G (p.Val1608=) | |
| X | g.108157219G>T | CA518100866 | COL4A6 | c.4854C>A (p.Val1618=) c.4857C>A (p.Val1619=) c.4905C>A (p.Val1635=) c.4683C>A (p.Val1561=) c.4818C>A (p.Val1606=) c.4782C>A (p.Val1594=) c.4908C>A (p.Val1636=) c.4836C>A (p.Val1612=) c.4824C>A (p.Val1608=) | |
| X | g.108157220A>C | CA413848657 | COL4A6 | c.4853T>G (p.Val1618Gly) c.4856T>G (p.Val1619Gly) c.4904T>G (p.Val1635Gly) c.4682T>G (p.Val1561Gly) c.4817T>G (p.Val1606Gly) c.4781T>G (p.Val1594Gly) c.4907T>G (p.Val1636Gly) c.4835T>G (p.Val1612Gly) c.4823T>G (p.Val1608Gly) | |
| X | g.108157220A>G | CA413848660 | COL4A6 | c.4853T>C (p.Val1618Ala) c.4856T>C (p.Val1619Ala) c.4904T>C (p.Val1635Ala) c.4682T>C (p.Val1561Ala) c.4817T>C (p.Val1606Ala) c.4781T>C (p.Val1594Ala) c.4907T>C (p.Val1636Ala) c.4835T>C (p.Val1612Ala) c.4823T>C (p.Val1608Ala) | |
| X | g.108157220A>T | CA413848663 | COL4A6 | c.4853T>A (p.Val1618Asp) c.4856T>A (p.Val1619Asp) c.4904T>A (p.Val1635Asp) c.4682T>A (p.Val1561Asp) c.4817T>A (p.Val1606Asp) c.4781T>A (p.Val1594Asp) c.4907T>A (p.Val1636Asp) c.4835T>A (p.Val1612Asp) c.4823T>A (p.Val1608Asp) | |
| X | g.108157221C>A | CA413848669 | COL4A6 | c.4852G>T (p.Val1618Phe) c.4855G>T (p.Val1619Phe) c.4903G>T (p.Val1635Phe) c.4681G>T (p.Val1561Phe) c.4816G>T (p.Val1606Phe) c.4780G>T (p.Val1594Phe) c.4906G>T (p.Val1636Phe) c.4834G>T (p.Val1612Phe) c.4822G>T (p.Val1608Phe) | |
| X | g.108157221C>G | CA413848672 | COL4A6 | c.4852G>C (p.Val1618Leu) c.4855G>C (p.Val1619Leu) c.4903G>C (p.Val1635Leu) c.4681G>C (p.Val1561Leu) c.4816G>C (p.Val1606Leu) c.4780G>C (p.Val1594Leu) c.4906G>C (p.Val1636Leu) c.4834G>C (p.Val1612Leu) c.4822G>C (p.Val1608Leu) | |
| X | g.108157221C>T | CA413848667 | COL4A6 | c.4852G>A (p.Val1618Ile) c.4855G>A (p.Val1619Ile) c.4903G>A (p.Val1635Ile) c.4681G>A (p.Val1561Ile) c.4816G>A (p.Val1606Ile) c.4780G>A (p.Val1594Ile) c.4906G>A (p.Val1636Ile) c.4834G>A (p.Val1612Ile) c.4822G>A (p.Val1608Ile) | gnomAD v4 |
| X | g.108157222C>A | CA518100867 | COL4A6 | c.4851G>T (p.Leu1617=) c.4854G>T (p.Leu1618=) c.4902G>T (p.Leu1634=) c.4680G>T (p.Leu1560=) c.4815G>T (p.Leu1605=) c.4779G>T (p.Leu1593=) c.4905G>T (p.Leu1635=) c.4833G>T (p.Leu1611=) c.4821G>T (p.Leu1607=) | dbSNP gnomAD v2 |
| X | g.108157222C= | CA2450541990 | COL4A6 | c.4851G= (p.Leu1617=) c.4854G= (p.Leu1618=) c.4902G= (p.Leu1634=) c.4680G= (p.Leu1560=) c.4815G= (p.Leu1605=) c.4779G= (p.Leu1593=) c.4905G= (p.Leu1635=) c.4833G= (p.Leu1611=) c.4821G= (p.Leu1607=) | |
| X | g.108157222C>G | CA518100868 | COL4A6 | c.4851G>C (p.Leu1617=) c.4854G>C (p.Leu1618=) c.4902G>C (p.Leu1634=) c.4680G>C (p.Leu1560=) c.4815G>C (p.Leu1605=) c.4779G>C (p.Leu1593=) c.4905G>C (p.Leu1635=) c.4833G>C (p.Leu1611=) c.4821G>C (p.Leu1607=) | |
| X | g.108157222C>T | CA518100869 | COL4A6 | c.4851G>A (p.Leu1617=) c.4854G>A (p.Leu1618=) c.4902G>A (p.Leu1634=) c.4680G>A (p.Leu1560=) c.4815G>A (p.Leu1605=) c.4779G>A (p.Leu1593=) c.4905G>A (p.Leu1635=) c.4833G>A (p.Leu1611=) c.4821G>A (p.Leu1607=) | dbSNP gnomAD v4 |
| X | g.108157223A>C | CA413848675 | COL4A6 | c.4850T>G (p.Leu1617Arg) c.4853T>G (p.Leu1618Arg) c.4901T>G (p.Leu1634Arg) c.4679T>G (p.Leu1560Arg) c.4814T>G (p.Leu1605Arg) c.4778T>G (p.Leu1593Arg) c.4904T>G (p.Leu1635Arg) c.4832T>G (p.Leu1611Arg) c.4820T>G (p.Leu1607Arg) | |
| X | g.108157223A>G | CA413848678 | COL4A6 | c.4850T>C (p.Leu1617Pro) c.4853T>C (p.Leu1618Pro) c.4901T>C (p.Leu1634Pro) c.4679T>C (p.Leu1560Pro) c.4814T>C (p.Leu1605Pro) c.4778T>C (p.Leu1593Pro) c.4904T>C (p.Leu1635Pro) c.4832T>C (p.Leu1611Pro) c.4820T>C (p.Leu1607Pro) | |
| X | g.108157223A>T | CA413848681 | COL4A6 | c.4850T>A (p.Leu1617Gln) c.4853T>A (p.Leu1618Gln) c.4901T>A (p.Leu1634Gln) c.4679T>A (p.Leu1560Gln) c.4814T>A (p.Leu1605Gln) c.4778T>A (p.Leu1593Gln) c.4904T>A (p.Leu1635Gln) c.4832T>A (p.Leu1611Gln) c.4820T>A (p.Leu1607Gln) | |
| X | g.108157224G>A | CA518100870 | COL4A6 | c.4849C>T (p.Leu1617=) c.4852C>T (p.Leu1618=) c.4900C>T (p.Leu1634=) c.4678C>T (p.Leu1560=) c.4813C>T (p.Leu1605=) c.4777C>T (p.Leu1593=) c.4903C>T (p.Leu1635=) c.4831C>T (p.Leu1611=) c.4819C>T (p.Leu1607=) | |
| X | g.108157224G>C | CA413848685 | COL4A6 | c.4849C>G (p.Leu1617Val) c.4852C>G (p.Leu1618Val) c.4900C>G (p.Leu1634Val) c.4678C>G (p.Leu1560Val) c.4813C>G (p.Leu1605Val) c.4777C>G (p.Leu1593Val) c.4903C>G (p.Leu1635Val) c.4831C>G (p.Leu1611Val) c.4819C>G (p.Leu1607Val) | |
| X | g.108157224G>T | CA413848688 | COL4A6 | c.4849C>A (p.Leu1617Met) c.4852C>A (p.Leu1618Met) c.4900C>A (p.Leu1634Met) c.4678C>A (p.Leu1560Met) c.4813C>A (p.Leu1605Met) c.4777C>A (p.Leu1593Met) c.4903C>A (p.Leu1635Met) c.4831C>A (p.Leu1611Met) c.4819C>A (p.Leu1607Met) | COSMIC COSMIC COSMIC |
| X | g.108157225G>A | CA518100871 | COL4A6 | c.4848C>T (p.Ser1616=) c.4851C>T (p.Ser1617=) c.4899C>T (p.Ser1633=) c.4677C>T (p.Ser1559=) c.4812C>T (p.Ser1604=) c.4776C>T (p.Ser1592=) c.4902C>T (p.Ser1634=) c.4830C>T (p.Ser1610=) c.4818C>T (p.Ser1606=) | |
| X | g.108157225G>C | CA518100872 | COL4A6 | c.4848C>G (p.Ser1616=) c.4851C>G (p.Ser1617=) c.4899C>G (p.Ser1633=) c.4677C>G (p.Ser1559=) c.4812C>G (p.Ser1604=) c.4776C>G (p.Ser1592=) c.4902C>G (p.Ser1634=) c.4830C>G (p.Ser1610=) c.4818C>G (p.Ser1606=) | |
| X | g.108157225G>T | CA518100873 | COL4A6 | c.4848C>A (p.Ser1616=) c.4851C>A (p.Ser1617=) c.4899C>A (p.Ser1633=) c.4677C>A (p.Ser1559=) c.4812C>A (p.Ser1604=) c.4776C>A (p.Ser1592=) c.4902C>A (p.Ser1634=) c.4830C>A (p.Ser1610=) c.4818C>A (p.Ser1606=) | |
| X | g.108157226G>A | CA413848694 | COL4A6 | c.4847C>T (p.Ser1616Phe) c.4850C>T (p.Ser1617Phe) c.4898C>T (p.Ser1633Phe) c.4676C>T (p.Ser1559Phe) c.4811C>T (p.Ser1604Phe) c.4775C>T (p.Ser1592Phe) c.4901C>T (p.Ser1634Phe) c.4829C>T (p.Ser1610Phe) c.4817C>T (p.Ser1606Phe) | dbSNP |
| X | g.108157226G>C | CA413848691 | COL4A6 | c.4847C>G (p.Ser1616Cys) c.4850C>G (p.Ser1617Cys) c.4898C>G (p.Ser1633Cys) c.4676C>G (p.Ser1559Cys) c.4811C>G (p.Ser1604Cys) c.4775C>G (p.Ser1592Cys) c.4901C>G (p.Ser1634Cys) c.4829C>G (p.Ser1610Cys) c.4817C>G (p.Ser1606Cys) | |
| X | g.108157226G= | CA2450541991 | COL4A6 | c.4847C= (p.Ser1616=) c.4850C= (p.Ser1617=) c.4898C= (p.Ser1633=) c.4676C= (p.Ser1559=) c.4811C= (p.Ser1604=) c.4775C= (p.Ser1592=) c.4901C= (p.Ser1634=) c.4829C= (p.Ser1610=) c.4817C= (p.Ser1606=) | |
| X | g.108157226G>T | CA10487099 | COL4A6 | c.4847C>A (p.Ser1616Tyr) c.4850C>A (p.Ser1617Tyr) c.4898C>A (p.Ser1633Tyr) c.4676C>A (p.Ser1559Tyr) c.4811C>A (p.Ser1604Tyr) c.4775C>A (p.Ser1592Tyr) c.4901C>A (p.Ser1634Tyr) c.4829C>A (p.Ser1610Tyr) c.4817C>A (p.Ser1606Tyr) | dbSNP ExAC |
| X | g.108157227A>C | CA413848696 | COL4A6 | c.4846T>G (p.Ser1616Ala) c.4849T>G (p.Ser1617Ala) c.4897T>G (p.Ser1633Ala) c.4675T>G (p.Ser1559Ala) c.4810T>G (p.Ser1604Ala) c.4774T>G (p.Ser1592Ala) c.4900T>G (p.Ser1634Ala) c.4828T>G (p.Ser1610Ala) c.4816T>G (p.Ser1606Ala) | |
| X | g.108157227A>G | CA413848698 | COL4A6 | c.4846T>C (p.Ser1616Pro) c.4849T>C (p.Ser1617Pro) c.4897T>C (p.Ser1633Pro) c.4675T>C (p.Ser1559Pro) c.4810T>C (p.Ser1604Pro) c.4774T>C (p.Ser1592Pro) c.4900T>C (p.Ser1634Pro) c.4828T>C (p.Ser1610Pro) c.4816T>C (p.Ser1606Pro) | |
| X | g.108157227A>T | CA413848701 | COL4A6 | c.4846T>A (p.Ser1616Thr) c.4849T>A (p.Ser1617Thr) c.4897T>A (p.Ser1633Thr) c.4675T>A (p.Ser1559Thr) c.4810T>A (p.Ser1604Thr) c.4774T>A (p.Ser1592Thr) c.4900T>A (p.Ser1634Thr) c.4828T>A (p.Ser1610Thr) c.4816T>A (p.Ser1606Thr) | |
| X | g.108157228C>A | CA413848707 | COL4A6 | c.4845G>T (p.Gln1615His) c.4848G>T (p.Gln1616His) c.4896G>T (p.Gln1632His) c.4674G>T (p.Gln1558His) c.4809G>T (p.Gln1603His) c.4773G>T (p.Gln1591His) c.4899G>T (p.Gln1633His) c.4827G>T (p.Gln1609His) c.4815G>T (p.Gln1605His) | |
| X | g.108157228C>G | CA413848720 | COL4A6 | c.4845G>C (p.Gln1615His) c.4848G>C (p.Gln1616His) c.4896G>C (p.Gln1632His) c.4674G>C (p.Gln1558His) c.4809G>C (p.Gln1603His) c.4773G>C (p.Gln1591His) c.4899G>C (p.Gln1633His) c.4827G>C (p.Gln1609His) c.4815G>C (p.Gln1605His) | |
| X | g.108157228C>T | CA518100874 | COL4A6 | c.4845G>A (p.Gln1615=) c.4848G>A (p.Gln1616=) c.4896G>A (p.Gln1632=) c.4674G>A (p.Gln1558=) c.4809G>A (p.Gln1603=) c.4773G>A (p.Gln1591=) c.4899G>A (p.Gln1633=) c.4827G>A (p.Gln1609=) c.4815G>A (p.Gln1605=) | |
| X | g.108157229T>A | CA413848724 | COL4A6 | c.4844A>T (p.Gln1615Leu) c.4847A>T (p.Gln1616Leu) c.4895A>T (p.Gln1632Leu) c.4673A>T (p.Gln1558Leu) c.4808A>T (p.Gln1603Leu) c.4772A>T (p.Gln1591Leu) c.4898A>T (p.Gln1633Leu) c.4826A>T (p.Gln1609Leu) c.4814A>T (p.Gln1605Leu) | |
| X | g.108157229T>C | CA413848728 | COL4A6 | c.4844A>G (p.Gln1615Arg) c.4847A>G (p.Gln1616Arg) c.4895A>G (p.Gln1632Arg) c.4673A>G (p.Gln1558Arg) c.4808A>G (p.Gln1603Arg) c.4772A>G (p.Gln1591Arg) c.4898A>G (p.Gln1633Arg) c.4826A>G (p.Gln1609Arg) c.4814A>G (p.Gln1605Arg) | |
| X | g.108157229T>G | CA413848726 | COL4A6 | c.4844A>C (p.Gln1615Pro) c.4847A>C (p.Gln1616Pro) c.4895A>C (p.Gln1632Pro) c.4673A>C (p.Gln1558Pro) c.4808A>C (p.Gln1603Pro) c.4772A>C (p.Gln1591Pro) c.4898A>C (p.Gln1633Pro) c.4826A>C (p.Gln1609Pro) c.4814A>C (p.Gln1605Pro) | gnomAD v4 |
| X | g.108157230G>A | CA413848732 | COL4A6 | c.4843C>T (p.Gln1615Ter) c.4846C>T (p.Gln1616Ter) c.4894C>T (p.Gln1632Ter) c.4672C>T (p.Gln1558Ter) c.4807C>T (p.Gln1603Ter) c.4771C>T (p.Gln1591Ter) c.4897C>T (p.Gln1633Ter) c.4825C>T (p.Gln1609Ter) c.4813C>T (p.Gln1605Ter) | |
| X | g.108157230G>C | CA413848737 | COL4A6 | c.4843C>G (p.Gln1615Glu) c.4846C>G (p.Gln1616Glu) c.4894C>G (p.Gln1632Glu) c.4672C>G (p.Gln1558Glu) c.4807C>G (p.Gln1603Glu) c.4771C>G (p.Gln1591Glu) c.4897C>G (p.Gln1633Glu) c.4825C>G (p.Gln1609Glu) c.4813C>G (p.Gln1605Glu) | |
| X | g.108157230G>T | CA413848735 | COL4A6 | c.4843C>A (p.Gln1615Lys) c.4846C>A (p.Gln1616Lys) c.4894C>A (p.Gln1632Lys) c.4672C>A (p.Gln1558Lys) c.4807C>A (p.Gln1603Lys) c.4771C>A (p.Gln1591Lys) c.4897C>A (p.Gln1633Lys) c.4825C>A (p.Gln1609Lys) c.4813C>A (p.Gln1605Lys) | |
| X | g.108157231G>A | CA518100876 | COL4A6 | c.4842C>T (p.Gly1614=) c.4845C>T (p.Gly1615=) c.4893C>T (p.Gly1631=) c.4671C>T (p.Gly1557=) c.4806C>T (p.Gly1602=) c.4770C>T (p.Gly1590=) c.4896C>T (p.Gly1632=) c.4824C>T (p.Gly1608=) c.4812C>T (p.Gly1604=) | |
| X | g.108157231G>C | CA518100877 | COL4A6 | c.4842C>G (p.Gly1614=) c.4845C>G (p.Gly1615=) c.4893C>G (p.Gly1631=) c.4671C>G (p.Gly1557=) c.4806C>G (p.Gly1602=) c.4770C>G (p.Gly1590=) c.4896C>G (p.Gly1632=) c.4824C>G (p.Gly1608=) c.4812C>G (p.Gly1604=) | |
| X | g.108157231G>T | CA518100875 | COL4A6 | c.4842C>A (p.Gly1614=) c.4845C>A (p.Gly1615=) c.4893C>A (p.Gly1631=) c.4671C>A (p.Gly1557=) c.4806C>A (p.Gly1602=) c.4770C>A (p.Gly1590=) c.4896C>A (p.Gly1632=) c.4824C>A (p.Gly1608=) c.4812C>A (p.Gly1604=) | |
| X | g.108157232C>A | CA413848740 | COL4A6 | c.4841G>T (p.Gly1614Val) c.4844G>T (p.Gly1615Val) c.4892G>T (p.Gly1631Val) c.4670G>T (p.Gly1557Val) c.4805G>T (p.Gly1602Val) c.4769G>T (p.Gly1590Val) c.4895G>T (p.Gly1632Val) c.4823G>T (p.Gly1608Val) c.4811G>T (p.Gly1604Val) | |
| X | g.108157232C= | CA2450541992 | COL4A6 | c.4841G= (p.Gly1614=) c.4844G= (p.Gly1615=) c.4892G= (p.Gly1631=) c.4670G= (p.Gly1557=) c.4805G= (p.Gly1602=) c.4769G= (p.Gly1590=) c.4895G= (p.Gly1632=) c.4823G= (p.Gly1608=) c.4811G= (p.Gly1604=) | |
| X | g.108157232C>G | CA413848744 | COL4A6 | c.4841G>C (p.Gly1614Ala) c.4844G>C (p.Gly1615Ala) c.4892G>C (p.Gly1631Ala) c.4670G>C (p.Gly1557Ala) c.4805G>C (p.Gly1602Ala) c.4769G>C (p.Gly1590Ala) c.4895G>C (p.Gly1632Ala) c.4823G>C (p.Gly1608Ala) c.4811G>C (p.Gly1604Ala) | |
| X | g.108157232C>T | CA10487100 | COL4A6 | c.4841G>A (p.Gly1614Asp) c.4844G>A (p.Gly1615Asp) c.4892G>A (p.Gly1631Asp) c.4670G>A (p.Gly1557Asp) c.4805G>A (p.Gly1602Asp) c.4769G>A (p.Gly1590Asp) c.4895G>A (p.Gly1632Asp) c.4823G>A (p.Gly1608Asp) c.4811G>A (p.Gly1604Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157233C>A | CA413848747 | COL4A6 | c.4840G>T (p.Gly1614Cys) c.4843G>T (p.Gly1615Cys) c.4891G>T (p.Gly1631Cys) c.4669G>T (p.Gly1557Cys) c.4804G>T (p.Gly1602Cys) c.4768G>T (p.Gly1590Cys) c.4894G>T (p.Gly1632Cys) c.4822G>T (p.Gly1608Cys) c.4810G>T (p.Gly1604Cys) | |
| X | g.108157233C>G | CA413848752 | COL4A6 | c.4840G>C (p.Gly1614Arg) c.4843G>C (p.Gly1615Arg) c.4891G>C (p.Gly1631Arg) c.4669G>C (p.Gly1557Arg) c.4804G>C (p.Gly1602Arg) c.4768G>C (p.Gly1590Arg) c.4894G>C (p.Gly1632Arg) c.4822G>C (p.Gly1608Arg) c.4810G>C (p.Gly1604Arg) | |
| X | g.108157233C>T | CA413848749 | COL4A6 | c.4840G>A (p.Gly1614Ser) c.4843G>A (p.Gly1615Ser) c.4891G>A (p.Gly1631Ser) c.4669G>A (p.Gly1557Ser) c.4804G>A (p.Gly1602Ser) c.4768G>A (p.Gly1590Ser) c.4894G>A (p.Gly1632Ser) c.4822G>A (p.Gly1608Ser) c.4810G>A (p.Gly1604Ser) | |
| X | g.108157234T>A | CA518100880 | COL4A6 | c.4839A>T (p.Gly1613=) c.4842A>T (p.Gly1614=) c.4890A>T (p.Gly1630=) c.4668A>T (p.Gly1556=) c.4803A>T (p.Gly1601=) c.4767A>T (p.Gly1589=) c.4893A>T (p.Gly1631=) c.4821A>T (p.Gly1607=) c.4809A>T (p.Gly1603=) | |
| X | g.108157234T>C | CA518100879 | COL4A6 | c.4839A>G (p.Gly1613=) c.4842A>G (p.Gly1614=) c.4890A>G (p.Gly1630=) c.4668A>G (p.Gly1556=) c.4803A>G (p.Gly1601=) c.4767A>G (p.Gly1589=) c.4893A>G (p.Gly1631=) c.4821A>G (p.Gly1607=) c.4809A>G (p.Gly1603=) | |
| X | g.108157234T>G | CA518100878 | COL4A6 | c.4839A>C (p.Gly1613=) c.4842A>C (p.Gly1614=) c.4890A>C (p.Gly1630=) c.4668A>C (p.Gly1556=) c.4803A>C (p.Gly1601=) c.4767A>C (p.Gly1589=) c.4893A>C (p.Gly1631=) c.4821A>C (p.Gly1607=) c.4809A>C (p.Gly1603=) | |
| X | g.108157235C>A | CA413848754 | COL4A6 | c.4838G>T (p.Gly1613Val) c.4841G>T (p.Gly1614Val) c.4889G>T (p.Gly1630Val) c.4667G>T (p.Gly1556Val) c.4802G>T (p.Gly1601Val) c.4766G>T (p.Gly1589Val) c.4892G>T (p.Gly1631Val) c.4820G>T (p.Gly1607Val) c.4808G>T (p.Gly1603Val) | |
| X | g.108157235C>G | CA413848757 | COL4A6 | c.4838G>C (p.Gly1613Ala) c.4841G>C (p.Gly1614Ala) c.4889G>C (p.Gly1630Ala) c.4667G>C (p.Gly1556Ala) c.4802G>C (p.Gly1601Ala) c.4766G>C (p.Gly1589Ala) c.4892G>C (p.Gly1631Ala) c.4820G>C (p.Gly1607Ala) c.4808G>C (p.Gly1603Ala) | |
| X | g.108157235C>T | CA413848760 | COL4A6 | c.4838G>A (p.Gly1613Glu) c.4841G>A (p.Gly1614Glu) c.4889G>A (p.Gly1630Glu) c.4667G>A (p.Gly1556Glu) c.4802G>A (p.Gly1601Glu) c.4766G>A (p.Gly1589Glu) c.4892G>A (p.Gly1631Glu) c.4820G>A (p.Gly1607Glu) c.4808G>A (p.Gly1603Glu) | |
| X | g.108157236C>A | CA413848765 | COL4A6 | c.4837G>T (p.Gly1613Ter) c.4840G>T (p.Gly1614Ter) c.4888G>T (p.Gly1630Ter) c.4666G>T (p.Gly1556Ter) c.4801G>T (p.Gly1601Ter) c.4765G>T (p.Gly1589Ter) c.4891G>T (p.Gly1631Ter) c.4819G>T (p.Gly1607Ter) c.4807G>T (p.Gly1603Ter) | |
| X | g.108157236C>G | CA413848768 | COL4A6 | c.4837G>C (p.Gly1613Arg) c.4840G>C (p.Gly1614Arg) c.4888G>C (p.Gly1630Arg) c.4666G>C (p.Gly1556Arg) c.4801G>C (p.Gly1601Arg) c.4765G>C (p.Gly1589Arg) c.4891G>C (p.Gly1631Arg) c.4819G>C (p.Gly1607Arg) c.4807G>C (p.Gly1603Arg) | |
| X | g.108157236C>T | CA413848770 | COL4A6 | c.4837G>A (p.Gly1613Arg) c.4840G>A (p.Gly1614Arg) c.4888G>A (p.Gly1630Arg) c.4666G>A (p.Gly1556Arg) c.4801G>A (p.Gly1601Arg) c.4765G>A (p.Gly1589Arg) c.4891G>A (p.Gly1631Arg) c.4819G>A (p.Gly1607Arg) c.4807G>A (p.Gly1603Arg) | |
| X | g.108157237A= | CA2450541993 | COL4A6 | c.4836T= (p.Gly1612=) c.4839T= (p.Gly1613=) c.4887T= (p.Gly1629=) c.4665T= (p.Gly1555=) c.4800T= (p.Gly1600=) c.4764T= (p.Gly1588=) c.4890T= (p.Gly1630=) c.4818T= (p.Gly1606=) c.4806T= (p.Gly1602=) | |
| X | g.108157237A>C | CA518100881 | COL4A6 | c.4836T>G (p.Gly1612=) c.4839T>G (p.Gly1613=) c.4887T>G (p.Gly1629=) c.4665T>G (p.Gly1555=) c.4800T>G (p.Gly1600=) c.4764T>G (p.Gly1588=) c.4890T>G (p.Gly1630=) c.4818T>G (p.Gly1606=) c.4806T>G (p.Gly1602=) | |
| X | g.108157237A>G | CA518100882 | COL4A6 | c.4836T>C (p.Gly1612=) c.4839T>C (p.Gly1613=) c.4887T>C (p.Gly1629=) c.4665T>C (p.Gly1555=) c.4800T>C (p.Gly1600=) c.4764T>C (p.Gly1588=) c.4890T>C (p.Gly1630=) c.4818T>C (p.Gly1606=) c.4806T>C (p.Gly1602=) | |
| X | g.108157237A>T | CA334033956 | COL4A6 | c.4836T>A (p.Gly1612=) c.4839T>A (p.Gly1613=) c.4887T>A (p.Gly1629=) c.4665T>A (p.Gly1555=) c.4800T>A (p.Gly1600=) c.4764T>A (p.Gly1588=) c.4890T>A (p.Gly1630=) c.4818T>A (p.Gly1606=) c.4806T>A (p.Gly1602=) | dbSNP |
| X | g.108157238C>A | CA413848773 | COL4A6 | c.4835G>T (p.Gly1612Val) c.4838G>T (p.Gly1613Val) c.4886G>T (p.Gly1629Val) c.4664G>T (p.Gly1555Val) c.4799G>T (p.Gly1600Val) c.4763G>T (p.Gly1588Val) c.4889G>T (p.Gly1630Val) c.4817G>T (p.Gly1606Val) c.4805G>T (p.Gly1602Val) | gnomAD v4 |
| X | g.108157238C>G | CA413848776 | COL4A6 | c.4835G>C (p.Gly1612Ala) c.4838G>C (p.Gly1613Ala) c.4886G>C (p.Gly1629Ala) c.4664G>C (p.Gly1555Ala) c.4799G>C (p.Gly1600Ala) c.4763G>C (p.Gly1588Ala) c.4889G>C (p.Gly1630Ala) c.4817G>C (p.Gly1606Ala) c.4805G>C (p.Gly1602Ala) | |
| X | g.108157238C>T | CA413848779 | COL4A6 | c.4835G>A (p.Gly1612Asp) c.4838G>A (p.Gly1613Asp) c.4886G>A (p.Gly1629Asp) c.4664G>A (p.Gly1555Asp) c.4799G>A (p.Gly1600Asp) c.4763G>A (p.Gly1588Asp) c.4889G>A (p.Gly1630Asp) c.4817G>A (p.Gly1606Asp) c.4805G>A (p.Gly1602Asp) | |
| X | g.108157239C>A | CA413848782 | COL4A6 | c.4834G>T (p.Gly1612Cys) c.4837G>T (p.Gly1613Cys) c.4885G>T (p.Gly1629Cys) c.4663G>T (p.Gly1555Cys) c.4798G>T (p.Gly1600Cys) c.4762G>T (p.Gly1588Cys) c.4888G>T (p.Gly1630Cys) c.4816G>T (p.Gly1606Cys) c.4804G>T (p.Gly1602Cys) | |
| X | g.108157239C>G | CA413848784 | COL4A6 | c.4834G>C (p.Gly1612Arg) c.4837G>C (p.Gly1613Arg) c.4885G>C (p.Gly1629Arg) c.4663G>C (p.Gly1555Arg) c.4798G>C (p.Gly1600Arg) c.4762G>C (p.Gly1588Arg) c.4888G>C (p.Gly1630Arg) c.4816G>C (p.Gly1606Arg) c.4804G>C (p.Gly1602Arg) | |
| X | g.108157239C>T | CA413848788 | COL4A6 | c.4834G>A (p.Gly1612Ser) c.4837G>A (p.Gly1613Ser) c.4885G>A (p.Gly1629Ser) c.4663G>A (p.Gly1555Ser) c.4798G>A (p.Gly1600Ser) c.4762G>A (p.Gly1588Ser) c.4888G>A (p.Gly1630Ser) c.4816G>A (p.Gly1606Ser) c.4804G>A (p.Gly1602Ser) | |
| X | g.108157240C>A | CA413848791 | COL4A6 | c.4833G>T (p.Glu1611Asp) c.4836G>T (p.Glu1612Asp) c.4884G>T (p.Glu1628Asp) c.4662G>T (p.Glu1554Asp) c.4797G>T (p.Glu1599Asp) c.4761G>T (p.Glu1587Asp) c.4887G>T (p.Glu1629Asp) c.4815G>T (p.Glu1605Asp) c.4803G>T (p.Glu1601Asp) | |
| X | g.108157240C= | CA2450541994 | COL4A6 | c.4833G= (p.Glu1611=) c.4836G= (p.Glu1612=) c.4884G= (p.Glu1628=) c.4662G= (p.Glu1554=) c.4797G= (p.Glu1599=) c.4761G= (p.Glu1587=) c.4887G= (p.Glu1629=) c.4815G= (p.Glu1605=) c.4803G= (p.Glu1601=) | |
| X | g.108157240C>G | CA413848794 | COL4A6 | c.4833G>C (p.Glu1611Asp) c.4836G>C (p.Glu1612Asp) c.4884G>C (p.Glu1628Asp) c.4662G>C (p.Glu1554Asp) c.4797G>C (p.Glu1599Asp) c.4761G>C (p.Glu1587Asp) c.4887G>C (p.Glu1629Asp) c.4815G>C (p.Glu1605Asp) c.4803G>C (p.Glu1601Asp) | dbSNP |
| X | g.108157240C>T | CA518100883 | COL4A6 | c.4833G>A (p.Glu1611=) c.4836G>A (p.Glu1612=) c.4884G>A (p.Glu1628=) c.4662G>A (p.Glu1554=) c.4797G>A (p.Glu1599=) c.4761G>A (p.Glu1587=) c.4887G>A (p.Glu1629=) c.4815G>A (p.Glu1605=) c.4803G>A (p.Glu1601=) | |
| X | g.108157241T>A | CA413848796 | COL4A6 | c.4832A>T (p.Glu1611Val) c.4835A>T (p.Glu1612Val) c.4883A>T (p.Glu1628Val) c.4661A>T (p.Glu1554Val) c.4796A>T (p.Glu1599Val) c.4760A>T (p.Glu1587Val) c.4886A>T (p.Glu1629Val) c.4814A>T (p.Glu1605Val) c.4802A>T (p.Glu1601Val) | |
| X | g.108157241T>C | CA413848798 | COL4A6 | c.4832A>G (p.Glu1611Gly) c.4835A>G (p.Glu1612Gly) c.4883A>G (p.Glu1628Gly) c.4661A>G (p.Glu1554Gly) c.4796A>G (p.Glu1599Gly) c.4760A>G (p.Glu1587Gly) c.4886A>G (p.Glu1629Gly) c.4814A>G (p.Glu1605Gly) c.4802A>G (p.Glu1601Gly) | |
| X | g.108157241T>G | CA413848801 | COL4A6 | c.4832A>C (p.Glu1611Ala) c.4835A>C (p.Glu1612Ala) c.4883A>C (p.Glu1628Ala) c.4661A>C (p.Glu1554Ala) c.4796A>C (p.Glu1599Ala) c.4760A>C (p.Glu1587Ala) c.4886A>C (p.Glu1629Ala) c.4814A>C (p.Glu1605Ala) c.4802A>C (p.Glu1601Ala) | |
| X | g.108157242del | CA2579674568 | COL4A6 | c.4831del (p.Glu1611ArgfsTer14) c.4834del (p.Glu1612ArgfsTer14) c.4882del (p.Glu1628ArgfsTer14) c.4660del (p.Glu1554ArgfsTer14) c.4795del (p.Glu1599ArgfsTer14) c.4759del (p.Glu1587ArgfsTer14) c.4885del (p.Glu1629ArgfsTer14) c.4813del (p.Glu1605ArgfsTer14) c.4801del (p.Glu1601ArgfsTer14) | |
| X | g.108157242C>A | CA413848805 | COL4A6 | c.4831G>T (p.Glu1611Ter) c.4834G>T (p.Glu1612Ter) c.4882G>T (p.Glu1628Ter) c.4660G>T (p.Glu1554Ter) c.4795G>T (p.Glu1599Ter) c.4759G>T (p.Glu1587Ter) c.4885G>T (p.Glu1629Ter) c.4813G>T (p.Glu1605Ter) c.4801G>T (p.Glu1601Ter) | |
| X | g.108157242C= | CA2450541995 | COL4A6 | c.4831G= (p.Glu1611=) c.4834G= (p.Glu1612=) c.4882G= (p.Glu1628=) c.4660G= (p.Glu1554=) c.4795G= (p.Glu1599=) c.4759G= (p.Glu1587=) c.4885G= (p.Glu1629=) c.4813G= (p.Glu1605=) c.4801G= (p.Glu1601=) | |
| X | g.108157242C>G | CA10487101 | COL4A6 | c.4831G>C (p.Glu1611Gln) c.4834G>C (p.Glu1612Gln) c.4882G>C (p.Glu1628Gln) c.4660G>C (p.Glu1554Gln) c.4795G>C (p.Glu1599Gln) c.4759G>C (p.Glu1587Gln) c.4885G>C (p.Glu1629Gln) c.4813G>C (p.Glu1605Gln) c.4801G>C (p.Glu1601Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.108157242C>T | CA10487102 | COL4A6 | c.4831G>A (p.Glu1611Lys) c.4834G>A (p.Glu1612Lys) c.4882G>A (p.Glu1628Lys) c.4660G>A (p.Glu1554Lys) c.4795G>A (p.Glu1599Lys) c.4759G>A (p.Glu1587Lys) c.4885G>A (p.Glu1629Lys) c.4813G>A (p.Glu1605Lys) c.4801G>A (p.Glu1601Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157243G>A | CA10487103 | COL4A6 | c.4830C>T (p.Ala1610=) c.4833C>T (p.Ala1611=) c.4881C>T (p.Ala1627=) c.4659C>T (p.Ala1553=) c.4794C>T (p.Ala1598=) c.4758C>T (p.Ala1586=) c.4884C>T (p.Ala1628=) c.4812C>T (p.Ala1604=) c.4800C>T (p.Ala1600=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157243G>C | CA518100884 | COL4A6 | c.4830C>G (p.Ala1610=) c.4833C>G (p.Ala1611=) c.4881C>G (p.Ala1627=) c.4659C>G (p.Ala1553=) c.4794C>G (p.Ala1598=) c.4758C>G (p.Ala1586=) c.4884C>G (p.Ala1628=) c.4812C>G (p.Ala1604=) c.4800C>G (p.Ala1600=) | |
| X | g.108157243G= | CA2450541996 | COL4A6 | c.4830C= (p.Ala1610=) c.4833C= (p.Ala1611=) c.4881C= (p.Ala1627=) c.4659C= (p.Ala1553=) c.4794C= (p.Ala1598=) c.4758C= (p.Ala1586=) c.4884C= (p.Ala1628=) c.4812C= (p.Ala1604=) c.4800C= (p.Ala1600=) | |
| X | g.108157243G>T | CA518100885 | COL4A6 | c.4830C>A (p.Ala1610=) c.4833C>A (p.Ala1611=) c.4881C>A (p.Ala1627=) c.4659C>A (p.Ala1553=) c.4794C>A (p.Ala1598=) c.4758C>A (p.Ala1586=) c.4884C>A (p.Ala1628=) c.4812C>A (p.Ala1604=) c.4800C>A (p.Ala1600=) | |
| X | g.108157244G>A | CA10487104 | COL4A6 | c.4829C>T (p.Ala1610Val) c.4832C>T (p.Ala1611Val) c.4880C>T (p.Ala1627Val) c.4658C>T (p.Ala1553Val) c.4793C>T (p.Ala1598Val) c.4757C>T (p.Ala1586Val) c.4883C>T (p.Ala1628Val) c.4811C>T (p.Ala1604Val) c.4799C>T (p.Ala1600Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157244G>C | CA413848813 | COL4A6 | c.4829C>G (p.Ala1610Gly) c.4832C>G (p.Ala1611Gly) c.4880C>G (p.Ala1627Gly) c.4658C>G (p.Ala1553Gly) c.4793C>G (p.Ala1598Gly) c.4757C>G (p.Ala1586Gly) c.4883C>G (p.Ala1628Gly) c.4811C>G (p.Ala1604Gly) c.4799C>G (p.Ala1600Gly) | |
| X | g.108157244G= | CA2450541997 | COL4A6 | c.4829C= (p.Ala1610=) c.4832C= (p.Ala1611=) c.4880C= (p.Ala1627=) c.4658C= (p.Ala1553=) c.4793C= (p.Ala1598=) c.4757C= (p.Ala1586=) c.4883C= (p.Ala1628=) c.4811C= (p.Ala1604=) c.4799C= (p.Ala1600=) | |
| X | g.108157244G>T | CA413848814 | COL4A6 | c.4829C>A (p.Ala1610Asp) c.4832C>A (p.Ala1611Asp) c.4880C>A (p.Ala1627Asp) c.4658C>A (p.Ala1553Asp) c.4793C>A (p.Ala1598Asp) c.4757C>A (p.Ala1586Asp) c.4883C>A (p.Ala1628Asp) c.4811C>A (p.Ala1604Asp) c.4799C>A (p.Ala1600Asp) | |
| X | g.108157245C>A | CA413848823 | COL4A6 | c.4828G>T (p.Ala1610Ser) c.4831G>T (p.Ala1611Ser) c.4879G>T (p.Ala1627Ser) c.4657G>T (p.Ala1553Ser) c.4792G>T (p.Ala1598Ser) c.4756G>T (p.Ala1586Ser) c.4882G>T (p.Ala1628Ser) c.4810G>T (p.Ala1604Ser) c.4798G>T (p.Ala1600Ser) | |
| X | g.108157245C>G | CA413848821 | COL4A6 | c.4828G>C (p.Ala1610Pro) c.4831G>C (p.Ala1611Pro) c.4879G>C (p.Ala1627Pro) c.4657G>C (p.Ala1553Pro) c.4792G>C (p.Ala1598Pro) c.4756G>C (p.Ala1586Pro) c.4882G>C (p.Ala1628Pro) c.4810G>C (p.Ala1604Pro) c.4798G>C (p.Ala1600Pro) | |
| X | g.108157245C>T | CA413848819 | COL4A6 | c.4828G>A (p.Ala1610Thr) c.4831G>A (p.Ala1611Thr) c.4879G>A (p.Ala1627Thr) c.4657G>A (p.Ala1553Thr) c.4792G>A (p.Ala1598Thr) c.4756G>A (p.Ala1586Thr) c.4882G>A (p.Ala1628Thr) c.4810G>A (p.Ala1604Thr) c.4798G>A (p.Ala1600Thr) | |
| X | g.108157246A>C | CA518100886 | COL4A6 | c.4827T>G (p.Gly1609=) c.4830T>G (p.Gly1610=) c.4878T>G (p.Gly1626=) c.4656T>G (p.Gly1552=) c.4791T>G (p.Gly1597=) c.4755T>G (p.Gly1585=) c.4881T>G (p.Gly1627=) c.4809T>G (p.Gly1603=) c.4797T>G (p.Gly1599=) | |
| X | g.108157246A>G | CA518100887 | COL4A6 | c.4827T>C (p.Gly1609=) c.4830T>C (p.Gly1610=) c.4878T>C (p.Gly1626=) c.4656T>C (p.Gly1552=) c.4791T>C (p.Gly1597=) c.4755T>C (p.Gly1585=) c.4881T>C (p.Gly1627=) c.4809T>C (p.Gly1603=) c.4797T>C (p.Gly1599=) | |
| X | g.108157246A>T | CA518100888 | COL4A6 | c.4827T>A (p.Gly1609=) c.4830T>A (p.Gly1610=) c.4878T>A (p.Gly1626=) c.4656T>A (p.Gly1552=) c.4791T>A (p.Gly1597=) c.4755T>A (p.Gly1585=) c.4881T>A (p.Gly1627=) c.4809T>A (p.Gly1603=) c.4797T>A (p.Gly1599=) | |
| X | g.108157247C>A | CA413848828 | COL4A6 | c.4826G>T (p.Gly1609Val) c.4829G>T (p.Gly1610Val) c.4877G>T (p.Gly1626Val) c.4655G>T (p.Gly1552Val) c.4790G>T (p.Gly1597Val) c.4754G>T (p.Gly1585Val) c.4880G>T (p.Gly1627Val) c.4808G>T (p.Gly1603Val) c.4796G>T (p.Gly1599Val) | |
| X | g.108157247C= | CA2450541998 | COL4A6 | c.4826G= (p.Gly1609=) c.4829G= (p.Gly1610=) c.4877G= (p.Gly1626=) c.4655G= (p.Gly1552=) c.4790G= (p.Gly1597=) c.4754G= (p.Gly1585=) c.4880G= (p.Gly1627=) c.4808G= (p.Gly1603=) c.4796G= (p.Gly1599=) | |
| X | g.108157247C>G | CA413848830 | COL4A6 | c.4826G>C (p.Gly1609Ala) c.4829G>C (p.Gly1610Ala) c.4877G>C (p.Gly1626Ala) c.4655G>C (p.Gly1552Ala) c.4790G>C (p.Gly1597Ala) c.4754G>C (p.Gly1585Ala) c.4880G>C (p.Gly1627Ala) c.4808G>C (p.Gly1603Ala) c.4796G>C (p.Gly1599Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157247C>T | CA413848833 | COL4A6 | c.4826G>A (p.Gly1609Asp) c.4829G>A (p.Gly1610Asp) c.4877G>A (p.Gly1626Asp) c.4655G>A (p.Gly1552Asp) c.4790G>A (p.Gly1597Asp) c.4754G>A (p.Gly1585Asp) c.4880G>A (p.Gly1627Asp) c.4808G>A (p.Gly1603Asp) c.4796G>A (p.Gly1599Asp) | |
| X | g.108157248C>A | CA413848836 | COL4A6 | c.4825G>T (p.Gly1609Cys) c.4828G>T (p.Gly1610Cys) c.4876G>T (p.Gly1626Cys) c.4654G>T (p.Gly1552Cys) c.4789G>T (p.Gly1597Cys) c.4753G>T (p.Gly1585Cys) c.4879G>T (p.Gly1627Cys) c.4807G>T (p.Gly1603Cys) c.4795G>T (p.Gly1599Cys) | |
| X | g.108157248C>G | CA413848839 | COL4A6 | c.4825G>C (p.Gly1609Arg) c.4828G>C (p.Gly1610Arg) c.4876G>C (p.Gly1626Arg) c.4654G>C (p.Gly1552Arg) c.4789G>C (p.Gly1597Arg) c.4753G>C (p.Gly1585Arg) c.4879G>C (p.Gly1627Arg) c.4807G>C (p.Gly1603Arg) c.4795G>C (p.Gly1599Arg) | |
| X | g.108157248C>T | CA413848842 | COL4A6 | c.4825G>A (p.Gly1609Ser) c.4828G>A (p.Gly1610Ser) c.4876G>A (p.Gly1626Ser) c.4654G>A (p.Gly1552Ser) c.4789G>A (p.Gly1597Ser) c.4753G>A (p.Gly1585Ser) c.4879G>A (p.Gly1627Ser) c.4807G>A (p.Gly1603Ser) c.4795G>A (p.Gly1599Ser) | gnomAD v4 |
| X | g.108157249A>C | CA518100889 | COL4A6 | c.4824T>G (p.Ala1608=) c.4827T>G (p.Ala1609=) c.4875T>G (p.Ala1625=) c.4653T>G (p.Ala1551=) c.4788T>G (p.Ala1596=) c.4752T>G (p.Ala1584=) c.4878T>G (p.Ala1626=) c.4806T>G (p.Ala1602=) c.4794T>G (p.Ala1598=) | |
| X | g.108157249A>G | CA518100890 | COL4A6 | c.4824T>C (p.Ala1608=) c.4827T>C (p.Ala1609=) c.4875T>C (p.Ala1625=) c.4653T>C (p.Ala1551=) c.4788T>C (p.Ala1596=) c.4752T>C (p.Ala1584=) c.4878T>C (p.Ala1626=) c.4806T>C (p.Ala1602=) c.4794T>C (p.Ala1598=) | gnomAD v4 |
| X | g.108157249A>T | CA518100891 | COL4A6 | c.4824T>A (p.Ala1608=) c.4827T>A (p.Ala1609=) c.4875T>A (p.Ala1625=) c.4653T>A (p.Ala1551=) c.4788T>A (p.Ala1596=) c.4752T>A (p.Ala1584=) c.4878T>A (p.Ala1626=) c.4806T>A (p.Ala1602=) c.4794T>A (p.Ala1598=) | |
| X | g.108157250G>A | CA413848845 | COL4A6 | c.4823C>T (p.Ala1608Val) c.4826C>T (p.Ala1609Val) c.4874C>T (p.Ala1625Val) c.4652C>T (p.Ala1551Val) c.4787C>T (p.Ala1596Val) c.4751C>T (p.Ala1584Val) c.4877C>T (p.Ala1626Val) c.4805C>T (p.Ala1602Val) c.4793C>T (p.Ala1598Val) | |
| X | g.108157250G>C | CA413848847 | COL4A6 | c.4823C>G (p.Ala1608Gly) c.4826C>G (p.Ala1609Gly) c.4874C>G (p.Ala1625Gly) c.4652C>G (p.Ala1551Gly) c.4787C>G (p.Ala1596Gly) c.4751C>G (p.Ala1584Gly) c.4877C>G (p.Ala1626Gly) c.4805C>G (p.Ala1602Gly) c.4793C>G (p.Ala1598Gly) | |
| X | g.108157250G>T | CA413848849 | COL4A6 | c.4823C>A (p.Ala1608Asp) c.4826C>A (p.Ala1609Asp) c.4874C>A (p.Ala1625Asp) c.4652C>A (p.Ala1551Asp) c.4787C>A (p.Ala1596Asp) c.4751C>A (p.Ala1584Asp) c.4877C>A (p.Ala1626Asp) c.4805C>A (p.Ala1602Asp) c.4793C>A (p.Ala1598Asp) | |
| X | g.108157251C>A | CA413848850 | COL4A6 | c.4822G>T (p.Ala1608Ser) c.4825G>T (p.Ala1609Ser) c.4873G>T (p.Ala1625Ser) c.4651G>T (p.Ala1551Ser) c.4786G>T (p.Ala1596Ser) c.4750G>T (p.Ala1584Ser) c.4876G>T (p.Ala1626Ser) c.4804G>T (p.Ala1602Ser) c.4792G>T (p.Ala1598Ser) | |
| X | g.108157251C= | CA2450541999 | COL4A6 | c.4822G= (p.Ala1608=) c.4825G= (p.Ala1609=) c.4873G= (p.Ala1625=) c.4651G= (p.Ala1551=) c.4786G= (p.Ala1596=) c.4750G= (p.Ala1584=) c.4876G= (p.Ala1626=) c.4804G= (p.Ala1602=) c.4792G= (p.Ala1598=) | |
| X | g.108157251C>G | CA413848853 | COL4A6 | c.4822G>C (p.Ala1608Pro) c.4825G>C (p.Ala1609Pro) c.4873G>C (p.Ala1625Pro) c.4651G>C (p.Ala1551Pro) c.4786G>C (p.Ala1596Pro) c.4750G>C (p.Ala1584Pro) c.4876G>C (p.Ala1626Pro) c.4804G>C (p.Ala1602Pro) c.4792G>C (p.Ala1598Pro) | gnomAD v4 |
| X | g.108157251C>T | CA10487105 | COL4A6 | c.4822G>A (p.Ala1608Thr) c.4825G>A (p.Ala1609Thr) c.4873G>A (p.Ala1625Thr) c.4651G>A (p.Ala1551Thr) c.4786G>A (p.Ala1596Thr) c.4750G>A (p.Ala1584Thr) c.4876G>A (p.Ala1626Thr) c.4804G>A (p.Ala1602Thr) c.4792G>A (p.Ala1598Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157252G>A | CA518100892 | COL4A6 | c.4821C>T (p.Ala1607=) c.4824C>T (p.Ala1608=) c.4872C>T (p.Ala1624=) c.4650C>T (p.Ala1550=) c.4785C>T (p.Ala1595=) c.4749C>T (p.Ala1583=) c.4875C>T (p.Ala1625=) c.4803C>T (p.Ala1601=) c.4791C>T (p.Ala1597=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157252G>C | CA518100894 | COL4A6 | c.4821C>G (p.Ala1607=) c.4824C>G (p.Ala1608=) c.4872C>G (p.Ala1624=) c.4650C>G (p.Ala1550=) c.4785C>G (p.Ala1595=) c.4749C>G (p.Ala1583=) c.4875C>G (p.Ala1625=) c.4803C>G (p.Ala1601=) c.4791C>G (p.Ala1597=) | |
| X | g.108157252G= | CA2450542000 | COL4A6 | c.4821C= (p.Ala1607=) c.4824C= (p.Ala1608=) c.4872C= (p.Ala1624=) c.4650C= (p.Ala1550=) c.4785C= (p.Ala1595=) c.4749C= (p.Ala1583=) c.4875C= (p.Ala1625=) c.4803C= (p.Ala1601=) c.4791C= (p.Ala1597=) | |
| X | g.108157252G>T | CA518100893 | COL4A6 | c.4821C>A (p.Ala1607=) c.4824C>A (p.Ala1608=) c.4872C>A (p.Ala1624=) c.4650C>A (p.Ala1550=) c.4785C>A (p.Ala1595=) c.4749C>A (p.Ala1583=) c.4875C>A (p.Ala1625=) c.4803C>A (p.Ala1601=) c.4791C>A (p.Ala1597=) | |
| X | g.108157253G>A | CA413848864 | COL4A6 | c.4820C>T (p.Ala1607Val) c.4823C>T (p.Ala1608Val) c.4871C>T (p.Ala1624Val) c.4649C>T (p.Ala1550Val) c.4784C>T (p.Ala1595Val) c.4748C>T (p.Ala1583Val) c.4874C>T (p.Ala1625Val) c.4802C>T (p.Ala1601Val) c.4790C>T (p.Ala1597Val) | gnomAD v4 |
| X | g.108157253G>C | CA413848858 | COL4A6 | c.4820C>G (p.Ala1607Gly) c.4823C>G (p.Ala1608Gly) c.4871C>G (p.Ala1624Gly) c.4649C>G (p.Ala1550Gly) c.4784C>G (p.Ala1595Gly) c.4748C>G (p.Ala1583Gly) c.4874C>G (p.Ala1625Gly) c.4802C>G (p.Ala1601Gly) c.4790C>G (p.Ala1597Gly) | |
| X | g.108157253G>T | CA413848861 | COL4A6 | c.4820C>A (p.Ala1607Asp) c.4823C>A (p.Ala1608Asp) c.4871C>A (p.Ala1624Asp) c.4649C>A (p.Ala1550Asp) c.4784C>A (p.Ala1595Asp) c.4748C>A (p.Ala1583Asp) c.4874C>A (p.Ala1625Asp) c.4802C>A (p.Ala1601Asp) c.4790C>A (p.Ala1597Asp) | gnomAD v4 |
| X | g.108157254C>A | CA413848871 | COL4A6 | c.4819G>T (p.Ala1607Ser) c.4822G>T (p.Ala1608Ser) c.4870G>T (p.Ala1624Ser) c.4648G>T (p.Ala1550Ser) c.4783G>T (p.Ala1595Ser) c.4747G>T (p.Ala1583Ser) c.4873G>T (p.Ala1625Ser) c.4801G>T (p.Ala1601Ser) c.4789G>T (p.Ala1597Ser) | |
| X | g.108157254C= | CA2450542001 | COL4A6 | c.4819G= (p.Ala1607=) c.4822G= (p.Ala1608=) c.4870G= (p.Ala1624=) c.4648G= (p.Ala1550=) c.4783G= (p.Ala1595=) c.4747G= (p.Ala1583=) c.4873G= (p.Ala1625=) c.4801G= (p.Ala1601=) c.4789G= (p.Ala1597=) | |
| X | g.108157254C>G | CA413848874 | COL4A6 | c.4819G>C (p.Ala1607Pro) c.4822G>C (p.Ala1608Pro) c.4870G>C (p.Ala1624Pro) c.4648G>C (p.Ala1550Pro) c.4783G>C (p.Ala1595Pro) c.4747G>C (p.Ala1583Pro) c.4873G>C (p.Ala1625Pro) c.4801G>C (p.Ala1601Pro) c.4789G>C (p.Ala1597Pro) | |
| X | g.108157254C>T | CA413848876 | COL4A6 | c.4819G>A (p.Ala1607Thr) c.4822G>A (p.Ala1608Thr) c.4870G>A (p.Ala1624Thr) c.4648G>A (p.Ala1550Thr) c.4783G>A (p.Ala1595Thr) c.4747G>A (p.Ala1583Thr) c.4873G>A (p.Ala1625Thr) c.4801G>A (p.Ala1601Thr) c.4789G>A (p.Ala1597Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157255A>C | CA518100895 | COL4A6 | c.4818T>G (p.Thr1606=) c.4821T>G (p.Thr1607=) c.4869T>G (p.Thr1623=) c.4647T>G (p.Thr1549=) c.4782T>G (p.Thr1594=) c.4746T>G (p.Thr1582=) c.4872T>G (p.Thr1624=) c.4800T>G (p.Thr1600=) c.4788T>G (p.Thr1596=) | |
| X | g.108157255A>G | CA518100896 | COL4A6 | c.4818T>C (p.Thr1606=) c.4821T>C (p.Thr1607=) c.4869T>C (p.Thr1623=) c.4647T>C (p.Thr1549=) c.4782T>C (p.Thr1594=) c.4746T>C (p.Thr1582=) c.4872T>C (p.Thr1624=) c.4800T>C (p.Thr1600=) c.4788T>C (p.Thr1596=) | |
| X | g.108157255A>T | CA518100897 | COL4A6 | c.4818T>A (p.Thr1606=) c.4821T>A (p.Thr1607=) c.4869T>A (p.Thr1623=) c.4647T>A (p.Thr1549=) c.4782T>A (p.Thr1594=) c.4746T>A (p.Thr1582=) c.4872T>A (p.Thr1624=) c.4800T>A (p.Thr1600=) c.4788T>A (p.Thr1596=) | gnomAD v4 |
| X | g.108157255_108157256insCCCTGCACCGGCTGC | CA2525161445 | COL4A6 | c.4817_4818insGCAGCCGGTGCAGGG (p.Thr1606_Ala1607insGlnProValGlnGly) c.4820_4821insGCAGCCGGTGCAGGG (p.Thr1607_Ala1608insGlnProValGlnGly) c.4868_4869insGCAGCCGGTGCAGGG (p.Thr1623_Ala1624insGlnProValGlnGly) c.4646_4647insGCAGCCGGTGCAGGG (p.Thr1549_Ala1550insGlnProValGlnGly) c.4781_4782insGCAGCCGGTGCAGGG (p.Thr1594_Ala1595insGlnProValGlnGly) c.4745_4746insGCAGCCGGTGCAGGG (p.Thr1582_Ala1583insGlnProValGlnGly) c.4871_4872insGCAGCCGGTGCAGGG (p.Thr1624_Ala1625insGlnProValGlnGly) c.4799_4800insGCAGCCGGTGCAGGG (p.Thr1600_Ala1601insGlnProValGlnGly) c.4787_4788insGCAGCCGGTGCAGGG (p.Thr1596_Ala1597insGlnProValGlnGly) | |
| X | g.108157256G>A | CA413848880 | COL4A6 | c.4817C>T (p.Thr1606Ile) c.4820C>T (p.Thr1607Ile) c.4868C>T (p.Thr1623Ile) c.4646C>T (p.Thr1549Ile) c.4781C>T (p.Thr1594Ile) c.4745C>T (p.Thr1582Ile) c.4871C>T (p.Thr1624Ile) c.4799C>T (p.Thr1600Ile) c.4787C>T (p.Thr1596Ile) | |
| X | g.108157256G>C | CA413848882 | COL4A6 | c.4817C>G (p.Thr1606Ser) c.4820C>G (p.Thr1607Ser) c.4868C>G (p.Thr1623Ser) c.4646C>G (p.Thr1549Ser) c.4781C>G (p.Thr1594Ser) c.4745C>G (p.Thr1582Ser) c.4871C>G (p.Thr1624Ser) c.4799C>G (p.Thr1600Ser) c.4787C>G (p.Thr1596Ser) | |
| X | g.108157256G>T | CA413848885 | COL4A6 | c.4817C>A (p.Thr1606Asn) c.4820C>A (p.Thr1607Asn) c.4868C>A (p.Thr1623Asn) c.4646C>A (p.Thr1549Asn) c.4781C>A (p.Thr1594Asn) c.4745C>A (p.Thr1582Asn) c.4871C>A (p.Thr1624Asn) c.4799C>A (p.Thr1600Asn) c.4787C>A (p.Thr1596Asn) | |
| X | g.108157257T>A | CA413848889 | COL4A6 | c.4816A>T (p.Thr1606Ser) c.4819A>T (p.Thr1607Ser) c.4867A>T (p.Thr1623Ser) c.4645A>T (p.Thr1549Ser) c.4780A>T (p.Thr1594Ser) c.4744A>T (p.Thr1582Ser) c.4870A>T (p.Thr1624Ser) c.4798A>T (p.Thr1600Ser) c.4786A>T (p.Thr1596Ser) | |
| X | g.108157257T>C | CA413848891 | COL4A6 | c.4816A>G (p.Thr1606Ala) c.4819A>G (p.Thr1607Ala) c.4867A>G (p.Thr1623Ala) c.4645A>G (p.Thr1549Ala) c.4780A>G (p.Thr1594Ala) c.4744A>G (p.Thr1582Ala) c.4870A>G (p.Thr1624Ala) c.4798A>G (p.Thr1600Ala) c.4786A>G (p.Thr1596Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157257T>G | CA413848894 | COL4A6 | c.4816A>C (p.Thr1606Pro) c.4819A>C (p.Thr1607Pro) c.4867A>C (p.Thr1623Pro) c.4645A>C (p.Thr1549Pro) c.4780A>C (p.Thr1594Pro) c.4744A>C (p.Thr1582Pro) c.4870A>C (p.Thr1624Pro) c.4798A>C (p.Thr1600Pro) c.4786A>C (p.Thr1596Pro) | |
| X | g.108157257T= | CA2450542002 | COL4A6 | c.4816A= (p.Thr1606=) c.4819A= (p.Thr1607=) c.4867A= (p.Thr1623=) c.4645A= (p.Thr1549=) c.4780A= (p.Thr1594=) c.4744A= (p.Thr1582=) c.4870A= (p.Thr1624=) c.4798A= (p.Thr1600=) c.4786A= (p.Thr1596=) | |
| X | g.108157257_108157258insCCCGGACACCTTCCCACCCGGC | CA2554010107 | COL4A6 | c.4815_4816insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1606AlafsTer?) c.4818_4819insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1607AlafsTer?) c.4866_4867insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1623AlafsTer?) c.4644_4645insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1549AlafsTer?) c.4779_4780insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1594AlafsTer?) c.4743_4744insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1582AlafsTer?) c.4869_4870insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1624AlafsTer?) c.4797_4798insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1600AlafsTer?) c.4785_4786insGCCGGGTGGGAAGGTGTCCGGG (p.Thr1596AlafsTer?) | |
| X | g.108157258G>A | CA518100898 | COL4A6 | c.4815C>T (p.His1605=) c.4818C>T (p.His1606=) c.4866C>T (p.His1622=) c.4644C>T (p.His1548=) c.4779C>T (p.His1593=) c.4743C>T (p.His1581=) c.4869C>T (p.His1623=) c.4797C>T (p.His1599=) c.4785C>T (p.His1595=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157258G>C | CA413848898 | COL4A6 | c.4815C>G (p.His1605Gln) c.4818C>G (p.His1606Gln) c.4866C>G (p.His1622Gln) c.4644C>G (p.His1548Gln) c.4779C>G (p.His1593Gln) c.4743C>G (p.His1581Gln) c.4869C>G (p.His1623Gln) c.4797C>G (p.His1599Gln) c.4785C>G (p.His1595Gln) | |
| X | g.108157258G= | CA2450542003 | COL4A6 | c.4815C= (p.His1605=) c.4818C= (p.His1606=) c.4866C= (p.His1622=) c.4644C= (p.His1548=) c.4779C= (p.His1593=) c.4743C= (p.His1581=) c.4869C= (p.His1623=) c.4797C= (p.His1599=) c.4785C= (p.His1595=) | |
| X | g.108157258G>T | CA413848900 | COL4A6 | c.4815C>A (p.His1605Gln) c.4818C>A (p.His1606Gln) c.4866C>A (p.His1622Gln) c.4644C>A (p.His1548Gln) c.4779C>A (p.His1593Gln) c.4743C>A (p.His1581Gln) c.4869C>A (p.His1623Gln) c.4797C>A (p.His1599Gln) c.4785C>A (p.His1595Gln) | |
| X | g.108157259T>A | CA413848908 | COL4A6 | c.4814A>T (p.His1605Leu) c.4817A>T (p.His1606Leu) c.4865A>T (p.His1622Leu) c.4643A>T (p.His1548Leu) c.4778A>T (p.His1593Leu) c.4742A>T (p.His1581Leu) c.4868A>T (p.His1623Leu) c.4796A>T (p.His1599Leu) c.4784A>T (p.His1595Leu) | |
| X | g.108157259T>C | CA413848907 | COL4A6 | c.4814A>G (p.His1605Arg) c.4817A>G (p.His1606Arg) c.4865A>G (p.His1622Arg) c.4643A>G (p.His1548Arg) c.4778A>G (p.His1593Arg) c.4742A>G (p.His1581Arg) c.4868A>G (p.His1623Arg) c.4796A>G (p.His1599Arg) c.4784A>G (p.His1595Arg) | |
| X | g.108157259T>G | CA413848904 | COL4A6 | c.4814A>C (p.His1605Pro) c.4817A>C (p.His1606Pro) c.4865A>C (p.His1622Pro) c.4643A>C (p.His1548Pro) c.4778A>C (p.His1593Pro) c.4742A>C (p.His1581Pro) c.4868A>C (p.His1623Pro) c.4796A>C (p.His1599Pro) c.4784A>C (p.His1595Pro) | |
| X | g.108157260G>A | CA413848911 | COL4A6 | c.4813C>T (p.His1605Tyr) c.4816C>T (p.His1606Tyr) c.4864C>T (p.His1622Tyr) c.4642C>T (p.His1548Tyr) c.4777C>T (p.His1593Tyr) c.4741C>T (p.His1581Tyr) c.4867C>T (p.His1623Tyr) c.4795C>T (p.His1599Tyr) c.4783C>T (p.His1595Tyr) | |
| X | g.108157260G>C | CA413848917 | COL4A6 | c.4813C>G (p.His1605Asp) c.4816C>G (p.His1606Asp) c.4864C>G (p.His1622Asp) c.4642C>G (p.His1548Asp) c.4777C>G (p.His1593Asp) c.4741C>G (p.His1581Asp) c.4867C>G (p.His1623Asp) c.4795C>G (p.His1599Asp) c.4783C>G (p.His1595Asp) | |
| X | g.108157260G>T | CA413848914 | COL4A6 | c.4813C>A (p.His1605Asn) c.4816C>A (p.His1606Asn) c.4864C>A (p.His1622Asn) c.4642C>A (p.His1548Asn) c.4777C>A (p.His1593Asn) c.4741C>A (p.His1581Asn) c.4867C>A (p.His1623Asn) c.4795C>A (p.His1599Asn) c.4783C>A (p.His1595Asn) | |
| X | g.108157260_108157261insGCCAAGCGATACTCGGCACTCTGCGCGTGGGCCTCCAGCCCTTCGGCGCGTGCCAGCGTGGCTGCCACCTTCGCCAGGTGGTCGG | CA2504118313 | COL4A6 | c.4813_4814insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1605ProfsTer?) c.4816_4817insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1606ProfsTer?) c.4864_4865insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1622ProfsTer?) c.4642_4643insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1548ProfsTer?) c.4777_4778insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1593ProfsTer?) c.4741_4742insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1581ProfsTer?) c.4867_4868insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1623ProfsTer?) c.4795_4796insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1599ProfsTer?) c.4783_4784insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC (p.His1595ProfsTer?) | |
| X | g.108157261C>A | CA413848923 | COL4A6 | c.4813-1G>T (n.4813-1G>T) c.4816-1G>T (n.4816-1G>T) c.4864-1G>T (n.4864-1G>T) c.4642-1G>T (n.4642-1G>T) c.4777-1G>T (n.4777-1G>T) c.4741-1G>T (n.4741-1G>T) c.4867-1G>T (n.4867-1G>T) c.4795-1G>T (n.4795-1G>T) c.4783-1G>T (n.4783-1G>T) | |
| X | g.108157261C>G | CA413848925 | COL4A6 | c.4813-1G>C (n.4813-1G>C) c.4816-1G>C (n.4816-1G>C) c.4864-1G>C (n.4864-1G>C) c.4642-1G>C (n.4642-1G>C) c.4777-1G>C (n.4777-1G>C) c.4741-1G>C (n.4741-1G>C) c.4867-1G>C (n.4867-1G>C) c.4795-1G>C (n.4795-1G>C) c.4783-1G>C (n.4783-1G>C) | |
| X | g.108157261C>T | CA413848927 | COL4A6 | c.4813-1G>A (n.4813-1G>A) c.4816-1G>A (n.4816-1G>A) c.4864-1G>A (n.4864-1G>A) c.4642-1G>A (n.4642-1G>A) c.4777-1G>A (n.4777-1G>A) c.4741-1G>A (n.4741-1G>A) c.4867-1G>A (n.4867-1G>A) c.4795-1G>A (n.4795-1G>A) c.4783-1G>A (n.4783-1G>A) | |
| X | g.108157262T>A | CA413848928 | COL4A6 | c.4813-2A>T (n.4813-2A>T) c.4816-2A>T (n.4816-2A>T) c.4864-2A>T (n.4864-2A>T) c.4642-2A>T (n.4642-2A>T) c.4777-2A>T (n.4777-2A>T) c.4741-2A>T (n.4741-2A>T) c.4867-2A>T (n.4867-2A>T) c.4795-2A>T (n.4795-2A>T) c.4783-2A>T (n.4783-2A>T) | |
| X | g.108157262T>C | CA413848930 | COL4A6 | c.4813-2A>G (n.4813-2A>G) c.4816-2A>G (n.4816-2A>G) c.4864-2A>G (n.4864-2A>G) c.4642-2A>G (n.4642-2A>G) c.4777-2A>G (n.4777-2A>G) c.4741-2A>G (n.4741-2A>G) c.4867-2A>G (n.4867-2A>G) c.4795-2A>G (n.4795-2A>G) c.4783-2A>G (n.4783-2A>G) | |
| X | g.108157262T>G | CA413848932 | COL4A6 | c.4813-2A>C (n.4813-2A>C) c.4816-2A>C (n.4816-2A>C) c.4864-2A>C (n.4864-2A>C) c.4642-2A>C (n.4642-2A>C) c.4777-2A>C (n.4777-2A>C) c.4741-2A>C (n.4741-2A>C) c.4867-2A>C (n.4867-2A>C) c.4795-2A>C (n.4795-2A>C) c.4783-2A>C (n.4783-2A>C) | |
| X | g.108157263G>A | CA869784643 | COL4A6 | c.4813-3C>T (n.4813-3C>T) c.4816-3C>T (n.4816-3C>T) c.4864-3C>T (n.4864-3C>T) c.4642-3C>T (n.4642-3C>T) c.4777-3C>T (n.4777-3C>T) c.4741-3C>T (n.4741-3C>T) c.4867-3C>T (n.4867-3C>T) c.4795-3C>T (n.4795-3C>T) c.4783-3C>T (n.4783-3C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157263G= | CA2450542004 | COL4A6 | c.4813-3C= (n.4813-3C=) c.4816-3C= (n.4816-3C=) c.4864-3C= (n.4864-3C=) c.4642-3C= (n.4642-3C=) c.4777-3C= (n.4777-3C=) c.4741-3C= (n.4741-3C=) c.4867-3C= (n.4867-3C=) c.4795-3C= (n.4795-3C=) c.4783-3C= (n.4783-3C=) | |
| X | g.108157265A= | CA2450542007 | COL4A6 | c.4813-5T= (n.4813-5T=) c.4816-5T= (n.4816-5T=) c.4864-5T= (n.4864-5T=) c.4642-5T= (n.4642-5T=) c.4777-5T= (n.4777-5T=) c.4741-5T= (n.4741-5T=) c.4867-5T= (n.4867-5T=) c.4795-5T= (n.4795-5T=) c.4783-5T= (n.4783-5T=) | |
| X | g.108157265A>C | CA2450542006 | COL4A6 | c.4813-5T>G (n.4813-5T>G) c.4816-5T>G (n.4816-5T>G) c.4864-5T>G (n.4864-5T>G) c.4642-5T>G (n.4642-5T>G) c.4777-5T>G (n.4777-5T>G) c.4741-5T>G (n.4741-5T>G) c.4867-5T>G (n.4867-5T>G) c.4795-5T>G (n.4795-5T>G) c.4783-5T>G (n.4783-5T>G) | dbSNP |
| X | g.108157265_108157269delinsAACAG | CA2450542005 | COL4A6 | c.4813-9_4813-5delinsCTGTT (n.4813-9_4813-5delinsCTGTT) c.4816-9_4816-5delinsCTGTT (n.4816-9_4816-5delinsCTGTT) c.4864-9_4864-5delinsCTGTT (n.4864-9_4864-5delinsCTGTT) c.4642-9_4642-5delinsCTGTT (n.4642-9_4642-5delinsCTGTT) c.4777-9_4777-5delinsCTGTT (n.4777-9_4777-5delinsCTGTT) c.4741-9_4741-5delinsCTGTT (n.4741-9_4741-5delinsCTGTT) c.4867-9_4867-5delinsCTGTT (n.4867-9_4867-5delinsCTGTT) c.4795-9_4795-5delinsCTGTT (n.4795-9_4795-5delinsCTGTT) c.4783-9_4783-5delinsCTGTT (n.4783-9_4783-5delinsCTGTT) | |
| X | g.108157270_108157273dup | CA2694429055 | COL4A6 | c.4813-9_4813-6dup (n.4813-9_4813-6dup) c.4816-9_4816-6dup (n.4816-9_4816-6dup) c.4864-9_4864-6dup (n.4864-9_4864-6dup) c.4642-9_4642-6dup (n.4642-9_4642-6dup) c.4777-9_4777-6dup (n.4777-9_4777-6dup) c.4741-9_4741-6dup (n.4741-9_4741-6dup) c.4867-9_4867-6dup (n.4867-9_4867-6dup) c.4795-9_4795-6dup (n.4795-9_4795-6dup) c.4783-9_4783-6dup (n.4783-9_4783-6dup) | gnomAD v4 |
| X | g.108157270_108157273del | CA10487106 | COL4A6 | c.4813-9_4813-6del (n.4813-9_4813-6del) c.4816-9_4816-6del (n.4816-9_4816-6del) c.4864-9_4864-6del (n.4864-9_4864-6del) c.4642-9_4642-6del (n.4642-9_4642-6del) c.4777-9_4777-6del (n.4777-9_4777-6del) c.4741-9_4741-6del (n.4741-9_4741-6del) c.4867-9_4867-6del (n.4867-9_4867-6del) c.4795-9_4795-6del (n.4795-9_4795-6del) c.4783-9_4783-6del (n.4783-9_4783-6del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157269G>C | CA2450542009 | COL4A6 | c.4813-9C>G (n.4813-9C>G) c.4816-9C>G (n.4816-9C>G) c.4864-9C>G (n.4864-9C>G) c.4642-9C>G (n.4642-9C>G) c.4777-9C>G (n.4777-9C>G) c.4741-9C>G (n.4741-9C>G) c.4867-9C>G (n.4867-9C>G) c.4795-9C>G (n.4795-9C>G) c.4783-9C>G (n.4783-9C>G) | dbSNP gnomAD v4 |
| X | g.108157269G= | CA2450542008 | COL4A6 | c.4813-9C= (n.4813-9C=) c.4816-9C= (n.4816-9C=) c.4864-9C= (n.4864-9C=) c.4642-9C= (n.4642-9C=) c.4777-9C= (n.4777-9C=) c.4741-9C= (n.4741-9C=) c.4867-9C= (n.4867-9C=) c.4795-9C= (n.4795-9C=) c.4783-9C= (n.4783-9C=) | |
| X | g.108157271C= | CA2450542011 | COL4A6 | c.4813-11G= (n.4813-11G=) c.4816-11G= (n.4816-11G=) c.4864-11G= (n.4864-11G=) c.4642-11G= (n.4642-11G=) c.4777-11G= (n.4777-11G=) c.4741-11G= (n.4741-11G=) c.4867-11G= (n.4867-11G=) c.4795-11G= (n.4795-11G=) c.4783-11G= (n.4783-11G=) | |
| X | g.108157271C>G | CA1136169931 | COL4A6 | c.4813-11G>C (n.4813-11G>C) c.4816-11G>C (n.4816-11G>C) c.4864-11G>C (n.4864-11G>C) c.4642-11G>C (n.4642-11G>C) c.4777-11G>C (n.4777-11G>C) c.4741-11G>C (n.4741-11G>C) c.4867-11G>C (n.4867-11G>C) c.4795-11G>C (n.4795-11G>C) c.4783-11G>C (n.4783-11G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157271C>T | CA644063398 | COL4A6 | c.4813-11G>A (n.4813-11G>A) c.4816-11G>A (n.4816-11G>A) c.4864-11G>A (n.4864-11G>A) c.4642-11G>A (n.4642-11G>A) c.4777-11G>A (n.4777-11G>A) c.4741-11G>A (n.4741-11G>A) c.4867-11G>A (n.4867-11G>A) c.4795-11G>A (n.4795-11G>A) c.4783-11G>A (n.4783-11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157271_108157274delinsCAGG | CA2450542010 | COL4A6 | c.4813-14_4813-11delinsCCTG (n.4813-14_4813-11delinsCCTG) c.4816-14_4816-11delinsCCTG (n.4816-14_4816-11delinsCCTG) c.4864-14_4864-11delinsCCTG (n.4864-14_4864-11delinsCCTG) c.4642-14_4642-11delinsCCTG (n.4642-14_4642-11delinsCCTG) c.4777-14_4777-11delinsCCTG (n.4777-14_4777-11delinsCCTG) c.4741-14_4741-11delinsCCTG (n.4741-14_4741-11delinsCCTG) c.4867-14_4867-11delinsCCTG (n.4867-14_4867-11delinsCCTG) c.4795-14_4795-11delinsCCTG (n.4795-14_4795-11delinsCCTG) c.4783-14_4783-11delinsCCTG (n.4783-14_4783-11delinsCCTG) | |
| X | g.108157272A= | CA2450542012 | COL4A6 | c.4813-12T= (n.4813-12T=) c.4816-12T= (n.4816-12T=) c.4864-12T= (n.4864-12T=) c.4642-12T= (n.4642-12T=) c.4777-12T= (n.4777-12T=) c.4741-12T= (n.4741-12T=) c.4867-12T= (n.4867-12T=) c.4795-12T= (n.4795-12T=) c.4783-12T= (n.4783-12T=) | |
| X | g.108157272A>G | CA644063399 | COL4A6 | c.4813-12T>C (n.4813-12T>C) c.4816-12T>C (n.4816-12T>C) c.4864-12T>C (n.4864-12T>C) c.4642-12T>C (n.4642-12T>C) c.4777-12T>C (n.4777-12T>C) c.4741-12T>C (n.4741-12T>C) c.4867-12T>C (n.4867-12T>C) c.4795-12T>C (n.4795-12T>C) c.4783-12T>C (n.4783-12T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157274_108157276del | CA10487107 | COL4A6 | c.4813-14_4813-12del (n.4813-14_4813-12del) c.4816-14_4816-12del (n.4816-14_4816-12del) c.4864-14_4864-12del (n.4864-14_4864-12del) c.4642-14_4642-12del (n.4642-14_4642-12del) c.4777-14_4777-12del (n.4777-14_4777-12del) c.4741-14_4741-12del (n.4741-14_4741-12del) c.4867-14_4867-12del (n.4867-14_4867-12del) c.4795-14_4795-12del (n.4795-14_4795-12del) c.4783-14_4783-12del (n.4783-14_4783-12del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157274G>T | CA2694429065 | COL4A6 | c.4813-14C>A (n.4813-14C>A) c.4816-14C>A (n.4816-14C>A) c.4864-14C>A (n.4864-14C>A) c.4642-14C>A (n.4642-14C>A) c.4777-14C>A (n.4777-14C>A) c.4741-14C>A (n.4741-14C>A) c.4867-14C>A (n.4867-14C>A) c.4795-14C>A (n.4795-14C>A) c.4783-14C>A (n.4783-14C>A) | gnomAD v4 |
| X | g.108157279T>C | CA2450542014 | COL4A6 | c.4813-19A>G (n.4813-19A>G) c.4816-19A>G (n.4816-19A>G) c.4864-19A>G (n.4864-19A>G) c.4642-19A>G (n.4642-19A>G) c.4777-19A>G (n.4777-19A>G) c.4741-19A>G (n.4741-19A>G) c.4867-19A>G (n.4867-19A>G) c.4795-19A>G (n.4795-19A>G) c.4783-19A>G (n.4783-19A>G) | dbSNP gnomAD v4 |
| X | g.108157279T= | CA2450542013 | COL4A6 | c.4813-19A= (n.4813-19A=) c.4816-19A= (n.4816-19A=) c.4864-19A= (n.4864-19A=) c.4642-19A= (n.4642-19A=) c.4777-19A= (n.4777-19A=) c.4741-19A= (n.4741-19A=) c.4867-19A= (n.4867-19A=) c.4795-19A= (n.4795-19A=) c.4783-19A= (n.4783-19A=) | |
| X | g.108157280A>G | CA2563548570 | COL4A6 | c.4813-20T>C (n.4813-20T>C) c.4816-20T>C (n.4816-20T>C) c.4864-20T>C (n.4864-20T>C) c.4642-20T>C (n.4642-20T>C) c.4777-20T>C (n.4777-20T>C) c.4741-20T>C (n.4741-20T>C) c.4867-20T>C (n.4867-20T>C) c.4795-20T>C (n.4795-20T>C) c.4783-20T>C (n.4783-20T>C) | |
| X | g.108157281G>C | CA2694429069 | COL4A6 | c.4813-21C>G (n.4813-21C>G) c.4816-21C>G (n.4816-21C>G) c.4864-21C>G (n.4864-21C>G) c.4642-21C>G (n.4642-21C>G) c.4777-21C>G (n.4777-21C>G) c.4741-21C>G (n.4741-21C>G) c.4867-21C>G (n.4867-21C>G) c.4795-21C>G (n.4795-21C>G) c.4783-21C>G (n.4783-21C>G) | gnomAD v4 |
| X | g.108157282T>C | CA2694429070 | COL4A6 | c.4813-22A>G (n.4813-22A>G) c.4816-22A>G (n.4816-22A>G) c.4864-22A>G (n.4864-22A>G) c.4642-22A>G (n.4642-22A>G) c.4777-22A>G (n.4777-22A>G) c.4741-22A>G (n.4741-22A>G) c.4867-22A>G (n.4867-22A>G) c.4795-22A>G (n.4795-22A>G) c.4783-22A>G (n.4783-22A>G) | gnomAD v4 |
| X | g.108157282T>G | CA2694429071 | COL4A6 | c.4813-22A>C (n.4813-22A>C) c.4816-22A>C (n.4816-22A>C) c.4864-22A>C (n.4864-22A>C) c.4642-22A>C (n.4642-22A>C) c.4777-22A>C (n.4777-22A>C) c.4741-22A>C (n.4741-22A>C) c.4867-22A>C (n.4867-22A>C) c.4795-22A>C (n.4795-22A>C) c.4783-22A>C (n.4783-22A>C) | gnomAD v4 |
| X | g.108157284C= | CA2450542015 | COL4A6 | c.4813-24G= (n.4813-24G=) c.4816-24G= (n.4816-24G=) c.4864-24G= (n.4864-24G=) c.4642-24G= (n.4642-24G=) c.4777-24G= (n.4777-24G=) c.4741-24G= (n.4741-24G=) c.4867-24G= (n.4867-24G=) c.4795-24G= (n.4795-24G=) c.4783-24G= (n.4783-24G=) | |
| X | g.108157284C>T | CA334033974 | COL4A6 | c.4813-24G>A (n.4813-24G>A) c.4816-24G>A (n.4816-24G>A) c.4864-24G>A (n.4864-24G>A) c.4642-24G>A (n.4642-24G>A) c.4777-24G>A (n.4777-24G>A) c.4741-24G>A (n.4741-24G>A) c.4867-24G>A (n.4867-24G>A) c.4795-24G>A (n.4795-24G>A) c.4783-24G>A (n.4783-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157285A= | CA2450542016 | COL4A6 | c.4813-25T= (n.4813-25T=) c.4816-25T= (n.4816-25T=) c.4864-25T= (n.4864-25T=) c.4642-25T= (n.4642-25T=) c.4777-25T= (n.4777-25T=) c.4741-25T= (n.4741-25T=) c.4867-25T= (n.4867-25T=) c.4795-25T= (n.4795-25T=) c.4783-25T= (n.4783-25T=) | |
| X | g.108157285A>G | CA869784661 | COL4A6 | c.4813-25T>C (n.4813-25T>C) c.4816-25T>C (n.4816-25T>C) c.4864-25T>C (n.4864-25T>C) c.4642-25T>C (n.4642-25T>C) c.4777-25T>C (n.4777-25T>C) c.4741-25T>C (n.4741-25T>C) c.4867-25T>C (n.4867-25T>C) c.4795-25T>C (n.4795-25T>C) c.4783-25T>C (n.4783-25T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157285A>T | CA2694429072 | COL4A6 | c.4813-25T>A (n.4813-25T>A) c.4816-25T>A (n.4816-25T>A) c.4864-25T>A (n.4864-25T>A) c.4642-25T>A (n.4642-25T>A) c.4777-25T>A (n.4777-25T>A) c.4741-25T>A (n.4741-25T>A) c.4867-25T>A (n.4867-25T>A) c.4795-25T>A (n.4795-25T>A) c.4783-25T>A (n.4783-25T>A) | gnomAD v4 |
| X | g.108157286T>C | CA2694429074 | COL4A6 | c.4813-26A>G (n.4813-26A>G) c.4816-26A>G (n.4816-26A>G) c.4864-26A>G (n.4864-26A>G) c.4642-26A>G (n.4642-26A>G) c.4777-26A>G (n.4777-26A>G) c.4741-26A>G (n.4741-26A>G) c.4867-26A>G (n.4867-26A>G) c.4795-26A>G (n.4795-26A>G) c.4783-26A>G (n.4783-26A>G) | gnomAD v4 |
| X | g.108157286T>G | CA2579674569 | COL4A6 | c.4813-26A>C (n.4813-26A>C) c.4816-26A>C (n.4816-26A>C) c.4864-26A>C (n.4864-26A>C) c.4642-26A>C (n.4642-26A>C) c.4777-26A>C (n.4777-26A>C) c.4741-26A>C (n.4741-26A>C) c.4867-26A>C (n.4867-26A>C) c.4795-26A>C (n.4795-26A>C) c.4783-26A>C (n.4783-26A>C) | gnomAD v4 |
| X | g.108157287G>A | CA2579674570 | COL4A6 | c.4813-27C>T (n.4813-27C>T) c.4816-27C>T (n.4816-27C>T) c.4864-27C>T (n.4864-27C>T) c.4642-27C>T (n.4642-27C>T) c.4777-27C>T (n.4777-27C>T) c.4741-27C>T (n.4741-27C>T) c.4867-27C>T (n.4867-27C>T) c.4795-27C>T (n.4795-27C>T) c.4783-27C>T (n.4783-27C>T) | gnomAD v4 |
| X | g.108157287G>C | CA1136169955 | COL4A6 | c.4813-27C>G (n.4813-27C>G) c.4816-27C>G (n.4816-27C>G) c.4864-27C>G (n.4864-27C>G) c.4642-27C>G (n.4642-27C>G) c.4777-27C>G (n.4777-27C>G) c.4741-27C>G (n.4741-27C>G) c.4867-27C>G (n.4867-27C>G) c.4795-27C>G (n.4795-27C>G) c.4783-27C>G (n.4783-27C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157287G= | CA2450542017 | COL4A6 | c.4813-27C= (n.4813-27C=) c.4816-27C= (n.4816-27C=) c.4864-27C= (n.4864-27C=) c.4642-27C= (n.4642-27C=) c.4777-27C= (n.4777-27C=) c.4741-27C= (n.4741-27C=) c.4867-27C= (n.4867-27C=) c.4795-27C= (n.4795-27C=) c.4783-27C= (n.4783-27C=) | |
| X | g.108157288A= | CA2450542019 | COL4A6 | c.4813-28T= (n.4813-28T=) c.4816-28T= (n.4816-28T=) c.4864-28T= (n.4864-28T=) c.4642-28T= (n.4642-28T=) c.4777-28T= (n.4777-28T=) c.4741-28T= (n.4741-28T=) c.4867-28T= (n.4867-28T=) c.4795-28T= (n.4795-28T=) c.4783-28T= (n.4783-28T=) | |
| X | g.108157288A>T | CA2450542018 | COL4A6 | c.4813-28T>A (n.4813-28T>A) c.4816-28T>A (n.4816-28T>A) c.4864-28T>A (n.4864-28T>A) c.4642-28T>A (n.4642-28T>A) c.4777-28T>A (n.4777-28T>A) c.4741-28T>A (n.4741-28T>A) c.4867-28T>A (n.4867-28T>A) c.4795-28T>A (n.4795-28T>A) c.4783-28T>A (n.4783-28T>A) | dbSNP gnomAD v4 |
| X | g.108157289G>A | CA2694429077 | COL4A6 | c.4813-29C>T (n.4813-29C>T) c.4816-29C>T (n.4816-29C>T) c.4864-29C>T (n.4864-29C>T) c.4642-29C>T (n.4642-29C>T) c.4777-29C>T (n.4777-29C>T) c.4741-29C>T (n.4741-29C>T) c.4867-29C>T (n.4867-29C>T) c.4795-29C>T (n.4795-29C>T) c.4783-29C>T (n.4783-29C>T) | gnomAD v4 |
| X | g.108157289G>T | CA2694429078 | COL4A6 | c.4813-29C>A (n.4813-29C>A) c.4816-29C>A (n.4816-29C>A) c.4864-29C>A (n.4864-29C>A) c.4642-29C>A (n.4642-29C>A) c.4777-29C>A (n.4777-29C>A) c.4741-29C>A (n.4741-29C>A) c.4867-29C>A (n.4867-29C>A) c.4795-29C>A (n.4795-29C>A) c.4783-29C>A (n.4783-29C>A) | gnomAD v4 |
| X | g.108157290C>A | CA2822887522 | COL4A6 | c.4813-30G>T (n.4813-30G>T) c.4816-30G>T (n.4816-30G>T) c.4864-30G>T (n.4864-30G>T) c.4642-30G>T (n.4642-30G>T) c.4777-30G>T (n.4777-30G>T) c.4741-30G>T (n.4741-30G>T) c.4867-30G>T (n.4867-30G>T) c.4795-30G>T (n.4795-30G>T) c.4783-30G>T (n.4783-30G>T) | |
| X | g.108157295C>A | CA2694429081 | COL4A6 | c.4813-35G>T (n.4813-35G>T) c.4816-35G>T (n.4816-35G>T) c.4864-35G>T (n.4864-35G>T) c.4642-35G>T (n.4642-35G>T) c.4777-35G>T (n.4777-35G>T) c.4741-35G>T (n.4741-35G>T) c.4867-35G>T (n.4867-35G>T) c.4795-35G>T (n.4795-35G>T) c.4783-35G>T (n.4783-35G>T) | gnomAD v4 |
| X | g.108157295C>G | CA2694429082 | COL4A6 | c.4813-35G>C (n.4813-35G>C) c.4816-35G>C (n.4816-35G>C) c.4864-35G>C (n.4864-35G>C) c.4642-35G>C (n.4642-35G>C) c.4777-35G>C (n.4777-35G>C) c.4741-35G>C (n.4741-35G>C) c.4867-35G>C (n.4867-35G>C) c.4795-35G>C (n.4795-35G>C) c.4783-35G>C (n.4783-35G>C) | gnomAD v4 |
| X | g.108157296C= | CA2450542020 | COL4A6 | c.4813-36G= (n.4813-36G=) c.4816-36G= (n.4816-36G=) c.4864-36G= (n.4864-36G=) c.4642-36G= (n.4642-36G=) c.4777-36G= (n.4777-36G=) c.4741-36G= (n.4741-36G=) c.4867-36G= (n.4867-36G=) c.4795-36G= (n.4795-36G=) c.4783-36G= (n.4783-36G=) | |
| X | g.108157296C>T | CA644063400 | COL4A6 | c.4813-36G>A (n.4813-36G>A) c.4816-36G>A (n.4816-36G>A) c.4864-36G>A (n.4864-36G>A) c.4642-36G>A (n.4642-36G>A) c.4777-36G>A (n.4777-36G>A) c.4741-36G>A (n.4741-36G>A) c.4867-36G>A (n.4867-36G>A) c.4795-36G>A (n.4795-36G>A) c.4783-36G>A (n.4783-36G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157298G>A | CA2694429084 | COL4A6 | c.4813-38C>T (n.4813-38C>T) c.4816-38C>T (n.4816-38C>T) c.4864-38C>T (n.4864-38C>T) c.4642-38C>T (n.4642-38C>T) c.4777-38C>T (n.4777-38C>T) c.4741-38C>T (n.4741-38C>T) c.4867-38C>T (n.4867-38C>T) c.4795-38C>T (n.4795-38C>T) c.4783-38C>T (n.4783-38C>T) | gnomAD v4 |
| X | g.108157298G= | CA2450542021 | COL4A6 | c.4813-38C= (n.4813-38C=) c.4816-38C= (n.4816-38C=) c.4864-38C= (n.4864-38C=) c.4642-38C= (n.4642-38C=) c.4777-38C= (n.4777-38C=) c.4741-38C= (n.4741-38C=) c.4867-38C= (n.4867-38C=) c.4795-38C= (n.4795-38C=) c.4783-38C= (n.4783-38C=) | |
| X | g.108157298G>T | CA644063401 | COL4A6 | c.4813-38C>A (n.4813-38C>A) c.4816-38C>A (n.4816-38C>A) c.4864-38C>A (n.4864-38C>A) c.4642-38C>A (n.4642-38C>A) c.4777-38C>A (n.4777-38C>A) c.4741-38C>A (n.4741-38C>A) c.4867-38C>A (n.4867-38C>A) c.4795-38C>A (n.4795-38C>A) c.4783-38C>A (n.4783-38C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |