Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108573647G>A | CA413921110 | COL4A5 | c.539G>A (p.Gly180Glu) c.215G>A (p.Gly72Glu) c.554G>A (p.Gly185Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108573647G>C | CA413921112 | COL4A5 | c.539G>C (p.Gly180Ala) c.215G>C (p.Gly72Ala) c.554G>C (p.Gly185Ala) | |
X | g.108573647G>T | CA413921114 | COL4A5 | c.539G>T (p.Gly180Val) c.215G>T (p.Gly72Val) c.554G>T (p.Gly185Val) | |
X | g.108573648A>C | CA517991650 | COL4A5 | c.540A>C (p.Gly180=) c.216A>C (p.Gly72=) c.555A>C (p.Gly185=) | |
X | g.108573648A>G | CA517991648 | COL4A5 | c.540A>G (p.Gly180=) c.216A>G (p.Gly72=) c.555A>G (p.Gly185=) | gnomAD v4 |
X | g.108573648A>T | CA517991649 | COL4A5 | c.540A>T (p.Gly180=) c.216A>T (p.Gly72=) c.555A>T (p.Gly185=) | |
X | g.108573649A>C | CA413921119 | COL4A5 | c.541A>C (p.Ile181Leu) c.217A>C (p.Ile73Leu) c.556A>C (p.Ile186Leu) | |
X | g.108573649A>G | CA413921122 | COL4A5 | c.541A>G (p.Ile181Val) c.217A>G (p.Ile73Val) c.556A>G (p.Ile186Val) | |
X | g.108573649A>T | CA413921124 | COL4A5 | c.541A>T (p.Ile181Leu) c.217A>T (p.Ile73Leu) c.556A>T (p.Ile186Leu) | |
X | g.108573649_108573650insC | CA2545068648 | COL4A5 | c.541_542insC (p.Ile181ThrfsTer?) c.217_218insC (p.Ile73ThrfsTer?) c.556_557insC (p.Ile186ThrfsTer?) | |
X | g.108573650T>A | CA413921126 | COL4A5 | c.542T>A (p.Ile181Lys) c.218T>A (p.Ile73Lys) c.557T>A (p.Ile186Lys) | |
X | g.108573650T>C | CA413921129 | COL4A5 | c.542T>C (p.Ile181Thr) c.218T>C (p.Ile73Thr) c.557T>C (p.Ile186Thr) | |
X | g.108573650T>G | CA413921131 | COL4A5 | c.542T>G (p.Ile181Arg) c.218T>G (p.Ile73Arg) c.557T>G (p.Ile186Arg) | |
X | g.108573650_108573657delinsTACAAGTA | CA2450680774 | COL4A5 | c.542_546+3delinsTACAAGTA c.218_222+3delinsTACAAGTA c.557_561+3delinsTACAAGTA | |
X | g.108573651A>C | CA517991651 | COL4A5 | c.543A>C (p.Ile181=) c.219A>C (p.Ile73=) c.558A>C (p.Ile186=) | |
X | g.108573651A>G | CA413921133 | COL4A5 | c.543A>G (p.Ile181Met) c.219A>G (p.Ile73Met) c.558A>G (p.Ile186Met) | gnomAD v4 |
X | g.108573651A>T | CA517991652 | COL4A5 | c.543A>T (p.Ile181=) c.219A>T (p.Ile73=) c.558A>T (p.Ile186=) | |
X | g.108573652_108573658del | CA891843908 | COL4A5 | c.544_546+4del c.220_222+4del c.559_561+4del | |
X | g.108573652C>A | CA413921142 | COL4A5 | c.544C>A (p.Gln182Lys) c.220C>A (p.Gln74Lys) c.559C>A (p.Gln187Lys) | gnomAD v4 |
X | g.108573652C= | CA2450680775 | COL4A5 | c.544C= (p.Gln182=) c.220C= (p.Gln74=) c.559C= (p.Gln187=) | |
X | g.108573652C>G | CA413921137 | COL4A5 | c.544C>G (p.Gln182Glu) c.220C>G (p.Gln74Glu) c.559C>G (p.Gln187Glu) | |
X | g.108573652C>T | CA413921140 | COL4A5 | c.544C>T (p.Gln182Ter) c.220C>T (p.Gln74Ter) c.559C>T (p.Gln187Ter) | gnomAD v4 |
X | g.108573652_108573656delinsCAAGT | CA2450680776 | COL4A5 | c.544_546+2delinsCAAGT c.220_222+2delinsCAAGT c.559_561+2delinsCAAGT | |
X | g.108573652_108573659del | CA2526418618 | COL4A5 | c.544_546+5del c.220_222+5del c.559_561+5del | |
X | g.108573653A= | CA2450680777 | COL4A5 | c.545A= (p.Gln182=) c.221A= (p.Gln74=) c.560A= (p.Gln187=) | |
X | g.108573653A>C | CA413921145 | COL4A5 | c.545A>C (p.Gln182Pro) c.221A>C (p.Gln74Pro) c.560A>C (p.Gln187Pro) | |
X | g.108573653A>G | CA413921147 | COL4A5 | c.545A>G (p.Gln182Arg) c.221A>G (p.Gln74Arg) c.560A>G (p.Gln187Arg) | |
X | g.108573653A>T | CA10488481 | COL4A5 | c.545A>T (p.Gln182Leu) c.221A>T (p.Gln74Leu) c.560A>T (p.Gln187Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573654del | CA2739290559 | COL4A5 | c.546del (p.Gly183AlafsTer20) c.222del (p.Gly75AlafsTer20) c.561del (p.Gly188AlafsTer20) | |
X | g.108573658_108573661del | CA658823829 | COL4A5 | c.546+4_546+7del c.222+4_222+7del c.561+4_561+7del | ClinVar dbSNP |
X | g.108573654A= | CA2450680778 | COL4A5 | c.546A= (p.Gln182=) c.222A= (p.Gln74=) c.561A= (p.Gln187=) | |
X | g.108573654A>C | CA413921152 | COL4A5 | c.546A>C (p.Gln182His) c.222A>C (p.Gln74His) c.561A>C (p.Gln187His) | |
X | g.108573654A>G | CA517991653 | COL4A5 | c.546A>G (p.Gln182=) c.222A>G (p.Gln74=) c.561A>G (p.Gln187=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573654A>T | CA413921154 | COL4A5 | c.546A>T (p.Gln182His) c.222A>T (p.Gln74His) c.561A>T (p.Gln187His) | |
X | g.108573655G>A | CA258265 | COL4A5 | c.546+1G>A (n.546+1G>A) c.222+1G>A (n.222+1G>A) c.561+1G>A (n.561+1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108573655G>C | CA413921157 | COL4A5 | c.546+1G>C (n.546+1G>C) c.222+1G>C (n.222+1G>C) c.561+1G>C (n.561+1G>C) | |
X | g.108573655G= | CA2450680779 | COL4A5 | c.546+1G= (n.546+1G=) c.222+1G= (n.222+1G=) c.561+1G= (n.561+1G=) | |
X | g.108573655G>T | CA413921160 | COL4A5 | c.546+1G>T (n.546+1G>T) c.222+1G>T (n.222+1G>T) c.561+1G>T (n.561+1G>T) | |
X | g.108573656T>A | CA413921163 | COL4A5 | c.546+2T>A (n.546+2T>A) c.222+2T>A (n.222+2T>A) c.561+2T>A (n.561+2T>A) | |
X | g.108573656T>C | CA413921165 | COL4A5 | c.546+2T>C (n.546+2T>C) c.222+2T>C (n.222+2T>C) c.561+2T>C (n.561+2T>C) | |
X | g.108573656T>G | CA413921167 | COL4A5 | c.546+2T>G (n.546+2T>G) c.222+2T>G (n.222+2T>G) c.561+2T>G (n.561+2T>G) | ClinVar dbSNP |
X | g.108573656T= | CA2450680781 | COL4A5 | c.546+2T= (n.546+2T=) c.222+2T= (n.222+2T=) c.561+2T= (n.561+2T=) | |
X | g.108573656dup | CA658823830 | COL4A5 | c.546+2dup (n.546+2dup) c.222+2dup (n.222+2dup) c.561+2dup (n.561+2dup) | ClinVar dbSNP |
X | g.108573656_108573657delinsTA | CA2450680780 | COL4A5 | c.546+2_546+3delinsTA (n.546+2_546+3delinsTA) c.222+2_222+3delinsTA (n.222+2_222+3delinsTA) c.561+2_561+3delinsTA (n.561+2_561+3delinsTA) | |
X | g.108573657A= | CA2450680782 | COL4A5 | c.546+3A= (n.546+3A=) c.222+3A= (n.222+3A=) c.561+3A= (n.561+3A=) | |
X | g.108573657A>G | CA2694411172 | COL4A5 | c.546+3A>G (n.546+3A>G) c.222+3A>G (n.222+3A>G) c.561+3A>G (n.561+3A>G) | gnomAD v4 |
X | g.108573658del | CA2450680783 | COL4A5 | c.546+4del (n.546+4del) c.222+4del (n.222+4del) c.561+4del (n.561+4del) | ClinVar dbSNP |
X | g.108573657_108573658insT | CA258266 | COL4A5 | c.546+3_546+4insT (n.546+3_546+4insT) c.222+3_222+4insT (n.222+3_222+4insT) c.561+3_561+4insT (n.561+3_561+4insT) | dbSNP |
X | g.108573658A>G | CA2579675877 | COL4A5 | c.546+4A>G (n.546+4A>G) c.222+4A>G (n.222+4A>G) c.561+4A>G (n.561+4A>G) | ClinVar gnomAD v4 |
X | g.108573659G>C | CA2695235180 | COL4A5 | c.546+5G>C (n.546+5G>C) c.222+5G>C (n.222+5G>C) c.561+5G>C (n.561+5G>C) |