OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108156955_108156957dup | CA1136174487 | COL4A6 | c.*46_*48dup (n.*46_*48dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108156953G>A | CA2694428784 | COL4A6 | c.*47C>T (n.*47C>T) | gnomAD v4 |
| X | g.108156954T>C | CA2694428785 | COL4A6 | c.*46A>G (n.*46A>G) | gnomAD v4 |
| X | g.108156955T= | CA2450541903 | COL4A6 | c.*45A= (n.*45A=) | |
| X | g.108156955_108156960delinsTGTGAG | CA2450541902 | COL4A6 | c.*40_*45delinsCTCACA (n.*40_*45delinsCTCACA) | |
| X | g.108156956G>A | CA2694428787 | COL4A6 | c.*44C>T (n.*44C>T) | gnomAD v4 |
| X | g.108156956G>T | CA2694428786 | COL4A6 | c.*44C>A (n.*44C>A) | gnomAD v4 |
| X | g.108156956dup | CA644063432 | COL4A6 | c.*44dup (n.*44dup) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108156957_108156961del | CA869784141 | COL4A6 | c.*40_*44del (n.*40_*44del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108156958G>T | CA2694428788 | COL4A6 | c.*42C>A (n.*42C>A) | gnomAD v4 |
| X | g.108156967_108156983del | CA2694428789 | COL4A6 | c.*25_*41del (n.*25_*41del) | gnomAD v4 |
| X | g.108156960G>A | CA10487055 | COL4A6 | c.*40C>T (n.*40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108156960G= | CA2450541904 | COL4A6 | c.*40C= (n.*40C=) | |
| X | g.108156960G>T | CA2694428790 | COL4A6 | c.*40C>A (n.*40C>A) | gnomAD v4 |
| X | g.108156963del | CA2579674555 | COL4A6 | c.*40del (n.*40del) | |
| X | g.108156961G>A | CA2694428792 | COL4A6 | c.*39C>T (n.*39C>T) | gnomAD v4 |
| X | g.108156961G>C | CA10487056 | COL4A6 | c.*39C>G (n.*39C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156961G= | CA2450541905 | COL4A6 | c.*39C= (n.*39C=) | |
| X | g.108156961G>T | CA2579674556 | COL4A6 | c.*39C>A (n.*39C>A) | gnomAD v4 |
| X | g.108156966_108156975del | CA2694428791 | COL4A6 | c.*30_*39del (n.*30_*39del) | gnomAD v4 |
| X | g.108156962G>A | CA2694428793 | COL4A6 | c.*38C>T (n.*38C>T) | gnomAD v4 |
| X | g.108156962G>T | CA2579674557 | COL4A6 | c.*38C>A (n.*38C>A) | gnomAD v4 |
| X | g.108156963G>T | CA2579674558 | COL4A6 | c.*37C>A (n.*37C>A) | gnomAD v4 |
| X | g.108156964C>T | CA2579674559 | COL4A6 | c.*36G>A (n.*36G>A) | |
| X | g.108156966G>T | CA2694428794 | COL4A6 | c.*34C>A (n.*34C>A) | gnomAD v4 |
| X | g.108156967G>T | CA2694428795 | COL4A6 | c.*33C>A (n.*33C>A) | gnomAD v4 |
| X | g.108156968G>A | CA10487058 | COL4A6 | c.*32C>T (n.*32C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108156968G= | CA2450541906 | COL4A6 | c.*32C= (n.*32C=) | |
| X | g.108156968G>T | CA10487057 | COL4A6 | c.*32C>A (n.*32C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108156969G>A | CA10487059 | COL4A6 | c.*31C>T (n.*31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156969G= | CA2450541907 | COL4A6 | c.*31C= (n.*31C=) | |
| X | g.108156969G>T | CA2694428796 | COL4A6 | c.*31C>A (n.*31C>A) | gnomAD v4 |
| X | g.108156971G>A | CA644063433 | COL4A6 | c.*29C>T (n.*29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156971G= | CA2450541908 | COL4A6 | c.*29C= (n.*29C=) | |
| X | g.108156971G>T | CA2573021343 | COL4A6 | c.*29C>A (n.*29C>A) | gnomAD v4 |
| X | g.108156972G>A | CA10487060 | COL4A6 | c.*28C>T (n.*28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108156972G= | CA2450541909 | COL4A6 | c.*28C= (n.*28C=) | |
| X | g.108156973G>A | CA2694428798 | COL4A6 | c.*27C>T (n.*27C>T) | gnomAD v4 |
| X | g.108156973G>T | CA2694428799 | COL4A6 | c.*27C>A (n.*27C>A) | gnomAD v4 |
| X | g.108156975A>G | CA2694428800 | COL4A6 | c.*25T>C (n.*25T>C) | gnomAD v4 |
| X | g.108156976A= | CA2450541911 | COL4A6 | c.*24T= (n.*24T=) | |
| X | g.108156976A>C | CA10487061 | COL4A6 | c.*24T>G (n.*24T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156976A>T | CA2579674560 | COL4A6 | c.*24T>A (n.*24T>A) | |
| X | g.108156976_108156977delinsAG | CA2450541912 | COL4A6 | c.*23_*24delinsCT (n.*23_*24delinsCT) | |
| X | g.108156976_108156991delinsAGGGGCAGAGTGGCAG | CA2450541910 | COL4A6 | c.*9_*24delinsCTGCCACTCTGCCCCT (n.*9_*24delinsCTGCCACTCTGCCCCT) | |
| X | g.108156977G>T | CA2579674561 | COL4A6 | c.*23C>A (n.*23C>A) | |
| X | g.108156980del | CA10487062 | COL4A6 | c.*23del (n.*23del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108156978_108156992del | CA644063434 | COL4A6 | c.*9_*23del (n.*9_*23del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156978G>A | CA869784155 | COL4A6 | c.*22C>T (n.*22C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108156978G= | CA2450541913 | COL4A6 | c.*22C= (n.*22C=) | |
| X | g.108156980G>A | CA2450541915 | COL4A6 | c.*20C>T (n.*20C>T) | dbSNP gnomAD v4 |
| X | g.108156980G= | CA2450541914 | COL4A6 | c.*20C= (n.*20C=) | |
| X | g.108156980G>T | CA2694428801 | COL4A6 | c.*20C>A (n.*20C>A) | gnomAD v4 |
| X | g.108156981C>T | CA2694428802 | COL4A6 | c.*19G>A (n.*19G>A) | gnomAD v4 |
| X | g.108156982A>G | CA2694428803 | COL4A6 | c.*18T>C (n.*18T>C) | gnomAD v4 |
| X | g.108156983G>A | CA334033868 | COL4A6 | c.*17C>T (n.*17C>T) | dbSNP gnomAD v2 |
| X | g.108156983G= | CA2450541916 | COL4A6 | c.*17C= (n.*17C=) | |
| X | g.108156984A>G | CA2579674562 | COL4A6 | c.*16T>C (n.*16T>C) | |
| X | g.108156986T>A | CA644063436 | COL4A6 | c.*14A>T (n.*14A>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108156986T>C | CA2579674563 | COL4A6 | c.*14A>G (n.*14A>G) | |
| X | g.108156986T= | CA2450541917 | COL4A6 | c.*14A= (n.*14A=) | |
| X | g.108156987G>A | CA10487063 | COL4A6 | c.*13C>T (n.*13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156987G= | CA2450541918 | COL4A6 | c.*13C= (n.*13C=) | |
| X | g.108156987G>T | CA2694428804 | COL4A6 | c.*13C>A (n.*13C>A) | gnomAD v4 |
| X | g.108156988_108156989dup | CA2822887518 | COL4A6 | c.*11_*12dup (n.*11_*12dup) | |
| X | g.108156989C>A | CA2694428805 | COL4A6 | c.*11G>T (n.*11G>T) | gnomAD v4 |
| X | g.108156991_108156997del | CA2694428806 | COL4A6 | c.*5_*11del (n.*5_*11del) | gnomAD v4 |
| X | g.108156989_108156990insGCATAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCTGGTAGCATTACCTGCTTCTATCTCATAATATTTTAAGCACAT | CA2822887519 | COL4A6 | c.*10_*11insATGTGCTTAAAATATTATGAGATAGAAGCAGGTAATGCTACCAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTATGC (n.*10_*11insATGTGCTTAAAATATTATGAGATAGAAGCAGGTAATGCTACCAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTATGC) | |
| X | g.108156989_108156990insGCATAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCTGGTAGCATTACCTGCTTCTATCTCATAATATTTTAAGCACATAGTCTGTTTTATA | CA2569986063 | COL4A6 | c.*10_*11insTATAAAACAGACTATGTGCTTAAAATATTATGAGATAGAAGCAGGTAATGCTACCAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTATGC (n.*10_*11insTATAAAACAGACTATGTGCTTAAAATATTATGAGATAGAAGCAGGTAATGCTACCAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTATGC) | |
| X | g.108156989_108156990insGCATAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCTGGTAGCATTACCTGCTTCTATCTCATAATATTTTAAGCACATAGTCTGTTTTATAAGCCTGACCTTGTGATTAACTTTTTGCCAACTA | CA2525192935 | COL4A6 | c.*10_*11insTAGTTGGCAAAAAGTTAATCACAAGGTCAGGCTTATAAAACAGACTATGTGCTTAAAATATTATGAGATAGAAGCAGGTAATGCTACCAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTATGC (n.*10_*11insTAGTTGGCAAAAAGTTAATCACAAGGTCAGGCTTATAAAACAGACTATGTGCTTAAAATATTATGAGATAGAAGCAGGTAATGCTACCAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTATGC) | |
| X | g.108156990A= | CA2450541919 | COL4A6 | c.*10T= (n.*10T=) | |
| X | g.108156990A>G | CA2694428807 | COL4A6 | c.*10T>C (n.*10T>C) | gnomAD v4 |
| X | g.108156990_108156991insTAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCT | CA2822887520 | COL4A6 | c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA (n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA) | |
| X | g.108156991G>A | CA10487065 | COL4A6 | c.*9C>T (n.*9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156991G>C | CA2579674564 | COL4A6 | c.*9C>G (n.*9C>G) | |
| X | g.108156991G= | CA2450541920 | COL4A6 | c.*9C= (n.*9C=) | |
| X | g.108156991G>T | CA2694428808 | COL4A6 | c.*9C>A (n.*9C>A) | gnomAD v4 |
| X | g.108156992dup | CA10487064 | COL4A6 | c.*9dup (n.*9dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108156992G>C | CA2579674565 | COL4A6 | c.*8C>G (n.*8C>G) | |
| X | g.108156993T>A | CA644063439 | COL4A6 | c.*7A>T (n.*7A>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108156993T>C | CA2579674566 | COL4A6 | c.*7A>G (n.*7A>G) | |
| X | g.108156993T>G | CA10487066 | COL4A6 | c.*7A>C (n.*7A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156993T= | CA2450541921 | COL4A6 | c.*7A= (n.*7A=) | |
| X | g.108156997_108157052dup | CA2694428809 | COL4A6 | c.5025_*7dup (n.5025_*7dup) c.5028_*7dup (n.5028_*7dup) c.5076_*7dup (n.5076_*7dup) c.4854_*7dup (n.4854_*7dup) c.4989_*7dup (n.4989_*7dup) c.4953_*7dup (n.4953_*7dup) c.5079_*7dup (n.5079_*7dup) c.5007_*7dup (n.5007_*7dup) c.4995_*7dup (n.4995_*7dup) | gnomAD v4 |
| X | g.108156995C>A | CA644063440 | COL4A6 | c.*5G>T (n.*5G>T) | dbSNP gnomAD v2 |
| X | g.108156995C= | CA2450541922 | COL4A6 | c.*5G= (n.*5G=) | |
| X | g.108156995C>G | CA10487067 | COL4A6 | c.*5G>C (n.*5G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156995C>T | CA2694428812 | COL4A6 | c.*5G>A (n.*5G>A) | gnomAD v4 |
| X | g.108156996C>A | CA658420180 | COL4A6 | c.*4G>T (n.*4G>T) | dbSNP gnomAD v4 COSMIC |
| X | g.108156996C= | CA2450541923 | COL4A6 | c.*4G= (n.*4G=) | |
| X | g.108156997A= | CA2450541924 | COL4A6 | c.*3T= (n.*3T=) | |
| X | g.108156997A>C | CA10487068 | COL4A6 | c.*3T>G (n.*3T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108156997A>G | CA644063442 | COL4A6 | c.*3T>C (n.*3T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108156998C>A | CA2450541926 | COL4A6 | c.*2G>T (n.*2G>T) | dbSNP gnomAD v4 |
| X | g.108156998C= | CA2450541925 | COL4A6 | c.*2G= (n.*2G=) | |
| X | g.108156999C>A | CA2550785684 | COL4A6 | c.*1G>T (n.*1G>T) | |
| X | g.108156999C>T | CA2579674567 | COL4A6 | c.*1G>A (n.*1G>A) | |
| X | g.108157000C>A | CA413847803 | COL4A6 | c.5073G>T (p.Ter1691Tyr) c.5076G>T (p.Ter1692Tyr) c.5124G>T (p.Ter1708Tyr) c.4902G>T (p.Ter1634Tyr) c.5037G>T (p.Ter1679Tyr) c.5001G>T (p.Ter1667Tyr) c.5127G>T (p.Ter1709Tyr) c.5055G>T (p.Ter1685Tyr) c.5043G>T (p.Ter1681Tyr) | |
| X | g.108157000C>G | CA413847804 | COL4A6 | c.5073G>C (p.Ter1691Tyr) c.5076G>C (p.Ter1692Tyr) c.5124G>C (p.Ter1708Tyr) c.4902G>C (p.Ter1634Tyr) c.5037G>C (p.Ter1679Tyr) c.5001G>C (p.Ter1667Tyr) c.5127G>C (p.Ter1709Tyr) c.5055G>C (p.Ter1685Tyr) c.5043G>C (p.Ter1681Tyr) | |
| X | g.108157000C>T | CA518100542 | COL4A6 | c.5073G>A (p.Ter1691=) c.5076G>A (p.Ter1692=) c.5124G>A (p.Ter1708=) c.4902G>A (p.Ter1634=) c.5037G>A (p.Ter1679=) c.5001G>A (p.Ter1667=) c.5127G>A (p.Ter1709=) c.5055G>A (p.Ter1685=) c.5043G>A (p.Ter1681=) | |
| X | g.108157001T>A | CA413847809 | COL4A6 | c.5072A>T (p.Ter1691Leu) c.5075A>T (p.Ter1692Leu) c.5123A>T (p.Ter1708Leu) c.4901A>T (p.Ter1634Leu) c.5036A>T (p.Ter1679Leu) c.5000A>T (p.Ter1667Leu) c.5126A>T (p.Ter1709Leu) c.5054A>T (p.Ter1685Leu) c.5042A>T (p.Ter1681Leu) | |
| X | g.108157001T>C | CA10487069 | COL4A6 | c.5072A>G (p.Ter1691Trp) c.5075A>G (p.Ter1692Trp) c.5123A>G (p.Ter1708Trp) c.4901A>G (p.Ter1634Trp) c.5036A>G (p.Ter1679Trp) c.5000A>G (p.Ter1667Trp) c.5126A>G (p.Ter1709Trp) c.5054A>G (p.Ter1685Trp) c.5042A>G (p.Ter1681Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157001T>G | CA413847807 | COL4A6 | c.5072A>C (p.Ter1691Ser) c.5075A>C (p.Ter1692Ser) c.5123A>C (p.Ter1708Ser) c.4901A>C (p.Ter1634Ser) c.5036A>C (p.Ter1679Ser) c.5000A>C (p.Ter1667Ser) c.5126A>C (p.Ter1709Ser) c.5054A>C (p.Ter1685Ser) c.5042A>C (p.Ter1681Ser) | |
| X | g.108157001T= | CA2450541927 | COL4A6 | c.5072A= (p.Ter1691=) c.5075A= (p.Ter1692=) c.5123A= (p.Ter1708=) c.4901A= (p.Ter1634=) c.5036A= (p.Ter1679=) c.5000A= (p.Ter1667=) c.5126A= (p.Ter1709=) c.5054A= (p.Ter1685=) c.5042A= (p.Ter1681=) | |
| X | g.108157002A= | CA2450541928 | COL4A6 | c.5071T= (p.Ter1691=) c.5074T= (p.Ter1692=) c.5122T= (p.Ter1708=) c.4900T= (p.Ter1634=) c.5035T= (p.Ter1679=) c.4999T= (p.Ter1667=) c.5125T= (p.Ter1709=) c.5053T= (p.Ter1685=) c.5041T= (p.Ter1681=) | |
| X | g.108157002A>C | CA236362 | COL4A6 | c.5071T>G (p.Ter1691Glu) c.5074T>G (p.Ter1692Glu) c.5122T>G (p.Ter1708Glu) c.4900T>G (p.Ter1634Glu) c.5035T>G (p.Ter1679Glu) c.4999T>G (p.Ter1667Glu) c.5125T>G (p.Ter1709Glu) c.5053T>G (p.Ter1685Glu) c.5041T>G (p.Ter1681Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157002A>G | CA413847813 | COL4A6 | c.5071T>C (p.Ter1691Gln) c.5074T>C (p.Ter1692Gln) c.5122T>C (p.Ter1708Gln) c.4900T>C (p.Ter1634Gln) c.5035T>C (p.Ter1679Gln) c.4999T>C (p.Ter1667Gln) c.5125T>C (p.Ter1709Gln) c.5053T>C (p.Ter1685Gln) c.5041T>C (p.Ter1681Gln) | |
| X | g.108157002A>T | CA413847814 | COL4A6 | c.5071T>A (p.Ter1691Lys) c.5074T>A (p.Ter1692Lys) c.5122T>A (p.Ter1708Lys) c.4900T>A (p.Ter1634Lys) c.5035T>A (p.Ter1679Lys) c.4999T>A (p.Ter1667Lys) c.5125T>A (p.Ter1709Lys) c.5053T>A (p.Ter1685Lys) c.5041T>A (p.Ter1681Lys) | |
| X | g.108157003C>A | CA518100549 | COL4A6 | c.5070G>T (p.Leu1690=) c.5073G>T (p.Leu1691=) c.5121G>T (p.Leu1707=) c.4899G>T (p.Leu1633=) c.5034G>T (p.Leu1678=) c.4998G>T (p.Leu1666=) c.5124G>T (p.Leu1708=) c.5052G>T (p.Leu1684=) c.5040G>T (p.Leu1680=) | gnomAD v4 |
| X | g.108157003C>G | CA518100548 | COL4A6 | c.5070G>C (p.Leu1690=) c.5073G>C (p.Leu1691=) c.5121G>C (p.Leu1707=) c.4899G>C (p.Leu1633=) c.5034G>C (p.Leu1678=) c.4998G>C (p.Leu1666=) c.5124G>C (p.Leu1708=) c.5052G>C (p.Leu1684=) c.5040G>C (p.Leu1680=) | |
| X | g.108157003C>T | CA518100546 | COL4A6 | c.5070G>A (p.Leu1690=) c.5073G>A (p.Leu1691=) c.5121G>A (p.Leu1707=) c.4899G>A (p.Leu1633=) c.5034G>A (p.Leu1678=) c.4998G>A (p.Leu1666=) c.5124G>A (p.Leu1708=) c.5052G>A (p.Leu1684=) c.5040G>A (p.Leu1680=) | |
| X | g.108157004A= | CA2450541929 | COL4A6 | c.5069T= (p.Leu1690=) c.5072T= (p.Leu1691=) c.5120T= (p.Leu1707=) c.4898T= (p.Leu1633=) c.5033T= (p.Leu1678=) c.4997T= (p.Leu1666=) c.5123T= (p.Leu1708=) c.5051T= (p.Leu1684=) c.5039T= (p.Leu1680=) | |
| X | g.108157004A>C | CA413847816 | COL4A6 | c.5069T>G (p.Leu1690Arg) c.5072T>G (p.Leu1691Arg) c.5120T>G (p.Leu1707Arg) c.4898T>G (p.Leu1633Arg) c.5033T>G (p.Leu1678Arg) c.4997T>G (p.Leu1666Arg) c.5123T>G (p.Leu1708Arg) c.5051T>G (p.Leu1684Arg) c.5039T>G (p.Leu1680Arg) | |
| X | g.108157004A>G | CA334033882 | COL4A6 | c.5069T>C (p.Leu1690Pro) c.5072T>C (p.Leu1691Pro) c.5120T>C (p.Leu1707Pro) c.4898T>C (p.Leu1633Pro) c.5033T>C (p.Leu1678Pro) c.4997T>C (p.Leu1666Pro) c.5123T>C (p.Leu1708Pro) c.5051T>C (p.Leu1684Pro) c.5039T>C (p.Leu1680Pro) | dbSNP |
| X | g.108157004A>T | CA413847819 | COL4A6 | c.5069T>A (p.Leu1690Gln) c.5072T>A (p.Leu1691Gln) c.5120T>A (p.Leu1707Gln) c.4898T>A (p.Leu1633Gln) c.5033T>A (p.Leu1678Gln) c.4997T>A (p.Leu1666Gln) c.5123T>A (p.Leu1708Gln) c.5051T>A (p.Leu1684Gln) c.5039T>A (p.Leu1680Gln) | |
| X | g.108157005G>A | CA518100553 | COL4A6 | c.5068C>T (p.Leu1690=) c.5071C>T (p.Leu1691=) c.5119C>T (p.Leu1707=) c.4897C>T (p.Leu1633=) c.5032C>T (p.Leu1678=) c.4996C>T (p.Leu1666=) c.5122C>T (p.Leu1708=) c.5050C>T (p.Leu1684=) c.5038C>T (p.Leu1680=) | |
| X | g.108157005G>C | CA413847820 | COL4A6 | c.5068C>G (p.Leu1690Val) c.5071C>G (p.Leu1691Val) c.5119C>G (p.Leu1707Val) c.4897C>G (p.Leu1633Val) c.5032C>G (p.Leu1678Val) c.4996C>G (p.Leu1666Val) c.5122C>G (p.Leu1708Val) c.5050C>G (p.Leu1684Val) c.5038C>G (p.Leu1680Val) | |
| X | g.108157005G>T | CA413847821 | COL4A6 | c.5068C>A (p.Leu1690Met) c.5071C>A (p.Leu1691Met) c.5119C>A (p.Leu1707Met) c.4897C>A (p.Leu1633Met) c.5032C>A (p.Leu1678Met) c.4996C>A (p.Leu1666Met) c.5122C>A (p.Leu1708Met) c.5050C>A (p.Leu1684Met) c.5038C>A (p.Leu1680Met) | |
| X | g.108157006G>A | CA518100555 | COL4A6 | c.5067C>T (p.Ser1689=) c.5070C>T (p.Ser1690=) c.5118C>T (p.Ser1706=) c.4896C>T (p.Ser1632=) c.5031C>T (p.Ser1677=) c.4995C>T (p.Ser1665=) c.5121C>T (p.Ser1707=) c.5049C>T (p.Ser1683=) c.5037C>T (p.Ser1679=) | dbSNP |
| X | g.108157006G>C | CA413847822 | COL4A6 | c.5067C>G (p.Ser1689Arg) c.5070C>G (p.Ser1690Arg) c.5118C>G (p.Ser1706Arg) c.4896C>G (p.Ser1632Arg) c.5031C>G (p.Ser1677Arg) c.4995C>G (p.Ser1665Arg) c.5121C>G (p.Ser1707Arg) c.5049C>G (p.Ser1683Arg) c.5037C>G (p.Ser1679Arg) | |
| X | g.108157006G= | CA2450541930 | COL4A6 | c.5067C= (p.Ser1689=) c.5070C= (p.Ser1690=) c.5118C= (p.Ser1706=) c.4896C= (p.Ser1632=) c.5031C= (p.Ser1677=) c.4995C= (p.Ser1665=) c.5121C= (p.Ser1707=) c.5049C= (p.Ser1683=) c.5037C= (p.Ser1679=) | |
| X | g.108157006G>T | CA10487070 | COL4A6 | c.5067C>A (p.Ser1689Arg) c.5070C>A (p.Ser1690Arg) c.5118C>A (p.Ser1706Arg) c.4896C>A (p.Ser1632Arg) c.5031C>A (p.Ser1677Arg) c.4995C>A (p.Ser1665Arg) c.5121C>A (p.Ser1707Arg) c.5049C>A (p.Ser1683Arg) c.5037C>A (p.Ser1679Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157007C>A | CA413847825 | COL4A6 | c.5066G>T (p.Ser1689Ile) c.5069G>T (p.Ser1690Ile) c.5117G>T (p.Ser1706Ile) c.4895G>T (p.Ser1632Ile) c.5030G>T (p.Ser1677Ile) c.4994G>T (p.Ser1665Ile) c.5120G>T (p.Ser1707Ile) c.5048G>T (p.Ser1683Ile) c.5036G>T (p.Ser1679Ile) | |
| X | g.108157007C>G | CA413847827 | COL4A6 | c.5066G>C (p.Ser1689Thr) c.5069G>C (p.Ser1690Thr) c.5117G>C (p.Ser1706Thr) c.4895G>C (p.Ser1632Thr) c.5030G>C (p.Ser1677Thr) c.4994G>C (p.Ser1665Thr) c.5120G>C (p.Ser1707Thr) c.5048G>C (p.Ser1683Thr) c.5036G>C (p.Ser1679Thr) | |
| X | g.108157007C>T | CA413847828 | COL4A6 | c.5066G>A (p.Ser1689Asn) c.5069G>A (p.Ser1690Asn) c.5117G>A (p.Ser1706Asn) c.4895G>A (p.Ser1632Asn) c.5030G>A (p.Ser1677Asn) c.4994G>A (p.Ser1665Asn) c.5120G>A (p.Ser1707Asn) c.5048G>A (p.Ser1683Asn) c.5036G>A (p.Ser1679Asn) | |
| X | g.108157008T>A | CA413847830 | COL4A6 | c.5065A>T (p.Ser1689Cys) c.5068A>T (p.Ser1690Cys) c.5116A>T (p.Ser1706Cys) c.4894A>T (p.Ser1632Cys) c.5029A>T (p.Ser1677Cys) c.4993A>T (p.Ser1665Cys) c.5119A>T (p.Ser1707Cys) c.5047A>T (p.Ser1683Cys) c.5035A>T (p.Ser1679Cys) | |
| X | g.108157008T>C | CA413847833 | COL4A6 | c.5065A>G (p.Ser1689Gly) c.5068A>G (p.Ser1690Gly) c.5116A>G (p.Ser1706Gly) c.4894A>G (p.Ser1632Gly) c.5029A>G (p.Ser1677Gly) c.4993A>G (p.Ser1665Gly) c.5119A>G (p.Ser1707Gly) c.5047A>G (p.Ser1683Gly) c.5035A>G (p.Ser1679Gly) | |
| X | g.108157008T>G | CA413847832 | COL4A6 | c.5065A>C (p.Ser1689Arg) c.5068A>C (p.Ser1690Arg) c.5116A>C (p.Ser1706Arg) c.4894A>C (p.Ser1632Arg) c.5029A>C (p.Ser1677Arg) c.4993A>C (p.Ser1665Arg) c.5119A>C (p.Ser1707Arg) c.5047A>C (p.Ser1683Arg) c.5035A>C (p.Ser1679Arg) | |
| X | g.108157009T>A | CA413847835 | COL4A6 | c.5064A>T (p.Lys1688Asn) c.5067A>T (p.Lys1689Asn) c.5115A>T (p.Lys1705Asn) c.4893A>T (p.Lys1631Asn) c.5028A>T (p.Lys1676Asn) c.4992A>T (p.Lys1664Asn) c.5118A>T (p.Lys1706Asn) c.5046A>T (p.Lys1682Asn) c.5034A>T (p.Lys1678Asn) | |
| X | g.108157009T>C | CA518100568 | COL4A6 | c.5064A>G (p.Lys1688=) c.5067A>G (p.Lys1689=) c.5115A>G (p.Lys1705=) c.4893A>G (p.Lys1631=) c.5028A>G (p.Lys1676=) c.4992A>G (p.Lys1664=) c.5118A>G (p.Lys1706=) c.5046A>G (p.Lys1682=) c.5034A>G (p.Lys1678=) | |
| X | g.108157009T>G | CA413847837 | COL4A6 | c.5064A>C (p.Lys1688Asn) c.5067A>C (p.Lys1689Asn) c.5115A>C (p.Lys1705Asn) c.4893A>C (p.Lys1631Asn) c.5028A>C (p.Lys1676Asn) c.4992A>C (p.Lys1664Asn) c.5118A>C (p.Lys1706Asn) c.5046A>C (p.Lys1682Asn) c.5034A>C (p.Lys1678Asn) | |
| X | g.108157010T>A | CA413847839 | COL4A6 | c.5063A>T (p.Lys1688Ile) c.5066A>T (p.Lys1689Ile) c.5114A>T (p.Lys1705Ile) c.4892A>T (p.Lys1631Ile) c.5027A>T (p.Lys1676Ile) c.4991A>T (p.Lys1664Ile) c.5117A>T (p.Lys1706Ile) c.5045A>T (p.Lys1682Ile) c.5033A>T (p.Lys1678Ile) | |
| X | g.108157010T>C | CA413847843 | COL4A6 | c.5063A>G (p.Lys1688Arg) c.5066A>G (p.Lys1689Arg) c.5114A>G (p.Lys1705Arg) c.4892A>G (p.Lys1631Arg) c.5027A>G (p.Lys1676Arg) c.4991A>G (p.Lys1664Arg) c.5117A>G (p.Lys1706Arg) c.5045A>G (p.Lys1682Arg) c.5033A>G (p.Lys1678Arg) | |
| X | g.108157010T>G | CA413847841 | COL4A6 | c.5063A>C (p.Lys1688Thr) c.5066A>C (p.Lys1689Thr) c.5114A>C (p.Lys1705Thr) c.4892A>C (p.Lys1631Thr) c.5027A>C (p.Lys1676Thr) c.4991A>C (p.Lys1664Thr) c.5117A>C (p.Lys1706Thr) c.5045A>C (p.Lys1682Thr) c.5033A>C (p.Lys1678Thr) | |
| X | g.108157011T>A | CA413847844 | COL4A6 | c.5062A>T (p.Lys1688Ter) c.5065A>T (p.Lys1689Ter) c.5113A>T (p.Lys1705Ter) c.4891A>T (p.Lys1631Ter) c.5026A>T (p.Lys1676Ter) c.4990A>T (p.Lys1664Ter) c.5116A>T (p.Lys1706Ter) c.5044A>T (p.Lys1682Ter) c.5032A>T (p.Lys1678Ter) | |
| X | g.108157011T>C | CA413847846 | COL4A6 | c.5062A>G (p.Lys1688Glu) c.5065A>G (p.Lys1689Glu) c.5113A>G (p.Lys1705Glu) c.4891A>G (p.Lys1631Glu) c.5026A>G (p.Lys1676Glu) c.4990A>G (p.Lys1664Glu) c.5116A>G (p.Lys1706Glu) c.5044A>G (p.Lys1682Glu) c.5032A>G (p.Lys1678Glu) | |
| X | g.108157011T>G | CA413847848 | COL4A6 | c.5062A>C (p.Lys1688Gln) c.5065A>C (p.Lys1689Gln) c.5113A>C (p.Lys1705Gln) c.4891A>C (p.Lys1631Gln) c.5026A>C (p.Lys1676Gln) c.4990A>C (p.Lys1664Gln) c.5116A>C (p.Lys1706Gln) c.5044A>C (p.Lys1682Gln) c.5032A>C (p.Lys1678Gln) | |
| X | g.108157012C>A | CA413847850 | COL4A6 | c.5061G>T (p.Met1687Ile) c.5064G>T (p.Met1688Ile) c.5112G>T (p.Met1704Ile) c.4890G>T (p.Met1630Ile) c.5025G>T (p.Met1675Ile) c.4989G>T (p.Met1663Ile) c.5115G>T (p.Met1705Ile) c.5043G>T (p.Met1681Ile) c.5031G>T (p.Met1677Ile) | |
| X | g.108157012C>G | CA413847851 | COL4A6 | c.5061G>C (p.Met1687Ile) c.5064G>C (p.Met1688Ile) c.5112G>C (p.Met1704Ile) c.4890G>C (p.Met1630Ile) c.5025G>C (p.Met1675Ile) c.4989G>C (p.Met1663Ile) c.5115G>C (p.Met1705Ile) c.5043G>C (p.Met1681Ile) c.5031G>C (p.Met1677Ile) | |
| X | g.108157012C>T | CA413847853 | COL4A6 | c.5061G>A (p.Met1687Ile) c.5064G>A (p.Met1688Ile) c.5112G>A (p.Met1704Ile) c.4890G>A (p.Met1630Ile) c.5025G>A (p.Met1675Ile) c.4989G>A (p.Met1663Ile) c.5115G>A (p.Met1705Ile) c.5043G>A (p.Met1681Ile) c.5031G>A (p.Met1677Ile) | gnomAD v4 |
| X | g.108157013A>C | CA413847858 | COL4A6 | c.5060T>G (p.Met1687Arg) c.5063T>G (p.Met1688Arg) c.5111T>G (p.Met1704Arg) c.4889T>G (p.Met1630Arg) c.5024T>G (p.Met1675Arg) c.4988T>G (p.Met1663Arg) c.5114T>G (p.Met1705Arg) c.5042T>G (p.Met1681Arg) c.5030T>G (p.Met1677Arg) | |
| X | g.108157013A>G | CA413847855 | COL4A6 | c.5060T>C (p.Met1687Thr) c.5063T>C (p.Met1688Thr) c.5111T>C (p.Met1704Thr) c.4889T>C (p.Met1630Thr) c.5024T>C (p.Met1675Thr) c.4988T>C (p.Met1663Thr) c.5114T>C (p.Met1705Thr) c.5042T>C (p.Met1681Thr) c.5030T>C (p.Met1677Thr) | |
| X | g.108157013A>T | CA413847856 | COL4A6 | c.5060T>A (p.Met1687Lys) c.5063T>A (p.Met1688Lys) c.5111T>A (p.Met1704Lys) c.4889T>A (p.Met1630Lys) c.5024T>A (p.Met1675Lys) c.4988T>A (p.Met1663Lys) c.5114T>A (p.Met1705Lys) c.5042T>A (p.Met1681Lys) c.5030T>A (p.Met1677Lys) | |
| X | g.108157014T>A | CA413847861 | COL4A6 | c.5059A>T (p.Met1687Leu) c.5062A>T (p.Met1688Leu) c.5110A>T (p.Met1704Leu) c.4888A>T (p.Met1630Leu) c.5023A>T (p.Met1675Leu) c.4987A>T (p.Met1663Leu) c.5113A>T (p.Met1705Leu) c.5041A>T (p.Met1681Leu) c.5029A>T (p.Met1677Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157014T>C | CA413847862 | COL4A6 | c.5059A>G (p.Met1687Val) c.5062A>G (p.Met1688Val) c.5110A>G (p.Met1704Val) c.4888A>G (p.Met1630Val) c.5023A>G (p.Met1675Val) c.4987A>G (p.Met1663Val) c.5113A>G (p.Met1705Val) c.5041A>G (p.Met1681Val) c.5029A>G (p.Met1677Val) | ClinVar |
| X | g.108157014T>G | CA413847863 | COL4A6 | c.5059A>C (p.Met1687Leu) c.5062A>C (p.Met1688Leu) c.5110A>C (p.Met1704Leu) c.4888A>C (p.Met1630Leu) c.5023A>C (p.Met1675Leu) c.4987A>C (p.Met1663Leu) c.5113A>C (p.Met1705Leu) c.5041A>C (p.Met1681Leu) c.5029A>C (p.Met1677Leu) | |
| X | g.108157014T= | CA2450541931 | COL4A6 | c.5059A= (p.Met1687=) c.5062A= (p.Met1688=) c.5110A= (p.Met1704=) c.4888A= (p.Met1630=) c.5023A= (p.Met1675=) c.4987A= (p.Met1663=) c.5113A= (p.Met1705=) c.5041A= (p.Met1681=) c.5029A= (p.Met1677=) | |
| X | g.108157015A>C | CA413847865 | COL4A6 | c.5058T>G (p.Cys1686Trp) c.5061T>G (p.Cys1687Trp) c.5109T>G (p.Cys1703Trp) c.4887T>G (p.Cys1629Trp) c.5022T>G (p.Cys1674Trp) c.4986T>G (p.Cys1662Trp) c.5112T>G (p.Cys1704Trp) c.5040T>G (p.Cys1680Trp) c.5028T>G (p.Cys1676Trp) | |
| X | g.108157015A>G | CA518100581 | COL4A6 | c.5058T>C (p.Cys1686=) c.5061T>C (p.Cys1687=) c.5109T>C (p.Cys1703=) c.4887T>C (p.Cys1629=) c.5022T>C (p.Cys1674=) c.4986T>C (p.Cys1662=) c.5112T>C (p.Cys1704=) c.5040T>C (p.Cys1680=) c.5028T>C (p.Cys1676=) | gnomAD v4 |
| X | g.108157015A>T | CA413847866 | COL4A6 | c.5058T>A (p.Cys1686Ter) c.5061T>A (p.Cys1687Ter) c.5109T>A (p.Cys1703Ter) c.4887T>A (p.Cys1629Ter) c.5022T>A (p.Cys1674Ter) c.4986T>A (p.Cys1662Ter) c.5112T>A (p.Cys1704Ter) c.5040T>A (p.Cys1680Ter) c.5028T>A (p.Cys1676Ter) | |
| X | g.108157017_108157035del | CA2694428828 | COL4A6 | c.5040_5058del (p.Ser1681Ter) c.5043_5061del (p.Ser1682Ter) c.5091_5109del (p.Ser1698Ter) c.4869_4887del (p.Ser1624Ter) c.5004_5022del (p.Ser1669Ter) c.4968_4986del (p.Ser1657Ter) c.5094_5112del (p.Ser1699Ter) c.5022_5040del (p.Ser1675Ter) c.5010_5028del (p.Ser1671Ter) | gnomAD v4 |
| X | g.108157016C>A | CA413847868 | COL4A6 | c.5057G>T (p.Cys1686Phe) c.5060G>T (p.Cys1687Phe) c.5108G>T (p.Cys1703Phe) c.4886G>T (p.Cys1629Phe) c.5021G>T (p.Cys1674Phe) c.4985G>T (p.Cys1662Phe) c.5111G>T (p.Cys1704Phe) c.5039G>T (p.Cys1680Phe) c.5027G>T (p.Cys1676Phe) | |
| X | g.108157016C>G | CA413847872 | COL4A6 | c.5057G>C (p.Cys1686Ser) c.5060G>C (p.Cys1687Ser) c.5108G>C (p.Cys1703Ser) c.4886G>C (p.Cys1629Ser) c.5021G>C (p.Cys1674Ser) c.4985G>C (p.Cys1662Ser) c.5111G>C (p.Cys1704Ser) c.5039G>C (p.Cys1680Ser) c.5027G>C (p.Cys1676Ser) | |
| X | g.108157016C>T | CA413847870 | COL4A6 | c.5057G>A (p.Cys1686Tyr) c.5060G>A (p.Cys1687Tyr) c.5108G>A (p.Cys1703Tyr) c.4886G>A (p.Cys1629Tyr) c.5021G>A (p.Cys1674Tyr) c.4985G>A (p.Cys1662Tyr) c.5111G>A (p.Cys1704Tyr) c.5039G>A (p.Cys1680Tyr) c.5027G>A (p.Cys1676Tyr) | |
| X | g.108157017A>C | CA413847874 | COL4A6 | c.5056T>G (p.Cys1686Gly) c.5059T>G (p.Cys1687Gly) c.5107T>G (p.Cys1703Gly) c.4885T>G (p.Cys1629Gly) c.5020T>G (p.Cys1674Gly) c.4984T>G (p.Cys1662Gly) c.5110T>G (p.Cys1704Gly) c.5038T>G (p.Cys1680Gly) c.5026T>G (p.Cys1676Gly) | |
| X | g.108157017A>G | CA413847876 | COL4A6 | c.5056T>C (p.Cys1686Arg) c.5059T>C (p.Cys1687Arg) c.5107T>C (p.Cys1703Arg) c.4885T>C (p.Cys1629Arg) c.5020T>C (p.Cys1674Arg) c.4984T>C (p.Cys1662Arg) c.5110T>C (p.Cys1704Arg) c.5038T>C (p.Cys1680Arg) c.5026T>C (p.Cys1676Arg) | |
| X | g.108157017A>T | CA413847878 | COL4A6 | c.5056T>A (p.Cys1686Ser) c.5059T>A (p.Cys1687Ser) c.5107T>A (p.Cys1703Ser) c.4885T>A (p.Cys1629Ser) c.5020T>A (p.Cys1674Ser) c.4984T>A (p.Cys1662Ser) c.5110T>A (p.Cys1704Ser) c.5038T>A (p.Cys1680Ser) c.5026T>A (p.Cys1676Ser) | |
| X | g.108157018C>A | CA518100591 | COL4A6 | c.5055G>T (p.Val1685=) c.5058G>T (p.Val1686=) c.5106G>T (p.Val1702=) c.4884G>T (p.Val1628=) c.5019G>T (p.Val1673=) c.4983G>T (p.Val1661=) c.5109G>T (p.Val1703=) c.5037G>T (p.Val1679=) c.5025G>T (p.Val1675=) | |
| X | g.108157018C>G | CA518100589 | COL4A6 | c.5055G>C (p.Val1685=) c.5058G>C (p.Val1686=) c.5106G>C (p.Val1702=) c.4884G>C (p.Val1628=) c.5019G>C (p.Val1673=) c.4983G>C (p.Val1661=) c.5109G>C (p.Val1703=) c.5037G>C (p.Val1679=) c.5025G>C (p.Val1675=) | gnomAD v4 |
| X | g.108157018C>T | CA518100588 | COL4A6 | c.5055G>A (p.Val1685=) c.5058G>A (p.Val1686=) c.5106G>A (p.Val1702=) c.4884G>A (p.Val1628=) c.5019G>A (p.Val1673=) c.4983G>A (p.Val1661=) c.5109G>A (p.Val1703=) c.5037G>A (p.Val1679=) c.5025G>A (p.Val1675=) | |
| X | g.108157019A>C | CA413847879 | COL4A6 | c.5054T>G (p.Val1685Gly) c.5057T>G (p.Val1686Gly) c.5105T>G (p.Val1702Gly) c.4883T>G (p.Val1628Gly) c.5018T>G (p.Val1673Gly) c.4982T>G (p.Val1661Gly) c.5108T>G (p.Val1703Gly) c.5036T>G (p.Val1679Gly) c.5024T>G (p.Val1675Gly) | |
| X | g.108157019A>G | CA413847880 | COL4A6 | c.5054T>C (p.Val1685Ala) c.5057T>C (p.Val1686Ala) c.5105T>C (p.Val1702Ala) c.4883T>C (p.Val1628Ala) c.5018T>C (p.Val1673Ala) c.4982T>C (p.Val1661Ala) c.5108T>C (p.Val1703Ala) c.5036T>C (p.Val1679Ala) c.5024T>C (p.Val1675Ala) | |
| X | g.108157019A>T | CA413847882 | COL4A6 | c.5054T>A (p.Val1685Glu) c.5057T>A (p.Val1686Glu) c.5105T>A (p.Val1702Glu) c.4883T>A (p.Val1628Glu) c.5018T>A (p.Val1673Glu) c.4982T>A (p.Val1661Glu) c.5108T>A (p.Val1703Glu) c.5036T>A (p.Val1679Glu) c.5024T>A (p.Val1675Glu) | |
| X | g.108157020C>A | CA413847885 | COL4A6 | c.5053G>T (p.Val1685Leu) c.5056G>T (p.Val1686Leu) c.5104G>T (p.Val1702Leu) c.4882G>T (p.Val1628Leu) c.5017G>T (p.Val1673Leu) c.4981G>T (p.Val1661Leu) c.5107G>T (p.Val1703Leu) c.5035G>T (p.Val1679Leu) c.5023G>T (p.Val1675Leu) | gnomAD v4 |
| X | g.108157020C>G | CA413847886 | COL4A6 | c.5053G>C (p.Val1685Leu) c.5056G>C (p.Val1686Leu) c.5104G>C (p.Val1702Leu) c.4882G>C (p.Val1628Leu) c.5017G>C (p.Val1673Leu) c.4981G>C (p.Val1661Leu) c.5107G>C (p.Val1703Leu) c.5035G>C (p.Val1679Leu) c.5023G>C (p.Val1675Leu) | |
| X | g.108157020C>T | CA413847888 | COL4A6 | c.5053G>A (p.Val1685Met) c.5056G>A (p.Val1686Met) c.5104G>A (p.Val1702Met) c.4882G>A (p.Val1628Met) c.5017G>A (p.Val1673Met) c.4981G>A (p.Val1661Met) c.5107G>A (p.Val1703Met) c.5035G>A (p.Val1679Met) c.5023G>A (p.Val1675Met) | |
| X | g.108157021C>A | CA413847891 | COL4A6 | c.5052G>T (p.Gln1684His) c.5055G>T (p.Gln1685His) c.5103G>T (p.Gln1701His) c.4881G>T (p.Gln1627His) c.5016G>T (p.Gln1672His) c.4980G>T (p.Gln1660His) c.5106G>T (p.Gln1702His) c.5034G>T (p.Gln1678His) c.5022G>T (p.Gln1674His) | |
| X | g.108157021C= | CA2450541932 | COL4A6 | c.5052G= (p.Gln1684=) c.5055G= (p.Gln1685=) c.5103G= (p.Gln1701=) c.4881G= (p.Gln1627=) c.5016G= (p.Gln1672=) c.4980G= (p.Gln1660=) c.5106G= (p.Gln1702=) c.5034G= (p.Gln1678=) c.5022G= (p.Gln1674=) | |
| X | g.108157021C>G | CA10487071 | COL4A6 | c.5052G>C (p.Gln1684His) c.5055G>C (p.Gln1685His) c.5103G>C (p.Gln1701His) c.4881G>C (p.Gln1627His) c.5016G>C (p.Gln1672His) c.4980G>C (p.Gln1660His) c.5106G>C (p.Gln1702His) c.5034G>C (p.Gln1678His) c.5022G>C (p.Gln1674His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157021C>T | CA518100598 | COL4A6 | c.5052G>A (p.Gln1684=) c.5055G>A (p.Gln1685=) c.5103G>A (p.Gln1701=) c.4881G>A (p.Gln1627=) c.5016G>A (p.Gln1672=) c.4980G>A (p.Gln1660=) c.5106G>A (p.Gln1702=) c.5034G>A (p.Gln1678=) c.5022G>A (p.Gln1674=) | |
| X | g.108157022T>A | CA413847893 | COL4A6 | c.5051A>T (p.Gln1684Leu) c.5054A>T (p.Gln1685Leu) c.5102A>T (p.Gln1701Leu) c.4880A>T (p.Gln1627Leu) c.5015A>T (p.Gln1672Leu) c.4979A>T (p.Gln1660Leu) c.5105A>T (p.Gln1702Leu) c.5033A>T (p.Gln1678Leu) c.5021A>T (p.Gln1674Leu) | |
| X | g.108157022T>C | CA413847897 | COL4A6 | c.5051A>G (p.Gln1684Arg) c.5054A>G (p.Gln1685Arg) c.5102A>G (p.Gln1701Arg) c.4880A>G (p.Gln1627Arg) c.5015A>G (p.Gln1672Arg) c.4979A>G (p.Gln1660Arg) c.5105A>G (p.Gln1702Arg) c.5033A>G (p.Gln1678Arg) c.5021A>G (p.Gln1674Arg) | |
| X | g.108157022T>G | CA413847895 | COL4A6 | c.5051A>C (p.Gln1684Pro) c.5054A>C (p.Gln1685Pro) c.5102A>C (p.Gln1701Pro) c.4880A>C (p.Gln1627Pro) c.5015A>C (p.Gln1672Pro) c.4979A>C (p.Gln1660Pro) c.5105A>C (p.Gln1702Pro) c.5033A>C (p.Gln1678Pro) c.5021A>C (p.Gln1674Pro) | |
| X | g.108157023G>A | CA413847899 | COL4A6 | c.5050C>T (p.Gln1684Ter) c.5053C>T (p.Gln1685Ter) c.5101C>T (p.Gln1701Ter) c.4879C>T (p.Gln1627Ter) c.5014C>T (p.Gln1672Ter) c.4978C>T (p.Gln1660Ter) c.5104C>T (p.Gln1702Ter) c.5032C>T (p.Gln1678Ter) c.5020C>T (p.Gln1674Ter) | |
| X | g.108157023G>C | CA413847900 | COL4A6 | c.5050C>G (p.Gln1684Glu) c.5053C>G (p.Gln1685Glu) c.5101C>G (p.Gln1701Glu) c.4879C>G (p.Gln1627Glu) c.5014C>G (p.Gln1672Glu) c.4978C>G (p.Gln1660Glu) c.5104C>G (p.Gln1702Glu) c.5032C>G (p.Gln1678Glu) c.5020C>G (p.Gln1674Glu) | |
| X | g.108157023G>T | CA413847902 | COL4A6 | c.5050C>A (p.Gln1684Lys) c.5053C>A (p.Gln1685Lys) c.5101C>A (p.Gln1701Lys) c.4879C>A (p.Gln1627Lys) c.5014C>A (p.Gln1672Lys) c.4978C>A (p.Gln1660Lys) c.5104C>A (p.Gln1702Lys) c.5032C>A (p.Gln1678Lys) c.5020C>A (p.Gln1674Lys) | |
| X | g.108157024del | CA2822887521 | COL4A6 | c.5050del (p.Gln1684ArgfsTer4) c.5053del (p.Gln1685ArgfsTer4) c.5101del (p.Gln1701ArgfsTer4) c.4879del (p.Gln1627ArgfsTer4) c.5014del (p.Gln1672ArgfsTer4) c.4978del (p.Gln1660ArgfsTer4) c.5104del (p.Gln1702ArgfsTer4) c.5032del (p.Gln1678ArgfsTer4) c.5020del (p.Gln1674ArgfsTer4) | |
| X | g.108157024G>A | CA518100606 | COL4A6 | c.5049C>T (p.Cys1683=) c.5052C>T (p.Cys1684=) c.5100C>T (p.Cys1700=) c.4878C>T (p.Cys1626=) c.5013C>T (p.Cys1671=) c.4977C>T (p.Cys1659=) c.5103C>T (p.Cys1701=) c.5031C>T (p.Cys1677=) c.5019C>T (p.Cys1673=) | |
| X | g.108157024G>C | CA413847904 | COL4A6 | c.5049C>G (p.Cys1683Trp) c.5052C>G (p.Cys1684Trp) c.5100C>G (p.Cys1700Trp) c.4878C>G (p.Cys1626Trp) c.5013C>G (p.Cys1671Trp) c.4977C>G (p.Cys1659Trp) c.5103C>G (p.Cys1701Trp) c.5031C>G (p.Cys1677Trp) c.5019C>G (p.Cys1673Trp) | |
| X | g.108157024G>T | CA413847906 | COL4A6 | c.5049C>A (p.Cys1683Ter) c.5052C>A (p.Cys1684Ter) c.5100C>A (p.Cys1700Ter) c.4878C>A (p.Cys1626Ter) c.5013C>A (p.Cys1671Ter) c.4977C>A (p.Cys1659Ter) c.5103C>A (p.Cys1701Ter) c.5031C>A (p.Cys1677Ter) c.5019C>A (p.Cys1673Ter) | |
| X | g.108157025C>A | CA413847908 | COL4A6 | c.5048G>T (p.Cys1683Phe) c.5051G>T (p.Cys1684Phe) c.5099G>T (p.Cys1700Phe) c.4877G>T (p.Cys1626Phe) c.5012G>T (p.Cys1671Phe) c.4976G>T (p.Cys1659Phe) c.5102G>T (p.Cys1701Phe) c.5030G>T (p.Cys1677Phe) c.5018G>T (p.Cys1673Phe) | |
| X | g.108157025C>G | CA413847910 | COL4A6 | c.5048G>C (p.Cys1683Ser) c.5051G>C (p.Cys1684Ser) c.5099G>C (p.Cys1700Ser) c.4877G>C (p.Cys1626Ser) c.5012G>C (p.Cys1671Ser) c.4976G>C (p.Cys1659Ser) c.5102G>C (p.Cys1701Ser) c.5030G>C (p.Cys1677Ser) c.5018G>C (p.Cys1673Ser) | |
| X | g.108157025C>T | CA413847912 | COL4A6 | c.5048G>A (p.Cys1683Tyr) c.5051G>A (p.Cys1684Tyr) c.5099G>A (p.Cys1700Tyr) c.4877G>A (p.Cys1626Tyr) c.5012G>A (p.Cys1671Tyr) c.4976G>A (p.Cys1659Tyr) c.5102G>A (p.Cys1701Tyr) c.5030G>A (p.Cys1677Tyr) c.5018G>A (p.Cys1673Tyr) | |
| X | g.108157026_108157027insTACACACCTACA | CA2694428838 | COL4A6 | c.5048_5049insTAGGTGTGTATG (p.Cys1683_Gln1684insArgCysValCys) c.5051_5052insTAGGTGTGTATG (p.Cys1684_Gln1685insArgCysValCys) c.5099_5100insTAGGTGTGTATG (p.Cys1700_Gln1701insArgCysValCys) c.4877_4878insTAGGTGTGTATG (p.Cys1626_Gln1627insArgCysValCys) c.5012_5013insTAGGTGTGTATG (p.Cys1671_Gln1672insArgCysValCys) c.4976_4977insTAGGTGTGTATG (p.Cys1659_Gln1660insArgCysValCys) c.5102_5103insTAGGTGTGTATG (p.Cys1701_Gln1702insArgCysValCys) c.5030_5031insTAGGTGTGTATG (p.Cys1677_Gln1678insArgCysValCys) c.5018_5019insTAGGTGTGTATG (p.Cys1673_Gln1674insArgCysValCys) | gnomAD v4 |
| X | g.108157029_108157056del | CA2694428839 | COL4A6 | c.5021_5048del (p.Gly1674AlafsTer5) c.5024_5051del (p.Gly1675AlafsTer5) c.5072_5099del (p.Gly1691AlafsTer5) c.4850_4877del (p.Gly1617AlafsTer5) c.4985_5012del (p.Gly1662AlafsTer5) c.4949_4976del (p.Gly1650AlafsTer5) c.5075_5102del (p.Gly1692AlafsTer5) c.5003_5030del (p.Gly1668AlafsTer5) c.4991_5018del (p.Gly1664AlafsTer5) | gnomAD v4 |
| X | g.108157026A>C | CA413847914 | COL4A6 | c.5047T>G (p.Cys1683Gly) c.5050T>G (p.Cys1684Gly) c.5098T>G (p.Cys1700Gly) c.4876T>G (p.Cys1626Gly) c.5011T>G (p.Cys1671Gly) c.4975T>G (p.Cys1659Gly) c.5101T>G (p.Cys1701Gly) c.5029T>G (p.Cys1677Gly) c.5017T>G (p.Cys1673Gly) | |
| X | g.108157026A>G | CA413847915 | COL4A6 | c.5047T>C (p.Cys1683Arg) c.5050T>C (p.Cys1684Arg) c.5098T>C (p.Cys1700Arg) c.4876T>C (p.Cys1626Arg) c.5011T>C (p.Cys1671Arg) c.4975T>C (p.Cys1659Arg) c.5101T>C (p.Cys1701Arg) c.5029T>C (p.Cys1677Arg) c.5017T>C (p.Cys1673Arg) | |
| X | g.108157026A>T | CA413847917 | COL4A6 | c.5047T>A (p.Cys1683Ser) c.5050T>A (p.Cys1684Ser) c.5098T>A (p.Cys1700Ser) c.4876T>A (p.Cys1626Ser) c.5011T>A (p.Cys1671Ser) c.4975T>A (p.Cys1659Ser) c.5101T>A (p.Cys1701Ser) c.5029T>A (p.Cys1677Ser) c.5017T>A (p.Cys1673Ser) | |
| X | g.108157027G>A | CA518100607 | COL4A6 | c.5046C>T (p.Arg1682=) c.5049C>T (p.Arg1683=) c.5097C>T (p.Arg1699=) c.4875C>T (p.Arg1625=) c.5010C>T (p.Arg1670=) c.4974C>T (p.Arg1658=) c.5100C>T (p.Arg1700=) c.5028C>T (p.Arg1676=) c.5016C>T (p.Arg1672=) | |
| X | g.108157027G>C | CA518100608 | COL4A6 | c.5046C>G (p.Arg1682=) c.5049C>G (p.Arg1683=) c.5097C>G (p.Arg1699=) c.4875C>G (p.Arg1625=) c.5010C>G (p.Arg1670=) c.4974C>G (p.Arg1658=) c.5100C>G (p.Arg1700=) c.5028C>G (p.Arg1676=) c.5016C>G (p.Arg1672=) | |
| X | g.108157027G>T | CA518100609 | COL4A6 | c.5046C>A (p.Arg1682=) c.5049C>A (p.Arg1683=) c.5097C>A (p.Arg1699=) c.4875C>A (p.Arg1625=) c.5010C>A (p.Arg1670=) c.4974C>A (p.Arg1658=) c.5100C>A (p.Arg1700=) c.5028C>A (p.Arg1676=) c.5016C>A (p.Arg1672=) | |
| X | g.108157027_108157028insGCTTTTCATACACACTTTTCATACA | CA2694428840 | COL4A6 | c.5045_5046insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1683ValfsTer2) c.5048_5049insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1684ValfsTer2) c.5096_5097insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1700ValfsTer2) c.4874_4875insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1626ValfsTer2) c.5009_5010insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1671ValfsTer2) c.4973_4974insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1659ValfsTer2) c.5099_5100insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1701ValfsTer2) c.5027_5028insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1677ValfsTer2) c.5015_5016insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1673ValfsTer2) | gnomAD v4 |
| X | g.108157028C>A | CA413847922 | COL4A6 | c.5045G>T (p.Arg1682Leu) c.5048G>T (p.Arg1683Leu) c.5096G>T (p.Arg1699Leu) c.4874G>T (p.Arg1625Leu) c.5009G>T (p.Arg1670Leu) c.4973G>T (p.Arg1658Leu) c.5099G>T (p.Arg1700Leu) c.5027G>T (p.Arg1676Leu) c.5015G>T (p.Arg1672Leu) | |
| X | g.108157028C= | CA2450541933 | COL4A6 | c.5045G= (p.Arg1682=) c.5048G= (p.Arg1683=) c.5096G= (p.Arg1699=) c.4874G= (p.Arg1625=) c.5009G= (p.Arg1670=) c.4973G= (p.Arg1658=) c.5099G= (p.Arg1700=) c.5027G= (p.Arg1676=) c.5015G= (p.Arg1672=) | |
| X | g.108157028C>G | CA413847919 | COL4A6 | c.5045G>C (p.Arg1682Pro) c.5048G>C (p.Arg1683Pro) c.5096G>C (p.Arg1699Pro) c.4874G>C (p.Arg1625Pro) c.5009G>C (p.Arg1670Pro) c.4973G>C (p.Arg1658Pro) c.5099G>C (p.Arg1700Pro) c.5027G>C (p.Arg1676Pro) c.5015G>C (p.Arg1672Pro) | |
| X | g.108157028C>T | CA413847921 | COL4A6 | c.5045G>A (p.Arg1682His) c.5048G>A (p.Arg1683His) c.5096G>A (p.Arg1699His) c.4874G>A (p.Arg1625His) c.5009G>A (p.Arg1670His) c.4973G>A (p.Arg1658His) c.5099G>A (p.Arg1700His) c.5027G>A (p.Arg1676His) c.5015G>A (p.Arg1672His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.108157029G>A | CA10487072 | COL4A6 | c.5044C>T (p.Arg1682Cys) c.5047C>T (p.Arg1683Cys) c.5095C>T (p.Arg1699Cys) c.4873C>T (p.Arg1625Cys) c.5008C>T (p.Arg1670Cys) c.4972C>T (p.Arg1658Cys) c.5098C>T (p.Arg1700Cys) c.5026C>T (p.Arg1676Cys) c.5014C>T (p.Arg1672Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157029G>C | CA413847924 | COL4A6 | c.5044C>G (p.Arg1682Gly) c.5047C>G (p.Arg1683Gly) c.5095C>G (p.Arg1699Gly) c.4873C>G (p.Arg1625Gly) c.5008C>G (p.Arg1670Gly) c.4972C>G (p.Arg1658Gly) c.5098C>G (p.Arg1700Gly) c.5026C>G (p.Arg1676Gly) c.5014C>G (p.Arg1672Gly) | |
| X | g.108157029G= | CA2450541934 | COL4A6 | c.5044C= (p.Arg1682=) c.5047C= (p.Arg1683=) c.5095C= (p.Arg1699=) c.4873C= (p.Arg1625=) c.5008C= (p.Arg1670=) c.4972C= (p.Arg1658=) c.5098C= (p.Arg1700=) c.5026C= (p.Arg1676=) c.5014C= (p.Arg1672=) | |
| X | g.108157029G>T | CA413847926 | COL4A6 | c.5044C>A (p.Arg1682Ser) c.5047C>A (p.Arg1683Ser) c.5095C>A (p.Arg1699Ser) c.4873C>A (p.Arg1625Ser) c.5008C>A (p.Arg1670Ser) c.4972C>A (p.Arg1658Ser) c.5098C>A (p.Arg1700Ser) c.5026C>A (p.Arg1676Ser) c.5014C>A (p.Arg1672Ser) | gnomAD v4 |
| X | g.108157030A>C | CA413847927 | COL4A6 | c.5043T>G (p.Ser1681Arg) c.5046T>G (p.Ser1682Arg) c.5094T>G (p.Ser1698Arg) c.4872T>G (p.Ser1624Arg) c.5007T>G (p.Ser1669Arg) c.4971T>G (p.Ser1657Arg) c.5097T>G (p.Ser1699Arg) c.5025T>G (p.Ser1675Arg) c.5013T>G (p.Ser1671Arg) | |
| X | g.108157030A>G | CA518100616 | COL4A6 | c.5043T>C (p.Ser1681=) c.5046T>C (p.Ser1682=) c.5094T>C (p.Ser1698=) c.4872T>C (p.Ser1624=) c.5007T>C (p.Ser1669=) c.4971T>C (p.Ser1657=) c.5097T>C (p.Ser1699=) c.5025T>C (p.Ser1675=) c.5013T>C (p.Ser1671=) | gnomAD v4 |
| X | g.108157030A>T | CA413847928 | COL4A6 | c.5043T>A (p.Ser1681Arg) c.5046T>A (p.Ser1682Arg) c.5094T>A (p.Ser1698Arg) c.4872T>A (p.Ser1624Arg) c.5007T>A (p.Ser1669Arg) c.4971T>A (p.Ser1657Arg) c.5097T>A (p.Ser1699Arg) c.5025T>A (p.Ser1675Arg) c.5013T>A (p.Ser1671Arg) | |
| X | g.108157031C>A | CA413847931 | COL4A6 | c.5042G>T (p.Ser1681Ile) c.5045G>T (p.Ser1682Ile) c.5093G>T (p.Ser1698Ile) c.4871G>T (p.Ser1624Ile) c.5006G>T (p.Ser1669Ile) c.4970G>T (p.Ser1657Ile) c.5096G>T (p.Ser1699Ile) c.5024G>T (p.Ser1675Ile) c.5012G>T (p.Ser1671Ile) | |
| X | g.108157031C= | CA2450541935 | COL4A6 | c.5042G= (p.Ser1681=) c.5045G= (p.Ser1682=) c.5093G= (p.Ser1698=) c.4871G= (p.Ser1624=) c.5006G= (p.Ser1669=) c.4970G= (p.Ser1657=) c.5096G= (p.Ser1699=) c.5024G= (p.Ser1675=) c.5012G= (p.Ser1671=) | |
| X | g.108157031C>G | CA413847933 | COL4A6 | c.5042G>C (p.Ser1681Thr) c.5045G>C (p.Ser1682Thr) c.5093G>C (p.Ser1698Thr) c.4871G>C (p.Ser1624Thr) c.5006G>C (p.Ser1669Thr) c.4970G>C (p.Ser1657Thr) c.5096G>C (p.Ser1699Thr) c.5024G>C (p.Ser1675Thr) c.5012G>C (p.Ser1671Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157031C>T | CA413847935 | COL4A6 | c.5042G>A (p.Ser1681Asn) c.5045G>A (p.Ser1682Asn) c.5093G>A (p.Ser1698Asn) c.4871G>A (p.Ser1624Asn) c.5006G>A (p.Ser1669Asn) c.4970G>A (p.Ser1657Asn) c.5096G>A (p.Ser1699Asn) c.5024G>A (p.Ser1675Asn) c.5012G>A (p.Ser1671Asn) | ClinVar |
| X | g.108157032T>A | CA413847937 | COL4A6 | c.5041A>T (p.Ser1681Cys) c.5044A>T (p.Ser1682Cys) c.5092A>T (p.Ser1698Cys) c.4870A>T (p.Ser1624Cys) c.5005A>T (p.Ser1669Cys) c.4969A>T (p.Ser1657Cys) c.5095A>T (p.Ser1699Cys) c.5023A>T (p.Ser1675Cys) c.5011A>T (p.Ser1671Cys) | |
| X | g.108157032T>C | CA413847938 | COL4A6 | c.5041A>G (p.Ser1681Gly) c.5044A>G (p.Ser1682Gly) c.5092A>G (p.Ser1698Gly) c.4870A>G (p.Ser1624Gly) c.5005A>G (p.Ser1669Gly) c.4969A>G (p.Ser1657Gly) c.5095A>G (p.Ser1699Gly) c.5023A>G (p.Ser1675Gly) c.5011A>G (p.Ser1671Gly) | |
| X | g.108157032T>G | CA413847940 | COL4A6 | c.5041A>C (p.Ser1681Arg) c.5044A>C (p.Ser1682Arg) c.5092A>C (p.Ser1698Arg) c.4870A>C (p.Ser1624Arg) c.5005A>C (p.Ser1669Arg) c.4969A>C (p.Ser1657Arg) c.5095A>C (p.Ser1699Arg) c.5023A>C (p.Ser1675Arg) c.5011A>C (p.Ser1671Arg) | gnomAD v4 |
| X | g.108157033G>A | CA518100624 | COL4A6 | c.5040C>T (p.Val1680=) c.5043C>T (p.Val1681=) c.5091C>T (p.Val1697=) c.4869C>T (p.Val1623=) c.5004C>T (p.Val1668=) c.4968C>T (p.Val1656=) c.5094C>T (p.Val1698=) c.5022C>T (p.Val1674=) c.5010C>T (p.Val1670=) | gnomAD v4 |
| X | g.108157033G>C | CA518100625 | COL4A6 | c.5040C>G (p.Val1680=) c.5043C>G (p.Val1681=) c.5091C>G (p.Val1697=) c.4869C>G (p.Val1623=) c.5004C>G (p.Val1668=) c.4968C>G (p.Val1656=) c.5094C>G (p.Val1698=) c.5022C>G (p.Val1674=) c.5010C>G (p.Val1670=) | |
| X | g.108157033G>T | CA518100626 | COL4A6 | c.5040C>A (p.Val1680=) c.5043C>A (p.Val1681=) c.5091C>A (p.Val1697=) c.4869C>A (p.Val1623=) c.5004C>A (p.Val1668=) c.4968C>A (p.Val1656=) c.5094C>A (p.Val1698=) c.5022C>A (p.Val1674=) c.5010C>A (p.Val1670=) | |
| X | g.108157034A>C | CA413847943 | COL4A6 | c.5039T>G (p.Val1680Gly) c.5042T>G (p.Val1681Gly) c.5090T>G (p.Val1697Gly) c.4868T>G (p.Val1623Gly) c.5003T>G (p.Val1668Gly) c.4967T>G (p.Val1656Gly) c.5093T>G (p.Val1698Gly) c.5021T>G (p.Val1674Gly) c.5009T>G (p.Val1670Gly) | |
| X | g.108157034A>G | CA413847945 | COL4A6 | c.5039T>C (p.Val1680Ala) c.5042T>C (p.Val1681Ala) c.5090T>C (p.Val1697Ala) c.4868T>C (p.Val1623Ala) c.5003T>C (p.Val1668Ala) c.4967T>C (p.Val1656Ala) c.5093T>C (p.Val1698Ala) c.5021T>C (p.Val1674Ala) c.5009T>C (p.Val1670Ala) | |
| X | g.108157034A>T | CA413847942 | COL4A6 | c.5039T>A (p.Val1680Asp) c.5042T>A (p.Val1681Asp) c.5090T>A (p.Val1697Asp) c.4868T>A (p.Val1623Asp) c.5003T>A (p.Val1668Asp) c.4967T>A (p.Val1656Asp) c.5093T>A (p.Val1698Asp) c.5021T>A (p.Val1674Asp) c.5009T>A (p.Val1670Asp) | |
| X | g.108157035C>A | CA413847947 | COL4A6 | c.5038G>T (p.Val1680Phe) c.5041G>T (p.Val1681Phe) c.5089G>T (p.Val1697Phe) c.4867G>T (p.Val1623Phe) c.5002G>T (p.Val1668Phe) c.4966G>T (p.Val1656Phe) c.5092G>T (p.Val1698Phe) c.5020G>T (p.Val1674Phe) c.5008G>T (p.Val1670Phe) | |
| X | g.108157035C>G | CA413847949 | COL4A6 | c.5038G>C (p.Val1680Leu) c.5041G>C (p.Val1681Leu) c.5089G>C (p.Val1697Leu) c.4867G>C (p.Val1623Leu) c.5002G>C (p.Val1668Leu) c.4966G>C (p.Val1656Leu) c.5092G>C (p.Val1698Leu) c.5020G>C (p.Val1674Leu) c.5008G>C (p.Val1670Leu) | |
| X | g.108157035C>T | CA413847951 | COL4A6 | c.5038G>A (p.Val1680Ile) c.5041G>A (p.Val1681Ile) c.5089G>A (p.Val1697Ile) c.4867G>A (p.Val1623Ile) c.5002G>A (p.Val1668Ile) c.4966G>A (p.Val1656Ile) c.5092G>A (p.Val1698Ile) c.5020G>A (p.Val1674Ile) c.5008G>A (p.Val1670Ile) | gnomAD v4 |
| X | g.108157036T>A | CA518100633 | COL4A6 | c.5037A>T (p.Arg1679=) c.5040A>T (p.Arg1680=) c.5088A>T (p.Arg1696=) c.4866A>T (p.Arg1622=) c.5001A>T (p.Arg1667=) c.4965A>T (p.Arg1655=) c.5091A>T (p.Arg1697=) c.5019A>T (p.Arg1673=) c.5007A>T (p.Arg1669=) | |
| X | g.108157036T>C | CA518100634 | COL4A6 | c.5037A>G (p.Arg1679=) c.5040A>G (p.Arg1680=) c.5088A>G (p.Arg1696=) c.4866A>G (p.Arg1622=) c.5001A>G (p.Arg1667=) c.4965A>G (p.Arg1655=) c.5091A>G (p.Arg1697=) c.5019A>G (p.Arg1673=) c.5007A>G (p.Arg1669=) | |
| X | g.108157036T>G | CA518100635 | COL4A6 | c.5037A>C (p.Arg1679=) c.5040A>C (p.Arg1680=) c.5088A>C (p.Arg1696=) c.4866A>C (p.Arg1622=) c.5001A>C (p.Arg1667=) c.4965A>C (p.Arg1655=) c.5091A>C (p.Arg1697=) c.5019A>C (p.Arg1673=) c.5007A>C (p.Arg1669=) | gnomAD v4 |
| X | g.108157037C>A | CA413847953 | COL4A6 | c.5036G>T (p.Arg1679Leu) c.5039G>T (p.Arg1680Leu) c.5087G>T (p.Arg1696Leu) c.4865G>T (p.Arg1622Leu) c.5000G>T (p.Arg1667Leu) c.4964G>T (p.Arg1655Leu) c.5090G>T (p.Arg1697Leu) c.5018G>T (p.Arg1673Leu) c.5006G>T (p.Arg1669Leu) | |
| X | g.108157037C= | CA2450541936 | COL4A6 | c.5036G= (p.Arg1679=) c.5039G= (p.Arg1680=) c.5087G= (p.Arg1696=) c.4865G= (p.Arg1622=) c.5000G= (p.Arg1667=) c.4964G= (p.Arg1655=) c.5090G= (p.Arg1697=) c.5018G= (p.Arg1673=) c.5006G= (p.Arg1669=) | |
| X | g.108157037C>G | CA413847954 | COL4A6 | c.5036G>C (p.Arg1679Pro) c.5039G>C (p.Arg1680Pro) c.5087G>C (p.Arg1696Pro) c.4865G>C (p.Arg1622Pro) c.5000G>C (p.Arg1667Pro) c.4964G>C (p.Arg1655Pro) c.5090G>C (p.Arg1697Pro) c.5018G>C (p.Arg1673Pro) c.5006G>C (p.Arg1669Pro) | dbSNP |
| X | g.108157037C>T | CA10487073 | COL4A6 | c.5036G>A (p.Arg1679Gln) c.5039G>A (p.Arg1680Gln) c.5087G>A (p.Arg1696Gln) c.4865G>A (p.Arg1622Gln) c.5000G>A (p.Arg1667Gln) c.4964G>A (p.Arg1655Gln) c.5090G>A (p.Arg1697Gln) c.5018G>A (p.Arg1673Gln) c.5006G>A (p.Arg1669Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157038G>A | CA413847955 | COL4A6 | c.5035C>T (p.Arg1679Ter) c.5038C>T (p.Arg1680Ter) c.5086C>T (p.Arg1696Ter) c.4864C>T (p.Arg1622Ter) c.4999C>T (p.Arg1667Ter) c.4963C>T (p.Arg1655Ter) c.5089C>T (p.Arg1697Ter) c.5017C>T (p.Arg1673Ter) c.5005C>T (p.Arg1669Ter) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.108157038G>C | CA413847956 | COL4A6 | c.5035C>G (p.Arg1679Gly) c.5038C>G (p.Arg1680Gly) c.5086C>G (p.Arg1696Gly) c.4864C>G (p.Arg1622Gly) c.4999C>G (p.Arg1667Gly) c.4963C>G (p.Arg1655Gly) c.5089C>G (p.Arg1697Gly) c.5017C>G (p.Arg1673Gly) c.5005C>G (p.Arg1669Gly) | |
| X | g.108157038G= | CA2450541937 | COL4A6 | c.5035C= (p.Arg1679=) c.5038C= (p.Arg1680=) c.5086C= (p.Arg1696=) c.4864C= (p.Arg1622=) c.4999C= (p.Arg1667=) c.4963C= (p.Arg1655=) c.5089C= (p.Arg1697=) c.5017C= (p.Arg1673=) c.5005C= (p.Arg1669=) | |
| X | g.108157038G>T | CA518100640 | COL4A6 | c.5035C>A (p.Arg1679=) c.5038C>A (p.Arg1680=) c.5086C>A (p.Arg1696=) c.4864C>A (p.Arg1622=) c.4999C>A (p.Arg1667=) c.4963C>A (p.Arg1655=) c.5089C>A (p.Arg1697=) c.5017C>A (p.Arg1673=) c.5005C>A (p.Arg1669=) | |
| X | g.108157039A>C | CA518100645 | COL4A6 | c.5034T>G (p.Thr1678=) c.5037T>G (p.Thr1679=) c.5085T>G (p.Thr1695=) c.4863T>G (p.Thr1621=) c.4998T>G (p.Thr1666=) c.4962T>G (p.Thr1654=) c.5088T>G (p.Thr1696=) c.5016T>G (p.Thr1672=) c.5004T>G (p.Thr1668=) | |
| X | g.108157039A>G | CA518100644 | COL4A6 | c.5034T>C (p.Thr1678=) c.5037T>C (p.Thr1679=) c.5085T>C (p.Thr1695=) c.4863T>C (p.Thr1621=) c.4998T>C (p.Thr1666=) c.4962T>C (p.Thr1654=) c.5088T>C (p.Thr1696=) c.5016T>C (p.Thr1672=) c.5004T>C (p.Thr1668=) | |
| X | g.108157039A>T | CA518100643 | COL4A6 | c.5034T>A (p.Thr1678=) c.5037T>A (p.Thr1679=) c.5085T>A (p.Thr1695=) c.4863T>A (p.Thr1621=) c.4998T>A (p.Thr1666=) c.4962T>A (p.Thr1654=) c.5088T>A (p.Thr1696=) c.5016T>A (p.Thr1672=) c.5004T>A (p.Thr1668=) | |
| X | g.108157040G>A | CA413847957 | COL4A6 | c.5033C>T (p.Thr1678Ile) c.5036C>T (p.Thr1679Ile) c.5084C>T (p.Thr1695Ile) c.4862C>T (p.Thr1621Ile) c.4997C>T (p.Thr1666Ile) c.4961C>T (p.Thr1654Ile) c.5087C>T (p.Thr1696Ile) c.5015C>T (p.Thr1672Ile) c.5003C>T (p.Thr1668Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157040G>C | CA10487074 | COL4A6 | c.5033C>G (p.Thr1678Ser) c.5036C>G (p.Thr1679Ser) c.5084C>G (p.Thr1695Ser) c.4862C>G (p.Thr1621Ser) c.4997C>G (p.Thr1666Ser) c.4961C>G (p.Thr1654Ser) c.5087C>G (p.Thr1696Ser) c.5015C>G (p.Thr1672Ser) c.5003C>G (p.Thr1668Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157040G= | CA2450541938 | COL4A6 | c.5033C= (p.Thr1678=) c.5036C= (p.Thr1679=) c.5084C= (p.Thr1695=) c.4862C= (p.Thr1621=) c.4997C= (p.Thr1666=) c.4961C= (p.Thr1654=) c.5087C= (p.Thr1696=) c.5015C= (p.Thr1672=) c.5003C= (p.Thr1668=) | |
| X | g.108157040G>T | CA413847958 | COL4A6 | c.5033C>A (p.Thr1678Asn) c.5036C>A (p.Thr1679Asn) c.5084C>A (p.Thr1695Asn) c.4862C>A (p.Thr1621Asn) c.4997C>A (p.Thr1666Asn) c.4961C>A (p.Thr1654Asn) c.5087C>A (p.Thr1696Asn) c.5015C>A (p.Thr1672Asn) c.5003C>A (p.Thr1668Asn) | |
| X | g.108157041T>A | CA413847959 | COL4A6 | c.5032A>T (p.Thr1678Ser) c.5035A>T (p.Thr1679Ser) c.5083A>T (p.Thr1695Ser) c.4861A>T (p.Thr1621Ser) c.4996A>T (p.Thr1666Ser) c.4960A>T (p.Thr1654Ser) c.5086A>T (p.Thr1696Ser) c.5014A>T (p.Thr1672Ser) c.5002A>T (p.Thr1668Ser) | dbSNP |
| X | g.108157041T>C | CA413847960 | COL4A6 | c.5032A>G (p.Thr1678Ala) c.5035A>G (p.Thr1679Ala) c.5083A>G (p.Thr1695Ala) c.4861A>G (p.Thr1621Ala) c.4996A>G (p.Thr1666Ala) c.4960A>G (p.Thr1654Ala) c.5086A>G (p.Thr1696Ala) c.5014A>G (p.Thr1672Ala) c.5002A>G (p.Thr1668Ala) | |
| X | g.108157041T>G | CA413847961 | COL4A6 | c.5032A>C (p.Thr1678Pro) c.5035A>C (p.Thr1679Pro) c.5083A>C (p.Thr1695Pro) c.4861A>C (p.Thr1621Pro) c.4996A>C (p.Thr1666Pro) c.4960A>C (p.Thr1654Pro) c.5086A>C (p.Thr1696Pro) c.5014A>C (p.Thr1672Pro) c.5002A>C (p.Thr1668Pro) | gnomAD v4 |
| X | g.108157041T= | CA2450541939 | COL4A6 | c.5032A= (p.Thr1678=) c.5035A= (p.Thr1679=) c.5083A= (p.Thr1695=) c.4861A= (p.Thr1621=) c.4996A= (p.Thr1666=) c.4960A= (p.Thr1654=) c.5086A= (p.Thr1696=) c.5014A= (p.Thr1672=) c.5002A= (p.Thr1668=) | |
| X | g.108157042G>A | CA518100650 | COL4A6 | c.5031C>T (p.His1677=) c.5034C>T (p.His1678=) c.5082C>T (p.His1694=) c.4860C>T (p.His1620=) c.4995C>T (p.His1665=) c.4959C>T (p.His1653=) c.5085C>T (p.His1695=) c.5013C>T (p.His1671=) c.5001C>T (p.His1667=) | |
| X | g.108157042G>C | CA413847963 | COL4A6 | c.5031C>G (p.His1677Gln) c.5034C>G (p.His1678Gln) c.5082C>G (p.His1694Gln) c.4860C>G (p.His1620Gln) c.4995C>G (p.His1665Gln) c.4959C>G (p.His1653Gln) c.5085C>G (p.His1695Gln) c.5013C>G (p.His1671Gln) c.5001C>G (p.His1667Gln) | |
| X | g.108157042G>T | CA413847962 | COL4A6 | c.5031C>A (p.His1677Gln) c.5034C>A (p.His1678Gln) c.5082C>A (p.His1694Gln) c.4860C>A (p.His1620Gln) c.4995C>A (p.His1665Gln) c.4959C>A (p.His1653Gln) c.5085C>A (p.His1695Gln) c.5013C>A (p.His1671Gln) c.5001C>A (p.His1667Gln) | |
| X | g.108157043T>A | CA413847964 | COL4A6 | c.5030A>T (p.His1677Leu) c.5033A>T (p.His1678Leu) c.5081A>T (p.His1694Leu) c.4859A>T (p.His1620Leu) c.4994A>T (p.His1665Leu) c.4958A>T (p.His1653Leu) c.5084A>T (p.His1695Leu) c.5012A>T (p.His1671Leu) c.5000A>T (p.His1667Leu) | |
| X | g.108157043T>C | CA413847965 | COL4A6 | c.5030A>G (p.His1677Arg) c.5033A>G (p.His1678Arg) c.5081A>G (p.His1694Arg) c.4859A>G (p.His1620Arg) c.4994A>G (p.His1665Arg) c.4958A>G (p.His1653Arg) c.5084A>G (p.His1695Arg) c.5012A>G (p.His1671Arg) c.5000A>G (p.His1667Arg) | |
| X | g.108157043T>G | CA413847966 | COL4A6 | c.5030A>C (p.His1677Pro) c.5033A>C (p.His1678Pro) c.5081A>C (p.His1694Pro) c.4859A>C (p.His1620Pro) c.4994A>C (p.His1665Pro) c.4958A>C (p.His1653Pro) c.5084A>C (p.His1695Pro) c.5012A>C (p.His1671Pro) c.5000A>C (p.His1667Pro) | |
| X | g.108157044G>A | CA413847967 | COL4A6 | c.5029C>T (p.His1677Tyr) c.5032C>T (p.His1678Tyr) c.5080C>T (p.His1694Tyr) c.4858C>T (p.His1620Tyr) c.4993C>T (p.His1665Tyr) c.4957C>T (p.His1653Tyr) c.5083C>T (p.His1695Tyr) c.5011C>T (p.His1671Tyr) c.4999C>T (p.His1667Tyr) | |
| X | g.108157044G>C | CA413847968 | COL4A6 | c.5029C>G (p.His1677Asp) c.5032C>G (p.His1678Asp) c.5080C>G (p.His1694Asp) c.4858C>G (p.His1620Asp) c.4993C>G (p.His1665Asp) c.4957C>G (p.His1653Asp) c.5083C>G (p.His1695Asp) c.5011C>G (p.His1671Asp) c.4999C>G (p.His1667Asp) | |
| X | g.108157044G>T | CA413847969 | COL4A6 | c.5029C>A (p.His1677Asn) c.5032C>A (p.His1678Asn) c.5080C>A (p.His1694Asn) c.4858C>A (p.His1620Asn) c.4993C>A (p.His1665Asn) c.4957C>A (p.His1653Asn) c.5083C>A (p.His1695Asn) c.5011C>A (p.His1671Asn) c.4999C>A (p.His1667Asn) | |
| X | g.108157045G>A | CA518100659 | COL4A6 | c.5028C>T (p.Leu1676=) c.5031C>T (p.Leu1677=) c.5079C>T (p.Leu1693=) c.4857C>T (p.Leu1619=) c.4992C>T (p.Leu1664=) c.4956C>T (p.Leu1652=) c.5082C>T (p.Leu1694=) c.5010C>T (p.Leu1670=) c.4998C>T (p.Leu1666=) | |
| X | g.108157045G>C | CA518100657 | COL4A6 | c.5028C>G (p.Leu1676=) c.5031C>G (p.Leu1677=) c.5079C>G (p.Leu1693=) c.4857C>G (p.Leu1619=) c.4992C>G (p.Leu1664=) c.4956C>G (p.Leu1652=) c.5082C>G (p.Leu1694=) c.5010C>G (p.Leu1670=) c.4998C>G (p.Leu1666=) | |
| X | g.108157045G>T | CA518100658 | COL4A6 | c.5028C>A (p.Leu1676=) c.5031C>A (p.Leu1677=) c.5079C>A (p.Leu1693=) c.4857C>A (p.Leu1619=) c.4992C>A (p.Leu1664=) c.4956C>A (p.Leu1652=) c.5082C>A (p.Leu1694=) c.5010C>A (p.Leu1670=) c.4998C>A (p.Leu1666=) | |
| X | g.108157046A>C | CA413847972 | COL4A6 | c.5027T>G (p.Leu1676Arg) c.5030T>G (p.Leu1677Arg) c.5078T>G (p.Leu1693Arg) c.4856T>G (p.Leu1619Arg) c.4991T>G (p.Leu1664Arg) c.4955T>G (p.Leu1652Arg) c.5081T>G (p.Leu1694Arg) c.5009T>G (p.Leu1670Arg) c.4997T>G (p.Leu1666Arg) | |
| X | g.108157046A>G | CA413847970 | COL4A6 | c.5027T>C (p.Leu1676Pro) c.5030T>C (p.Leu1677Pro) c.5078T>C (p.Leu1693Pro) c.4856T>C (p.Leu1619Pro) c.4991T>C (p.Leu1664Pro) c.4955T>C (p.Leu1652Pro) c.5081T>C (p.Leu1694Pro) c.5009T>C (p.Leu1670Pro) c.4997T>C (p.Leu1666Pro) | |
| X | g.108157046A>T | CA413847971 | COL4A6 | c.5027T>A (p.Leu1676His) c.5030T>A (p.Leu1677His) c.5078T>A (p.Leu1693His) c.4856T>A (p.Leu1619His) c.4991T>A (p.Leu1664His) c.4955T>A (p.Leu1652His) c.5081T>A (p.Leu1694His) c.5009T>A (p.Leu1670His) c.4997T>A (p.Leu1666His) | |
| X | g.108157047G>A | CA413847973 | COL4A6 | c.5026C>T (p.Leu1676Phe) c.5029C>T (p.Leu1677Phe) c.5077C>T (p.Leu1693Phe) c.4855C>T (p.Leu1619Phe) c.4990C>T (p.Leu1664Phe) c.4954C>T (p.Leu1652Phe) c.5080C>T (p.Leu1694Phe) c.5008C>T (p.Leu1670Phe) c.4996C>T (p.Leu1666Phe) | |
| X | g.108157047G>C | CA413847974 | COL4A6 | c.5026C>G (p.Leu1676Val) c.5029C>G (p.Leu1677Val) c.5077C>G (p.Leu1693Val) c.4855C>G (p.Leu1619Val) c.4990C>G (p.Leu1664Val) c.4954C>G (p.Leu1652Val) c.5080C>G (p.Leu1694Val) c.5008C>G (p.Leu1670Val) c.4996C>G (p.Leu1666Val) | |
| X | g.108157047G>T | CA413847975 | COL4A6 | c.5026C>A (p.Leu1676Ile) c.5029C>A (p.Leu1677Ile) c.5077C>A (p.Leu1693Ile) c.4855C>A (p.Leu1619Ile) c.4990C>A (p.Leu1664Ile) c.4954C>A (p.Leu1652Ile) c.5080C>A (p.Leu1694Ile) c.5008C>A (p.Leu1670Ile) c.4996C>A (p.Leu1666Ile) | |
| X | g.108157048C>A | CA413847976 | COL4A6 | c.5025G>T (p.Gln1675His) c.5028G>T (p.Gln1676His) c.5076G>T (p.Gln1692His) c.4854G>T (p.Gln1618His) c.4989G>T (p.Gln1663His) c.4953G>T (p.Gln1651His) c.5079G>T (p.Gln1693His) c.5007G>T (p.Gln1669His) c.4995G>T (p.Gln1665His) | |
| X | g.108157048C>G | CA413847977 | COL4A6 | c.5025G>C (p.Gln1675His) c.5028G>C (p.Gln1676His) c.5076G>C (p.Gln1692His) c.4854G>C (p.Gln1618His) c.4989G>C (p.Gln1663His) c.4953G>C (p.Gln1651His) c.5079G>C (p.Gln1693His) c.5007G>C (p.Gln1669His) c.4995G>C (p.Gln1665His) | |
| X | g.108157048C>T | CA518100663 | COL4A6 | c.5025G>A (p.Gln1675=) c.5028G>A (p.Gln1676=) c.5076G>A (p.Gln1692=) c.4854G>A (p.Gln1618=) c.4989G>A (p.Gln1663=) c.4953G>A (p.Gln1651=) c.5079G>A (p.Gln1693=) c.5007G>A (p.Gln1669=) c.4995G>A (p.Gln1665=) | |
| X | g.108157049T>A | CA413847978 | COL4A6 | c.5024A>T (p.Gln1675Leu) c.5027A>T (p.Gln1676Leu) c.5075A>T (p.Gln1692Leu) c.4853A>T (p.Gln1618Leu) c.4988A>T (p.Gln1663Leu) c.4952A>T (p.Gln1651Leu) c.5078A>T (p.Gln1693Leu) c.5006A>T (p.Gln1669Leu) c.4994A>T (p.Gln1665Leu) | |
| X | g.108157049T>C | CA413847980 | COL4A6 | c.5024A>G (p.Gln1675Arg) c.5027A>G (p.Gln1676Arg) c.5075A>G (p.Gln1692Arg) c.4853A>G (p.Gln1618Arg) c.4988A>G (p.Gln1663Arg) c.4952A>G (p.Gln1651Arg) c.5078A>G (p.Gln1693Arg) c.5006A>G (p.Gln1669Arg) c.4994A>G (p.Gln1665Arg) | |
| X | g.108157049T>G | CA413847979 | COL4A6 | c.5024A>C (p.Gln1675Pro) c.5027A>C (p.Gln1676Pro) c.5075A>C (p.Gln1692Pro) c.4853A>C (p.Gln1618Pro) c.4988A>C (p.Gln1663Pro) c.4952A>C (p.Gln1651Pro) c.5078A>C (p.Gln1693Pro) c.5006A>C (p.Gln1669Pro) c.4994A>C (p.Gln1665Pro) | |
| X | g.108157050G>A | CA413847981 | COL4A6 | c.5023C>T (p.Gln1675Ter) c.5026C>T (p.Gln1676Ter) c.5074C>T (p.Gln1692Ter) c.4852C>T (p.Gln1618Ter) c.4987C>T (p.Gln1663Ter) c.4951C>T (p.Gln1651Ter) c.5077C>T (p.Gln1693Ter) c.5005C>T (p.Gln1669Ter) c.4993C>T (p.Gln1665Ter) | |
| X | g.108157050G>C | CA413847982 | COL4A6 | c.5023C>G (p.Gln1675Glu) c.5026C>G (p.Gln1676Glu) c.5074C>G (p.Gln1692Glu) c.4852C>G (p.Gln1618Glu) c.4987C>G (p.Gln1663Glu) c.4951C>G (p.Gln1651Glu) c.5077C>G (p.Gln1693Glu) c.5005C>G (p.Gln1669Glu) c.4993C>G (p.Gln1665Glu) | |
| X | g.108157050G>T | CA413847983 | COL4A6 | c.5023C>A (p.Gln1675Lys) c.5026C>A (p.Gln1676Lys) c.5074C>A (p.Gln1692Lys) c.4852C>A (p.Gln1618Lys) c.4987C>A (p.Gln1663Lys) c.4951C>A (p.Gln1651Lys) c.5077C>A (p.Gln1693Lys) c.5005C>A (p.Gln1669Lys) c.4993C>A (p.Gln1665Lys) | |
| X | g.108157051C>A | CA518100669 | COL4A6 | c.5022G>T (p.Gly1674=) c.5025G>T (p.Gly1675=) c.5073G>T (p.Gly1691=) c.4851G>T (p.Gly1617=) c.4986G>T (p.Gly1662=) c.4950G>T (p.Gly1650=) c.5076G>T (p.Gly1692=) c.5004G>T (p.Gly1668=) c.4992G>T (p.Gly1664=) | |
| X | g.108157051C>G | CA518100667 | COL4A6 | c.5022G>C (p.Gly1674=) c.5025G>C (p.Gly1675=) c.5073G>C (p.Gly1691=) c.4851G>C (p.Gly1617=) c.4986G>C (p.Gly1662=) c.4950G>C (p.Gly1650=) c.5076G>C (p.Gly1692=) c.5004G>C (p.Gly1668=) c.4992G>C (p.Gly1664=) | |
| X | g.108157051C>T | CA518100668 | COL4A6 | c.5022G>A (p.Gly1674=) c.5025G>A (p.Gly1675=) c.5073G>A (p.Gly1691=) c.4851G>A (p.Gly1617=) c.4986G>A (p.Gly1662=) c.4950G>A (p.Gly1650=) c.5076G>A (p.Gly1692=) c.5004G>A (p.Gly1668=) c.4992G>A (p.Gly1664=) | |
| X | g.108157052C>A | CA413847984 | COL4A6 | c.5021G>T (p.Gly1674Val) c.5024G>T (p.Gly1675Val) c.5072G>T (p.Gly1691Val) c.4850G>T (p.Gly1617Val) c.4985G>T (p.Gly1662Val) c.4949G>T (p.Gly1650Val) c.5075G>T (p.Gly1692Val) c.5003G>T (p.Gly1668Val) c.4991G>T (p.Gly1664Val) | |
| X | g.108157052C>G | CA413847985 | COL4A6 | c.5021G>C (p.Gly1674Ala) c.5024G>C (p.Gly1675Ala) c.5072G>C (p.Gly1691Ala) c.4850G>C (p.Gly1617Ala) c.4985G>C (p.Gly1662Ala) c.4949G>C (p.Gly1650Ala) c.5075G>C (p.Gly1692Ala) c.5003G>C (p.Gly1668Ala) c.4991G>C (p.Gly1664Ala) | |
| X | g.108157052C>T | CA413847986 | COL4A6 | c.5021G>A (p.Gly1674Glu) c.5024G>A (p.Gly1675Glu) c.5072G>A (p.Gly1691Glu) c.4850G>A (p.Gly1617Glu) c.4985G>A (p.Gly1662Glu) c.4949G>A (p.Gly1650Glu) c.5075G>A (p.Gly1692Glu) c.5003G>A (p.Gly1668Glu) c.4991G>A (p.Gly1664Glu) | gnomAD v4 |
| X | g.108157053C>A | CA413847987 | COL4A6 | c.5020G>T (p.Gly1674Trp) c.5023G>T (p.Gly1675Trp) c.5071G>T (p.Gly1691Trp) c.4849G>T (p.Gly1617Trp) c.4984G>T (p.Gly1662Trp) c.4948G>T (p.Gly1650Trp) c.5074G>T (p.Gly1692Trp) c.5002G>T (p.Gly1668Trp) c.4990G>T (p.Gly1664Trp) | COSMIC COSMIC COSMIC |
| X | g.108157053C>G | CA413847988 | COL4A6 | c.5020G>C (p.Gly1674Arg) c.5023G>C (p.Gly1675Arg) c.5071G>C (p.Gly1691Arg) c.4849G>C (p.Gly1617Arg) c.4984G>C (p.Gly1662Arg) c.4948G>C (p.Gly1650Arg) c.5074G>C (p.Gly1692Arg) c.5002G>C (p.Gly1668Arg) c.4990G>C (p.Gly1664Arg) | |
| X | g.108157053C>T | CA413847989 | COL4A6 | c.5020G>A (p.Gly1674Arg) c.5023G>A (p.Gly1675Arg) c.5071G>A (p.Gly1691Arg) c.4849G>A (p.Gly1617Arg) c.4984G>A (p.Gly1662Arg) c.4948G>A (p.Gly1650Arg) c.5074G>A (p.Gly1692Arg) c.5002G>A (p.Gly1668Arg) c.4990G>A (p.Gly1664Arg) |