Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108665526_108665552del | CA2580100180 | COL4A5 | c.3393_3419del (p.Pro1132_Gly1140del) c.3069_3095del (p.Pro1024_Gly1032del) c.966_992del (p.Pro323_Gly331del) c.3408_3434del (p.Pro1137_Gly1145del) c.1728_1754del (p.Pro577_Gly585del) | ClinVar |
X | g.108665519C>A | CA413847141 | COL4A5 | c.3386C>A (p.Pro1129His) c.3062C>A (p.Pro1021His) c.959C>A (p.Pro320His) c.3401C>A (p.Pro1134His) c.1721C>A (p.Pro574His) | |
X | g.108665519C= | CA2450711977 | COL4A5 | c.3386C= (p.Pro1129=) c.3062C= (p.Pro1021=) c.959C= (p.Pro320=) c.3401C= (p.Pro1134=) c.1721C= (p.Pro574=) | |
X | g.108665519C>G | CA413847142 | COL4A5 | c.3386C>G (p.Pro1129Arg) c.3062C>G (p.Pro1021Arg) c.959C>G (p.Pro320Arg) c.3401C>G (p.Pro1134Arg) c.1721C>G (p.Pro574Arg) | |
X | g.108665519C>T | CA334044907 | COL4A5 | c.3386C>T (p.Pro1129Leu) c.3062C>T (p.Pro1021Leu) c.959C>T (p.Pro320Leu) c.3401C>T (p.Pro1134Leu) c.1721C>T (p.Pro574Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108665520T>A | CA517922221 | COL4A5 | c.3387T>A (p.Pro1129=) c.3063T>A (p.Pro1021=) c.960T>A (p.Pro320=) c.3402T>A (p.Pro1134=) c.1722T>A (p.Pro574=) | |
X | g.108665520T>C | CA517922222 | COL4A5 | c.3387T>C (p.Pro1129=) c.3063T>C (p.Pro1021=) c.960T>C (p.Pro320=) c.3402T>C (p.Pro1134=) c.1722T>C (p.Pro574=) | |
X | g.108665520T>G | CA517922223 | COL4A5 | c.3387T>G (p.Pro1129=) c.3063T>G (p.Pro1021=) c.960T>G (p.Pro320=) c.3402T>G (p.Pro1134=) c.1722T>G (p.Pro574=) | |
X | g.108665521C>A | CA413847145 | COL4A5 | c.3388C>A (p.Pro1130Thr) c.3064C>A (p.Pro1022Thr) c.961C>A (p.Pro321Thr) c.3403C>A (p.Pro1135Thr) c.1723C>A (p.Pro575Thr) | |
X | g.108665521C>G | CA413847144 | COL4A5 | c.3388C>G (p.Pro1130Ala) c.3064C>G (p.Pro1022Ala) c.961C>G (p.Pro321Ala) c.3403C>G (p.Pro1135Ala) c.1723C>G (p.Pro575Ala) | |
X | g.108665521C>T | CA413847143 | COL4A5 | c.3388C>T (p.Pro1130Ser) c.3064C>T (p.Pro1022Ser) c.961C>T (p.Pro321Ser) c.3403C>T (p.Pro1135Ser) c.1723C>T (p.Pro575Ser) | |
X | g.108665522C>A | CA413847146 | COL4A5 | c.3389C>A (p.Pro1130His) c.3065C>A (p.Pro1022His) c.962C>A (p.Pro321His) c.3404C>A (p.Pro1135His) c.1724C>A (p.Pro575His) | COSMIC COSMIC |
X | g.108665522C>G | CA413847147 | COL4A5 | c.3389C>G (p.Pro1130Arg) c.3065C>G (p.Pro1022Arg) c.962C>G (p.Pro321Arg) c.3404C>G (p.Pro1135Arg) c.1724C>G (p.Pro575Arg) | |
X | g.108665522C>T | CA413847148 | COL4A5 | c.3389C>T (p.Pro1130Leu) c.3065C>T (p.Pro1022Leu) c.962C>T (p.Pro321Leu) c.3404C>T (p.Pro1135Leu) c.1724C>T (p.Pro575Leu) | |
X | g.108665523T>A | CA517922227 | COL4A5 | c.3390T>A (p.Pro1130=) c.3066T>A (p.Pro1022=) c.963T>A (p.Pro321=) c.3405T>A (p.Pro1135=) c.1725T>A (p.Pro575=) | gnomAD v4 |
X | g.108665523T>C | CA517922228 | COL4A5 | c.3390T>C (p.Pro1130=) c.3066T>C (p.Pro1022=) c.963T>C (p.Pro321=) c.3405T>C (p.Pro1135=) c.1725T>C (p.Pro575=) | ClinVar dbSNP |
X | g.108665523T>G | CA517922229 | COL4A5 | c.3390T>G (p.Pro1130=) c.3066T>G (p.Pro1022=) c.963T>G (p.Pro321=) c.3405T>G (p.Pro1135=) c.1725T>G (p.Pro575=) | |
X | g.108665524G>A | CA413847149 | COL4A5 | c.3391G>A (p.Gly1131Arg) c.3067G>A (p.Gly1023Arg) c.964G>A (p.Gly322Arg) c.3406G>A (p.Gly1136Arg) c.1726G>A (p.Gly576Arg) | |
X | g.108665524G>C | CA413847150 | COL4A5 | c.3391G>C (p.Gly1131Arg) c.3067G>C (p.Gly1023Arg) c.964G>C (p.Gly322Arg) c.3406G>C (p.Gly1136Arg) c.1726G>C (p.Gly576Arg) | |
X | g.108665524G>T | CA413847151 | COL4A5 | c.3391G>T (p.Gly1131Ter) c.3067G>T (p.Gly1023Ter) c.964G>T (p.Gly322Ter) c.3406G>T (p.Gly1136Ter) c.1726G>T (p.Gly576Ter) | |
X | g.108665525del | CA2579676774 | COL4A5 | c.3392del (p.Gly1131AspfsTer21) c.3068del (p.Gly1023AspfsTer21) c.965del (p.Gly322AspfsTer21) c.3407del (p.Gly1136AspfsTer21) c.1727del (p.Gly576AspfsTer21) | |
X | g.108665525G>A | CA413847153 | COL4A5 | c.3392G>A (p.Gly1131Glu) c.3068G>A (p.Gly1023Glu) c.965G>A (p.Gly322Glu) c.3407G>A (p.Gly1136Glu) c.1727G>A (p.Gly576Glu) | gnomAD v4 |
X | g.108665525G>C | CA413847156 | COL4A5 | c.3392G>C (p.Gly1131Ala) c.3068G>C (p.Gly1023Ala) c.965G>C (p.Gly322Ala) c.3407G>C (p.Gly1136Ala) c.1727G>C (p.Gly576Ala) | |
X | g.108665525G>T | CA413847155 | COL4A5 | c.3392G>T (p.Gly1131Val) c.3068G>T (p.Gly1023Val) c.965G>T (p.Gly322Val) c.3407G>T (p.Gly1136Val) c.1727G>T (p.Gly576Val) | |
X | g.108665526A>C | CA517922233 | COL4A5 | c.3393A>C (p.Gly1131=) c.3069A>C (p.Gly1023=) c.966A>C (p.Gly322=) c.3408A>C (p.Gly1136=) c.1728A>C (p.Gly576=) | |
X | g.108665526A>G | CA517922232 | COL4A5 | c.3393A>G (p.Gly1131=) c.3069A>G (p.Gly1023=) c.966A>G (p.Gly322=) c.3408A>G (p.Gly1136=) c.1728A>G (p.Gly576=) | |
X | g.108665526A>T | CA517922231 | COL4A5 | c.3393A>T (p.Gly1131=) c.3069A>T (p.Gly1023=) c.966A>T (p.Gly322=) c.3408A>T (p.Gly1136=) c.1728A>T (p.Gly576=) | |
X | g.108665527C>A | CA413847157 | COL4A5 | c.3394C>A (p.Pro1132Thr) c.3070C>A (p.Pro1024Thr) c.967C>A (p.Pro323Thr) c.3409C>A (p.Pro1137Thr) c.1729C>A (p.Pro577Thr) | |
X | g.108665527C>G | CA413847159 | COL4A5 | c.3394C>G (p.Pro1132Ala) c.3070C>G (p.Pro1024Ala) c.967C>G (p.Pro323Ala) c.3409C>G (p.Pro1137Ala) c.1729C>G (p.Pro577Ala) | |
X | g.108665527C>T | CA413847161 | COL4A5 | c.3394C>T (p.Pro1132Ser) c.3070C>T (p.Pro1024Ser) c.967C>T (p.Pro323Ser) c.3409C>T (p.Pro1137Ser) c.1729C>T (p.Pro577Ser) | |
X | g.108665528del | CA2694441292 | COL4A5 | c.3395del (p.Pro1132GlnfsTer20) c.3071del (p.Pro1024GlnfsTer20) c.968del (p.Pro323GlnfsTer20) c.3410del (p.Pro1137GlnfsTer20) c.1730del (p.Pro577GlnfsTer20) | gnomAD v4 |
X | g.108665528C>A | CA413847163 | COL4A5 | c.3395C>A (p.Pro1132Gln) c.3071C>A (p.Pro1024Gln) c.968C>A (p.Pro323Gln) c.3410C>A (p.Pro1137Gln) c.1730C>A (p.Pro577Gln) | |
X | g.108665528C>G | CA413847164 | COL4A5 | c.3395C>G (p.Pro1132Arg) c.3071C>G (p.Pro1024Arg) c.968C>G (p.Pro323Arg) c.3410C>G (p.Pro1137Arg) c.1730C>G (p.Pro577Arg) | |
X | g.108665528C>T | CA413847165 | COL4A5 | c.3395C>T (p.Pro1132Leu) c.3071C>T (p.Pro1024Leu) c.968C>T (p.Pro323Leu) c.3410C>T (p.Pro1137Leu) c.1730C>T (p.Pro577Leu) | |
X | g.108665529A= | CA2450711978 | COL4A5 | c.3396A= (p.Pro1132=) c.3072A= (p.Pro1024=) c.969A= (p.Pro323=) c.3411A= (p.Pro1137=) c.1731A= (p.Pro577=) | |
X | g.108665529A>C | CA517922235 | COL4A5 | c.3396A>C (p.Pro1132=) c.3072A>C (p.Pro1024=) c.969A>C (p.Pro323=) c.3411A>C (p.Pro1137=) c.1731A>C (p.Pro577=) | |
X | g.108665529A>G | CA517922237 | COL4A5 | c.3396A>G (p.Pro1132=) c.3072A>G (p.Pro1024=) c.969A>G (p.Pro323=) c.3411A>G (p.Pro1137=) c.1731A>G (p.Pro577=) | dbSNP gnomAD v4 |
X | g.108665529A>T | CA517922238 | COL4A5 | c.3396A>T (p.Pro1132=) c.3072A>T (p.Pro1024=) c.969A>T (p.Pro323=) c.3411A>T (p.Pro1137=) c.1731A>T (p.Pro577=) | |
X | g.108665532del | CA2579676776 | COL4A5 | c.3399del (p.Gly1134ValfsTer18) c.3075del (p.Gly1026ValfsTer18) c.972del (p.Gly325ValfsTer18) c.3414del (p.Gly1139ValfsTer18) c.1734del (p.Gly579ValfsTer18) | ClinVar |
X | g.108665530A>C | CA413847168 | COL4A5 | c.3397A>C (p.Lys1133Gln) c.3073A>C (p.Lys1025Gln) c.970A>C (p.Lys324Gln) c.3412A>C (p.Lys1138Gln) c.1732A>C (p.Lys578Gln) | |
X | g.108665530A>G | CA413847170 | COL4A5 | c.3397A>G (p.Lys1133Glu) c.3073A>G (p.Lys1025Glu) c.970A>G (p.Lys324Glu) c.3412A>G (p.Lys1138Glu) c.1732A>G (p.Lys578Glu) | |
X | g.108665530A>T | CA413847172 | COL4A5 | c.3397A>T (p.Lys1133Ter) c.3073A>T (p.Lys1025Ter) c.970A>T (p.Lys324Ter) c.3412A>T (p.Lys1138Ter) c.1732A>T (p.Lys578Ter) | |
X | g.108665531A>C | CA413847175 | COL4A5 | c.3398A>C (p.Lys1133Thr) c.3074A>C (p.Lys1025Thr) c.971A>C (p.Lys324Thr) c.3413A>C (p.Lys1138Thr) c.1733A>C (p.Lys578Thr) | |
X | g.108665531A>G | CA413847177 | COL4A5 | c.3398A>G (p.Lys1133Arg) c.3074A>G (p.Lys1025Arg) c.971A>G (p.Lys324Arg) c.3413A>G (p.Lys1138Arg) c.1733A>G (p.Lys578Arg) | |
X | g.108665531A>T | CA413847179 | COL4A5 | c.3398A>T (p.Lys1133Ile) c.3074A>T (p.Lys1025Ile) c.971A>T (p.Lys324Ile) c.3413A>T (p.Lys1138Ile) c.1733A>T (p.Lys578Ile) | |
X | g.108665532A>C | CA413847181 | COL4A5 | c.3399A>C (p.Lys1133Asn) c.3075A>C (p.Lys1025Asn) c.972A>C (p.Lys324Asn) c.3414A>C (p.Lys1138Asn) c.1734A>C (p.Lys578Asn) | |
X | g.108665532A>G | CA517922239 | COL4A5 | c.3399A>G (p.Lys1133=) c.3075A>G (p.Lys1025=) c.972A>G (p.Lys324=) c.3414A>G (p.Lys1138=) c.1734A>G (p.Lys578=) | |
X | g.108665532A>T | CA413847183 | COL4A5 | c.3399A>T (p.Lys1133Asn) c.3075A>T (p.Lys1025Asn) c.972A>T (p.Lys324Asn) c.3414A>T (p.Lys1138Asn) c.1734A>T (p.Lys578Asn) | |
X | g.108665533G>A | CA413847186 | COL4A5 | c.3400G>A (p.Gly1134Ser) c.3076G>A (p.Gly1026Ser) c.973G>A (p.Gly325Ser) c.3415G>A (p.Gly1139Ser) c.1735G>A (p.Gly579Ser) | ClinVar |
X | g.108665533G>C | CA413847190 | COL4A5 | c.3400G>C (p.Gly1134Arg) c.3076G>C (p.Gly1026Arg) c.973G>C (p.Gly325Arg) c.3415G>C (p.Gly1139Arg) c.1735G>C (p.Gly579Arg) | |
X | g.108665533G= | CA2450711979 | COL4A5 | c.3400G= (p.Gly1134=) c.3076G= (p.Gly1026=) c.973G= (p.Gly325=) c.3415G= (p.Gly1139=) c.1735G= (p.Gly579=) | |
X | g.108665533G>T | CA413847188 | COL4A5 | c.3400G>T (p.Gly1134Cys) c.3076G>T (p.Gly1026Cys) c.973G>T (p.Gly325Cys) c.3415G>T (p.Gly1139Cys) c.1735G>T (p.Gly579Cys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108665533_108665534insAT | CA2568587870 | COL4A5 | c.3400_3401insAT (p.Gly1134AspfsTer19) c.3076_3077insAT (p.Gly1026AspfsTer19) c.973_974insAT (p.Gly325AspfsTer19) c.3415_3416insAT (p.Gly1139AspfsTer19) c.1735_1736insAT (p.Gly579AspfsTer19) | |
X | g.108665534G>A | CA413847192 | COL4A5 | c.3401G>A (p.Gly1134Asp) c.3077G>A (p.Gly1026Asp) c.974G>A (p.Gly325Asp) c.3416G>A (p.Gly1139Asp) c.1736G>A (p.Gly579Asp) | dbSNP |
X | g.108665534G>C | CA413847194 | COL4A5 | c.3401G>C (p.Gly1134Ala) c.3077G>C (p.Gly1026Ala) c.974G>C (p.Gly325Ala) c.3416G>C (p.Gly1139Ala) c.1736G>C (p.Gly579Ala) | gnomAD v4 |
X | g.108665534G= | CA2450711980 | COL4A5 | c.3401G= (p.Gly1134=) c.3077G= (p.Gly1026=) c.974G= (p.Gly325=) c.3416G= (p.Gly1139=) c.1736G= (p.Gly579=) | |
X | g.108665534G>T | CA413847196 | COL4A5 | c.3401G>T (p.Gly1134Val) c.3077G>T (p.Gly1026Val) c.974G>T (p.Gly325Val) c.3416G>T (p.Gly1139Val) c.1736G>T (p.Gly579Val) | gnomAD v4 |
X | g.108665534_108665535insCTGGTGTTTGTTGGC | CA2552270300 | COL4A5 | c.3401_3402insCTGGTGTTTGTTGGC (p.Gly1134_Ile1135insTrpCysLeuLeuAla) c.3077_3078insCTGGTGTTTGTTGGC (p.Gly1026_Ile1027insTrpCysLeuLeuAla) c.974_975insCTGGTGTTTGTTGGC (p.Gly325_Ile326insTrpCysLeuLeuAla) c.3416_3417insCTGGTGTTTGTTGGC (p.Gly1139_Ile1140insTrpCysLeuLeuAla) c.1736_1737insCTGGTGTTTGTTGGC (p.Gly579_Ile580insTrpCysLeuLeuAla) | |
X | g.108665535T>A | CA517922240 | COL4A5 | c.3402T>A (p.Gly1134=) c.3078T>A (p.Gly1026=) c.975T>A (p.Gly325=) c.3417T>A (p.Gly1139=) c.1737T>A (p.Gly579=) | |
X | g.108665535T>C | CA517922241 | COL4A5 | c.3402T>C (p.Gly1134=) c.3078T>C (p.Gly1026=) c.975T>C (p.Gly325=) c.3417T>C (p.Gly1139=) c.1737T>C (p.Gly579=) | |
X | g.108665535T>G | CA517922242 | COL4A5 | c.3402T>G (p.Gly1134=) c.3078T>G (p.Gly1026=) c.975T>G (p.Gly325=) c.3417T>G (p.Gly1139=) c.1737T>G (p.Gly579=) | |
X | g.108665535_108665551delinsTATTAGTGGCCCTCCTG | CA2450711981 | COL4A5 | c.3402_3418delinsTATTAGTGGCCCTCCTG (p.Gly1134=) c.3078_3094delinsTATTAGTGGCCCTCCTG (p.Gly1026=) c.975_991delinsTATTAGTGGCCCTCCTG (p.Gly325=) c.3417_3433delinsTATTAGTGGCCCTCCTG (p.Gly1139=) c.1737_1753delinsTATTAGTGGCCCTCCTG (p.Gly579=) | |
X | g.108665536A= | CA2450711982 | COL4A5 | c.3403A= (p.Ile1135=) c.3079A= (p.Ile1027=) c.976A= (p.Ile326=) c.3418A= (p.Ile1140=) c.1738A= (p.Ile580=) | |
X | g.108665536A>C | CA413847198 | COL4A5 | c.3403A>C (p.Ile1135Leu) c.3079A>C (p.Ile1027Leu) c.976A>C (p.Ile326Leu) c.3418A>C (p.Ile1140Leu) c.1738A>C (p.Ile580Leu) | |
X | g.108665536A>G | CA10489105 | COL4A5 | c.3403A>G (p.Ile1135Val) c.3079A>G (p.Ile1027Val) c.976A>G (p.Ile326Val) c.3418A>G (p.Ile1140Val) c.1738A>G (p.Ile580Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108665536A>T | CA413847200 | COL4A5 | c.3403A>T (p.Ile1135Phe) c.3079A>T (p.Ile1027Phe) c.976A>T (p.Ile326Phe) c.3418A>T (p.Ile1140Phe) c.1738A>T (p.Ile580Phe) | |
X | g.108665536_108665551delinsCCA | CA2695235645 | COL4A5 | c.3403_3418delinsCCA (p.Ile1135ProfsTer13) c.3079_3094delinsCCA (p.Ile1027ProfsTer13) c.976_991delinsCCA (p.Ile326ProfsTer13) c.3418_3433delinsCCA (p.Ile1140ProfsTer13) c.1738_1753delinsCCA (p.Ile580ProfsTer13) | |
X | g.108665537T>A | CA413847201 | COL4A5 | c.3404T>A (p.Ile1135Asn) c.3080T>A (p.Ile1027Asn) c.977T>A (p.Ile326Asn) c.3419T>A (p.Ile1140Asn) c.1739T>A (p.Ile580Asn) | |
X | g.108665537T>C | CA413847203 | COL4A5 | c.3404T>C (p.Ile1135Thr) c.3080T>C (p.Ile1027Thr) c.977T>C (p.Ile326Thr) c.3419T>C (p.Ile1140Thr) c.1739T>C (p.Ile580Thr) | dbSNP |
X | g.108665537T>G | CA413847205 | COL4A5 | c.3404T>G (p.Ile1135Ser) c.3080T>G (p.Ile1027Ser) c.977T>G (p.Ile326Ser) c.3419T>G (p.Ile1140Ser) c.1739T>G (p.Ile580Ser) | |
X | g.108665537T= | CA2450711983 | COL4A5 | c.3404T= (p.Ile1135=) c.3080T= (p.Ile1027=) c.977T= (p.Ile326=) c.3419T= (p.Ile1140=) c.1739T= (p.Ile580=) | |
X | g.108665538T>A | CA517922243 | COL4A5 | c.3405T>A (p.Ile1135=) c.3081T>A (p.Ile1027=) c.978T>A (p.Ile326=) c.3420T>A (p.Ile1140=) c.1740T>A (p.Ile580=) | |
X | g.108665538T>C | CA517922244 | COL4A5 | c.3405T>C (p.Ile1135=) c.3081T>C (p.Ile1027=) c.978T>C (p.Ile326=) c.3420T>C (p.Ile1140=) c.1740T>C (p.Ile580=) | |
X | g.108665538T>G | CA413847207 | COL4A5 | c.3405T>G (p.Ile1135Met) c.3081T>G (p.Ile1027Met) c.978T>G (p.Ile326Met) c.3420T>G (p.Ile1140Met) c.1740T>G (p.Ile580Met) | |
X | g.108665539A>C | CA413847210 | COL4A5 | c.3406A>C (p.Ser1136Arg) c.3082A>C (p.Ser1028Arg) c.979A>C (p.Ser327Arg) c.3421A>C (p.Ser1141Arg) c.1741A>C (p.Ser581Arg) | |
X | g.108665539A>G | CA413847211 | COL4A5 | c.3406A>G (p.Ser1136Gly) c.3082A>G (p.Ser1028Gly) c.979A>G (p.Ser327Gly) c.3421A>G (p.Ser1141Gly) c.1741A>G (p.Ser581Gly) | |
X | g.108665539A>T | CA413847213 | COL4A5 | c.3406A>T (p.Ser1136Cys) c.3082A>T (p.Ser1028Cys) c.979A>T (p.Ser327Cys) c.3421A>T (p.Ser1141Cys) c.1741A>T (p.Ser581Cys) | |
X | g.108665540G>A | CA413847219 | COL4A5 | c.3407G>A (p.Ser1136Asn) c.3083G>A (p.Ser1028Asn) c.980G>A (p.Ser327Asn) c.3422G>A (p.Ser1141Asn) c.1742G>A (p.Ser581Asn) | |
X | g.108665540G>C | CA413847215 | COL4A5 | c.3407G>C (p.Ser1136Thr) c.3083G>C (p.Ser1028Thr) c.980G>C (p.Ser327Thr) c.3422G>C (p.Ser1141Thr) c.1742G>C (p.Ser581Thr) | |
X | g.108665540G>T | CA413847217 | COL4A5 | c.3407G>T (p.Ser1136Ile) c.3083G>T (p.Ser1028Ile) c.980G>T (p.Ser327Ile) c.3422G>T (p.Ser1141Ile) c.1742G>T (p.Ser581Ile) | |
X | g.108665541T>A | CA413847221 | COL4A5 | c.3408T>A (p.Ser1136Arg) c.3084T>A (p.Ser1028Arg) c.981T>A (p.Ser327Arg) c.3423T>A (p.Ser1141Arg) c.1743T>A (p.Ser581Arg) | |
X | g.108665541T>C | CA517922245 | COL4A5 | c.3408T>C (p.Ser1136=) c.3084T>C (p.Ser1028=) c.981T>C (p.Ser327=) c.3423T>C (p.Ser1141=) c.1743T>C (p.Ser581=) | |
X | g.108665541T>G | CA413847224 | COL4A5 | c.3408T>G (p.Ser1136Arg) c.3084T>G (p.Ser1028Arg) c.981T>G (p.Ser327Arg) c.3423T>G (p.Ser1141Arg) c.1743T>G (p.Ser581Arg) | |
X | g.108665542G>A | CA413847227 | COL4A5 | c.3409G>A (p.Gly1137Ser) c.3085G>A (p.Gly1029Ser) c.982G>A (p.Gly328Ser) c.3424G>A (p.Gly1142Ser) c.1744G>A (p.Gly582Ser) | |
X | g.108665542G>C | CA413847229 | COL4A5 | c.3409G>C (p.Gly1137Arg) c.3085G>C (p.Gly1029Arg) c.982G>C (p.Gly328Arg) c.3424G>C (p.Gly1142Arg) c.1744G>C (p.Gly582Arg) | |
X | g.108665542G= | CA2450711984 | COL4A5 | c.3409G= (p.Gly1137=) c.3085G= (p.Gly1029=) c.982G= (p.Gly328=) c.3424G= (p.Gly1142=) c.1744G= (p.Gly582=) | |
X | g.108665542G>T | CA413847230 | COL4A5 | c.3409G>T (p.Gly1137Cys) c.3085G>T (p.Gly1029Cys) c.982G>T (p.Gly328Cys) c.3424G>T (p.Gly1142Cys) c.1744G>T (p.Gly582Cys) | ClinVar dbSNP |
X | g.108665543G>A | CA413847232 | COL4A5 | c.3410G>A (p.Gly1137Asp) c.3086G>A (p.Gly1029Asp) c.983G>A (p.Gly328Asp) c.3425G>A (p.Gly1142Asp) c.1745G>A (p.Gly582Asp) | ClinVar dbSNP |
X | g.108665543G>C | CA413847233 | COL4A5 | c.3410G>C (p.Gly1137Ala) c.3086G>C (p.Gly1029Ala) c.983G>C (p.Gly328Ala) c.3425G>C (p.Gly1142Ala) c.1745G>C (p.Gly582Ala) | |
X | g.108665543G= | CA2450711986 | COL4A5 | c.3410G= (p.Gly1137=) c.3086G= (p.Gly1029=) c.983G= (p.Gly328=) c.3425G= (p.Gly1142=) c.1745G= (p.Gly582=) | |
X | g.108665543G>T | CA413847234 | COL4A5 | c.3410G>T (p.Gly1137Val) c.3086G>T (p.Gly1029Val) c.983G>T (p.Gly328Val) c.3425G>T (p.Gly1142Val) c.1745G>T (p.Gly582Val) | gnomAD v4 |
X | g.108665543_108665544delinsGC | CA2450711985 | COL4A5 | c.3410_3411delinsGC (p.Gly1137=) c.3086_3087delinsGC (p.Gly1029=) c.983_984delinsGC (p.Gly328=) c.3425_3426delinsGC (p.Gly1142=) c.1745_1746delinsGC (p.Gly582=) | |
X | g.108665544C>A | CA517922246 | COL4A5 | c.3411C>A (p.Gly1137=) c.3087C>A (p.Gly1029=) c.984C>A (p.Gly328=) c.3426C>A (p.Gly1142=) c.1746C>A (p.Gly582=) | ClinVar dbSNP |
X | g.108665544C>G | CA517922247 | COL4A5 | c.3411C>G (p.Gly1137=) c.3087C>G (p.Gly1029=) c.984C>G (p.Gly328=) c.3426C>G (p.Gly1142=) c.1746C>G (p.Gly582=) | |
X | g.108665544C>T | CA517922248 | COL4A5 | c.3411C>T (p.Gly1137=) c.3087C>T (p.Gly1029=) c.984C>T (p.Gly328=) c.3426C>T (p.Gly1142=) c.1746C>T (p.Gly582=) | |
X | g.108665546del | CA258864 | COL4A5 | c.3413del (p.Pro1138LeufsTer14) c.3089del (p.Pro1030LeufsTer14) c.986del (p.Pro329LeufsTer14) c.3428del (p.Pro1143LeufsTer14) c.1748del (p.Pro583LeufsTer14) | dbSNP |
X | g.108665545C>A | CA413847237 | COL4A5 | c.3412C>A (p.Pro1138Thr) c.3088C>A (p.Pro1030Thr) c.985C>A (p.Pro329Thr) c.3427C>A (p.Pro1143Thr) c.1747C>A (p.Pro583Thr) | |
X | g.108665545C>G | CA413847238 | COL4A5 | c.3412C>G (p.Pro1138Ala) c.3088C>G (p.Pro1030Ala) c.985C>G (p.Pro329Ala) c.3427C>G (p.Pro1143Ala) c.1747C>G (p.Pro583Ala) | |
X | g.108665545C>T | CA413847240 | COL4A5 | c.3412C>T (p.Pro1138Ser) c.3088C>T (p.Pro1030Ser) c.985C>T (p.Pro329Ser) c.3427C>T (p.Pro1143Ser) c.1747C>T (p.Pro583Ser) | gnomAD v4 |
X | g.108665546C>A | CA413847244 | COL4A5 | c.3413C>A (p.Pro1138His) c.3089C>A (p.Pro1030His) c.986C>A (p.Pro329His) c.3428C>A (p.Pro1143His) c.1748C>A (p.Pro583His) | |
X | g.108665546C>G | CA413847243 | COL4A5 | c.3413C>G (p.Pro1138Arg) c.3089C>G (p.Pro1030Arg) c.986C>G (p.Pro329Arg) c.3428C>G (p.Pro1143Arg) c.1748C>G (p.Pro583Arg) | |
X | g.108665546C>T | CA413847247 | COL4A5 | c.3413C>T (p.Pro1138Leu) c.3089C>T (p.Pro1030Leu) c.986C>T (p.Pro329Leu) c.3428C>T (p.Pro1143Leu) c.1748C>T (p.Pro583Leu) | |
X | g.108665547T>A | CA517922251 | COL4A5 | c.3414T>A (p.Pro1138=) c.3090T>A (p.Pro1030=) c.987T>A (p.Pro329=) c.3429T>A (p.Pro1143=) c.1749T>A (p.Pro583=) | |
X | g.108665547T>C | CA517922250 | COL4A5 | c.3414T>C (p.Pro1138=) c.3090T>C (p.Pro1030=) c.987T>C (p.Pro329=) c.3429T>C (p.Pro1143=) c.1749T>C (p.Pro583=) | |
X | g.108665547T>G | CA517922249 | COL4A5 | c.3414T>G (p.Pro1138=) c.3090T>G (p.Pro1030=) c.987T>G (p.Pro329=) c.3429T>G (p.Pro1143=) c.1749T>G (p.Pro583=) | |
X | g.108665548C>A | CA413847249 | COL4A5 | c.3415C>A (p.Pro1139Thr) c.3091C>A (p.Pro1031Thr) c.988C>A (p.Pro330Thr) c.3430C>A (p.Pro1144Thr) c.1750C>A (p.Pro584Thr) | |
X | g.108665548C>G | CA413847251 | COL4A5 | c.3415C>G (p.Pro1139Ala) c.3091C>G (p.Pro1031Ala) c.988C>G (p.Pro330Ala) c.3430C>G (p.Pro1144Ala) c.1750C>G (p.Pro584Ala) | |
X | g.108665548C>T | CA413847253 | COL4A5 | c.3415C>T (p.Pro1139Ser) c.3091C>T (p.Pro1031Ser) c.988C>T (p.Pro330Ser) c.3430C>T (p.Pro1144Ser) c.1750C>T (p.Pro584Ser) | gnomAD v4 |
X | g.108665549C>A | CA413847255 | COL4A5 | c.3416C>A (p.Pro1139His) c.3092C>A (p.Pro1031His) c.989C>A (p.Pro330His) c.3431C>A (p.Pro1144His) c.1751C>A (p.Pro584His) | gnomAD v4 |
X | g.108665549C>G | CA413847257 | COL4A5 | c.3416C>G (p.Pro1139Arg) c.3092C>G (p.Pro1031Arg) c.989C>G (p.Pro330Arg) c.3431C>G (p.Pro1144Arg) c.1751C>G (p.Pro584Arg) | |
X | g.108665549C>T | CA413847259 | COL4A5 | c.3416C>T (p.Pro1139Leu) c.3092C>T (p.Pro1031Leu) c.989C>T (p.Pro330Leu) c.3431C>T (p.Pro1144Leu) c.1751C>T (p.Pro584Leu) | |
X | g.108665550T>A | CA517922252 | COL4A5 | c.3417T>A (p.Pro1139=) c.3093T>A (p.Pro1031=) c.990T>A (p.Pro330=) c.3432T>A (p.Pro1144=) c.1752T>A (p.Pro584=) | |
X | g.108665550T>C | CA517922253 | COL4A5 | c.3417T>C (p.Pro1139=) c.3093T>C (p.Pro1031=) c.990T>C (p.Pro330=) c.3432T>C (p.Pro1144=) c.1752T>C (p.Pro584=) | |
X | g.108665550T>G | CA517922254 | COL4A5 | c.3417T>G (p.Pro1139=) c.3093T>G (p.Pro1031=) c.990T>G (p.Pro330=) c.3432T>G (p.Pro1144=) c.1752T>G (p.Pro584=) | |
X | g.108665551G>A | CA413847261 | COL4A5 | c.3418G>A (p.Gly1140Arg) c.3094G>A (p.Gly1032Arg) c.991G>A (p.Gly331Arg) c.3433G>A (p.Gly1145Arg) c.1753G>A (p.Gly585Arg) | |
X | g.108665551G>C | CA413847262 | COL4A5 | c.3418G>C (p.Gly1140Arg) c.3094G>C (p.Gly1032Arg) c.991G>C (p.Gly331Arg) c.3433G>C (p.Gly1145Arg) c.1753G>C (p.Gly585Arg) | |
X | g.108665551G>T | CA413847264 | COL4A5 | c.3418G>T (p.Gly1140Trp) c.3094G>T (p.Gly1032Trp) c.991G>T (p.Gly331Trp) c.3433G>T (p.Gly1145Trp) c.1753G>T (p.Gly585Trp) | |
X | g.108665552G>A | CA413847267 | COL4A5 | c.3419G>A (p.Gly1140Glu) c.3095G>A (p.Gly1032Glu) c.992G>A (p.Gly331Glu) c.3434G>A (p.Gly1145Glu) c.1754G>A (p.Gly585Glu) | |
X | g.108665552G>C | CA413847268 | COL4A5 | c.3419G>C (p.Gly1140Ala) c.3095G>C (p.Gly1032Ala) c.992G>C (p.Gly331Ala) c.3434G>C (p.Gly1145Ala) c.1754G>C (p.Gly585Ala) | |
X | g.108665552G>T | CA413847271 | COL4A5 | c.3419G>T (p.Gly1140Val) c.3095G>T (p.Gly1032Val) c.992G>T (p.Gly331Val) c.3434G>T (p.Gly1145Val) c.1754G>T (p.Gly585Val) | |
X | g.108665553G>A | CA517922255 | COL4A5 | c.3420G>A (p.Gly1140=) c.3096G>A (p.Gly1032=) c.993G>A (p.Gly331=) c.3435G>A (p.Gly1145=) c.1755G>A (p.Gly585=) | gnomAD v4 |
X | g.108665553G>C | CA517922256 | COL4A5 | c.3420G>C (p.Gly1140=) c.3096G>C (p.Gly1032=) c.993G>C (p.Gly331=) c.3435G>C (p.Gly1145=) c.1755G>C (p.Gly585=) | |
X | g.108665553G>T | CA517922257 | COL4A5 | c.3420G>T (p.Gly1140=) c.3096G>T (p.Gly1032=) c.993G>T (p.Gly331=) c.3435G>T (p.Gly1145=) c.1755G>T (p.Gly585=) | |
X | g.108665554A>C | CA413847275 | COL4A5 | c.3421A>C (p.Asn1141His) c.3097A>C (p.Asn1033His) c.994A>C (p.Asn332His) c.3436A>C (p.Asn1146His) c.1756A>C (p.Asn586His) | |
X | g.108665554A>G | CA413847278 | COL4A5 | c.3421A>G (p.Asn1141Asp) c.3097A>G (p.Asn1033Asp) c.994A>G (p.Asn332Asp) c.3436A>G (p.Asn1146Asp) c.1756A>G (p.Asn586Asp) | |
X | g.108665554A>T | CA413847273 | COL4A5 | c.3421A>T (p.Asn1141Tyr) c.3097A>T (p.Asn1033Tyr) c.994A>T (p.Asn332Tyr) c.3436A>T (p.Asn1146Tyr) c.1756A>T (p.Asn586Tyr) | |
X | g.108665555A= | CA2450711987 | COL4A5 | c.3422A= (p.Asn1141=) c.3098A= (p.Asn1033=) c.995A= (p.Asn332=) c.3437A= (p.Asn1146=) c.1757A= (p.Asn586=) | |
X | g.108665555A>C | CA413847281 | COL4A5 | c.3422A>C (p.Asn1141Thr) c.3098A>C (p.Asn1033Thr) c.995A>C (p.Asn332Thr) c.3437A>C (p.Asn1146Thr) c.1757A>C (p.Asn586Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108665555A>G | CA413847282 | COL4A5 | c.3422A>G (p.Asn1141Ser) c.3098A>G (p.Asn1033Ser) c.995A>G (p.Asn332Ser) c.3437A>G (p.Asn1146Ser) c.1757A>G (p.Asn586Ser) | gnomAD v4 |
X | g.108665555A>T | CA413847284 | COL4A5 | c.3422A>T (p.Asn1141Ile) c.3098A>T (p.Asn1033Ile) c.995A>T (p.Asn332Ile) c.3437A>T (p.Asn1146Ile) c.1757A>T (p.Asn586Ile) | |
X | g.108665556C>A | CA413847286 | COL4A5 | c.3423C>A (p.Asn1141Lys) c.3099C>A (p.Asn1033Lys) c.996C>A (p.Asn332Lys) c.3438C>A (p.Asn1146Lys) c.1758C>A (p.Asn586Lys) | gnomAD v4 |
X | g.108665556C= | CA2450711988 | COL4A5 | c.3423C= (p.Asn1141=) c.3099C= (p.Asn1033=) c.996C= (p.Asn332=) c.3438C= (p.Asn1146=) c.1758C= (p.Asn586=) | |
X | g.108665556C>G | CA413847288 | COL4A5 | c.3423C>G (p.Asn1141Lys) c.3099C>G (p.Asn1033Lys) c.996C>G (p.Asn332Lys) c.3438C>G (p.Asn1146Lys) c.1758C>G (p.Asn586Lys) | |
X | g.108665556C>T | CA10489106 | COL4A5 | c.3423C>T (p.Asn1141=) c.3099C>T (p.Asn1033=) c.996C>T (p.Asn332=) c.3438C>T (p.Asn1146=) c.1758C>T (p.Asn586=) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.108665557C>A | CA413847290 | COL4A5 | c.3424C>A (p.Pro1142Thr) c.3100C>A (p.Pro1034Thr) c.997C>A (p.Pro333Thr) c.3439C>A (p.Pro1147Thr) c.1759C>A (p.Pro587Thr) | |
X | g.108665557C= | CA2450711989 | COL4A5 | c.3424C= (p.Pro1142=) c.3100C= (p.Pro1034=) c.997C= (p.Pro333=) c.3439C= (p.Pro1147=) c.1759C= (p.Pro587=) | |
X | g.108665557C>G | CA413847293 | COL4A5 | c.3424C>G (p.Pro1142Ala) c.3100C>G (p.Pro1034Ala) c.997C>G (p.Pro333Ala) c.3439C>G (p.Pro1147Ala) c.1759C>G (p.Pro587Ala) | |
X | g.108665557C>T | CA413847292 | COL4A5 | c.3424C>T (p.Pro1142Ser) c.3100C>T (p.Pro1034Ser) c.997C>T (p.Pro333Ser) c.3439C>T (p.Pro1147Ser) c.1759C>T (p.Pro587Ser) | ClinVar dbSNP |
X | g.108665558C>A | CA413847296 | COL4A5 | c.3425C>A (p.Pro1142His) c.3101C>A (p.Pro1034His) c.998C>A (p.Pro333His) c.3440C>A (p.Pro1147His) c.1760C>A (p.Pro587His) | |
X | g.108665558C>G | CA413847298 | COL4A5 | c.3425C>G (p.Pro1142Arg) c.3101C>G (p.Pro1034Arg) c.998C>G (p.Pro333Arg) c.3440C>G (p.Pro1147Arg) c.1760C>G (p.Pro587Arg) | |
X | g.108665558C>T | CA413847300 | COL4A5 | c.3425C>T (p.Pro1142Leu) c.3101C>T (p.Pro1034Leu) c.998C>T (p.Pro333Leu) c.3440C>T (p.Pro1147Leu) c.1760C>T (p.Pro587Leu) | |
X | g.108665559C>A | CA517922258 | COL4A5 | c.3426C>A (p.Pro1142=) c.3102C>A (p.Pro1034=) c.999C>A (p.Pro333=) c.3441C>A (p.Pro1147=) c.1761C>A (p.Pro587=) | |
X | g.108665559C= | CA2450711990 | COL4A5 | c.3426C= (p.Pro1142=) c.3102C= (p.Pro1034=) c.999C= (p.Pro333=) c.3441C= (p.Pro1147=) c.1761C= (p.Pro587=) | |
X | g.108665559C>G | CA517922259 | COL4A5 | c.3426C>G (p.Pro1142=) c.3102C>G (p.Pro1034=) c.999C>G (p.Pro333=) c.3441C>G (p.Pro1147=) c.1761C>G (p.Pro587=) | ClinVar |
X | g.108665559C>T | CA10489107 | COL4A5 | c.3426C>T (p.Pro1142=) c.3102C>T (p.Pro1034=) c.999C>T (p.Pro333=) c.3441C>T (p.Pro1147=) c.1761C>T (p.Pro587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108665560G>A | CA258865 | COL4A5 | c.3427G>A (p.Gly1143Ser) c.3103G>A (p.Gly1035Ser) c.1000G>A (p.Gly334Ser) c.3442G>A (p.Gly1148Ser) c.1762G>A (p.Gly588Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108665560G>C | CA413847307 | COL4A5 | c.3427G>C (p.Gly1143Arg) c.3103G>C (p.Gly1035Arg) c.1000G>C (p.Gly334Arg) c.3442G>C (p.Gly1148Arg) c.1762G>C (p.Gly588Arg) | |
X | g.108665560G= | CA2450711991 | COL4A5 | c.3427G= (p.Gly1143=) c.3103G= (p.Gly1035=) c.1000G= (p.Gly334=) c.3442G= (p.Gly1148=) c.1762G= (p.Gly588=) | |
X | g.108665560G>T | CA413847304 | COL4A5 | c.3427G>T (p.Gly1143Cys) c.3103G>T (p.Gly1035Cys) c.1000G>T (p.Gly334Cys) c.3442G>T (p.Gly1148Cys) c.1762G>T (p.Gly588Cys) | ClinVar dbSNP |
X | g.108665561G>A | CA255260 | COL4A5 | c.3428G>A (p.Gly1143Asp) c.3104G>A (p.Gly1035Asp) c.1001G>A (p.Gly334Asp) c.3443G>A (p.Gly1148Asp) c.1763G>A (p.Gly588Asp) | ClinVar dbSNP |
X | g.108665561G>C | CA413847309 | COL4A5 | c.3428G>C (p.Gly1143Ala) c.3104G>C (p.Gly1035Ala) c.1001G>C (p.Gly334Ala) c.3443G>C (p.Gly1148Ala) c.1763G>C (p.Gly588Ala) | |
X | g.108665561G= | CA2450711992 | COL4A5 | c.3428G= (p.Gly1143=) c.3104G= (p.Gly1035=) c.1001G= (p.Gly334=) c.3443G= (p.Gly1148=) c.1763G= (p.Gly588=) | |
X | g.108665561G>T | CA413847308 | COL4A5 | c.3428G>T (p.Gly1143Val) c.3104G>T (p.Gly1035Val) c.1001G>T (p.Gly334Val) c.3443G>T (p.Gly1148Val) c.1763G>T (p.Gly588Val) | |
X | g.108665561_108665562delinsTA | CA2739289606 | COL4A5 | c.3428_3429delinsTA (p.Gly1143Val) c.3104_3105delinsTA (p.Gly1035Val) c.1001_1002delinsTA (p.Gly334Val) c.3443_3444delinsTA (p.Gly1148Val) c.1763_1764delinsTA (p.Gly588Val) | |
X | g.108665562C>A | CA517922260 | COL4A5 | c.3429C>A (p.Gly1143=) c.3105C>A (p.Gly1035=) c.1002C>A (p.Gly334=) c.3444C>A (p.Gly1148=) c.1764C>A (p.Gly588=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108665562C= | CA2450711993 | COL4A5 | c.3429C= (p.Gly1143=) c.3105C= (p.Gly1035=) c.1002C= (p.Gly334=) c.3444C= (p.Gly1148=) c.1764C= (p.Gly588=) | |
X | g.108665562C>G | CA517922261 | COL4A5 | c.3429C>G (p.Gly1143=) c.3105C>G (p.Gly1035=) c.1002C>G (p.Gly334=) c.3444C>G (p.Gly1148=) c.1764C>G (p.Gly588=) | |
X | g.108665562C>T | CA517922262 | COL4A5 | c.3429C>T (p.Gly1143=) c.3105C>T (p.Gly1035=) c.1002C>T (p.Gly334=) c.3444C>T (p.Gly1148=) c.1764C>T (p.Gly588=) | |
X | g.108665563C>A | CA413847310 | COL4A5 | c.3430C>A (p.Leu1144Ile) c.3106C>A (p.Leu1036Ile) c.1003C>A (p.Leu335Ile) c.3445C>A (p.Leu1149Ile) c.1765C>A (p.Leu589Ile) | |
X | g.108665563C>G | CA413847313 | COL4A5 | c.3430C>G (p.Leu1144Val) c.3106C>G (p.Leu1036Val) c.1003C>G (p.Leu335Val) c.3445C>G (p.Leu1149Val) c.1765C>G (p.Leu589Val) | |
X | g.108665563C>T | CA413847311 | COL4A5 | c.3430C>T (p.Leu1144Phe) c.3106C>T (p.Leu1036Phe) c.1003C>T (p.Leu335Phe) c.3445C>T (p.Leu1149Phe) c.1765C>T (p.Leu589Phe) | |
X | g.108665564T>A | CA413847315 | COL4A5 | c.3431T>A (p.Leu1144His) c.3107T>A (p.Leu1036His) c.1004T>A (p.Leu335His) c.3446T>A (p.Leu1149His) c.1766T>A (p.Leu589His) | |
X | g.108665564T>C | CA413847317 | COL4A5 | c.3431T>C (p.Leu1144Pro) c.3107T>C (p.Leu1036Pro) c.1004T>C (p.Leu335Pro) c.3446T>C (p.Leu1149Pro) c.1766T>C (p.Leu589Pro) | |
X | g.108665564T>G | CA413847319 | COL4A5 | c.3431T>G (p.Leu1144Arg) c.3107T>G (p.Leu1036Arg) c.1004T>G (p.Leu335Arg) c.3446T>G (p.Leu1149Arg) c.1766T>G (p.Leu589Arg) | |
X | g.108665565T>A | CA517922263 | COL4A5 | c.3432T>A (p.Leu1144=) c.3108T>A (p.Leu1036=) c.1005T>A (p.Leu335=) c.3447T>A (p.Leu1149=) c.1767T>A (p.Leu589=) | ClinVar |
X | g.108665565T>C | CA517922264 | COL4A5 | c.3432T>C (p.Leu1144=) c.3108T>C (p.Leu1036=) c.1005T>C (p.Leu335=) c.3447T>C (p.Leu1149=) c.1767T>C (p.Leu589=) | |
X | g.108665565T>G | CA517922265 | COL4A5 | c.3432T>G (p.Leu1144=) c.3108T>G (p.Leu1036=) c.1005T>G (p.Leu335=) c.3447T>G (p.Leu1149=) c.1767T>G (p.Leu589=) | |
X | g.108665566C>A | CA413847322 | COL4A5 | c.3433C>A (p.Pro1145Thr) c.3109C>A (p.Pro1037Thr) c.1006C>A (p.Pro336Thr) c.3448C>A (p.Pro1150Thr) c.1768C>A (p.Pro590Thr) | |
X | g.108665566C= | CA2450711994 | COL4A5 | c.3433C= (p.Pro1145=) c.3109C= (p.Pro1037=) c.1006C= (p.Pro336=) c.3448C= (p.Pro1150=) c.1768C= (p.Pro590=) | |
X | g.108665566C>G | CA413847325 | COL4A5 | c.3433C>G (p.Pro1145Ala) c.3109C>G (p.Pro1037Ala) c.1006C>G (p.Pro336Ala) c.3448C>G (p.Pro1150Ala) c.1768C>G (p.Pro590Ala) | |
X | g.108665566C>T | CA334044950 | COL4A5 | c.3433C>T (p.Pro1145Ser) c.3109C>T (p.Pro1037Ser) c.1006C>T (p.Pro336Ser) c.3448C>T (p.Pro1150Ser) c.1768C>T (p.Pro590Ser) | dbSNP COSMIC |
X | g.108665567C>A | CA413847328 | COL4A5 | c.3434C>A (p.Pro1145Gln) c.3110C>A (p.Pro1037Gln) c.1007C>A (p.Pro336Gln) c.3449C>A (p.Pro1150Gln) c.1769C>A (p.Pro590Gln) | |
X | g.108665567C>G | CA413847330 | COL4A5 | c.3434C>G (p.Pro1145Arg) c.3110C>G (p.Pro1037Arg) c.1007C>G (p.Pro336Arg) c.3449C>G (p.Pro1150Arg) c.1769C>G (p.Pro590Arg) | |
X | g.108665567C>T | CA413847333 | COL4A5 | c.3434C>T (p.Pro1145Leu) c.3110C>T (p.Pro1037Leu) c.1007C>T (p.Pro336Leu) c.3449C>T (p.Pro1150Leu) c.1769C>T (p.Pro590Leu) | |
X | g.108665568A= | CA2450711995 | COL4A5 | c.3435A= (p.Pro1145=) c.3111A= (p.Pro1037=) c.1008A= (p.Pro336=) c.3450A= (p.Pro1150=) c.1770A= (p.Pro590=) | |
X | g.108665568A>C | CA517922268 | COL4A5 | c.3435A>C (p.Pro1145=) c.3111A>C (p.Pro1037=) c.1008A>C (p.Pro336=) c.3450A>C (p.Pro1150=) c.1770A>C (p.Pro590=) | |
X | g.108665568A>G | CA517922267 | COL4A5 | c.3435A>G (p.Pro1145=) c.3111A>G (p.Pro1037=) c.1008A>G (p.Pro336=) c.3450A>G (p.Pro1150=) c.1770A>G (p.Pro590=) | ClinVar dbSNP |
X | g.108665568A>T | CA517922266 | COL4A5 | c.3435A>T (p.Pro1145=) c.3111A>T (p.Pro1037=) c.1008A>T (p.Pro336=) c.3450A>T (p.Pro1150=) c.1770A>T (p.Pro590=) | |
X | g.108665569G>A | CA413847336 | COL4A5 | c.3436G>A (p.Gly1146Arg) c.3112G>A (p.Gly1038Arg) c.1009G>A (p.Gly337Arg) c.3451G>A (p.Gly1151Arg) c.1771G>A (p.Gly591Arg) | ClinVar dbSNP |
X | g.108665569G>C | CA413847342 | COL4A5 | c.3436G>C (p.Gly1146Arg) c.3112G>C (p.Gly1038Arg) c.1009G>C (p.Gly337Arg) c.3451G>C (p.Gly1151Arg) c.1771G>C (p.Gly591Arg) | |
X | g.108665569G>T | CA413847344 | COL4A5 | c.3436G>T (p.Gly1146Ter) c.3112G>T (p.Gly1038Ter) c.1009G>T (p.Gly337Ter) c.3451G>T (p.Gly1151Ter) c.1771G>T (p.Gly591Ter) | |
X | g.108665570G>A | CA413847352 | COL4A5 | c.3437G>A (p.Gly1146Glu) c.3113G>A (p.Gly1038Glu) c.1010G>A (p.Gly337Glu) c.3452G>A (p.Gly1151Glu) c.1772G>A (p.Gly591Glu) | ClinVar dbSNP |
X | g.108665570G>C | CA413847346 | COL4A5 | c.3437G>C (p.Gly1146Ala) c.3113G>C (p.Gly1038Ala) c.1010G>C (p.Gly337Ala) c.3452G>C (p.Gly1151Ala) c.1772G>C (p.Gly591Ala) | |
X | g.108665570G= | CA2450711996 | COL4A5 | c.3437G= (p.Gly1146=) c.3113G= (p.Gly1038=) c.1010G= (p.Gly337=) c.3452G= (p.Gly1151=) c.1772G= (p.Gly591=) | |
X | g.108665570G>T | CA413847349 | COL4A5 | c.3437G>T (p.Gly1146Val) c.3113G>T (p.Gly1038Val) c.1010G>T (p.Gly337Val) c.3452G>T (p.Gly1151Val) c.1772G>T (p.Gly591Val) | |
X | g.108665571A>C | CA517922269 | COL4A5 | c.3438A>C (p.Gly1146=) c.3114A>C (p.Gly1038=) c.1011A>C (p.Gly337=) c.3453A>C (p.Gly1151=) c.1773A>C (p.Gly591=) | |
X | g.108665571A>G | CA517922270 | COL4A5 | c.3438A>G (p.Gly1146=) c.3114A>G (p.Gly1038=) c.1011A>G (p.Gly337=) c.3453A>G (p.Gly1151=) c.1773A>G (p.Gly591=) | |
X | g.108665571A>T | CA517922271 | COL4A5 | c.3438A>T (p.Gly1146=) c.3114A>T (p.Gly1038=) c.1011A>T (p.Gly337=) c.3453A>T (p.Gly1151=) c.1773A>T (p.Gly591=) | |
X | g.108665572G>A | CA413847355 | COL4A5 | c.3439G>A (p.Glu1147Lys) c.3115G>A (p.Glu1039Lys) c.1012G>A (p.Glu338Lys) c.3454G>A (p.Glu1152Lys) c.1774G>A (p.Glu592Lys) | |
X | g.108665572G>C | CA413847357 | COL4A5 | c.3439G>C (p.Glu1147Gln) c.3115G>C (p.Glu1039Gln) c.1012G>C (p.Glu338Gln) c.3454G>C (p.Glu1152Gln) c.1774G>C (p.Glu592Gln) | |
X | g.108665572G>T | CA413847360 | COL4A5 | c.3439G>T (p.Glu1147Ter) c.3115G>T (p.Glu1039Ter) c.1012G>T (p.Glu338Ter) c.3454G>T (p.Glu1152Ter) c.1774G>T (p.Glu592Ter) | |
X | g.108665573A>C | CA413847364 | COL4A5 | c.3440A>C (p.Glu1147Ala) c.3116A>C (p.Glu1039Ala) c.1013A>C (p.Glu338Ala) c.3455A>C (p.Glu1152Ala) c.1775A>C (p.Glu592Ala) | |
X | g.108665573A>G | CA413847366 | COL4A5 | c.3440A>G (p.Glu1147Gly) c.3116A>G (p.Glu1039Gly) c.1013A>G (p.Glu338Gly) c.3455A>G (p.Glu1152Gly) c.1775A>G (p.Glu592Gly) | |
X | g.108665573A>T | CA413847369 | COL4A5 | c.3440A>T (p.Glu1147Val) c.3116A>T (p.Glu1039Val) c.1013A>T (p.Glu338Val) c.3455A>T (p.Glu1152Val) c.1775A>T (p.Glu592Val) | |
X | g.108665574A>C | CA413847371 | COL4A5 | c.3441A>C (p.Glu1147Asp) c.3117A>C (p.Glu1039Asp) c.1014A>C (p.Glu338Asp) c.3456A>C (p.Glu1152Asp) c.1776A>C (p.Glu592Asp) | |
X | g.108665574A>G | CA517922272 | COL4A5 | c.3441A>G (p.Glu1147=) c.3117A>G (p.Glu1039=) c.1014A>G (p.Glu338=) c.3456A>G (p.Glu1152=) c.1776A>G (p.Glu592=) | gnomAD v4 |
X | g.108665574A>T | CA413847375 | COL4A5 | c.3441A>T (p.Glu1147Asp) c.3117A>T (p.Glu1039Asp) c.1014A>T (p.Glu338Asp) c.3456A>T (p.Glu1152Asp) c.1776A>T (p.Glu592Asp) | |
X | g.108665575C>A | CA413847378 | COL4A5 | c.3442C>A (p.Pro1148Thr) c.3118C>A (p.Pro1040Thr) c.1015C>A (p.Pro339Thr) c.3457C>A (p.Pro1153Thr) c.1777C>A (p.Pro593Thr) | |
X | g.108665575C>G | CA413847381 | COL4A5 | c.3442C>G (p.Pro1148Ala) c.3118C>G (p.Pro1040Ala) c.1015C>G (p.Pro339Ala) c.3457C>G (p.Pro1153Ala) c.1777C>G (p.Pro593Ala) | |
X | g.108665575C>T | CA413847384 | COL4A5 | c.3442C>T (p.Pro1148Ser) c.3118C>T (p.Pro1040Ser) c.1015C>T (p.Pro339Ser) c.3457C>T (p.Pro1153Ser) c.1777C>T (p.Pro593Ser) | gnomAD v4 |
X | g.108665576C>A | CA413847393 | COL4A5 | c.3443C>A (p.Pro1148His) c.3119C>A (p.Pro1040His) c.1016C>A (p.Pro339His) c.3458C>A (p.Pro1153His) c.1778C>A (p.Pro593His) | gnomAD v4 |
X | g.108665576C>G | CA413847390 | COL4A5 | c.3443C>G (p.Pro1148Arg) c.3119C>G (p.Pro1040Arg) c.1016C>G (p.Pro339Arg) c.3458C>G (p.Pro1153Arg) c.1778C>G (p.Pro593Arg) | |
X | g.108665576C>T | CA413847387 | COL4A5 | c.3443C>T (p.Pro1148Leu) c.3119C>T (p.Pro1040Leu) c.1016C>T (p.Pro339Leu) c.3458C>T (p.Pro1153Leu) c.1778C>T (p.Pro593Leu) | gnomAD v4 |
X | g.108665577T>A | CA517922273 | COL4A5 | c.3444T>A (p.Pro1148=) c.3120T>A (p.Pro1040=) c.1017T>A (p.Pro339=) c.3459T>A (p.Pro1153=) c.1779T>A (p.Pro593=) | |
X | g.108665577T>C | CA517922275 | COL4A5 | c.3444T>C (p.Pro1148=) c.3120T>C (p.Pro1040=) c.1017T>C (p.Pro339=) c.3459T>C (p.Pro1153=) c.1779T>C (p.Pro593=) | |
X | g.108665577T>G | CA517922274 | COL4A5 | c.3444T>G (p.Pro1148=) c.3120T>G (p.Pro1040=) c.1017T>G (p.Pro339=) c.3459T>G (p.Pro1153=) c.1779T>G (p.Pro593=) | |
X | g.108665578G>A | CA413847397 | COL4A5 | c.3445G>A (p.Gly1149Ser) c.3121G>A (p.Gly1041Ser) c.1018G>A (p.Gly340Ser) c.3460G>A (p.Gly1154Ser) c.1780G>A (p.Gly594Ser) | |
X | g.108665578G>C | CA413847400 | COL4A5 | c.3445G>C (p.Gly1149Arg) c.3121G>C (p.Gly1041Arg) c.1018G>C (p.Gly340Arg) c.3460G>C (p.Gly1154Arg) c.1780G>C (p.Gly594Arg) | ClinVar dbSNP |
X | g.108665578G>T | CA413847403 | COL4A5 | c.3445G>T (p.Gly1149Cys) c.3121G>T (p.Gly1041Cys) c.1018G>T (p.Gly340Cys) c.3460G>T (p.Gly1154Cys) c.1780G>T (p.Gly594Cys) | |
X | g.108665579G>A | CA413847405 | COL4A5 | c.3446G>A (p.Gly1149Asp) c.3122G>A (p.Gly1041Asp) c.1019G>A (p.Gly340Asp) c.3461G>A (p.Gly1154Asp) c.1781G>A (p.Gly594Asp) | |
X | g.108665579G>C | CA413847408 | COL4A5 | c.3446G>C (p.Gly1149Ala) c.3122G>C (p.Gly1041Ala) c.1019G>C (p.Gly340Ala) c.3461G>C (p.Gly1154Ala) c.1781G>C (p.Gly594Ala) | |
X | g.108665579G>T | CA413847411 | COL4A5 | c.3446G>T (p.Gly1149Val) c.3122G>T (p.Gly1041Val) c.1019G>T (p.Gly340Val) c.3461G>T (p.Gly1154Val) c.1781G>T (p.Gly594Val) | |
X | g.108665580T>A | CA517922276 | COL4A5 | c.3447T>A (p.Gly1149=) c.3123T>A (p.Gly1041=) c.1020T>A (p.Gly340=) c.3462T>A (p.Gly1154=) c.1782T>A (p.Gly594=) | |
X | g.108665580T>C | CA517922277 | COL4A5 | c.3447T>C (p.Gly1149=) c.3123T>C (p.Gly1041=) c.1020T>C (p.Gly340=) c.3462T>C (p.Gly1154=) c.1782T>C (p.Gly594=) | ClinVar gnomAD v4 |
X | g.108665580T>G | CA517922278 | COL4A5 | c.3447T>G (p.Gly1149=) c.3123T>G (p.Gly1041=) c.1020T>G (p.Gly340=) c.3462T>G (p.Gly1154=) c.1782T>G (p.Gly594=) | |
X | g.108665581C>A | CA413847415 | COL4A5 | c.3448C>A (p.Pro1150Thr) c.3124C>A (p.Pro1042Thr) c.1021C>A (p.Pro341Thr) c.3463C>A (p.Pro1155Thr) c.1783C>A (p.Pro595Thr) | gnomAD v4 |
X | g.108665581C= | CA2450711997 | COL4A5 | c.3448C= (p.Pro1150=) c.3124C= (p.Pro1042=) c.1021C= (p.Pro341=) c.3463C= (p.Pro1155=) c.1783C= (p.Pro595=) | |
X | g.108665581C>G | CA413847421 | COL4A5 | c.3448C>G (p.Pro1150Ala) c.3124C>G (p.Pro1042Ala) c.1021C>G (p.Pro341Ala) c.3463C>G (p.Pro1155Ala) c.1783C>G (p.Pro595Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108665581C>T | CA413847423 | COL4A5 | c.3448C>T (p.Pro1150Ser) c.3124C>T (p.Pro1042Ser) c.1021C>T (p.Pro341Ser) c.3463C>T (p.Pro1155Ser) c.1783C>T (p.Pro595Ser) | dbSNP gnomAD v4 |
X | g.108665582C>A | CA413847427 | COL4A5 | c.3449C>A (p.Pro1150His) c.3125C>A (p.Pro1042His) c.1022C>A (p.Pro341His) c.3464C>A (p.Pro1155His) c.1784C>A (p.Pro595His) | gnomAD v4 |
X | g.108665582C>G | CA413847433 | COL4A5 | c.3449C>G (p.Pro1150Arg) c.3125C>G (p.Pro1042Arg) c.1022C>G (p.Pro341Arg) c.3464C>G (p.Pro1155Arg) c.1784C>G (p.Pro595Arg) | gnomAD v4 |
X | g.108665582C>T | CA413847437 | COL4A5 | c.3449C>T (p.Pro1150Leu) c.3125C>T (p.Pro1042Leu) c.1022C>T (p.Pro341Leu) c.3464C>T (p.Pro1155Leu) c.1784C>T (p.Pro595Leu) | |
X | g.108665583T>A | CA517922279 | COL4A5 | c.3450T>A (p.Pro1150=) c.3126T>A (p.Pro1042=) c.1023T>A (p.Pro341=) c.3465T>A (p.Pro1155=) c.1785T>A (p.Pro595=) | |
X | g.108665583T>C | CA517922280 | COL4A5 | c.3450T>C (p.Pro1150=) c.3126T>C (p.Pro1042=) c.1023T>C (p.Pro341=) c.3465T>C (p.Pro1155=) c.1785T>C (p.Pro595=) | gnomAD v4 |
X | g.108665583T>G | CA517922281 | COL4A5 | c.3450T>G (p.Pro1150=) c.3126T>G (p.Pro1042=) c.1023T>G (p.Pro341=) c.3465T>G (p.Pro1155=) c.1785T>G (p.Pro595=) | |
X | g.108665583T= | CA2450711998 | COL4A5 | c.3450T= (p.Pro1150=) c.3126T= (p.Pro1042=) c.1023T= (p.Pro341=) c.3465T= (p.Pro1155=) c.1785T= (p.Pro595=) | |
X | g.108665583_108665584insAC | CA891843680 | COL4A5 | c.3450_3451insAC (p.Val1151ThrfsTer2) c.3126_3127insAC (p.Val1043ThrfsTer2) c.1023_1024insAC (p.Val342ThrfsTer2) c.3465_3466insAC (p.Val1156ThrfsTer2) c.1785_1786insAC (p.Val596ThrfsTer2) | |
X | g.108665584G>A | CA413847447 | COL4A5 | c.3451G>A (p.Val1151Ile) c.3127G>A (p.Val1043Ile) c.1024G>A (p.Val342Ile) c.3466G>A (p.Val1156Ile) c.1786G>A (p.Val596Ile) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108665584G>C | CA413847443 | COL4A5 | c.3451G>C (p.Val1151Leu) c.3127G>C (p.Val1043Leu) c.1024G>C (p.Val342Leu) c.3466G>C (p.Val1156Leu) c.1786G>C (p.Val596Leu) | |
X | g.108665584G= | CA2450711999 | COL4A5 | c.3451G= (p.Val1151=) c.3127G= (p.Val1043=) c.1024G= (p.Val342=) c.3466G= (p.Val1156=) c.1786G= (p.Val596=) | |
X | g.108665584G>T | CA413847441 | COL4A5 | c.3451G>T (p.Val1151Leu) c.3127G>T (p.Val1043Leu) c.1024G>T (p.Val342Leu) c.3466G>T (p.Val1156Leu) c.1786G>T (p.Val596Leu) | |
X | g.108665587_108665590del | CA2579676782 | COL4A5 | c.3454_3454+3del c.3130_3130+3del c.1027_1027+3del c.3469_3469+3del c.1789_1789+3del | |
X | g.108665585del | CA2579676785 | COL4A5 | c.3452del (p.Val1151GlufsTer?) c.3128del (p.Val1043GlufsTer?) c.1025del (p.Val342GlufsTer?) c.3467del (p.Val1156GlufsTer?) c.1787del (p.Val596GlufsTer?) | |
X | g.108665585T>A | CA413847450 | COL4A5 | c.3452T>A (p.Val1151Glu) c.3128T>A (p.Val1043Glu) c.1025T>A (p.Val342Glu) c.3467T>A (p.Val1156Glu) c.1787T>A (p.Val596Glu) | gnomAD v4 |
X | g.108665585T>C | CA10489108 | COL4A5 | c.3452T>C (p.Val1151Ala) c.3128T>C (p.Val1043Ala) c.1025T>C (p.Val342Ala) c.3467T>C (p.Val1156Ala) c.1787T>C (p.Val596Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108665585T>G | CA413847455 | COL4A5 | c.3452T>G (p.Val1151Gly) c.3128T>G (p.Val1043Gly) c.1025T>G (p.Val342Gly) c.3467T>G (p.Val1156Gly) c.1787T>G (p.Val596Gly) | |
X | g.108665585T= | CA2450712000 | COL4A5 | c.3452T= (p.Val1151=) c.3128T= (p.Val1043=) c.1025T= (p.Val342=) c.3467T= (p.Val1156=) c.1787T= (p.Val596=) | |
X | g.108665586A>C | CA517922283 | COL4A5 | c.3453A>C (p.Val1151=) c.3129A>C (p.Val1043=) c.1026A>C (p.Val342=) c.3468A>C (p.Val1156=) c.1788A>C (p.Val596=) | |
X | g.108665586A>G | CA517922284 | COL4A5 | c.3453A>G (p.Val1151=) c.3129A>G (p.Val1043=) c.1026A>G (p.Val342=) c.3468A>G (p.Val1156=) c.1788A>G (p.Val596=) | |
X | g.108665586A>T | CA517922282 | COL4A5 | c.3453A>T (p.Val1151=) c.3129A>T (p.Val1043=) c.1026A>T (p.Val342=) c.3468A>T (p.Val1156=) c.1788A>T (p.Val596=) | |
X | g.108665586dup | CA2825002922 | COL4A5 | c.3453dup (p.Gly1152ArgfsTer?) c.3129dup (p.Gly1044ArgfsTer?) c.1026dup (p.Gly343ArgfsTer?) c.3468dup (p.Gly1157ArgfsTer?) c.1788dup (p.Gly597ArgfsTer?) | ClinVar |
X | g.108665587G>A | CA413847457 | COL4A5 | c.3454G>A (p.Gly1152Ser) c.3130G>A (p.Gly1044Ser) c.1027G>A (p.Gly343Ser) c.3469G>A (p.Gly1157Ser) c.1789G>A (p.Gly597Ser) | |
X | g.108665587G>C | CA413847459 | COL4A5 | c.3454G>C (p.Gly1152Arg) c.3130G>C (p.Gly1044Arg) c.1027G>C (p.Gly343Arg) c.3469G>C (p.Gly1157Arg) c.1789G>C (p.Gly597Arg) | |
X | g.108665587G>T | CA413847463 | COL4A5 | c.3454G>T (p.Gly1152Cys) c.3130G>T (p.Gly1044Cys) c.1027G>T (p.Gly343Cys) c.3469G>T (p.Gly1157Cys) c.1789G>T (p.Gly597Cys) | ClinVar dbSNP |
X | g.108665588G>A | CA413847467 | COL4A5 | c.3454+1G>A (n.3454+1G>A) c.3130+1G>A (n.3130+1G>A) c.1027+1G>A (n.1027+1G>A) c.3469+1G>A (n.3469+1G>A) c.1789+1G>A (n.1789+1G>A) | ClinVar |
X | g.108665588G>C | CA413847469 | COL4A5 | c.3454+1G>C (n.3454+1G>C) c.3130+1G>C (n.3130+1G>C) c.1027+1G>C (n.1027+1G>C) c.3469+1G>C (n.3469+1G>C) c.1789+1G>C (n.1789+1G>C) | |
X | g.108665588G= | CA2450712001 | COL4A5 | c.3454+1G= (n.3454+1G=) c.3130+1G= (n.3130+1G=) c.1027+1G= (n.1027+1G=) c.3469+1G= (n.3469+1G=) c.1789+1G= (n.1789+1G=) | |
X | g.108665588G>T | CA258867 | COL4A5 | c.3454+1G>T (n.3454+1G>T) c.3130+1G>T (n.3130+1G>T) c.1027+1G>T (n.1027+1G>T) c.3469+1G>T (n.3469+1G>T) c.1789+1G>T (n.1789+1G>T) | dbSNP |
X | g.108665589del | CA2579676786 | COL4A5 | c.3454+2del (n.3454+2del) c.3130+2del (n.3130+2del) c.1027+2del (n.1027+2del) c.3469+2del (n.3469+2del) c.1789+2del (n.1789+2del) | |
X | g.108665589T>A | CA413847474 | COL4A5 | c.3454+2T>A (n.3454+2T>A) c.3130+2T>A (n.3130+2T>A) c.1027+2T>A (n.1027+2T>A) c.3469+2T>A (n.3469+2T>A) c.1789+2T>A (n.1789+2T>A) | |
X | g.108665589T>C | CA413847477 | COL4A5 | c.3454+2T>C (n.3454+2T>C) c.3130+2T>C (n.3130+2T>C) c.1027+2T>C (n.1027+2T>C) c.3469+2T>C (n.3469+2T>C) c.1789+2T>C (n.1789+2T>C) | |
X | g.108665589T>G | CA413847480 | COL4A5 | c.3454+2T>G (n.3454+2T>G) c.3130+2T>G (n.3130+2T>G) c.1027+2T>G (n.1027+2T>G) c.3469+2T>G (n.3469+2T>G) c.1789+2T>G (n.1789+2T>G) | |
X | g.108665590A>C | CA2697544715 | COL4A5 | c.3454+3A>C (n.3454+3A>C) c.3130+3A>C (n.3130+3A>C) c.1027+3A>C (n.1027+3A>C) c.3469+3A>C (n.3469+3A>C) c.1789+3A>C (n.1789+3A>C) | ClinVar |
X | g.108665591A>G | CA2694441293 | COL4A5 | c.3454+4A>G (n.3454+4A>G) c.3130+4A>G (n.3130+4A>G) c.1027+4A>G (n.1027+4A>G) c.3469+4A>G (n.3469+4A>G) c.1789+4A>G (n.1789+4A>G) | gnomAD v4 |
X | g.108665592G>A | CA2450712003 | COL4A5 | c.3454+5G>A (n.3454+5G>A) c.3130+5G>A (n.3130+5G>A) c.1027+5G>A (n.1027+5G>A) c.3469+5G>A (n.3469+5G>A) c.1789+5G>A (n.1789+5G>A) | dbSNP gnomAD v4 |
X | g.108665592G= | CA2450712002 | COL4A5 | c.3454+5G= (n.3454+5G=) c.3130+5G= (n.3130+5G=) c.1027+5G= (n.1027+5G=) c.3469+5G= (n.3469+5G=) c.1789+5G= (n.1789+5G=) | |
X | g.108665592G>T | CA10489109 | COL4A5 | c.3454+5G>T (n.3454+5G>T) c.3130+5G>T (n.3130+5G>T) c.1027+5G>T (n.1027+5G>T) c.3469+5G>T (n.3469+5G>T) c.1789+5G>T (n.1789+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108665593C>A | CA2694441294 | COL4A5 | c.3454+6C>A (n.3454+6C>A) c.3130+6C>A (n.3130+6C>A) c.1027+6C>A (n.1027+6C>A) c.3469+6C>A (n.3469+6C>A) c.1789+6C>A (n.1789+6C>A) | gnomAD v4 |
X | g.108665594A>C | CA2697544716 | COL4A5 | c.3454+7A>C (n.3454+7A>C) c.3130+7A>C (n.3130+7A>C) c.1027+7A>C (n.1027+7A>C) c.3469+7A>C (n.3469+7A>C) c.1789+7A>C (n.1789+7A>C) | ClinVar |
X | g.108665595T>C | CA10489110 | COL4A5 | c.3454+8T>C (n.3454+8T>C) c.3130+8T>C (n.3130+8T>C) c.1027+8T>C (n.1027+8T>C) c.3469+8T>C (n.3469+8T>C) c.1789+8T>C (n.1789+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108665595T= | CA2450712004 | COL4A5 | c.3454+8T= (n.3454+8T=) c.3130+8T= (n.3130+8T=) c.1027+8T= (n.1027+8T=) c.3469+8T= (n.3469+8T=) c.1789+8T= (n.1789+8T=) | |
X | g.108665596G>A | CA2694441295 | COL4A5 | c.3454+9G>A (n.3454+9G>A) c.3130+9G>A (n.3130+9G>A) c.1027+9G>A (n.1027+9G>A) c.3469+9G>A (n.3469+9G>A) c.1789+9G>A (n.1789+9G>A) | gnomAD v4 |
X | g.108665601dup | CA2694441296 | COL4A5 | c.3454+14dup (n.3454+14dup) c.3130+14dup (n.3130+14dup) c.1027+14dup (n.1027+14dup) c.3469+14dup (n.3469+14dup) c.1789+14dup (n.1789+14dup) | gnomAD v4 |
X | g.108665599_108665604dup | CA2579676789 | COL4A5 | c.3454+12_3454+17dup (n.3454+12_3454+17dup) c.3130+12_3130+17dup (n.3130+12_3130+17dup) c.1027+12_1027+17dup (n.1027+12_1027+17dup) c.3469+12_3469+17dup (n.3469+12_3469+17dup) c.1789+12_1789+17dup (n.1789+12_1789+17dup) | |
X | g.108665598A>G | CA2694441297 | COL4A5 | c.3454+11A>G (n.3454+11A>G) c.3130+11A>G (n.3130+11A>G) c.1027+11A>G (n.1027+11A>G) c.3469+11A>G (n.3469+11A>G) c.1789+11A>G (n.1789+11A>G) | gnomAD v4 |
X | g.108665601A= | CA2450712005 | COL4A5 | c.3454+14A= (n.3454+14A=) c.3130+14A= (n.3130+14A=) c.1027+14A= (n.1027+14A=) c.3469+14A= (n.3469+14A=) c.1789+14A= (n.1789+14A=) | |
X | g.108665601A>G | CA869811814 | COL4A5 | c.3454+14A>G (n.3454+14A>G) c.3130+14A>G (n.3130+14A>G) c.1027+14A>G (n.1027+14A>G) c.3469+14A>G (n.3469+14A>G) c.1789+14A>G (n.1789+14A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108665602T>G | CA10489111 | COL4A5 | c.3454+15T>G (n.3454+15T>G) c.3130+15T>G (n.3130+15T>G) c.1027+15T>G (n.1027+15T>G) c.3469+15T>G (n.3469+15T>G) c.1789+15T>G (n.1789+15T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108665602T= | CA2450712006 | COL4A5 | c.3454+15T= (n.3454+15T=) c.3130+15T= (n.3130+15T=) c.1027+15T= (n.1027+15T=) c.3469+15T= (n.3469+15T=) c.1789+15T= (n.1789+15T=) | |
X | g.108665605C>A | CA2694441298 | COL4A5 | c.3454+18C>A (n.3454+18C>A) c.3130+18C>A (n.3130+18C>A) c.1027+18C>A (n.1027+18C>A) c.3469+18C>A (n.3469+18C>A) c.1789+18C>A (n.1789+18C>A) | gnomAD v4 |
X | g.108665605C= | CA2450712007 | COL4A5 | c.3454+18C= (n.3454+18C=) c.3130+18C= (n.3130+18C=) c.1027+18C= (n.1027+18C=) c.3469+18C= (n.3469+18C=) c.1789+18C= (n.1789+18C=) | |
X | g.108665605C>T | CA10489112 | COL4A5 | c.3454+18C>T (n.3454+18C>T) c.3130+18C>T (n.3130+18C>T) c.1027+18C>T (n.1027+18C>T) c.3469+18C>T (n.3469+18C>T) c.1789+18C>T (n.1789+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108665606A>G | CA2694441299 | COL4A5 | c.3454+19A>G (n.3454+19A>G) c.3130+19A>G (n.3130+19A>G) c.1027+19A>G (n.1027+19A>G) c.3469+19A>G (n.3469+19A>G) c.1789+19A>G (n.1789+19A>G) | gnomAD v4 |
X | g.108665606A>T | CA2739273712 | COL4A5 | c.3454+19A>T (n.3454+19A>T) c.3130+19A>T (n.3130+19A>T) c.1027+19A>T (n.1027+19A>T) c.3469+19A>T (n.3469+19A>T) c.1789+19A>T (n.1789+19A>T) | ClinVar |
X | g.108665607G>A | CA2694441300 | COL4A5 | c.3454+20G>A (n.3454+20G>A) c.3130+20G>A (n.3130+20G>A) c.1027+20G>A (n.1027+20G>A) c.3469+20G>A (n.3469+20G>A) c.1789+20G>A (n.1789+20G>A) | gnomAD v4 |
X | g.108665608T>C | CA2694441301 | COL4A5 | c.3454+21T>C (n.3454+21T>C) c.3130+21T>C (n.3130+21T>C) c.1027+21T>C (n.1027+21T>C) c.3469+21T>C (n.3469+21T>C) c.1789+21T>C (n.1789+21T>C) | gnomAD v4 |
X | g.108665610T>C | CA10489113 | COL4A5 | c.3454+23T>C (n.3454+23T>C) c.3130+23T>C (n.3130+23T>C) c.1027+23T>C (n.1027+23T>C) c.3469+23T>C (n.3469+23T>C) c.1789+23T>C (n.1789+23T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108665610T= | CA2450712008 | COL4A5 | c.3454+23T= (n.3454+23T=) c.3130+23T= (n.3130+23T=) c.1027+23T= (n.1027+23T=) c.3469+23T= (n.3469+23T=) c.1789+23T= (n.1789+23T=) | |
X | g.108665611G>C | CA2694441302 | COL4A5 | c.3454+24G>C (n.3454+24G>C) c.3130+24G>C (n.3130+24G>C) c.1027+24G>C (n.1027+24G>C) c.3469+24G>C (n.3469+24G>C) c.1789+24G>C (n.1789+24G>C) | gnomAD v4 |
X | g.108665611G= | CA2450712009 | COL4A5 | c.3454+24G= (n.3454+24G=) c.3130+24G= (n.3130+24G=) c.1027+24G= (n.1027+24G=) c.3469+24G= (n.3469+24G=) c.1789+24G= (n.1789+24G=) | |
X | g.108665611G>T | CA10489114 | COL4A5 | c.3454+24G>T (n.3454+24G>T) c.3130+24G>T (n.3130+24G>T) c.1027+24G>T (n.1027+24G>T) c.3469+24G>T (n.3469+24G>T) c.1789+24G>T (n.1789+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108665612C>A | CA2694441303 | COL4A5 | c.3454+25C>A (n.3454+25C>A) c.3130+25C>A (n.3130+25C>A) c.1027+25C>A (n.1027+25C>A) c.3469+25C>A (n.3469+25C>A) c.1789+25C>A (n.1789+25C>A) | gnomAD v4 |
X | g.108665612C>T | CA2694441304 | COL4A5 | c.3454+25C>T (n.3454+25C>T) c.3130+25C>T (n.3130+25C>T) c.1027+25C>T (n.1027+25C>T) c.3469+25C>T (n.3469+25C>T) c.1789+25C>T (n.1789+25C>T) | gnomAD v4 |
X | g.108665613T>C | CA2694441305 | COL4A5 | c.3454+26T>C (n.3454+26T>C) c.3130+26T>C (n.3130+26T>C) c.1027+26T>C (n.1027+26T>C) c.3469+26T>C (n.3469+26T>C) c.1789+26T>C (n.1789+26T>C) | gnomAD v4 |
X | g.108665613T>G | CA2822901892 | COL4A5 | c.3454+26T>G (n.3454+26T>G) c.3130+26T>G (n.3130+26T>G) c.1027+26T>G (n.1027+26T>G) c.3469+26T>G (n.3469+26T>G) c.1789+26T>G (n.1789+26T>G) | |
X | g.108665614G>A | CA2450712011 | COL4A5 | c.3454+27G>A (n.3454+27G>A) c.3130+27G>A (n.3130+27G>A) c.1027+27G>A (n.1027+27G>A) c.3469+27G>A (n.3469+27G>A) c.1789+27G>A (n.1789+27G>A) | dbSNP gnomAD v4 |
X | g.108665614G= | CA2450712010 | COL4A5 | c.3454+27G= (n.3454+27G=) c.3130+27G= (n.3130+27G=) c.1027+27G= (n.1027+27G=) c.3469+27G= (n.3469+27G=) c.1789+27G= (n.1789+27G=) | |
X | g.108665615T>C | CA10489115 | COL4A5 | c.3454+28T>C (n.3454+28T>C) c.3130+28T>C (n.3130+28T>C) c.1027+28T>C (n.1027+28T>C) c.3469+28T>C (n.3469+28T>C) c.1789+28T>C (n.1789+28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108665615T= | CA2450712012 | COL4A5 | c.3454+28T= (n.3454+28T=) c.3130+28T= (n.3130+28T=) c.1027+28T= (n.1027+28T=) c.3469+28T= (n.3469+28T=) c.1789+28T= (n.1789+28T=) | |
X | g.108665618T>C | CA2694441306 | COL4A5 | c.3454+31T>C (n.3454+31T>C) c.3130+31T>C (n.3130+31T>C) c.1027+31T>C (n.1027+31T>C) c.3469+31T>C (n.3469+31T>C) c.1789+31T>C (n.1789+31T>C) | gnomAD v4 |
X | g.108665618T>G | CA10489116 | COL4A5 | c.3454+31T>G (n.3454+31T>G) c.3130+31T>G (n.3130+31T>G) c.1027+31T>G (n.1027+31T>G) c.3469+31T>G (n.3469+31T>G) c.1789+31T>G (n.1789+31T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108665618T= | CA2450712013 | COL4A5 | c.3454+31T= (n.3454+31T=) c.3130+31T= (n.3130+31T=) c.1027+31T= (n.1027+31T=) c.3469+31T= (n.3469+31T=) c.1789+31T= (n.1789+31T=) | |
X | g.108665619A= | CA2450712014 | COL4A5 | c.3454+32A= (n.3454+32A=) c.3130+32A= (n.3130+32A=) c.1027+32A= (n.1027+32A=) c.3469+32A= (n.3469+32A=) c.1789+32A= (n.1789+32A=) | |
X | g.108665619A>G | CA2450712015 | COL4A5 | c.3454+32A>G (n.3454+32A>G) c.3130+32A>G (n.3130+32A>G) c.1027+32A>G (n.1027+32A>G) c.3469+32A>G (n.3469+32A>G) c.1789+32A>G (n.1789+32A>G) | dbSNP |