UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108156914G>A | CA2694428770 | COL4A6 | c.*86C>T (n.*86C>T) | gnomAD v4 |
| X | g.108156914G>T | CA2694428771 | COL4A6 | c.*86C>A (n.*86C>A) | gnomAD v4 |
| X | g.108156915C>A | CA2579674547 | COL4A6 | c.*85G>T (n.*85G>T) | gnomAD v4 |
| X | g.108156920_108156923del | CA2694428772 | COL4A6 | c.*82_*85del (n.*82_*85del) | gnomAD v4 |
| X | g.108156916C>A | CA2694428773 | COL4A6 | c.*84G>T (n.*84G>T) | gnomAD v4 |
| X | g.108156916C>T | CA2579674548 | COL4A6 | c.*84G>A (n.*84G>A) | |
| X | g.108156917T>G | CA2450541891 | COL4A6 | c.*83A>C (n.*83A>C) | dbSNP |
| X | g.108156917T= | CA2450541890 | COL4A6 | c.*83A= (n.*83A=) | |
| X | g.108156918T>G | CA1136174464 | COL4A6 | c.*82A>C (n.*82A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108156918T= | CA2450541892 | COL4A6 | c.*82A= (n.*82A=) | |
| X | g.108156919C>A | CA2694428774 | COL4A6 | c.*81G>T (n.*81G>T) | gnomAD v4 |
| X | g.108156920C= | CA2450541893 | COL4A6 | c.*80G= (n.*80G=) | |
| X | g.108156920C>T | CA1136174470 | COL4A6 | c.*80G>A (n.*80G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108156922T>G | CA2450541895 | COL4A6 | c.*78A>C (n.*78A>C) | dbSNP gnomAD v4 |
| X | g.108156922T= | CA2450541894 | COL4A6 | c.*78A= (n.*78A=) | |
| X | g.108156928G>T | CA2694428775 | COL4A6 | c.*72C>A (n.*72C>A) | gnomAD v4 |
| X | g.108156929A= | CA2450541896 | COL4A6 | c.*71T= (n.*71T=) | |
| X | g.108156929A>G | CA2579674549 | COL4A6 | c.*71T>C (n.*71T>C) | |
| X | g.108156929A>T | CA334033847 | COL4A6 | c.*71T>A (n.*71T>A) | dbSNP gnomAD v4 |
| X | g.108156930C>A | CA2694428776 | COL4A6 | c.*70G>T (n.*70G>T) | gnomAD v4 |
| X | g.108156930C= | CA2450541897 | COL4A6 | c.*70G= (n.*70G=) | |
| X | g.108156930C>T | CA334033851 | COL4A6 | c.*70G>A (n.*70G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108156931C>A | CA2539625078 | COL4A6 | c.*69G>T (n.*69G>T) | gnomAD v4 |
| X | g.108156931C>T | CA2822887516 | COL4A6 | c.*69G>A (n.*69G>A) | |
| X | g.108156932A>G | CA2694428777 | COL4A6 | c.*68T>C (n.*68T>C) | gnomAD v4 |
| X | g.108156933T>G | CA2822887517 | COL4A6 | c.*67A>C (n.*67A>C) | |
| X | g.108156935C>A | CA2528465745 | COL4A6 | c.*65G>T (n.*65G>T) | |
| X | g.108156936A>G | CA2694428778 | COL4A6 | c.*64T>C (n.*64T>C) | gnomAD v4 |
| X | g.108156937G>T | CA2579674550 | COL4A6 | c.*63C>A (n.*63C>A) | gnomAD v4 |
| X | g.108156938G>T | CA2694428779 | COL4A6 | c.*62C>A (n.*62C>A) | gnomAD v4 |
| X | g.108156939T>G | CA2579674551 | COL4A6 | c.*61A>C (n.*61A>C) | gnomAD v4 |
| X | g.108156942G>T | CA2579674552 | COL4A6 | c.*58C>A (n.*58C>A) | |
| X | g.108156943T>C | CA2579674553 | COL4A6 | c.*57A>G (n.*57A>G) | |
| X | g.108156943T>G | CA2694428780 | COL4A6 | c.*57A>C (n.*57A>C) | gnomAD v4 |
| X | g.108156944G>A | CA1136174474 | COL4A6 | c.*56C>T (n.*56C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108156944G= | CA2450541898 | COL4A6 | c.*56C= (n.*56C=) | |
| X | g.108156946G>A | CA2694428781 | COL4A6 | c.*54C>T (n.*54C>T) | gnomAD v4 |
| X | g.108156947G>A | CA2694428782 | COL4A6 | c.*53C>T (n.*53C>T) | gnomAD v4 |
| X | g.108156948T>G | CA2450541900 | COL4A6 | c.*52A>C (n.*52A>C) | dbSNP |
| X | g.108156948T= | CA2450541899 | COL4A6 | c.*52A= (n.*52A=) | |
| X | g.108156949G>T | CA2579674554 | COL4A6 | c.*51C>A (n.*51C>A) | |
| X | g.108156951C= | CA2450541901 | COL4A6 | c.*49G= (n.*49G=) | |
| X | g.108156951C>T | CA2694428783 | COL4A6 | c.*49G>A (n.*49G>A) | gnomAD v4 |
| 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=) |