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.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.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 |
13 | g.110169562C>A | CA2623672722 | COL4A1 | c.3876+67G>T (n.3876+67G>T) c.32+67G>T c.3684+67G>T (n.3684+67G>T) | gnomAD v4 |
13 | g.110169562C>G | CA2623672721 | COL4A1 | c.3876+67G>C (n.3876+67G>C) c.32+67G>C c.3684+67G>C (n.3684+67G>C) | gnomAD v4 |
13 | g.110169562C>T | CA2623672720 | COL4A1 | c.3876+67G>A (n.3876+67G>A) c.32+67G>A c.3684+67G>A (n.3684+67G>A) | gnomAD v4 |
13 | g.110169563A>C | CA2623672723 | COL4A1 | c.3876+66T>G (n.3876+66T>G) c.32+66T>G c.3684+66T>G (n.3684+66T>G) | gnomAD v4 |
13 | g.110169565_110169574del | CA2575454094 | COL4A1 | c.3876+57_3876+66del (n.3876+57_3876+66del) c.32+57_32+66del c.3684+57_3684+66del (n.3684+57_3684+66del) | gnomAD v4 |
13 | g.110169564C>G | CA2623672724 | COL4A1 | c.3876+65G>C (n.3876+65G>C) c.32+65G>C c.3684+65G>C (n.3684+65G>C) | gnomAD v4 |
13 | g.110169564_110169566delinsCAT | CA2118732640 | COL4A1 | c.3876+63_3876+65delinsATG (n.3876+63_3876+65delinsATG) c.32+63_32+65delinsATG c.3684+63_3684+65delinsATG (n.3684+63_3684+65delinsATG) | |
13 | g.110169567_110169568del | CA612622575 | COL4A1 | c.3876+63_3876+64del (n.3876+63_3876+64del) c.32+63_32+64del c.3684+63_3684+64del (n.3684+63_3684+64del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169566T>C | CA695031780 | COL4A1 | c.3876+63A>G (n.3876+63A>G) c.32+63A>G c.3684+63A>G (n.3684+63A>G) | dbSNP gnomAD v4 |
13 | g.110169566T= | CA2118732643 | COL4A1 | c.3876+63A= (n.3876+63A=) c.32+63A= c.3684+63A= (n.3684+63A=) | |
13 | g.110169567A= | CA2118732645 | COL4A1 | c.3876+62T= (n.3876+62T=) c.32+62T= c.3684+62T= (n.3684+62T=) | |
13 | g.110169567A>G | CA960159740 | COL4A1 | c.3876+62T>C (n.3876+62T>C) c.32+62T>C c.3684+62T>C (n.3684+62T>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169569_110169572del | CA2623672725 | COL4A1 | c.3876+59_3876+62del (n.3876+59_3876+62del) c.32+59_32+62del c.3684+59_3684+62del (n.3684+59_3684+62del) | gnomAD v4 |
13 | g.110169568T>A | CA2118732647 | COL4A1 | c.3876+61A>T (n.3876+61A>T) c.32+61A>T c.3684+61A>T (n.3684+61A>T) | dbSNP gnomAD v4 |
13 | g.110169568T>C | CA960159743 | COL4A1 | c.3876+61A>G (n.3876+61A>G) c.32+61A>G c.3684+61A>G (n.3684+61A>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169568T= | CA2118732646 | COL4A1 | c.3876+61A= (n.3876+61A=) c.32+61A= c.3684+61A= (n.3684+61A=) | |
13 | g.110169569G>A | CA256250713 | COL4A1 | c.3876+60C>T (n.3876+60C>T) c.32+60C>T c.3684+60C>T (n.3684+60C>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169569G= | CA2118732649 | COL4A1 | c.3876+60C= (n.3876+60C=) c.32+60C= c.3684+60C= (n.3684+60C=) | |
13 | g.110169570A>G | CA2623672726 | COL4A1 | c.3876+59T>C (n.3876+59T>C) c.32+59T>C c.3684+59T>C (n.3684+59T>C) | gnomAD v4 |
13 | g.110169571A>G | CA2575454095 | COL4A1 | c.3876+58T>C (n.3876+58T>C) c.32+58T>C c.3684+58T>C (n.3684+58T>C) | gnomAD v4 |
13 | g.110169572T>C | CA2623672727 | COL4A1 | c.3876+57A>G (n.3876+57A>G) c.32+57A>G c.3684+57A>G (n.3684+57A>G) | gnomAD v4 |
13 | g.110169573A>G | CA2575454096 | COL4A1 | c.3876+56T>C (n.3876+56T>C) c.32+56T>C c.3684+56T>C (n.3684+56T>C) | gnomAD v4 |
13 | g.110169574C>A | CA256250716 | COL4A1 | c.3876+55G>T (n.3876+55G>T) c.32+55G>T c.3684+55G>T (n.3684+55G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169574C= | CA2118732652 | COL4A1 | c.3876+55G= (n.3876+55G=) c.32+55G= c.3684+55G= (n.3684+55G=) | |
13 | g.110169574C>T | CA256250714 | COL4A1 | c.3876+55G>A (n.3876+55G>A) c.32+55G>A c.3684+55G>A (n.3684+55G>A) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169575T>C | CA2575454097 | COL4A1 | c.3876+54A>G (n.3876+54A>G) c.32+54A>G c.3684+54A>G (n.3684+54A>G) | gnomAD v4 |
13 | g.110169577C= | CA2118732655 | COL4A1 | c.3876+52G= (n.3876+52G=) c.32+52G= c.3684+52G= (n.3684+52G=) | |
13 | g.110169577C>G | CA695031785 | COL4A1 | c.3876+52G>C (n.3876+52G>C) c.32+52G>C c.3684+52G>C (n.3684+52G>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169578T>C | CA960159749 | COL4A1 | c.3876+51A>G (n.3876+51A>G) c.32+51A>G c.3684+51A>G (n.3684+51A>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169578T= | CA2118732656 | COL4A1 | c.3876+51A= (n.3876+51A=) c.32+51A= c.3684+51A= (n.3684+51A=) | |
13 | g.110169580G>A | CA7047117 | COL4A1 | c.3876+49C>T (n.3876+49C>T) c.32+49C>T c.3684+49C>T (n.3684+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110169580G= | CA2118732658 | COL4A1 | c.3876+49C= (n.3876+49C=) c.32+49C= c.3684+49C= (n.3684+49C=) | |
13 | g.110169580G>T | CA2623672728 | COL4A1 | c.3876+49C>A (n.3876+49C>A) c.32+49C>A c.3684+49C>A (n.3684+49C>A) | gnomAD v4 |
13 | g.110169581C= | CA2118732661 | COL4A1 | c.3876+48G= (n.3876+48G=) c.32+48G= c.3684+48G= (n.3684+48G=) | |
13 | g.110169581C>T | CA7047118 | COL4A1 | c.3876+48G>A (n.3876+48G>A) c.32+48G>A c.3684+48G>A (n.3684+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110169583A>G | CA2623672729 | COL4A1 | c.3876+46T>C (n.3876+46T>C) c.32+46T>C c.3684+46T>C (n.3684+46T>C) | gnomAD v4 |
13 | g.110169584G>A | CA256250748 | COL4A1 | c.3876+45C>T (n.3876+45C>T) c.32+45C>T c.3684+45C>T (n.3684+45C>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169584G= | CA2118732663 | COL4A1 | c.3876+45C= (n.3876+45C=) c.32+45C= c.3684+45C= (n.3684+45C=) | |
13 | g.110169584G>T | CA256250753 | COL4A1 | c.3876+45C>A (n.3876+45C>A) c.32+45C>A c.3684+45C>A (n.3684+45C>A) | dbSNP gnomAD v4 |
13 | g.110169586A= | CA2118732666 | COL4A1 | c.3876+43T= (n.3876+43T=) c.32+43T= c.3684+43T= (n.3684+43T=) | |
13 | g.110169586A>G | CA7047119 | COL4A1 | c.3876+43T>C (n.3876+43T>C) c.32+43T>C c.3684+43T>C (n.3684+43T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169588A>G | CA2623672730 | COL4A1 | c.3876+41T>C (n.3876+41T>C) c.32+41T>C c.3684+41T>C (n.3684+41T>C) | gnomAD v4 |
13 | g.110169590A= | CA2118732668 | COL4A1 | c.3876+39T= (n.3876+39T=) c.32+39T= c.3684+39T= (n.3684+39T=) | |
13 | g.110169590A>G | CA612622576 | COL4A1 | c.3876+39T>C (n.3876+39T>C) c.32+39T>C c.3684+39T>C (n.3684+39T>C) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110169593C>T | CA2623672731 | COL4A1 | c.3876+36G>A (n.3876+36G>A) c.32+36G>A c.3684+36G>A (n.3684+36G>A) | gnomAD v4 |
13 | g.110169594C>A | CA612622577 | COL4A1 | c.3876+35G>T (n.3876+35G>T) c.32+35G>T c.3684+35G>T (n.3684+35G>T) | dbSNP gnomAD v2 |
13 | g.110169594C= | CA2118732671 | COL4A1 | c.3876+35G= (n.3876+35G=) c.32+35G= c.3684+35G= (n.3684+35G=) | |
13 | g.110169594C>T | CA2118732672 | COL4A1 | c.3876+35G>A (n.3876+35G>A) c.32+35G>A c.3684+35G>A (n.3684+35G>A) | dbSNP |
13 | g.110169595T>C | CA2623672732 | COL4A1 | c.3876+34A>G (n.3876+34A>G) c.32+34A>G c.3684+34A>G (n.3684+34A>G) | gnomAD v4 |
13 | g.110169598A= | CA2118732674 | COL4A1 | c.3876+31T= (n.3876+31T=) c.32+31T= c.3684+31T= (n.3684+31T=) | |
13 | g.110169598A>G | CA612622578 | COL4A1 | c.3876+31T>C (n.3876+31T>C) c.32+31T>C c.3684+31T>C (n.3684+31T>C) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110169600A>G | CA2623672733 | COL4A1 | c.3876+29T>C (n.3876+29T>C) c.32+29T>C c.3684+29T>C (n.3684+29T>C) | gnomAD v4 |
13 | g.110169602A= | CA2118732677 | COL4A1 | c.3876+27T= (n.3876+27T=) c.32+27T= c.3684+27T= (n.3684+27T=) | |
13 | g.110169602A>G | CA484788693 | COL4A1 | c.3876+27T>C (n.3876+27T>C) c.32+27T>C c.3684+27T>C (n.3684+27T>C) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110169602A>T | CA2623672734 | COL4A1 | c.3876+27T>A (n.3876+27T>A) c.32+27T>A c.3684+27T>A (n.3684+27T>A) | gnomAD v4 |
13 | g.110169603T>G | CA7047120 | COL4A1 | c.3876+26A>C (n.3876+26A>C) c.32+26A>C c.3684+26A>C (n.3684+26A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110169603T= | CA2118732679 | COL4A1 | c.3876+26A= (n.3876+26A=) c.32+26A= c.3684+26A= (n.3684+26A=) | |
13 | g.110169604A>T | CA2623672736 | COL4A1 | c.3876+25T>A (n.3876+25T>A) c.32+25T>A c.3684+25T>A (n.3684+25T>A) | gnomAD v4 |
13 | g.110169608dup | CA2623672735 | COL4A1 | c.3876+25dup (n.3876+25dup) c.32+25dup c.3684+25dup (n.3684+25dup) | gnomAD v4 |
13 | g.110169605A= | CA2118732680 | COL4A1 | c.3876+24T= (n.3876+24T=) c.32+24T= c.3684+24T= (n.3684+24T=) | |
13 | g.110169605A>T | CA960159752 | COL4A1 | c.3876+24T>A (n.3876+24T>A) c.32+24T>A c.3684+24T>A (n.3684+24T>A) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169607A= | CA2118732682 | COL4A1 | c.3876+22T= (n.3876+22T=) c.32+22T= c.3684+22T= (n.3684+22T=) | |
13 | g.110169607A>G | CA7047121 | COL4A1 | c.3876+22T>C (n.3876+22T>C) c.32+22T>C c.3684+22T>C (n.3684+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169608A= | CA2118732684 | COL4A1 | c.3876+21T= (n.3876+21T=) c.32+21T= c.3684+21T= (n.3684+21T=) | |
13 | g.110169608A>G | CA2118732685 | COL4A1 | c.3876+21T>C (n.3876+21T>C) c.32+21T>C c.3684+21T>C (n.3684+21T>C) | dbSNP gnomAD v4 |
13 | g.110169608A>T | CA7047122 | COL4A1 | c.3876+21T>A (n.3876+21T>A) c.32+21T>A c.3684+21T>A (n.3684+21T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169610C>G | CA2800580987 | COL4A1 | c.3876+19G>C (n.3876+19G>C) c.32+19G>C c.3684+19G>C (n.3684+19G>C) | |
13 | g.110169612_110169617delinsACAAAT | CA2118732687 | COL4A1 | c.3876+12_3876+17delinsATTTGT (n.3876+12_3876+17delinsATTTGT) c.32+12_32+17delinsATTTGT c.3684+12_3684+17delinsATTTGT (n.3684+12_3684+17delinsATTTGT) | |
13 | g.110169613C>A | CA2800580988 | COL4A1 | c.3876+16G>T (n.3876+16G>T) c.32+16G>T c.3684+16G>T (n.3684+16G>T) | |
13 | g.110169613C= | CA2118732690 | COL4A1 | c.3876+16G= (n.3876+16G=) c.32+16G= c.3684+16G= (n.3684+16G=) | |
13 | g.110169613C>G | CA7047124 | COL4A1 | c.3876+16G>C (n.3876+16G>C) c.32+16G>C c.3684+16G>C (n.3684+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169613_110169614delinsCA | CA2118732692 | COL4A1 | c.3876+15_3876+16delinsTG (n.3876+15_3876+16delinsTG) c.32+15_32+16delinsTG c.3684+15_3684+16delinsTG (n.3684+15_3684+16delinsTG) | |
13 | g.110169616_110169620del | CA7047123 | COL4A1 | c.3876+12_3876+16del (n.3876+12_3876+16del) c.32+12_32+16del c.3684+12_3684+16del (n.3684+12_3684+16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169614A= | CA2118732694 | COL4A1 | c.3876+15T= (n.3876+15T=) c.32+15T= c.3684+15T= (n.3684+15T=) | |
13 | g.110169614A>T | CA612622579 | COL4A1 | c.3876+15T>A (n.3876+15T>A) c.32+15T>A c.3684+15T>A (n.3684+15T>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110169616del | CA7047125 | COL4A1 | c.3876+15del (n.3876+15del) c.32+15del c.3684+15del (n.3684+15del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110169615A= | CA2118732695 | COL4A1 | c.3876+14T= (n.3876+14T=) c.32+14T= c.3684+14T= (n.3684+14T=) | |
13 | g.110169615A>G | CA2118732696 | COL4A1 | c.3876+14T>C (n.3876+14T>C) c.32+14T>C c.3684+14T>C (n.3684+14T>C) | dbSNP |
13 | g.110169615A>T | CA2623672737 | COL4A1 | c.3876+14T>A (n.3876+14T>A) c.32+14T>A c.3684+14T>A (n.3684+14T>A) | gnomAD v4 |
13 | g.110169616A>G | CA2623672738 | COL4A1 | c.3876+13T>C (n.3876+13T>C) c.32+13T>C c.3684+13T>C (n.3684+13T>C) | gnomAD v4 |
13 | g.110169617T>A | CA2118732699 | COL4A1 | c.3876+12A>T (n.3876+12A>T) c.32+12A>T c.3684+12A>T (n.3684+12A>T) | dbSNP |
13 | g.110169617T= | CA2118732700 | COL4A1 | c.3876+12A= (n.3876+12A=) c.32+12A= c.3684+12A= (n.3684+12A=) | |
13 | g.110169617_110169618delinsTC | CA2118732698 | COL4A1 | c.3876+11_3876+12delinsGA (n.3876+11_3876+12delinsGA) c.32+11_32+12delinsGA c.3684+11_3684+12delinsGA (n.3684+11_3684+12delinsGA) | |
13 | g.110169618del | CA612622580 | COL4A1 | c.3876+11del (n.3876+11del) c.32+11del c.3684+11del (n.3684+11del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169618C>G | CA2623672739 | COL4A1 | c.3876+11G>C (n.3876+11G>C) c.32+11G>C c.3684+11G>C (n.3684+11G>C) | gnomAD v4 |
13 | g.110169620A= | CA2118732702 | COL4A1 | c.3876+9T= (n.3876+9T=) c.32+9T= c.3684+9T= (n.3684+9T=) | |
13 | g.110169620A>C | CA612622581 | COL4A1 | c.3876+9T>G (n.3876+9T>G) c.32+9T>G c.3684+9T>G (n.3684+9T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169620A>G | CA7047126 | COL4A1 | c.3876+9T>C (n.3876+9T>C) c.32+9T>C c.3684+9T>C (n.3684+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169621T>C | CA2623672740 | COL4A1 | c.3876+8A>G (n.3876+8A>G) c.32+8A>G c.3684+8A>G (n.3684+8A>G) | gnomAD v4 |
13 | g.110169622A= | CA2118732705 | COL4A1 | c.3876+7T= (n.3876+7T=) c.32+7T= c.3684+7T= (n.3684+7T=) | |
13 | g.110169622A>G | CA695031829 | COL4A1 | c.3876+7T>C (n.3876+7T>C) c.32+7T>C c.3684+7T>C (n.3684+7T>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169624C>G | CA2623672741 | COL4A1 | c.3876+5G>C (n.3876+5G>C) c.32+5G>C c.3684+5G>C (n.3684+5G>C) | gnomAD v4 |
13 | g.110169627A>C | CA388661671 | COL4A1 | c.3876+2T>G (n.3876+2T>G) c.32+2T>G c.3684+2T>G (n.3684+2T>G) | |
13 | g.110169627A>G | CA388661672 | COL4A1 | c.3876+2T>C (n.3876+2T>C) c.32+2T>C c.3684+2T>C (n.3684+2T>C) | |
13 | g.110169627A>T | CA388661673 | COL4A1 | c.3876+2T>A (n.3876+2T>A) c.32+2T>A c.3684+2T>A (n.3684+2T>A) | |
13 | g.110169628C>A | CA388661674 | COL4A1 | c.3876+1G>T (n.3876+1G>T) c.32+1G>T c.3684+1G>T (n.3684+1G>T) | |
13 | g.110169628C>G | CA388661675 | COL4A1 | c.3876+1G>C (n.3876+1G>C) c.32+1G>C c.3684+1G>C (n.3684+1G>C) | |
13 | g.110169628C>T | CA388661676 | COL4A1 | c.3876+1G>A (n.3876+1G>A) c.32+1G>A c.3684+1G>A (n.3684+1G>A) | gnomAD v4 |
13 | g.110169629A>C | CA484788694 | COL4A1 | c.3876T>G (p.Pro1292=) c.32T>G c.3684T>G (p.Pro1228=) | |
13 | g.110169629A>G | CA484788695 | COL4A1 | c.3876T>C (p.Pro1292=) c.32T>C c.3684T>C (p.Pro1228=) | |
13 | g.110169629A>T | CA484788696 | COL4A1 | c.3876T>A (p.Pro1292=) c.32T>A c.3684T>A (p.Pro1228=) | |
13 | g.110169630G>A | CA388661679 | COL4A1 | c.3875C>T (p.Pro1292Leu) c.31C>T c.3683C>T (p.Pro1228Leu) | |
13 | g.110169630G>C | CA388661678 | COL4A1 | c.3875C>G (p.Pro1292Arg) c.31C>G c.3683C>G (p.Pro1228Arg) | |
13 | g.110169630G>T | CA388661677 | COL4A1 | c.3875C>A (p.Pro1292His) c.31C>A c.3683C>A (p.Pro1228His) | |
13 | g.110169631G>A | CA388661680 | COL4A1 | c.3874C>T (p.Pro1292Ser) c.30C>T c.3682C>T (p.Pro1228Ser) | |
13 | g.110169631G>C | CA388661681 | COL4A1 | c.3874C>G (p.Pro1292Ala) c.30C>G c.3682C>G (p.Pro1228Ala) | |
13 | g.110169631G= | CA2118732709 | COL4A1 | c.3874C= (p.Pro1292=) c.30C= c.3682C= (p.Pro1228=) | |
13 | g.110169631G>T | CA7047127 | COL4A1 | c.3874C>A (p.Pro1292Thr) c.30C>A c.3682C>A (p.Pro1228Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169632C>A | CA388661682 | COL4A1 | c.3873G>T (p.Met1291Ile) c.29G>T c.3681G>T (p.Met1227Ile) | |
13 | g.110169632C>G | CA388661683 | COL4A1 | c.3873G>C (p.Met1291Ile) c.29G>C c.3681G>C (p.Met1227Ile) | |
13 | g.110169632C>T | CA388661684 | COL4A1 | c.3873G>A (p.Met1291Ile) c.29G>A c.3681G>A (p.Met1227Ile) | gnomAD v4 |
13 | g.110169633A>C | CA388661685 | COL4A1 | c.3872T>G (p.Met1291Arg) c.28T>G c.3680T>G (p.Met1227Arg) | |
13 | g.110169633A>G | CA388661686 | COL4A1 | c.3872T>C (p.Met1291Thr) c.28T>C c.3680T>C (p.Met1227Thr) | gnomAD v4 |
13 | g.110169633A>T | CA388661687 | COL4A1 | c.3872T>A (p.Met1291Lys) c.28T>A c.3680T>A (p.Met1227Lys) | |
13 | g.110169634T>A | CA388661688 | COL4A1 | c.3871A>T (p.Met1291Leu) c.27A>T c.3679A>T (p.Met1227Leu) | |
13 | g.110169634T>C | CA7047128 | COL4A1 | c.3871A>G (p.Met1291Val) c.27A>G c.3679A>G (p.Met1227Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169634T>G | CA388661689 | COL4A1 | c.3871A>C (p.Met1291Leu) c.27A>C c.3679A>C (p.Met1227Leu) | |
13 | g.110169634T= | CA2118732711 | COL4A1 | c.3871A= (p.Met1291=) c.27A= c.3679A= (p.Met1227=) | |
13 | g.110169635G>A | CA484788697 | COL4A1 | c.3870C>T (p.Gly1290=) c.26C>T c.3678C>T (p.Gly1226=) | |
13 | g.110169635G>C | CA484788698 | COL4A1 | c.3870C>G (p.Gly1290=) c.26C>G c.3678C>G (p.Gly1226=) | |
13 | g.110169635G>T | CA484788699 | COL4A1 | c.3870C>A (p.Gly1290=) c.26C>A c.3678C>A (p.Gly1226=) | ClinVar |
13 | g.110169636C>A | CA388661692 | COL4A1 | c.3869G>T (p.Gly1290Val) c.25G>T c.3677G>T (p.Gly1226Val) | |
13 | g.110169636C>G | CA388661691 | COL4A1 | c.3869G>C (p.Gly1290Ala) c.25G>C c.3677G>C (p.Gly1226Ala) | |
13 | g.110169636C>T | CA388661690 | COL4A1 | c.3869G>A (p.Gly1290Asp) c.25G>A c.3677G>A (p.Gly1226Asp) | |
13 | g.110169637C>A | CA388661693 | COL4A1 | c.3868G>T (p.Gly1290Cys) c.24G>T c.3676G>T (p.Gly1226Cys) | |
13 | g.110169637C>G | CA388661695 | COL4A1 | c.3868G>C (p.Gly1290Arg) c.24G>C c.3676G>C (p.Gly1226Arg) | |
13 | g.110169637C>T | CA388661694 | COL4A1 | c.3868G>A (p.Gly1290Ser) c.24G>A c.3676G>A (p.Gly1226Ser) | gnomAD v4 COSMIC COSMIC |
13 | g.110169638C>A | CA388661696 | COL4A1 | c.3867G>T (p.Gln1289His) c.23G>T c.3675G>T (p.Gln1225His) | |
13 | g.110169638C>G | CA388661697 | COL4A1 | c.3867G>C (p.Gln1289His) c.23G>C c.3675G>C (p.Gln1225His) | gnomAD v4 |
13 | g.110169638C>T | CA484788700 | COL4A1 | c.3867G>A (p.Gln1289=) c.23G>A c.3675G>A (p.Gln1225=) | |
13 | g.110169639T>A | CA388661698 | COL4A1 | c.3866A>T (p.Gln1289Leu) c.22A>T c.3674A>T (p.Gln1225Leu) | |
13 | g.110169639T>C | CA388661699 | COL4A1 | c.3866A>G (p.Gln1289Arg) c.22A>G c.3674A>G (p.Gln1225Arg) | dbSNP |
13 | g.110169639T>G | CA388661700 | COL4A1 | c.3866A>C (p.Gln1289Pro) c.22A>C c.3674A>C (p.Gln1225Pro) | |
13 | g.110169639T= | CA2118732718 | COL4A1 | c.3866A= (p.Gln1289=) c.22A= c.3674A= (p.Gln1225=) | |
13 | g.110169640G>A | CA388661701 | COL4A1 | c.3865C>T (p.Gln1289Ter) c.21C>T c.3673C>T (p.Gln1225Ter) | |
13 | g.110169640G>C | CA388661702 | COL4A1 | c.3865C>G (p.Gln1289Glu) c.21C>G c.3673C>G (p.Gln1225Glu) | |
13 | g.110169640G>T | CA388661703 | COL4A1 | c.3865C>A (p.Gln1289Lys) c.21C>A c.3673C>A (p.Gln1225Lys) | |
13 | g.110169641G>A | CA484788701 | COL4A1 | c.3864C>T (p.Phe1288=) c.20C>T c.3672C>T (p.Phe1224=) | |
13 | g.110169641G>C | CA388661704 | COL4A1 | c.3864C>G (p.Phe1288Leu) c.20C>G c.3672C>G (p.Phe1224Leu) | |
13 | g.110169641G>T | CA388661705 | COL4A1 | c.3864C>A (p.Phe1288Leu) c.20C>A c.3672C>A (p.Phe1224Leu) | |
13 | g.110169642A>C | CA388661708 | COL4A1 | c.3863T>G (p.Phe1288Cys) c.19T>G c.3671T>G (p.Phe1224Cys) | |
13 | g.110169642A>G | CA388661707 | COL4A1 | c.3863T>C (p.Phe1288Ser) c.19T>C c.3671T>C (p.Phe1224Ser) | |
13 | g.110169642A>T | CA388661706 | COL4A1 | c.3863T>A (p.Phe1288Tyr) c.19T>A c.3671T>A (p.Phe1224Tyr) | |
13 | g.110169643A>C | CA388661709 | COL4A1 | c.3862T>G (p.Phe1288Val) c.18T>G c.3670T>G (p.Phe1224Val) | |
13 | g.110169643A>G | CA388661710 | COL4A1 | c.3862T>C (p.Phe1288Leu) c.18T>C c.3670T>C (p.Phe1224Leu) | |
13 | g.110169643A>T | CA388661711 | COL4A1 | c.3862T>A (p.Phe1288Ile) c.18T>A c.3670T>A (p.Phe1224Ile) | |
13 | g.110169644T>A | CA484788702 | COL4A1 | c.3861A>T (p.Gly1287=) c.17A>T c.3669A>T (p.Gly1223=) | |
13 | g.110169644T>C | CA484788704 | COL4A1 | c.3861A>G (p.Gly1287=) c.17A>G c.3669A>G (p.Gly1223=) | ClinVar dbSNP |
13 | g.110169644T>G | CA484788703 | COL4A1 | c.3861A>C (p.Gly1287=) c.17A>C c.3669A>C (p.Gly1223=) | |
13 | g.110169645C>A | CA388661712 | COL4A1 | c.3860G>T (p.Gly1287Val) c.16G>T c.3668G>T (p.Gly1223Val) | COSMIC COSMIC |
13 | g.110169645C>G | CA388661713 | COL4A1 | c.3860G>C (p.Gly1287Ala) c.16G>C c.3668G>C (p.Gly1223Ala) | gnomAD v4 |
13 | g.110169645C>T | CA388661714 | COL4A1 | c.3860G>A (p.Gly1287Glu) c.16G>A c.3668G>A (p.Gly1223Glu) | |
13 | g.110169646C>A | CA388661715 | COL4A1 | c.3859G>T (p.Gly1287Ter) c.15G>T c.3667G>T (p.Gly1223Ter) | |
13 | g.110169646C>G | CA388661716 | COL4A1 | c.3859G>C (p.Gly1287Arg) c.15G>C c.3667G>C (p.Gly1223Arg) | |
13 | g.110169646C>T | CA388661717 | COL4A1 | c.3859G>A (p.Gly1287Arg) c.15G>A c.3667G>A (p.Gly1223Arg) | |
13 | g.110169647A>C | CA484788705 | COL4A1 | c.3858T>G (p.Pro1286=) c.14T>G c.3666T>G (p.Pro1222=) | |
13 | g.110169647A>G | CA484788706 | COL4A1 | c.3858T>C (p.Pro1286=) c.14T>C c.3666T>C (p.Pro1222=) | |
13 | g.110169647A>T | CA484788707 | COL4A1 | c.3858T>A (p.Pro1286=) c.14T>A c.3666T>A (p.Pro1222=) |