Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.110168320_110172666del | CA2580616537 | COL4A1 | c.3556+54_3877-1090del c.3364+54_3685-1090del | ClinVar |
13 | g.110169453_110169461delinsCAAGAAAGA | CA2118732494 | COL4A1 | c.3876+168_3876+176delinsTCTTTCTTG (n.3876+168_3876+176delinsTCTTTCTTG) c.32+168_32+176delinsTCTTTCTTG c.3684+168_3684+176delinsTCTTTCTTG (n.3684+168_3684+176delinsTCTTTCTTG) | |
13 | g.110169467_110169470dup | CA2118732499 | COL4A1 | c.3876+172_3876+175dup (n.3876+172_3876+175dup) c.32+172_32+175dup c.3684+172_3684+175dup (n.3684+172_3684+175dup) | dbSNP |
13 | g.110169467_110169470del | CA256250597 | COL4A1 | c.3876+172_3876+175del (n.3876+172_3876+175del) c.32+172_32+175del c.3684+172_3684+175del (n.3684+172_3684+175del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169463_110169470del | CA695031605 | COL4A1 | c.3876+168_3876+175del (n.3876+168_3876+175del) c.32+168_32+175del c.3684+168_3684+175del (n.3684+168_3684+175del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169457_110169460delinsAAAG | CA2118732501 | COL4A1 | c.3876+169_3876+172delinsCTTT (n.3876+169_3876+172delinsCTTT) c.32+169_32+172delinsCTTT c.3684+169_3684+172delinsCTTT (n.3684+169_3684+172delinsCTTT) | |
13 | g.110169458_110169460delinsAAG | CA2118732505 | COL4A1 | c.3876+169_3876+171delinsCTT (n.3876+169_3876+171delinsCTT) c.32+169_32+171delinsCTT c.3684+169_3684+171delinsCTT (n.3684+169_3684+171delinsCTT) | |
13 | g.110169460_110169462del | CA695031614 | COL4A1 | c.3876+169_3876+171del (n.3876+169_3876+171del) c.32+169_32+171del c.3684+169_3684+171del (n.3684+169_3684+171del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169460_110169461del | CA2118732507 | COL4A1 | c.3876+169_3876+170del (n.3876+169_3876+170del) c.32+169_32+170del c.3684+169_3684+170del (n.3684+169_3684+170del) | dbSNP |
13 | g.110169460G>A | CA960159646 | COL4A1 | c.3876+169C>T (n.3876+169C>T) c.32+169C>T c.3684+169C>T (n.3684+169C>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169460G>C | CA655772427 | COL4A1 | c.3876+169C>G (n.3876+169C>G) c.32+169C>G c.3684+169C>G (n.3684+169C>G) | COSMIC |
13 | g.110169460G= | CA2118732513 | COL4A1 | c.3876+169C= (n.3876+169C=) c.32+169C= c.3684+169C= (n.3684+169C=) | |
13 | g.110169460G>T | CA2544625250 | COL4A1 | c.3876+169C>A (n.3876+169C>A) c.32+169C>A c.3684+169C>A (n.3684+169C>A) | |
13 | g.110169460_110169462delinsGAA | CA2118732510 | COL4A1 | c.3876+167_3876+169delinsTTC (n.3876+167_3876+169delinsTTC) c.32+167_32+169delinsTTC c.3684+167_3684+169delinsTTC (n.3684+167_3684+169delinsTTC) | |
13 | g.110169460_110169463delinsGAAA | CA2118732511 | COL4A1 | c.3876+166_3876+169delinsTTTC (n.3876+166_3876+169delinsTTTC) c.32+166_32+169delinsTTTC c.3684+166_3684+169delinsTTTC (n.3684+166_3684+169delinsTTTC) | |
13 | g.110169461_110169463del | CA960159649 | COL4A1 | c.3876+166_3876+168del (n.3876+166_3876+168del) c.32+166_32+168del c.3684+166_3684+168del (n.3684+166_3684+168del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169462_110169463del | CA612622554 | COL4A1 | c.3876+167_3876+168del (n.3876+167_3876+168del) c.32+167_32+168del c.3684+167_3684+168del (n.3684+167_3684+168del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169462_110169468delinsAAGAAAG | CA2118732515 | COL4A1 | c.3876+161_3876+167delinsCTTTCTT (n.3876+161_3876+167delinsCTTTCTT) c.32+161_32+167delinsCTTTCTT c.3684+161_3684+167delinsCTTTCTT (n.3684+161_3684+167delinsCTTTCTT) | |
13 | g.110169464_110169469del | CA2118732517 | COL4A1 | c.3876+161_3876+166del (n.3876+161_3876+166del) c.32+161_32+166del c.3684+161_3684+166del (n.3684+161_3684+166del) | dbSNP |
13 | g.110169464_110169466delinsGAA | CA2118732518 | COL4A1 | c.3876+163_3876+165delinsTTC (n.3876+163_3876+165delinsTTC) c.32+163_32+165delinsTTC c.3684+163_3684+165delinsTTC (n.3684+163_3684+165delinsTTC) | |
13 | g.110169465A= | CA2118732520 | COL4A1 | c.3876+164T= (n.3876+164T=) c.32+164T= c.3684+164T= (n.3684+164T=) | |
13 | g.110169465A>G | CA695031637 | COL4A1 | c.3876+164T>C (n.3876+164T>C) c.32+164T>C c.3684+164T>C (n.3684+164T>C) | dbSNP |
13 | g.110169467del | CA960159652 | COL4A1 | c.3876+164del (n.3876+164del) c.32+164del c.3684+164del (n.3684+164del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169466_110169467del | CA612622555 | COL4A1 | c.3876+163_3876+164del (n.3876+163_3876+164del) c.32+163_32+164del c.3684+163_3684+164del (n.3684+163_3684+164del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169466A= | CA2118732522 | COL4A1 | c.3876+163T= (n.3876+163T=) c.32+163T= c.3684+163T= (n.3684+163T=) | |
13 | g.110169466A>G | CA256250605 | COL4A1 | c.3876+163T>C (n.3876+163T>C) c.32+163T>C c.3684+163T>C (n.3684+163T>C) | dbSNP |
13 | g.110169467A= | CA2118732524 | COL4A1 | c.3876+162T= (n.3876+162T=) c.32+162T= c.3684+162T= (n.3684+162T=) | |
13 | g.110169467A>C | CA256250609 | COL4A1 | c.3876+162T>G (n.3876+162T>G) c.32+162T>G c.3684+162T>G (n.3684+162T>G) | dbSNP |
13 | g.110169468G>A | CA256250610 | COL4A1 | c.3876+161C>T (n.3876+161C>T) c.32+161C>T c.3684+161C>T (n.3684+161C>T) | dbSNP |
13 | g.110169468G= | CA2118732526 | COL4A1 | c.3876+161C= (n.3876+161C=) c.32+161C= c.3684+161C= (n.3684+161C=) | |
13 | g.110169468G>T | CA256250613 | COL4A1 | c.3876+161C>A (n.3876+161C>A) c.32+161C>A c.3684+161C>A (n.3684+161C>A) | dbSNP |
13 | g.110169468_110169471del | CA2729123183 | COL4A1 | c.3876+158_3876+161del (n.3876+158_3876+161del) c.32+158_32+161del c.3684+158_3684+161del (n.3684+158_3684+161del) | dbSNP |
13 | g.110169472T>C | CA960159654 | COL4A1 | c.3876+157A>G (n.3876+157A>G) c.32+157A>G c.3684+157A>G (n.3684+157A>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169472T= | CA2118732528 | COL4A1 | c.3876+157A= (n.3876+157A=) c.32+157A= c.3684+157A= (n.3684+157A=) | |
13 | g.110169473G>T | CA2556844597 | COL4A1 | c.3876+156C>A (n.3876+156C>A) c.32+156C>A c.3684+156C>A (n.3684+156C>A) | |
13 | g.110169475T= | CA2118732529 | COL4A1 | c.3876+154A= (n.3876+154A=) c.32+154A= c.3684+154A= (n.3684+154A=) | |
13 | g.110169475_110169476insA | CA2118732530 | COL4A1 | c.3876+153_3876+154insT (n.3876+153_3876+154insT) c.32+153_32+154insT c.3684+153_3684+154insT (n.3684+153_3684+154insT) | dbSNP |
13 | g.110169478A>C | CA2623672613 | COL4A1 | c.3876+151T>G (n.3876+151T>G) c.32+151T>G c.3684+151T>G (n.3684+151T>G) | gnomAD v4 |
13 | g.110169479G>C | CA2623672614 | COL4A1 | c.3876+150C>G (n.3876+150C>G) c.32+150C>G c.3684+150C>G (n.3684+150C>G) | gnomAD v4 |
13 | g.110169479G>T | CA2623672615 | COL4A1 | c.3876+150C>A (n.3876+150C>A) c.32+150C>A c.3684+150C>A (n.3684+150C>A) | gnomAD v4 |
13 | g.110169480T>A | CA2623672616 | COL4A1 | c.3876+149A>T (n.3876+149A>T) c.32+149A>T c.3684+149A>T (n.3684+149A>T) | gnomAD v4 |
13 | g.110169481G>A | CA2118732533 | COL4A1 | c.3876+148C>T (n.3876+148C>T) c.32+148C>T c.3684+148C>T (n.3684+148C>T) | dbSNP gnomAD v4 |
13 | g.110169481G= | CA2118732531 | COL4A1 | c.3876+148C= (n.3876+148C=) c.32+148C= c.3684+148C= (n.3684+148C=) | |
13 | g.110169481G>T | CA2623672617 | COL4A1 | c.3876+148C>A (n.3876+148C>A) c.32+148C>A c.3684+148C>A (n.3684+148C>A) | gnomAD v4 |
13 | g.110169484del | CA2623672618 | COL4A1 | c.3876+148del (n.3876+148del) c.32+148del c.3684+148del (n.3684+148del) | gnomAD v4 |
13 | g.110169482G>A | CA2118732535 | COL4A1 | c.3876+147C>T (n.3876+147C>T) c.32+147C>T c.3684+147C>T (n.3684+147C>T) | dbSNP gnomAD v4 |
13 | g.110169482G= | CA2118732534 | COL4A1 | c.3876+147C= (n.3876+147C=) c.32+147C= c.3684+147C= (n.3684+147C=) | |
13 | g.110169482G>T | CA2623672619 | COL4A1 | c.3876+147C>A (n.3876+147C>A) c.32+147C>A c.3684+147C>A (n.3684+147C>A) | gnomAD v4 |
13 | g.110169483G>A | CA256250621 | COL4A1 | c.3876+146C>T (n.3876+146C>T) c.32+146C>T c.3684+146C>T (n.3684+146C>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169483G= | CA2118732536 | COL4A1 | c.3876+146C= (n.3876+146C=) c.32+146C= c.3684+146C= (n.3684+146C=) | |
13 | g.110169483G>T | CA2623672620 | COL4A1 | c.3876+146C>A (n.3876+146C>A) c.32+146C>A c.3684+146C>A (n.3684+146C>A) | gnomAD v4 |
13 | g.110169484G>T | CA2623672621 | COL4A1 | c.3876+145C>A (n.3876+145C>A) c.32+145C>A c.3684+145C>A (n.3684+145C>A) | gnomAD v4 |
13 | g.110169485A>T | CA2623672622 | COL4A1 | c.3876+144T>A (n.3876+144T>A) c.32+144T>A c.3684+144T>A (n.3684+144T>A) | gnomAD v4 |
13 | g.110169486T>A | CA2623672623 | COL4A1 | c.3876+143A>T (n.3876+143A>T) c.32+143A>T c.3684+143A>T (n.3684+143A>T) | gnomAD v4 |
13 | g.110169487G>A | CA256250625 | COL4A1 | c.3876+142C>T (n.3876+142C>T) c.32+142C>T c.3684+142C>T (n.3684+142C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169487G= | CA2018048403 | COL4A1 | c.3876+142C= (n.3876+142C=) c.32+142C= c.3684+142C= (n.3684+142C=) | |
13 | g.110169487G>T | CA2623672624 | COL4A1 | c.3876+142C>A (n.3876+142C>A) c.32+142C>A c.3684+142C>A (n.3684+142C>A) | gnomAD v4 |
13 | g.110169488T>A | CA2623672625 | COL4A1 | c.3876+141A>T (n.3876+141A>T) c.32+141A>T c.3684+141A>T (n.3684+141A>T) | gnomAD v4 |
13 | g.110169488T>C | CA612622556 | COL4A1 | c.3876+141A>G (n.3876+141A>G) c.32+141A>G c.3684+141A>G (n.3684+141A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169488T= | CA2118732538 | COL4A1 | c.3876+141A= (n.3876+141A=) c.32+141A= c.3684+141A= (n.3684+141A=) | |
13 | g.110169489G>A | CA2516133794 | COL4A1 | c.3876+140C>T (n.3876+140C>T) c.32+140C>T c.3684+140C>T (n.3684+140C>T) | gnomAD v4 |
13 | g.110169489G>T | CA2623672626 | COL4A1 | c.3876+140C>A (n.3876+140C>A) c.32+140C>A c.3684+140C>A (n.3684+140C>A) | gnomAD v4 |
13 | g.110169490G>A | CA2623672627 | COL4A1 | c.3876+139C>T (n.3876+139C>T) c.32+139C>T c.3684+139C>T (n.3684+139C>T) | gnomAD v4 |
13 | g.110169490G>T | CA960159660 | COL4A1 | c.3876+139C>A (n.3876+139C>A) c.32+139C>A c.3684+139C>A (n.3684+139C>A) | gnomAD v3 gnomAD v4 |
13 | g.110169491G>A | CA2623672628 | COL4A1 | c.3876+138C>T (n.3876+138C>T) c.32+138C>T c.3684+138C>T (n.3684+138C>T) | gnomAD v4 |
13 | g.110169491G>C | CA695031647 | COL4A1 | c.3876+138C>G (n.3876+138C>G) c.32+138C>G c.3684+138C>G (n.3684+138C>G) | dbSNP |
13 | g.110169491G= | CA2118732540 | COL4A1 | c.3876+138C= (n.3876+138C=) c.32+138C= c.3684+138C= (n.3684+138C=) | |
13 | g.110169491G>T | CA2623672629 | COL4A1 | c.3876+138C>A (n.3876+138C>A) c.32+138C>A c.3684+138C>A (n.3684+138C>A) | gnomAD v4 |
13 | g.110169492A>G | CA2623672630 | COL4A1 | c.3876+137T>C (n.3876+137T>C) c.32+137T>C c.3684+137T>C (n.3684+137T>C) | gnomAD v4 |
13 | g.110169493G>A | CA2118732542 | COL4A1 | c.3876+136C>T (n.3876+136C>T) c.32+136C>T c.3684+136C>T (n.3684+136C>T) | dbSNP gnomAD v4 |
13 | g.110169493G= | CA2118732541 | COL4A1 | c.3876+136C= (n.3876+136C=) c.32+136C= c.3684+136C= (n.3684+136C=) | |
13 | g.110169493G>T | CA2623672631 | COL4A1 | c.3876+136C>A (n.3876+136C>A) c.32+136C>A c.3684+136C>A (n.3684+136C>A) | gnomAD v4 |
13 | g.110169494T>A | CA2623672632 | COL4A1 | c.3876+135A>T (n.3876+135A>T) c.32+135A>T c.3684+135A>T (n.3684+135A>T) | gnomAD v4 |
13 | g.110169494T>C | CA2623672633 | COL4A1 | c.3876+135A>G (n.3876+135A>G) c.32+135A>G c.3684+135A>G (n.3684+135A>G) | gnomAD v4 |
13 | g.110169494T>G | CA2623672634 | COL4A1 | c.3876+135A>C (n.3876+135A>C) c.32+135A>C c.3684+135A>C (n.3684+135A>C) | gnomAD v4 |
13 | g.110169495G>A | CA256250629 | COL4A1 | c.3876+134C>T (n.3876+134C>T) c.32+134C>T c.3684+134C>T (n.3684+134C>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169495G= | CA2118732543 | COL4A1 | c.3876+134C= (n.3876+134C=) c.32+134C= c.3684+134C= (n.3684+134C=) | |
13 | g.110169495G>T | CA2623672635 | COL4A1 | c.3876+134C>A (n.3876+134C>A) c.32+134C>A c.3684+134C>A (n.3684+134C>A) | gnomAD v4 |
13 | g.110169496T>A | CA2623672637 | COL4A1 | c.3876+133A>T (n.3876+133A>T) c.32+133A>T c.3684+133A>T (n.3684+133A>T) | gnomAD v4 |
13 | g.110169496T>G | CA256250637 | COL4A1 | c.3876+133A>C (n.3876+133A>C) c.32+133A>C c.3684+133A>C (n.3684+133A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169496T= | CA2118732544 | COL4A1 | c.3876+133A= (n.3876+133A=) c.32+133A= c.3684+133A= (n.3684+133A=) | |
13 | g.110169496dup | CA2623672636 | COL4A1 | c.3876+133dup (n.3876+133dup) c.32+133dup c.3684+133dup (n.3684+133dup) | gnomAD v4 |
13 | g.110169496_110169497insC | CA612622557 | COL4A1 | c.3876+132_3876+133insG (n.3876+132_3876+133insG) c.32+132_32+133insG c.3684+132_3684+133insG (n.3684+132_3684+133insG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169496_110169497insG | CA2623672638 | COL4A1 | c.3876+132_3876+133insC (n.3876+132_3876+133insC) c.32+132_32+133insC c.3684+132_3684+133insC (n.3684+132_3684+133insC) | gnomAD v4 |
13 | g.110169496_110169497insCACACA | CA2118732545 | COL4A1 | c.3876+132_3876+133insTGTGTG (n.3876+132_3876+133insTGTGTG) c.32+132_32+133insTGTGTG c.3684+132_3684+133insTGTGTG (n.3684+132_3684+133insTGTGTG) | dbSNP |
13 | g.110169497A= | CA2118732547 | COL4A1 | c.3876+132T= (n.3876+132T=) c.32+132T= c.3684+132T= (n.3684+132T=) | |
13 | g.110169497A>C | CA695031652 | COL4A1 | c.3876+132T>G (n.3876+132T>G) c.32+132T>G c.3684+132T>G (n.3684+132T>G) | dbSNP gnomAD v4 |
13 | g.110169497_110169500dup | CA2538653243 | COL4A1 | c.3876+129_3876+132dup (n.3876+129_3876+132dup) c.32+129_32+132dup c.3684+129_3684+132dup (n.3684+129_3684+132dup) | dbSNP gnomAD v4 |
13 | g.110169497_110169511delinsAACACACACACACAC | CA2118732546 | COL4A1 | c.3876+118_3876+132delinsGTGTGTGTGTGTGTT (n.3876+118_3876+132delinsGTGTGTGTGTGTGTT) c.32+118_32+132delinsGTGTGTGTGTGTGTT c.3684+118_3684+132delinsGTGTGTGTGTGTGTT (n.3684+118_3684+132delinsGTGTGTGTGTGTGTT) | |
13 | g.110169497_110169498insC | CA2623672641 | COL4A1 | c.3876+131_3876+132insG (n.3876+131_3876+132insG) c.32+131_32+132insG c.3684+131_3684+132insG (n.3684+131_3684+132insG) | gnomAD v4 |
13 | g.110169497_110169498insCAC | CA2623672642 | COL4A1 | c.3876+131_3876+132insGTG (n.3876+131_3876+132insGTG) c.32+131_32+132insGTG c.3684+131_3684+132insGTG (n.3684+131_3684+132insGTG) | gnomAD v4 |
13 | g.110169497_110169498insGCAC | CA2623672644 | COL4A1 | c.3876+131_3876+132insGTGC (n.3876+131_3876+132insGTGC) c.32+131_32+132insGTGC c.3684+131_3684+132insGTGC (n.3684+131_3684+132insGTGC) | gnomAD v4 |
13 | g.110169497_110169498insCACAC | CA960159691 | COL4A1 | c.3876+131_3876+132insGTGTG (n.3876+131_3876+132insGTGTG) c.32+131_32+132insGTGTG c.3684+131_3684+132insGTGTG (n.3684+131_3684+132insGTGTG) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169497_110169498insCACACAC | CA2623672643 | COL4A1 | c.3876+131_3876+132insGTGTGTG (n.3876+131_3876+132insGTGTGTG) c.32+131_32+132insGTGTGTG c.3684+131_3684+132insGTGTGTG (n.3684+131_3684+132insGTGTGTG) | gnomAD v4 |
13 | g.110169498A>T | CA2800580973 | COL4A1 | c.3876+131T>A (n.3876+131T>A) c.32+131T>A c.3684+131T>A (n.3684+131T>A) | |
13 | g.110169498_110169499insTA | CA2623672646 | COL4A1 | c.3876+131_3876+132insAT (n.3876+131_3876+132insAT) c.32+131_32+132insAT c.3684+131_3684+132insAT (n.3684+131_3684+132insAT) | gnomAD v4 |
13 | g.110169498_110169499insTACACA | CA2623672639 | COL4A1 | c.3876+131_3876+132insGTGTAT (n.3876+131_3876+132insGTGTAT) c.32+131_32+132insGTGTAT c.3684+131_3684+132insGTGTAT (n.3684+131_3684+132insGTGTAT) | gnomAD v4 |
13 | g.110169498_110169499insTACACACACA | CA2623672640 | COL4A1 | c.3876+131_3876+132insGTGTGTGTAT (n.3876+131_3876+132insGTGTGTGTAT) c.32+131_32+132insGTGTGTGTAT c.3684+131_3684+132insGTGTGTGTAT (n.3684+131_3684+132insGTGTGTGTAT) | gnomAD v4 |
13 | g.110169499_110169500insTAACAC | CA2623672651 | COL4A1 | c.3876+131_3876+132insGTTAGT (n.3876+131_3876+132insGTTAGT) c.32+131_32+132insGTTAGT c.3684+131_3684+132insGTTAGT (n.3684+131_3684+132insGTTAGT) | gnomAD v4 |
13 | g.110169499_110169500insTAACACACAC | CA2623672652 | COL4A1 | c.3876+131_3876+132insGTGTGTTAGT (n.3876+131_3876+132insGTGTGTTAGT) c.32+131_32+132insGTGTGTTAGT c.3684+131_3684+132insGTGTGTTAGT (n.3684+131_3684+132insGTGTGTTAGT) | gnomAD v4 |
13 | g.110169502_110169503insTACACA | CA2623672650 | COL4A1 | c.3876+131_3876+132insATGTGT (n.3876+131_3876+132insATGTGT) c.32+131_32+132insATGTGT c.3684+131_3684+132insATGTGT (n.3684+131_3684+132insATGTGT) | gnomAD v4 |
13 | g.110169504_110169505insTACACACA | CA2623672649 | COL4A1 | c.3876+131_3876+132insATGTGTGT (n.3876+131_3876+132insATGTGTGT) c.32+131_32+132insATGTGTGT c.3684+131_3684+132insATGTGTGT (n.3684+131_3684+132insATGTGTGT) | gnomAD v4 |
13 | g.110169504_110169505insGACACACACACACA | CA2623672648 | COL4A1 | c.3876+131_3876+132insGTGTGTCTGTGTGT (n.3876+131_3876+132insGTGTGTCTGTGTGT) c.32+131_32+132insGTGTGTCTGTGTGT c.3684+131_3684+132insGTGTGTCTGTGTGT (n.3684+131_3684+132insGTGTGTCTGTGTGT) | gnomAD v4 |
13 | g.110169525_110169526dup | CA256250642 | COL4A1 | c.3876+130_3876+131dup (n.3876+130_3876+131dup) c.32+130_32+131dup c.3684+130_3684+131dup (n.3684+130_3684+131dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169523_110169526dup | CA256250646 | COL4A1 | c.3876+128_3876+131dup (n.3876+128_3876+131dup) c.32+128_32+131dup c.3684+128_3684+131dup (n.3684+128_3684+131dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169521_110169526dup | CA256250649 | COL4A1 | c.3876+126_3876+131dup (n.3876+126_3876+131dup) c.32+126_32+131dup c.3684+126_3684+131dup (n.3684+126_3684+131dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169519_110169526dup | CA484788691 | COL4A1 | c.3876+124_3876+131dup (n.3876+124_3876+131dup) c.32+124_32+131dup c.3684+124_3684+131dup (n.3684+124_3684+131dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169517_110169526dup | CA612622559 | COL4A1 | c.3876+122_3876+131dup (n.3876+122_3876+131dup) c.32+122_32+131dup c.3684+122_3684+131dup (n.3684+122_3684+131dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169515_110169526dup | CA612622558 | COL4A1 | c.3876+120_3876+131dup (n.3876+120_3876+131dup) c.32+120_32+131dup c.3684+120_3684+131dup (n.3684+120_3684+131dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169513_110169526dup | CA695031689 | COL4A1 | c.3876+118_3876+131dup (n.3876+118_3876+131dup) c.32+118_32+131dup c.3684+118_3684+131dup (n.3684+118_3684+131dup) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169511_110169526dup | CA695031683 | COL4A1 | c.3876+116_3876+131dup (n.3876+116_3876+131dup) c.32+116_32+131dup c.3684+116_3684+131dup (n.3684+116_3684+131dup) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169509_110169526dup | CA695031682 | COL4A1 | c.3876+114_3876+131dup (n.3876+114_3876+131dup) c.32+114_32+131dup c.3684+114_3684+131dup (n.3684+114_3684+131dup) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169507_110169526dup | CA2118732553 | COL4A1 | c.3876+112_3876+131dup (n.3876+112_3876+131dup) c.32+112_32+131dup c.3684+112_3684+131dup (n.3684+112_3684+131dup) | dbSNP gnomAD v4 |
13 | g.110169503_110169526dup | CA2623672647 | COL4A1 | c.3876+108_3876+131dup (n.3876+108_3876+131dup) c.32+108_32+131dup c.3684+108_3684+131dup (n.3684+108_3684+131dup) | gnomAD v4 |
13 | g.110169525_110169526del | CA695031667 | COL4A1 | c.3876+130_3876+131del (n.3876+130_3876+131del) c.32+130_32+131del c.3684+130_3684+131del (n.3684+130_3684+131del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169523_110169526del | CA695031679 | COL4A1 | c.3876+128_3876+131del (n.3876+128_3876+131del) c.32+128_32+131del c.3684+128_3684+131del (n.3684+128_3684+131del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169521_110169526del | CA695031672 | COL4A1 | c.3876+126_3876+131del (n.3876+126_3876+131del) c.32+126_32+131del c.3684+126_3684+131del (n.3684+126_3684+131del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169519_110169526del | CA960159686 | COL4A1 | c.3876+124_3876+131del (n.3876+124_3876+131del) c.32+124_32+131del c.3684+124_3684+131del (n.3684+124_3684+131del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169517_110169526del | CA695031669 | COL4A1 | c.3876+122_3876+131del (n.3876+122_3876+131del) c.32+122_32+131del c.3684+122_3684+131del (n.3684+122_3684+131del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169515_110169526del | CA960159681 | COL4A1 | c.3876+120_3876+131del (n.3876+120_3876+131del) c.32+120_32+131del c.3684+120_3684+131del (n.3684+120_3684+131del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169513_110169526del | CA2118732559 | COL4A1 | c.3876+118_3876+131del (n.3876+118_3876+131del) c.32+118_32+131del c.3684+118_3684+131del (n.3684+118_3684+131del) | dbSNP gnomAD v4 |
13 | g.110169511_110169526del | CA2623672645 | COL4A1 | c.3876+116_3876+131del (n.3876+116_3876+131del) c.32+116_32+131del c.3684+116_3684+131del (n.3684+116_3684+131del) | gnomAD v4 |
13 | g.110169499del | CA2800580974 | COL4A1 | c.3876+130del (n.3876+130del) c.32+130del c.3684+130del (n.3684+130del) | |
13 | g.110169499C>A | CA2800580975 | COL4A1 | c.3876+130G>T (n.3876+130G>T) c.32+130G>T c.3684+130G>T (n.3684+130G>T) | |
13 | g.110169501_110169502insCCAC | CA2729123203 | COL4A1 | c.3876+130_3876+131insGGTG (n.3876+130_3876+131insGGTG) c.32+130_32+131insGGTG c.3684+130_3684+131insGGTG (n.3684+130_3684+131insGGTG) | dbSNP |
13 | g.110169500A>T | CA2623672656 | COL4A1 | c.3876+129T>A (n.3876+129T>A) c.32+129T>A c.3684+129T>A (n.3684+129T>A) | gnomAD v4 |
13 | g.110169500_110169501insAA | CA2623672653 | COL4A1 | c.3876+129_3876+130insTT (n.3876+129_3876+130insTT) c.32+129_32+130insTT c.3684+129_3684+130insTT (n.3684+129_3684+130insTT) | gnomAD v4 |
13 | g.110169500_110169501insTA | CA2623672655 | COL4A1 | c.3876+129_3876+130insAT (n.3876+129_3876+130insAT) c.32+129_32+130insAT c.3684+129_3684+130insAT (n.3684+129_3684+130insAT) | gnomAD v4 |
13 | g.110169502_110169503insGACA | CA2800580976 | COL4A1 | c.3876+129_3876+130insCTGT (n.3876+129_3876+130insCTGT) c.32+129_32+130insCTGT c.3684+129_3684+130insCTGT (n.3684+129_3684+130insCTGT) | |
13 | g.110169502_110169503insTACA | CA2623672654 | COL4A1 | c.3876+129_3876+130insATGT (n.3876+129_3876+130insATGT) c.32+129_32+130insATGT c.3684+129_3684+130insATGT (n.3684+129_3684+130insATGT) | gnomAD v4 |
13 | g.110169501C= | CA2118732562 | COL4A1 | c.3876+128G= (n.3876+128G=) c.32+128G= c.3684+128G= (n.3684+128G=) | |
13 | g.110169501C>T | CA695031692 | COL4A1 | c.3876+128G>A (n.3876+128G>A) c.32+128G>A c.3684+128G>A (n.3684+128G>A) | dbSNP |
13 | g.110169501_110169502insTC | CA612622560 | COL4A1 | c.3876+128_3876+129insAG (n.3876+128_3876+129insAG) c.32+128_32+129insAG c.3684+128_3684+129insAG (n.3684+128_3684+129insAG) | gnomAD v2 |
13 | g.110169503_110169504insTCAC | CA2800580977 | COL4A1 | c.3876+128_3876+129insAGTG (n.3876+128_3876+129insAGTG) c.32+128_32+129insAGTG c.3684+128_3684+129insAGTG (n.3684+128_3684+129insAGTG) | |
13 | g.110169507_110169508insGCACACAC | CA2623672657 | COL4A1 | c.3876+128_3876+129insCGTGTGTG (n.3876+128_3876+129insCGTGTGTG) c.32+128_32+129insCGTGTGTG c.3684+128_3684+129insCGTGTGTG (n.3684+128_3684+129insCGTGTGTG) | gnomAD v4 |
13 | g.110169502_110169503insAA | CA2800580978 | COL4A1 | c.3876+127_3876+128insTT (n.3876+127_3876+128insTT) c.32+127_32+128insTT c.3684+127_3684+128insTT (n.3684+127_3684+128insTT) | |
13 | g.110169502_110169503insTA | CA2800580979 | COL4A1 | c.3876+127_3876+128insAT (n.3876+127_3876+128insAT) c.32+127_32+128insAT c.3684+127_3684+128insAT (n.3684+127_3684+128insAT) | |
13 | g.110169504_110169505insAACA | CA2623672658 | COL4A1 | c.3876+127_3876+128insTTGT (n.3876+127_3876+128insTTGT) c.32+127_32+128insTTGT c.3684+127_3684+128insTTGT (n.3684+127_3684+128insTTGT) | dbSNP gnomAD v4 |
13 | g.110169503C= | CA2118732563 | COL4A1 | c.3876+126G= (n.3876+126G=) c.32+126G= c.3684+126G= (n.3684+126G=) | |
13 | g.110169503dup | CA612622561 | COL4A1 | c.3876+126dup (n.3876+126dup) c.32+126dup c.3684+126dup (n.3684+126dup) | gnomAD v2 |
13 | g.110169504A= | CA2118732565 | COL4A1 | c.3876+125T= (n.3876+125T=) c.32+125T= c.3684+125T= (n.3684+125T=) | |
13 | g.110169504_110169505insTA | CA2118732566 | COL4A1 | c.3876+125_3876+126insAT (n.3876+125_3876+126insAT) c.32+125_32+126insAT c.3684+125_3684+126insAT (n.3684+125_3684+126insAT) | dbSNP |
13 | g.110169506_110169507insAACA | CA2729123292 | COL4A1 | c.3876+125_3876+126insTTGT (n.3876+125_3876+126insTTGT) c.32+125_32+126insTTGT c.3684+125_3684+126insTTGT (n.3684+125_3684+126insTTGT) | dbSNP |
13 | g.110169506_110169507insGACA | CA2729123306 | COL4A1 | c.3876+125_3876+126insCTGT (n.3876+125_3876+126insCTGT) c.32+125_32+126insCTGT c.3684+125_3684+126insCTGT (n.3684+125_3684+126insCTGT) | dbSNP |
13 | g.110169506_110169507insTACA | CA2800580980 | COL4A1 | c.3876+125_3876+126insATGT (n.3876+125_3876+126insATGT) c.32+125_32+126insATGT c.3684+125_3684+126insATGT (n.3684+125_3684+126insATGT) | |
13 | g.110169510_110169511insTACACACA | CA2623672659 | COL4A1 | c.3876+125_3876+126insATGTGTGT (n.3876+125_3876+126insATGTGTGT) c.32+125_32+126insATGTGTGT c.3684+125_3684+126insATGTGTGT (n.3684+125_3684+126insATGTGTGT) | gnomAD v4 |
13 | g.110169504_110169505insTGTGTGTGTGTGTGT | CA695031698 | COL4A1 | c.3876+124_3876+125insACACACACACACACA (n.3876+124_3876+125insACACACACACACACA) c.32+124_32+125insACACACACACACACA c.3684+124_3684+125insACACACACACACACA (n.3684+124_3684+125insACACACACACACACA) | dbSNP |
13 | g.110169505C>T | CA2623672660 | COL4A1 | c.3876+124G>A (n.3876+124G>A) c.32+124G>A c.3684+124G>A (n.3684+124G>A) | gnomAD v4 |
13 | g.110169507_110169508insGCAC | CA2623672661 | COL4A1 | c.3876+124_3876+125insCGTG (n.3876+124_3876+125insCGTG) c.32+124_32+125insCGTG c.3684+124_3684+125insCGTG (n.3684+124_3684+125insCGTG) | gnomAD v4 |
13 | g.110169506A>C | CA612622562 | COL4A1 | c.3876+123T>G (n.3876+123T>G) c.32+123T>G c.3684+123T>G (n.3684+123T>G) | gnomAD v2 |
13 | g.110169507C>A | CA2800580981 | COL4A1 | c.3876+122G>T (n.3876+122G>T) c.32+122G>T c.3684+122G>T (n.3684+122G>T) | |
13 | g.110169507C= | CA2118732568 | COL4A1 | c.3876+122G= (n.3876+122G=) c.32+122G= c.3684+122G= (n.3684+122G=) | |
13 | g.110169507_110169508insTC | CA2623672662 | COL4A1 | c.3876+122_3876+123insAG (n.3876+122_3876+123insAG) c.32+122_32+123insAG c.3684+122_3684+123insAG (n.3684+122_3684+123insAG) | gnomAD v4 |
13 | g.110169509_110169510insGCAC | CA2729123335 | COL4A1 | c.3876+122_3876+123insCGTG (n.3876+122_3876+123insCGTG) c.32+122_32+123insCGTG c.3684+122_3684+123insCGTG (n.3684+122_3684+123insCGTG) | dbSNP |
13 | g.110169509_110169510insTCAC | CA2729123314 | COL4A1 | c.3876+122_3876+123insAGTG (n.3876+122_3876+123insAGTG) c.32+122_32+123insAGTG c.3684+122_3684+123insAGTG (n.3684+122_3684+123insAGTG) | dbSNP |
13 | g.110169511_110169512insGCACAC | CA960159699 | COL4A1 | c.3876+122_3876+123insCGTGTG (n.3876+122_3876+123insCGTGTG) c.32+122_32+123insCGTGTG c.3684+122_3684+123insCGTGTG (n.3684+122_3684+123insCGTGTG) | gnomAD v3 gnomAD v4 |
13 | g.110169508A= | CA2118732569 | COL4A1 | c.3876+121T= (n.3876+121T=) c.32+121T= c.3684+121T= (n.3684+121T=) | |
13 | g.110169508_110169509insTA | CA2800580982 | COL4A1 | c.3876+121_3876+122insAT (n.3876+121_3876+122insAT) c.32+121_32+122insAT c.3684+121_3684+122insAT (n.3684+121_3684+122insAT) | |
13 | g.110169512_110169513insTACACA | CA2623672663 | COL4A1 | c.3876+121_3876+122insATGTGT (n.3876+121_3876+122insATGTGT) c.32+121_32+122insATGTGT c.3684+121_3684+122insATGTGT (n.3684+121_3684+122insATGTGT) | gnomAD v4 |
13 | g.110169514_110169515insTACACACA | CA695031702 | COL4A1 | c.3876+121_3876+122insATGTGTGT (n.3876+121_3876+122insATGTGTGT) c.32+121_32+122insATGTGTGT c.3684+121_3684+122insATGTGTGT (n.3684+121_3684+122insATGTGTGT) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169511_110169512insCCAC | CA2800580983 | COL4A1 | c.3876+120_3876+121insGGTG (n.3876+120_3876+121insGGTG) c.32+120_32+121insGGTG c.3684+120_3684+121insGGTG (n.3684+120_3684+121insGGTG) | |
13 | g.110169517_110169518insGCACACACAC | CA960159703 | COL4A1 | c.3876+120_3876+121insCGTGTGTGTG (n.3876+120_3876+121insCGTGTGTGTG) c.32+120_32+121insCGTGTGTGTG c.3684+120_3684+121insCGTGTGTGTG (n.3684+120_3684+121insCGTGTGTGTG) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169510_110169511delinsAC | CA2118732570 | COL4A1 | c.3876+118_3876+119delinsGT (n.3876+118_3876+119delinsGT) c.32+118_32+119delinsGT c.3684+118_3684+119delinsGT (n.3684+118_3684+119delinsGT) | |
13 | g.110169512_110169513insAACA | CA2623672664 | COL4A1 | c.3876+119_3876+120insTTGT (n.3876+119_3876+120insTTGT) c.32+119_32+120insTTGT c.3684+119_3684+120insTTGT (n.3684+119_3684+120insTTGT) | gnomAD v4 |
13 | g.110169511del | CA612622563 | COL4A1 | c.3876+118del (n.3876+118del) c.32+118del c.3684+118del (n.3684+118del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169511C>A | CA256250659 | COL4A1 | c.3876+118G>T (n.3876+118G>T) c.32+118G>T c.3684+118G>T (n.3684+118G>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169511C= | CA2118732572 | COL4A1 | c.3876+118G= (n.3876+118G=) c.32+118G= c.3684+118G= (n.3684+118G=) | |
13 | g.110169511C>T | CA2623672668 | COL4A1 | c.3876+118G>A (n.3876+118G>A) c.32+118G>A c.3684+118G>A (n.3684+118G>A) | gnomAD v4 |
13 | g.110169513_110169514insCCAC | CA2729123603 | COL4A1 | c.3876+118_3876+119insGGTG (n.3876+118_3876+119insGGTG) c.32+118_32+119insGGTG c.3684+118_3684+119insGGTG (n.3684+118_3684+119insGGTG) | dbSNP |
13 | g.110169513_110169514insTCAC | CA2623672667 | COL4A1 | c.3876+118_3876+119insAGTG (n.3876+118_3876+119insAGTG) c.32+118_32+119insAGTG c.3684+118_3684+119insAGTG (n.3684+118_3684+119insAGTG) | dbSNP gnomAD v4 |
13 | g.110169519_110169520insGCACACACAC | CA2623672666 | COL4A1 | c.3876+118_3876+119insCGTGTGTGTG (n.3876+118_3876+119insCGTGTGTGTG) c.32+118_32+119insCGTGTGTGTG c.3684+118_3684+119insCGTGTGTGTG (n.3684+118_3684+119insCGTGTGTGTG) | gnomAD v4 |
13 | g.110169521_110169522insGCACACACACAC | CA2623672665 | COL4A1 | c.3876+118_3876+119insCGTGTGTGTGTG (n.3876+118_3876+119insCGTGTGTGTGTG) c.32+118_32+119insCGTGTGTGTGTG c.3684+118_3684+119insCGTGTGTGTGTG (n.3684+118_3684+119insCGTGTGTGTGTG) | gnomAD v4 |
13 | g.110169511_110169512insCCCAAACACACCCA | CA2800580984 | COL4A1 | c.3876+117_3876+118insTGGGTGTGTTTGGG (n.3876+117_3876+118insTGGGTGTGTTTGGG) c.32+117_32+118insTGGGTGTGTTTGGG c.3684+117_3684+118insTGGGTGTGTTTGGG (n.3684+117_3684+118insTGGGTGTGTTTGGG) | |
13 | g.110169512_110169513insGA | CA2623672670 | COL4A1 | c.3876+117_3876+118insCT (n.3876+117_3876+118insCT) c.32+117_32+118insCT c.3684+117_3684+118insCT (n.3684+117_3684+118insCT) | gnomAD v4 |
13 | g.110169512_110169513delinsAC | CA2118732574 | COL4A1 | c.3876+116_3876+117delinsGT (n.3876+116_3876+117delinsGT) c.32+116_32+117delinsGT c.3684+116_3684+117delinsGT (n.3684+116_3684+117delinsGT) | |
13 | g.110169514_110169515insAACA | CA2623672673 | COL4A1 | c.3876+117_3876+118insTTGT (n.3876+117_3876+118insTTGT) c.32+117_32+118insTTGT c.3684+117_3684+118insTTGT (n.3684+117_3684+118insTTGT) | gnomAD v4 |
13 | g.110169514_110169515insTACA | CA2623672669 | COL4A1 | c.3876+117_3876+118insATGT (n.3876+117_3876+118insATGT) c.32+117_32+118insATGT c.3684+117_3684+118insATGT (n.3684+117_3684+118insATGT) | gnomAD v4 |
13 | g.110169516_110169517insAACACA | CA2623672672 | COL4A1 | c.3876+117_3876+118insTTGTGT (n.3876+117_3876+118insTTGTGT) c.32+117_32+118insTTGTGT c.3684+117_3684+118insTTGTGT (n.3684+117_3684+118insTTGTGT) | gnomAD v4 |
13 | g.110169516_110169517insTACACA | CA2623672671 | COL4A1 | c.3876+117_3876+118insATGTGT (n.3876+117_3876+118insATGTGT) c.32+117_32+118insATGTGT c.3684+117_3684+118insATGTGT (n.3684+117_3684+118insATGTGT) | dbSNP gnomAD v4 |
13 | g.110169513del | CA612622564 | COL4A1 | c.3876+116del (n.3876+116del) c.32+116del c.3684+116del (n.3684+116del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169513C>A | CA256250664 | COL4A1 | c.3876+116G>T (n.3876+116G>T) c.32+116G>T c.3684+116G>T (n.3684+116G>T) | dbSNP |
13 | g.110169513C= | CA2118732575 | COL4A1 | c.3876+116G= (n.3876+116G=) c.32+116G= c.3684+116G= (n.3684+116G=) | |
13 | g.110169515_110169516insGCAC | CA2729123641 | COL4A1 | c.3876+116_3876+117insCGTG (n.3876+116_3876+117insCGTG) c.32+116_32+117insCGTG c.3684+116_3684+117insCGTG (n.3684+116_3684+117insCGTG) | dbSNP |
13 | g.110169514A= | CA2118732578 | COL4A1 | c.3876+115T= (n.3876+115T=) c.32+115T= c.3684+115T= (n.3684+115T=) | |
13 | g.110169518_110169519insTACACA | CA2118732577 | COL4A1 | c.3876+115_3876+116insATGTGT (n.3876+115_3876+116insATGTGT) c.32+115_32+116insATGTGT c.3684+115_3684+116insATGTGT (n.3684+115_3684+116insATGTGT) | dbSNP |
13 | g.110169515C>A | CA2118732580 | COL4A1 | c.3876+114G>T (n.3876+114G>T) c.32+114G>T c.3684+114G>T (n.3684+114G>T) | dbSNP gnomAD v4 |
13 | g.110169515C= | CA2118732581 | COL4A1 | c.3876+114G= (n.3876+114G=) c.32+114G= c.3684+114G= (n.3684+114G=) | |
13 | g.110169517_110169518insCCAC | CA2118732582 | COL4A1 | c.3876+114_3876+115insGGTG (n.3876+114_3876+115insGGTG) c.32+114_32+115insGGTG c.3684+114_3684+115insGGTG (n.3684+114_3684+115insGGTG) | dbSNP gnomAD v4 |
13 | g.110169517_110169518insGCAC | CA2728955901 | COL4A1 | c.3876+114_3876+115insCGTG (n.3876+114_3876+115insCGTG) c.32+114_32+115insCGTG c.3684+114_3684+115insCGTG (n.3684+114_3684+115insCGTG) | dbSNP |
13 | g.110169516A= | CA2118732584 | COL4A1 | c.3876+113T= (n.3876+113T=) c.32+113T= c.3684+113T= (n.3684+113T=) | |
13 | g.110169516_110169517insAA | CA2623672674 | COL4A1 | c.3876+113_3876+114insTT (n.3876+113_3876+114insTT) c.32+113_32+114insTT c.3684+113_3684+114insTT (n.3684+113_3684+114insTT) | gnomAD v4 |
13 | g.110169516_110169517insTA | CA2600370163 | COL4A1 | c.3876+113_3876+114insAT (n.3876+113_3876+114insAT) c.32+113_32+114insAT c.3684+113_3684+114insAT (n.3684+113_3684+114insAT) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169518_110169519insAACA | CA612622565 | COL4A1 | c.3876+113_3876+114insTTGT (n.3876+113_3876+114insTTGT) c.32+113_32+114insTTGT c.3684+113_3684+114insTTGT (n.3684+113_3684+114insTTGT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169520_110169521insGACACA | CA612622566 | COL4A1 | c.3876+113_3876+114insCTGTGT (n.3876+113_3876+114insCTGTGT) c.32+113_32+114insCTGTGT c.3684+113_3684+114insCTGTGT (n.3684+113_3684+114insCTGTGT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169517_110169528del | CA2623672675 | COL4A1 | c.3876+102_3876+113del (n.3876+102_3876+113del) c.32+102_32+113del c.3684+102_3684+113del (n.3684+102_3684+113del) | gnomAD v4 |
13 | g.110169516_110169517insAC | CA256250667 | COL4A1 | c.3876+112_3876+113insGT (n.3876+112_3876+113insGT) c.32+112_32+113insGT c.3684+112_3684+113insGT (n.3684+112_3684+113insGT) | dbSNP |
13 | g.110169517C= | CA2118732586 | COL4A1 | c.3876+112G= (n.3876+112G=) c.32+112G= c.3684+112G= (n.3684+112G=) | |
13 | g.110169517C>T | CA2118732587 | COL4A1 | c.3876+112G>A (n.3876+112G>A) c.32+112G>A c.3684+112G>A (n.3684+112G>A) | dbSNP gnomAD v4 |
13 | g.110169517_110169527delinsCACACACACAT | CA2118732588 | COL4A1 | c.3876+102_3876+112delinsATGTGTGTGTG (n.3876+102_3876+112delinsATGTGTGTGTG) c.32+102_32+112delinsATGTGTGTGTG c.3684+102_3684+112delinsATGTGTGTGTG (n.3684+102_3684+112delinsATGTGTGTGTG) | |
13 | g.110169518A>T | CA2526556295 | COL4A1 | c.3876+111T>A (n.3876+111T>A) c.32+111T>A c.3684+111T>A (n.3684+111T>A) | |
13 | g.110169518_110169519insTA | CA2623672676 | COL4A1 | c.3876+111_3876+112insAT (n.3876+111_3876+112insAT) c.32+111_32+112insAT c.3684+111_3684+112insAT (n.3684+111_3684+112insAT) | gnomAD v4 |
13 | g.110169519_110169528del | CA2118732589 | COL4A1 | c.3876+102_3876+111del (n.3876+102_3876+111del) c.32+102_32+111del c.3684+102_3684+111del (n.3684+102_3684+111del) | dbSNP gnomAD v4 |
13 | g.110169519C>A | CA2623672678 | COL4A1 | c.3876+110G>T (n.3876+110G>T) c.32+110G>T c.3684+110G>T (n.3684+110G>T) | gnomAD v4 |
13 | g.110169519_110169520insGC | CA2623672677 | COL4A1 | c.3876+110_3876+111insCG (n.3876+110_3876+111insCG) c.32+110_32+111insCG c.3684+110_3684+111insCG (n.3684+110_3684+111insCG) | gnomAD v4 |
13 | g.110169521_110169522insCCAC | CA2729123646 | COL4A1 | c.3876+110_3876+111insGGTG (n.3876+110_3876+111insGGTG) c.32+110_32+111insGGTG c.3684+110_3684+111insGGTG (n.3684+110_3684+111insGGTG) | dbSNP |
13 | g.110169522_110169523insTACA | CA2623672679 | COL4A1 | c.3876+109_3876+110insATGT (n.3876+109_3876+110insATGT) c.32+109_32+110insATGT c.3684+109_3684+110insATGT (n.3684+109_3684+110insATGT) | dbSNP gnomAD v4 |
13 | g.110169521_110169528del | CA2623672680 | COL4A1 | c.3876+102_3876+109del (n.3876+102_3876+109del) c.32+102_32+109del c.3684+102_3684+109del (n.3684+102_3684+109del) | gnomAD v4 |
13 | g.110169521C>T | CA2623672681 | COL4A1 | c.3876+108G>A (n.3876+108G>A) c.32+108G>A c.3684+108G>A (n.3684+108G>A) | gnomAD v4 |
13 | g.110169523_110169524insGCAC | CA2729123653 | COL4A1 | c.3876+108_3876+109insCGTG (n.3876+108_3876+109insCGTG) c.32+108_32+109insCGTG c.3684+108_3684+109insCGTG (n.3684+108_3684+109insCGTG) | dbSNP |
13 | g.110169521_110169527delinsCACACAT | CA2118732590 | COL4A1 | c.3876+102_3876+108delinsATGTGTG (n.3876+102_3876+108delinsATGTGTG) c.32+102_32+108delinsATGTGTG c.3684+102_3684+108delinsATGTGTG (n.3684+102_3684+108delinsATGTGTG) | |
13 | g.110169524_110169525insAACA | CA2729123719 | COL4A1 | c.3876+107_3876+108insTTGT (n.3876+107_3876+108insTTGT) c.32+107_32+108insTTGT c.3684+107_3684+108insTTGT (n.3684+107_3684+108insTTGT) | dbSNP |
13 | g.110169524_110169525insTACA | CA2623672682 | COL4A1 | c.3876+107_3876+108insATGT (n.3876+107_3876+108insATGT) c.32+107_32+108insATGT c.3684+107_3684+108insATGT (n.3684+107_3684+108insATGT) | dbSNP gnomAD v4 |
13 | g.110169523_110169528del | CA695031720 | COL4A1 | c.3876+102_3876+107del (n.3876+102_3876+107del) c.32+102_32+107del c.3684+102_3684+107del (n.3684+102_3684+107del) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169523C= | CA2118732592 | COL4A1 | c.3876+106G= (n.3876+106G=) c.32+106G= c.3684+106G= (n.3684+106G=) | |
13 | g.110169523C>T | CA655772448 | COL4A1 | c.3876+106G>A (n.3876+106G>A) c.32+106G>A c.3684+106G>A (n.3684+106G>A) | gnomAD v4 COSMIC COSMIC |
13 | g.110169523_110169527delinsCACAT | CA2118732593 | COL4A1 | c.3876+102_3876+106delinsATGTG (n.3876+102_3876+106delinsATGTG) c.32+102_32+106delinsATGTG c.3684+102_3684+106delinsATGTG (n.3684+102_3684+106delinsATGTG) | |
13 | g.110169526_110169527insAACA | CA256250675 | COL4A1 | c.3876+105_3876+106insTTGT (n.3876+105_3876+106insTTGT) c.32+105_32+106insTTGT c.3684+105_3684+106insTTGT (n.3684+105_3684+106insTTGT) | dbSNP |
13 | g.110169526_110169527insCAAACA | CA256250679 | COL4A1 | c.3876+105_3876+106insTTGTGT (n.3876+105_3876+106insTTGTGT) c.32+105_32+106insTTGTGT c.3684+105_3684+106insTTGTGT (n.3684+105_3684+106insTTGTGT) | dbSNP |
13 | g.110169525_110169528del | CA612622567 | COL4A1 | c.3876+102_3876+105del (n.3876+102_3876+105del) c.32+102_32+105del c.3684+102_3684+105del (n.3684+102_3684+105del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169525C= | CA2118732595 | COL4A1 | c.3876+104G= (n.3876+104G=) c.32+104G= c.3684+104G= (n.3684+104G=) | |
13 | g.110169525C>T | CA256250683 | COL4A1 | c.3876+104G>A (n.3876+104G>A) c.32+104G>A c.3684+104G>A (n.3684+104G>A) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
13 | g.110169526_110169527insCGCA | CA2729123727 | COL4A1 | c.3876+104_3876+105insCGTG (n.3876+104_3876+105insCGTG) c.32+104_32+105insCGTG c.3684+104_3684+105insCGTG (n.3684+104_3684+105insCGTG) | dbSNP |
13 | g.110169525_110169527delinsCAT | CA2118732597 | COL4A1 | c.3876+102_3876+104delinsATG (n.3876+102_3876+104delinsATG) c.32+102_32+104delinsATG c.3684+102_3684+104delinsATG (n.3684+102_3684+104delinsATG) | |
13 | g.110169526A= | CA2118732601 | COL4A1 | c.3876+103T= (n.3876+103T=) c.32+103T= c.3684+103T= (n.3684+103T=) | |
13 | g.110169526_110169527insCAAA | CA2623672691 | COL4A1 | c.3876+103_3876+104insTTGT (n.3876+103_3876+104insTTGT) c.32+103_32+104insTTGT c.3684+103_3684+104insTTGT (n.3684+103_3684+104insTTGT) | dbSNP gnomAD v4 |
13 | g.110169526_110169527insCATA | CA695031760 | COL4A1 | c.3876+103_3876+104insATGT (n.3876+103_3876+104insATGT) c.32+103_32+104insATGT c.3684+103_3684+104insATGT (n.3684+103_3684+104insATGT) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169526_110169527insCACAAA | CA2623672690 | COL4A1 | c.3876+103_3876+104insTTGTGT (n.3876+103_3876+104insTTGTGT) c.32+103_32+104insTTGTGT c.3684+103_3684+104insTTGTGT (n.3684+103_3684+104insTTGTGT) | gnomAD v4 |
13 | g.110169526_110169527insCACATA | CA612622569 | COL4A1 | c.3876+103_3876+104insATGTGT (n.3876+103_3876+104insATGTGT) c.32+103_32+104insATGTGT c.3684+103_3684+104insATGTGT (n.3684+103_3684+104insATGTGT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169526_110169527insCACACATA | CA960159717 | COL4A1 | c.3876+103_3876+104insATGTGTGT (n.3876+103_3876+104insATGTGTGT) c.32+103_32+104insATGTGTGT c.3684+103_3684+104insATGTGTGT (n.3684+103_3684+104insATGTGTGT) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169526_110169527insCACATATA | CA695031761 | COL4A1 | c.3876+103_3876+104insATATGTGT (n.3876+103_3876+104insATATGTGT) c.32+103_32+104insATATGTGT c.3684+103_3684+104insATATGTGT (n.3684+103_3684+104insATATGTGT) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169526_110169527insCACACACATA | CA612622570 | COL4A1 | c.3876+103_3876+104insATGTGTGTGT (n.3876+103_3876+104insATGTGTGTGT) c.32+103_32+104insATGTGTGTGT c.3684+103_3684+104insATGTGTGTGT (n.3684+103_3684+104insATGTGTGTGT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169526_110169527insCACACACACATA | CA695031763 | COL4A1 | c.3876+103_3876+104insATGTGTGTGTGT (n.3876+103_3876+104insATGTGTGTGTGT) c.32+103_32+104insATGTGTGTGTGT c.3684+103_3684+104insATGTGTGTGTGT (n.3684+103_3684+104insATGTGTGTGTGT) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169526_110169527insCACACACATATA | CA2623672687 | COL4A1 | c.3876+103_3876+104insATATGTGTGTGT (n.3876+103_3876+104insATATGTGTGTGT) c.32+103_32+104insATATGTGTGTGT c.3684+103_3684+104insATATGTGTGTGT (n.3684+103_3684+104insATATGTGTGTGT) | gnomAD v4 |
13 | g.110169526_110169527insCACACACACACATA | CA2623672688 | COL4A1 | c.3876+103_3876+104insATGTGTGTGTGTGT (n.3876+103_3876+104insATGTGTGTGTGTGT) c.32+103_32+104insATGTGTGTGTGTGT c.3684+103_3684+104insATGTGTGTGTGTGT (n.3684+103_3684+104insATGTGTGTGTGTGT) | gnomAD v4 |
13 | g.110169526_110169527insCACACACACACACATA | CA2623672689 | COL4A1 | c.3876+103_3876+104insATGTGTGTGTGTGTGT (n.3876+103_3876+104insATGTGTGTGTGTGTGT) c.32+103_32+104insATGTGTGTGTGTGTGT c.3684+103_3684+104insATGTGTGTGTGTGTGT (n.3684+103_3684+104insATGTGTGTGTGTGTGT) | gnomAD v4 |
13 | g.110169533_110169534dup | CA612622568 | COL4A1 | c.3876+102_3876+103dup (n.3876+102_3876+103dup) c.32+102_32+103dup c.3684+102_3684+103dup (n.3684+102_3684+103dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169531_110169534dup | CA2118732602 | COL4A1 | c.3876+100_3876+103dup (n.3876+100_3876+103dup) c.32+100_32+103dup c.3684+100_3684+103dup (n.3684+100_3684+103dup) | dbSNP gnomAD v4 |
13 | g.110169533_110169534del | CA612622571 | COL4A1 | c.3876+102_3876+103del (n.3876+102_3876+103del) c.32+102_32+103del c.3684+102_3684+103del (n.3684+102_3684+103del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169531_110169534del | CA2623672683 | COL4A1 | c.3876+100_3876+103del (n.3876+100_3876+103del) c.32+100_32+103del c.3684+100_3684+103del (n.3684+100_3684+103del) | gnomAD v4 |
13 | g.110169529_110169534del | CA2623672684 | COL4A1 | c.3876+98_3876+103del (n.3876+98_3876+103del) c.32+98_32+103del c.3684+98_3684+103del (n.3684+98_3684+103del) | gnomAD v4 |
13 | g.110169527_110169534del | CA2623672685 | COL4A1 | c.3876+96_3876+103del (n.3876+96_3876+103del) c.32+96_32+103del c.3684+96_3684+103del (n.3684+96_3684+103del) | gnomAD v4 |
13 | g.110169527_110169538del | CA2623672686 | COL4A1 | c.3876+92_3876+103del (n.3876+92_3876+103del) c.32+92_32+103del c.3684+92_3684+103del (n.3684+92_3684+103del) | gnomAD v4 |
13 | g.110169526_110169527insCACC | CA2728906533 | COL4A1 | c.3876+102_3876+103insGGTG (n.3876+102_3876+103insGGTG) c.32+102_32+103insGGTG c.3684+102_3684+103insGGTG (n.3684+102_3684+103insGGTG) | dbSNP |
13 | g.110169526_110169527insCACACAC | CA612622572 | COL4A1 | c.3876+102_3876+103insGTGTGTG (n.3876+102_3876+103insGTGTGTG) c.32+102_32+103insGTGTGTG c.3684+102_3684+103insGTGTGTG (n.3684+102_3684+103insGTGTGTG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169526_110169527insCACACACT | CA2623672694 | COL4A1 | c.3876+102_3876+103insAGTGTGTG (n.3876+102_3876+103insAGTGTGTG) c.32+102_32+103insAGTGTGTG c.3684+102_3684+103insAGTGTGTG (n.3684+102_3684+103insAGTGTGTG) | gnomAD v4 |
13 | g.110169527del | CA2800580985 | COL4A1 | c.3876+102del (n.3876+102del) c.32+102del c.3684+102del (n.3684+102del) | |
13 | g.110169527T>A | CA2623672693 | COL4A1 | c.3876+102A>T (n.3876+102A>T) c.32+102A>T c.3684+102A>T (n.3684+102A>T) | gnomAD v4 |
13 | g.110169527T>C | CA256250687 | COL4A1 | c.3876+102A>G (n.3876+102A>G) c.32+102A>G c.3684+102A>G (n.3684+102A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169527T>G | CA2623672692 | COL4A1 | c.3876+102A>C (n.3876+102A>C) c.32+102A>C c.3684+102A>C (n.3684+102A>C) | gnomAD v4 |
13 | g.110169527T= | CA2118732606 | COL4A1 | c.3876+102A= (n.3876+102A=) c.32+102A= c.3684+102A= (n.3684+102A=) | |
13 | g.110169528A>G | CA2623672695 | COL4A1 | c.3876+101T>C (n.3876+101T>C) c.32+101T>C c.3684+101T>C (n.3684+101T>C) | gnomAD v4 |
13 | g.110169529T>A | CA2623672696 | COL4A1 | c.3876+100A>T (n.3876+100A>T) c.32+100A>T c.3684+100A>T (n.3684+100A>T) | gnomAD v4 |
13 | g.110169529T>C | CA256250696 | COL4A1 | c.3876+100A>G (n.3876+100A>G) c.32+100A>G c.3684+100A>G (n.3684+100A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169529T= | CA2118732608 | COL4A1 | c.3876+100A= (n.3876+100A=) c.32+100A= c.3684+100A= (n.3684+100A=) | |
13 | g.110169530A>C | CA2623672697 | COL4A1 | c.3876+99T>G (n.3876+99T>G) c.32+99T>G c.3684+99T>G (n.3684+99T>G) | gnomAD v4 |
13 | g.110169531T>C | CA484788692 | COL4A1 | c.3876+98A>G (n.3876+98A>G) c.32+98A>G c.3684+98A>G (n.3684+98A>G) | gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169543_110169555del | CA2575454087 | COL4A1 | c.3876+85_3876+97del (n.3876+85_3876+97del) c.32+85_32+97del c.3684+85_3684+97del (n.3684+85_3684+97del) | gnomAD v4 |
13 | g.110169533T>A | CA2623672698 | COL4A1 | c.3876+96A>T (n.3876+96A>T) c.32+96A>T c.3684+96A>T (n.3684+96A>T) | gnomAD v4 |
13 | g.110169533T>C | CA256250704 | COL4A1 | c.3876+96A>G (n.3876+96A>G) c.32+96A>G c.3684+96A>G (n.3684+96A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169533T>G | CA2623672699 | COL4A1 | c.3876+96A>C (n.3876+96A>C) c.32+96A>C c.3684+96A>C (n.3684+96A>C) | gnomAD v4 |
13 | g.110169533T= | CA2118732610 | COL4A1 | c.3876+96A= (n.3876+96A=) c.32+96A= c.3684+96A= (n.3684+96A=) | |
13 | g.110169533_110169535delinsTAC | CA2118732611 | COL4A1 | c.3876+94_3876+96delinsGTA (n.3876+94_3876+96delinsGTA) c.32+94_32+96delinsGTA c.3684+94_3684+96delinsGTA (n.3684+94_3684+96delinsGTA) | |
13 | g.110169533_110169542delinsTACATACACA | CA2118732613 | COL4A1 | c.3876+87_3876+96delinsTGTGTATGTA (n.3876+87_3876+96delinsTGTGTATGTA) c.32+87_32+96delinsTGTGTATGTA c.3684+87_3684+96delinsTGTGTATGTA (n.3684+87_3684+96delinsTGTGTATGTA) | |
13 | g.110169534A>G | CA2623672701 | COL4A1 | c.3876+95T>C (n.3876+95T>C) c.32+95T>C c.3684+95T>C (n.3684+95T>C) | gnomAD v4 |
13 | g.110169535_110169536del | CA612622573 | COL4A1 | c.3876+94_3876+95del (n.3876+94_3876+95del) c.32+94_32+95del c.3684+94_3684+95del (n.3684+94_3684+95del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169535_110169543del | CA2118732614 | COL4A1 | c.3876+87_3876+95del (n.3876+87_3876+95del) c.32+87_32+95del c.3684+87_3684+95del (n.3684+87_3684+95del) | dbSNP |
13 | g.110169535_110169545del | CA2623672700 | COL4A1 | c.3876+85_3876+95del (n.3876+85_3876+95del) c.32+85_32+95del c.3684+85_3684+95del (n.3684+85_3684+95del) | gnomAD v4 |
13 | g.110169535C>A | CA2623672702 | COL4A1 | c.3876+94G>T (n.3876+94G>T) c.32+94G>T c.3684+94G>T (n.3684+94G>T) | gnomAD v4 |
13 | g.110169535C= | CA2118732615 | COL4A1 | c.3876+94G= (n.3876+94G=) c.32+94G= c.3684+94G= (n.3684+94G=) | |
13 | g.110169535C>T | CA960159727 | COL4A1 | c.3876+94G>A (n.3876+94G>A) c.32+94G>A c.3684+94G>A (n.3684+94G>A) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169537_110169538del | CA2623672703 | COL4A1 | c.3876+92_3876+93del (n.3876+92_3876+93del) c.32+92_32+93del c.3684+92_3684+93del (n.3684+92_3684+93del) | gnomAD v4 |
13 | g.110169537T>A | CA2623672704 | COL4A1 | c.3876+92A>T (n.3876+92A>T) c.32+92A>T c.3684+92A>T (n.3684+92A>T) | gnomAD v4 |
13 | g.110169537T>C | CA960159728 | COL4A1 | c.3876+92A>G (n.3876+92A>G) c.32+92A>G c.3684+92A>G (n.3684+92A>G) | gnomAD v3 gnomAD v4 |
13 | g.110169537T>G | CA2623672705 | COL4A1 | c.3876+92A>C (n.3876+92A>C) c.32+92A>C c.3684+92A>C (n.3684+92A>C) | gnomAD v4 |
13 | g.110169537_110169544delinsTACACAAA | CA2118732617 | COL4A1 | c.3876+85_3876+92delinsTTTGTGTA (n.3876+85_3876+92delinsTTTGTGTA) c.32+85_32+92delinsTTTGTGTA c.3684+85_3684+92delinsTTTGTGTA (n.3684+85_3684+92delinsTTTGTGTA) | |
13 | g.110169538A>G | CA2623672706 | COL4A1 | c.3876+91T>C (n.3876+91T>C) c.32+91T>C c.3684+91T>C (n.3684+91T>C) | gnomAD v4 |
13 | g.110169539_110169545del | CA612622574 | COL4A1 | c.3876+85_3876+91del (n.3876+85_3876+91del) c.32+85_32+91del c.3684+85_3684+91del (n.3684+85_3684+91del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169539C>A | CA2623672707 | COL4A1 | c.3876+90G>T (n.3876+90G>T) c.32+90G>T c.3684+90G>T (n.3684+90G>T) | gnomAD v4 |
13 | g.110169539C>T | CA2623672708 | COL4A1 | c.3876+90G>A (n.3876+90G>A) c.32+90G>A c.3684+90G>A (n.3684+90G>A) | gnomAD v4 |
13 | g.110169540A= | CA2118732618 | COL4A1 | c.3876+89T= (n.3876+89T=) c.32+89T= c.3684+89T= (n.3684+89T=) | |
13 | g.110169540A>G | CA2623672709 | COL4A1 | c.3876+89T>C (n.3876+89T>C) c.32+89T>C c.3684+89T>C (n.3684+89T>C) | gnomAD v4 |
13 | g.110169540A>T | CA960159731 | COL4A1 | c.3876+89T>A (n.3876+89T>A) c.32+89T>A c.3684+89T>A (n.3684+89T>A) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169541C>A | CA2623672710 | COL4A1 | c.3876+88G>T (n.3876+88G>T) c.32+88G>T c.3684+88G>T (n.3684+88G>T) | gnomAD v4 |
13 | g.110169542A>G | CA2800580986 | COL4A1 | c.3876+87T>C (n.3876+87T>C) c.32+87T>C c.3684+87T>C (n.3684+87T>C) | |
13 | g.110169542_110169543insTAT | CA2623672711 | COL4A1 | c.3876+86_3876+87insATA (n.3876+86_3876+87insATA) c.32+86_32+87insATA c.3684+86_3684+87insATA (n.3684+86_3684+87insATA) | gnomAD v4 |
13 | g.110169544A= | CA2118732619 | COL4A1 | c.3876+85T= (n.3876+85T=) c.32+85T= c.3684+85T= (n.3684+85T=) | |
13 | g.110169544A>T | CA2118732620 | COL4A1 | c.3876+85T>A (n.3876+85T>A) c.32+85T>A c.3684+85T>A (n.3684+85T>A) | dbSNP gnomAD v4 |
13 | g.110169546T>A | CA2623672712 | COL4A1 | c.3876+83A>T (n.3876+83A>T) c.32+83A>T c.3684+83A>T (n.3684+83A>T) | gnomAD v4 |
13 | g.110169546T>C | CA256250707 | COL4A1 | c.3876+83A>G (n.3876+83A>G) c.32+83A>G c.3684+83A>G (n.3684+83A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169546T>G | CA2623672713 | COL4A1 | c.3876+83A>C (n.3876+83A>C) c.32+83A>C c.3684+83A>C (n.3684+83A>C) | gnomAD v4 |
13 | g.110169546T= | CA2118732623 | COL4A1 | c.3876+83A= (n.3876+83A=) c.32+83A= c.3684+83A= (n.3684+83A=) | |
13 | g.110169546_110169554delinsTACATACAC | CA2118732621 | COL4A1 | c.3876+75_3876+83delinsGTGTATGTA (n.3876+75_3876+83delinsGTGTATGTA) c.32+75_32+83delinsGTGTATGTA c.3684+75_3684+83delinsGTGTATGTA (n.3684+75_3684+83delinsGTGTATGTA) | |
13 | g.110169552_110169559del | CA2118732624 | COL4A1 | c.3876+75_3876+82del (n.3876+75_3876+82del) c.32+75_32+82del c.3684+75_3684+82del (n.3684+75_3684+82del) | dbSNP |
13 | g.110169548C>A | CA2575454088 | COL4A1 | c.3876+81G>T (n.3876+81G>T) c.32+81G>T c.3684+81G>T (n.3684+81G>T) | |
13 | g.110169548C>T | CA2623672714 | COL4A1 | c.3876+81G>A (n.3876+81G>A) c.32+81G>A c.3684+81G>A (n.3684+81G>A) | gnomAD v4 |
13 | g.110169549A>G | CA2575454089 | COL4A1 | c.3876+80T>C (n.3876+80T>C) c.32+80T>C c.3684+80T>C (n.3684+80T>C) | gnomAD v4 |
13 | g.110169550T>A | CA2118732626 | COL4A1 | c.3876+79A>T (n.3876+79A>T) c.32+79A>T c.3684+79A>T (n.3684+79A>T) | dbSNP gnomAD v4 |
13 | g.110169550T>C | CA2575454090 | COL4A1 | c.3876+79A>G (n.3876+79A>G) c.32+79A>G c.3684+79A>G (n.3684+79A>G) | |
13 | g.110169550T= | CA2118732625 | COL4A1 | c.3876+79A= (n.3876+79A=) c.32+79A= c.3684+79A= (n.3684+79A=) | |
13 | g.110169550_110169554delinsTACAC | CA2118732627 | COL4A1 | c.3876+75_3876+79delinsGTGTA (n.3876+75_3876+79delinsGTGTA) c.32+75_32+79delinsGTGTA c.3684+75_3684+79delinsGTGTA (n.3684+75_3684+79delinsGTGTA) | |
13 | g.110169551A>G | CA2623672715 | COL4A1 | c.3876+78T>C (n.3876+78T>C) c.32+78T>C c.3684+78T>C (n.3684+78T>C) | gnomAD v4 |
13 | g.110169554_110169557del | CA2118732629 | COL4A1 | c.3876+75_3876+78del (n.3876+75_3876+78del) c.32+75_32+78del c.3684+75_3684+78del (n.3684+75_3684+78del) | dbSNP |
13 | g.110169552C>G | CA2575454091 | COL4A1 | c.3876+77G>C (n.3876+77G>C) c.32+77G>C c.3684+77G>C (n.3684+77G>C) | gnomAD v4 |
13 | g.110169553A= | CA2118732630 | COL4A1 | c.3876+76T= (n.3876+76T=) c.32+76T= c.3684+76T= (n.3684+76T=) | |
13 | g.110169553A>C | CA256250708 | COL4A1 | c.3876+76T>G (n.3876+76T>G) c.32+76T>G c.3684+76T>G (n.3684+76T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169554C>A | CA2118732633 | COL4A1 | c.3876+75G>T (n.3876+75G>T) c.32+75G>T c.3684+75G>T (n.3684+75G>T) | dbSNP gnomAD v4 |
13 | g.110169554C= | CA2118732632 | COL4A1 | c.3876+75G= (n.3876+75G=) c.32+75G= c.3684+75G= (n.3684+75G=) | |
13 | g.110169554C>T | CA2623672716 | COL4A1 | c.3876+75G>A (n.3876+75G>A) c.32+75G>A c.3684+75G>A (n.3684+75G>A) | gnomAD v4 |
13 | g.110169555A= | CA2118732634 | COL4A1 | c.3876+74T= (n.3876+74T=) c.32+74T= c.3684+74T= (n.3684+74T=) | |
13 | g.110169555A>G | CA256250710 | COL4A1 | c.3876+74T>C (n.3876+74T>C) c.32+74T>C c.3684+74T>C (n.3684+74T>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169556C= | CA2118732636 | COL4A1 | c.3876+73G= (n.3876+73G=) c.32+73G= c.3684+73G= (n.3684+73G=) | |
13 | g.110169556C>G | CA960159735 | COL4A1 | c.3876+73G>C (n.3876+73G>C) c.32+73G>C c.3684+73G>C (n.3684+73G>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169556C>T | CA960159737 | COL4A1 | c.3876+73G>A (n.3876+73G>A) c.32+73G>A c.3684+73G>A (n.3684+73G>A) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169557A>G | CA2575454092 | COL4A1 | c.3876+72T>C (n.3876+72T>C) c.32+72T>C c.3684+72T>C (n.3684+72T>C) | gnomAD v4 |
13 | g.110169558T>C | CA695031778 | COL4A1 | c.3876+71A>G (n.3876+71A>G) c.32+71A>G c.3684+71A>G (n.3684+71A>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169558T>G | CA2623672717 | COL4A1 | c.3876+71A>C (n.3876+71A>C) c.32+71A>C c.3684+71A>C (n.3684+71A>C) | gnomAD v4 |
13 | g.110169558T= | CA2118732637 | COL4A1 | c.3876+71A= (n.3876+71A=) c.32+71A= c.3684+71A= (n.3684+71A=) | |
13 | g.110169559A= | CA2118732639 | COL4A1 | c.3876+70T= (n.3876+70T=) c.32+70T= c.3684+70T= (n.3684+70T=) | |
13 | g.110169559A>G | CA695031779 | COL4A1 | c.3876+70T>C (n.3876+70T>C) c.32+70T>C c.3684+70T>C (n.3684+70T>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169560G>A | CA2575454093 | COL4A1 | c.3876+69C>T (n.3876+69C>T) c.32+69C>T c.3684+69C>T (n.3684+69C>T) | |
13 | g.110169560G>C | CA2623672718 | COL4A1 | c.3876+69C>G (n.3876+69C>G) c.32+69C>G c.3684+69C>G (n.3684+69C>G) | gnomAD v4 |
13 | g.110169560G>T | CA2623672719 | COL4A1 | c.3876+69C>A (n.3876+69C>A) c.32+69C>A c.3684+69C>A (n.3684+69C>A) | gnomAD v4 |