Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169154498G>A | CA349137114 | LRP2 | c.12257C>T (p.Ala4086Val) c.3157C>T c.1285C>T (p.Leu429=) c.12128C>T (p.Ala4043Val) c.9968C>T (p.Ala3323Val) | |
2 | g.169154498G>C | CA349137116 | LRP2 | c.12257C>G (p.Ala4086Gly) c.3157C>G c.1285C>G (p.Leu429Val) c.12128C>G (p.Ala4043Gly) c.9968C>G (p.Ala3323Gly) | |
2 | g.169154498G= | CA1306305589 | LRP2 | c.12257C= (p.Ala4086=) c.3157C= c.1285C= (p.Leu429=) c.12128C= (p.Ala4043=) c.9968C= (p.Ala3323=) | |
2 | g.169154498G>T | CA1952855 | LRP2 | c.12257C>A (p.Ala4086Asp) c.3157C>A c.1285C>A (p.Leu429Met) c.12128C>A (p.Ala4043Asp) c.9968C>A (p.Ala3323Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154499C>A | CA349137119 | LRP2 | c.12256G>T (p.Ala4086Ser) c.3156G>T c.1284G>T (p.Lys428Asn) c.12127G>T (p.Ala4043Ser) c.9967G>T (p.Ala3323Ser) | |
2 | g.169154499C>G | CA349137122 | LRP2 | c.12256G>C (p.Ala4086Pro) c.3156G>C c.1284G>C (p.Lys428Asn) c.12127G>C (p.Ala4043Pro) c.9967G>C (p.Ala3323Pro) | |
2 | g.169154499C>T | CA349137123 | LRP2 | c.12256G>A (p.Ala4086Thr) c.3156G>A c.1284G>A (p.Lys428=) c.12127G>A (p.Ala4043Thr) c.9967G>A (p.Ala3323Thr) | gnomAD v4 |
2 | g.169154500T>A | CA349137125 | LRP2 | c.12255A>T (p.Gln4085His) c.3155A>T c.1283A>T (p.Lys428Met) c.12126A>T (p.Gln4042His) c.9966A>T (p.Gln3322His) | |
2 | g.169154500T>C | CA429922562 | LRP2 | c.12255A>G (p.Gln4085=) c.3155A>G c.1283A>G (p.Lys428Arg) c.12126A>G (p.Gln4042=) c.9966A>G (p.Gln3322=) | |
2 | g.169154500T>G | CA349137126 | LRP2 | c.12255A>C (p.Gln4085His) c.3155A>C c.1283A>C (p.Lys428Thr) c.12126A>C (p.Gln4042His) c.9966A>C (p.Gln3322His) | |
2 | g.169154501T>A | CA349137129 | LRP2 | c.12254A>T (p.Gln4085Leu) c.3154A>T c.1282A>T (p.Lys428Ter) c.12125A>T (p.Gln4042Leu) c.9965A>T (p.Gln3322Leu) | |
2 | g.169154501T>C | CA349137132 | LRP2 | c.12254A>G (p.Gln4085Arg) c.3154A>G c.1282A>G (p.Lys428Glu) c.12125A>G (p.Gln4042Arg) c.9965A>G (p.Gln3322Arg) | gnomAD v4 |
2 | g.169154501T>G | CA349137133 | LRP2 | c.12254A>C (p.Gln4085Pro) c.3154A>C c.1282A>C (p.Lys428Gln) c.12125A>C (p.Gln4042Pro) c.9965A>C (p.Gln3322Pro) | |
2 | g.169154502G>A | CA349137137 | LRP2 | c.12253C>T (p.Gln4085Ter) c.3153C>T c.1281C>T (p.Ser427=) c.12124C>T (p.Gln4042Ter) c.9964C>T (p.Gln3322Ter) | COSMIC |
2 | g.169154502G>C | CA349137139 | LRP2 | c.12253C>G (p.Gln4085Glu) c.3153C>G c.1281C>G (p.Ser427=) c.12124C>G (p.Gln4042Glu) c.9964C>G (p.Gln3322Glu) | |
2 | g.169154502G>T | CA349137135 | LRP2 | c.12253C>A (p.Gln4085Lys) c.3153C>A c.1281C>A (p.Ser427=) c.12124C>A (p.Gln4042Lys) c.9964C>A (p.Gln3322Lys) | gnomAD v4 |
2 | g.169154503G>A | CA429922564 | LRP2 | c.12252C>T (p.Ile4084=) c.3152C>T c.1280C>T (p.Ser427Phe) c.12123C>T (p.Ile4041=) c.9963C>T (p.Ile3321=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154503G>C | CA349137142 | LRP2 | c.12252C>G (p.Ile4084Met) c.3152C>G c.1280C>G (p.Ser427Cys) c.12123C>G (p.Ile4041Met) c.9963C>G (p.Ile3321Met) | |
2 | g.169154503G= | CA1306305592 | LRP2 | c.12252C= (p.Ile4084=) c.3152C= c.1280C= (p.Ser427=) c.12123C= (p.Ile4041=) c.9963C= (p.Ile3321=) | |
2 | g.169154503G>T | CA429922563 | LRP2 | c.12252C>A (p.Ile4084=) c.3152C>A c.1280C>A (p.Ser427Tyr) c.12123C>A (p.Ile4041=) c.9963C>A (p.Ile3321=) | |
2 | g.169154504A>C | CA349137145 | LRP2 | c.12251T>G (p.Ile4084Ser) c.3151T>G c.1279T>G (p.Ser427Ala) c.12122T>G (p.Ile4041Ser) c.9962T>G (p.Ile3321Ser) | |
2 | g.169154504A>G | CA349137147 | LRP2 | c.12251T>C (p.Ile4084Thr) c.3151T>C c.1279T>C (p.Ser427Pro) c.12122T>C (p.Ile4041Thr) c.9962T>C (p.Ile3321Thr) | |
2 | g.169154504A>T | CA349137154 | LRP2 | c.12251T>A (p.Ile4084Asn) c.3151T>A c.1279T>A (p.Ser427Thr) c.12122T>A (p.Ile4041Asn) c.9962T>A (p.Ile3321Asn) | |
2 | g.169154505T>A | CA349137156 | LRP2 | c.12250A>T (p.Ile4084Phe) c.3150A>T c.1278A>T (p.Ile426=) c.12121A>T (p.Ile4041Phe) c.9961A>T (p.Ile3321Phe) | |
2 | g.169154505T>C | CA349137159 | LRP2 | c.12250A>G (p.Ile4084Val) c.3150A>G c.1278A>G (p.Ile426Met) c.12121A>G (p.Ile4041Val) c.9961A>G (p.Ile3321Val) | |
2 | g.169154505T>G | CA349137160 | LRP2 | c.12250A>C (p.Ile4084Leu) c.3150A>C c.1278A>C (p.Ile426=) c.12121A>C (p.Ile4041Leu) c.9961A>C (p.Ile3321Leu) | |
2 | g.169154506A= | CA1306305597 | LRP2 | c.12249T= (p.Tyr4083=) c.3149T= c.1277T= (p.Ile426=) c.12120T= (p.Tyr4040=) c.9960T= (p.Tyr3320=) | |
2 | g.169154506A>C | CA349137164 | LRP2 | c.12249T>G (p.Tyr4083Ter) c.3149T>G c.1277T>G (p.Ile426Arg) c.12120T>G (p.Tyr4040Ter) c.9960T>G (p.Tyr3320Ter) | |
2 | g.169154506A>G | CA1952856 | LRP2 | c.12249T>C (p.Tyr4083=) c.3149T>C c.1277T>C (p.Ile426Thr) c.12120T>C (p.Tyr4040=) c.9960T>C (p.Tyr3320=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154506A>T | CA349137167 | LRP2 | c.12249T>A (p.Tyr4083Ter) c.3149T>A c.1277T>A (p.Ile426Lys) c.12120T>A (p.Tyr4040Ter) c.9960T>A (p.Tyr3320Ter) | |
2 | g.169154507T>A | CA349137172 | LRP2 | c.12248A>T (p.Tyr4083Phe) c.3148A>T c.1276A>T (p.Ile426Leu) c.12119A>T (p.Tyr4040Phe) c.9959A>T (p.Tyr3320Phe) | dbSNP |
2 | g.169154507T>C | CA349137174 | LRP2 | c.12248A>G (p.Tyr4083Cys) c.3148A>G c.1276A>G (p.Ile426Val) c.12119A>G (p.Tyr4040Cys) c.9959A>G (p.Tyr3320Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154507T>G | CA349137176 | LRP2 | c.12248A>C (p.Tyr4083Ser) c.3148A>C c.1276A>C (p.Ile426Leu) c.12119A>C (p.Tyr4040Ser) c.9959A>C (p.Tyr3320Ser) | |
2 | g.169154507T= | CA1306305602 | LRP2 | c.12248A= (p.Tyr4083=) c.3148A= c.1276A= (p.Ile426=) c.12119A= (p.Tyr4040=) c.9959A= (p.Tyr3320=) | |
2 | g.169154508A= | CA1306305604 | LRP2 | c.12247T= (p.Tyr4083=) c.3147T= c.1275T= (p.Asn425=) c.12118T= (p.Tyr4040=) c.9958T= (p.Tyr3320=) | |
2 | g.169154508A>C | CA349137183 | LRP2 | c.12247T>G (p.Tyr4083Asp) c.3147T>G c.1275T>G (p.Asn425Lys) c.12118T>G (p.Tyr4040Asp) c.9958T>G (p.Tyr3320Asp) | |
2 | g.169154508A>G | CA349137182 | LRP2 | c.12247T>C (p.Tyr4083His) c.3147T>C c.1275T>C (p.Asn425=) c.12118T>C (p.Tyr4040His) c.9958T>C (p.Tyr3320His) | |
2 | g.169154508A>T | CA349137179 | LRP2 | c.12247T>A (p.Tyr4083Asn) c.3147T>A c.1275T>A (p.Asn425Lys) c.12118T>A (p.Tyr4040Asn) c.9958T>A (p.Tyr3320Asn) | dbSNP |
2 | g.169154509T>A | CA349137185 | LRP2 | c.12246A>T (p.Glu4082Asp) c.3146A>T c.1274A>T (p.Asn425Ile) c.12117A>T (p.Glu4039Asp) c.9957A>T (p.Glu3319Asp) | gnomAD v4 |
2 | g.169154509T>C | CA429922566 | LRP2 | c.12246A>G (p.Glu4082=) c.3146A>G c.1274A>G (p.Asn425Ser) c.12117A>G (p.Glu4039=) c.9957A>G (p.Glu3319=) | gnomAD v4 |
2 | g.169154509T>G | CA349137189 | LRP2 | c.12246A>C (p.Glu4082Asp) c.3146A>C c.1274A>C (p.Asn425Thr) c.12117A>C (p.Glu4039Asp) c.9957A>C (p.Glu3319Asp) | |
2 | g.169154510T>A | CA349137191 | LRP2 | c.12245A>T (p.Glu4082Val) c.3145A>T c.1273A>T (p.Asn425Tyr) c.12116A>T (p.Glu4039Val) c.9956A>T (p.Glu3319Val) | |
2 | g.169154510T>C | CA349137193 | LRP2 | c.12245A>G (p.Glu4082Gly) c.3145A>G c.1273A>G (p.Asn425Asp) c.12116A>G (p.Glu4039Gly) c.9956A>G (p.Glu3319Gly) | |
2 | g.169154510T>G | CA349137196 | LRP2 | c.12245A>C (p.Glu4082Ala) c.3145A>C c.1273A>C (p.Asn425His) c.12116A>C (p.Glu4039Ala) c.9956A>C (p.Glu3319Ala) | |
2 | g.169154510_169154520del | CA2753099795 | LRP2 | c.12235_12245del (p.Gln4079IlefsTer6) c.3135_3145del c.1263_1273del (p.Phe421LeufsTer?) c.12106_12116del (p.Gln4036IlefsTer6) c.9946_9956del (p.Gln3316IlefsTer6) | |
2 | g.169154511C>A | CA16604061 | LRP2 | c.12244G>T (p.Glu4082Ter) c.3144G>T c.1272G>T (p.Arg424Ser) c.12115G>T (p.Glu4039Ter) c.9955G>T (p.Glu3319Ter) | ClinVar dbSNP |
2 | g.169154511C= | CA1306305607 | LRP2 | c.12244G= (p.Glu4082=) c.3144G= c.1272G= (p.Arg424=) c.12115G= (p.Glu4039=) c.9955G= (p.Glu3319=) | |
2 | g.169154511C>G | CA349137200 | LRP2 | c.12244G>C (p.Glu4082Gln) c.3144G>C c.1272G>C (p.Arg424Ser) c.12115G>C (p.Glu4039Gln) c.9955G>C (p.Glu3319Gln) | gnomAD v4 |
2 | g.169154511C>T | CA349137205 | LRP2 | c.12244G>A (p.Glu4082Lys) c.3144G>A c.1272G>A (p.Arg424=) c.12115G>A (p.Glu4039Lys) c.9955G>A (p.Glu3319Lys) | dbSNP COSMIC |
2 | g.169154511_169154512insT | CA2661815133 | LRP2 | c.12243_12244insA (p.Glu4082ArgfsTer7) c.3143_3144insA c.1271_1272insA (p.Asn425GlufsTer?) c.12114_12115insA (p.Glu4039ArgfsTer7) c.9954_9955insA (p.Glu3319ArgfsTer7) | gnomAD v4 |
2 | g.169154511_169154512insAA | CA2661815132 | LRP2 | c.12243_12244insTT (p.Glu4082LeufsTer16) c.3143_3144insTT c.1271_1272insTT (p.Arg424SerfsTer2) c.12114_12115insTT (p.Glu4039LeufsTer16) c.9954_9955insTT (p.Glu3319LeufsTer16) | gnomAD v4 |
2 | g.169154512C>A | CA349137207 | LRP2 | c.12243G>T (p.Glu4081Asp) c.3143G>T c.1271G>T (p.Arg424Met) c.12114G>T (p.Glu4038Asp) c.9954G>T (p.Glu3318Asp) | |
2 | g.169154512C= | CA1306305613 | LRP2 | c.12243G= (p.Glu4081=) c.3143G= c.1271G= (p.Arg424=) c.12114G= (p.Glu4038=) c.9954G= (p.Glu3318=) | |
2 | g.169154512C>G | CA349137209 | LRP2 | c.12243G>C (p.Glu4081Asp) c.3143G>C c.1271G>C (p.Arg424Thr) c.12114G>C (p.Glu4038Asp) c.9954G>C (p.Glu3318Asp) | gnomAD v4 |
2 | g.169154512C>T | CA1952857 | LRP2 | c.12243G>A (p.Glu4081=) c.3143G>A c.1271G>A (p.Arg424Lys) c.12114G>A (p.Glu4038=) c.9954G>A (p.Glu3318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154513T>A | CA349137213 | LRP2 | c.12242A>T (p.Glu4081Val) c.3142A>T c.1270A>T (p.Arg424Trp) c.12113A>T (p.Glu4038Val) c.9953A>T (p.Glu3318Val) | |
2 | g.169154513T>C | CA349137215 | LRP2 | c.12242A>G (p.Glu4081Gly) c.3142A>G c.1270A>G (p.Arg424Gly) c.12113A>G (p.Glu4038Gly) c.9953A>G (p.Glu3318Gly) | |
2 | g.169154513T>G | CA349137218 | LRP2 | c.12242A>C (p.Glu4081Ala) c.3142A>C c.1270A>C (p.Arg424=) c.12113A>C (p.Glu4038Ala) c.9953A>C (p.Glu3318Ala) | gnomAD v4 |
2 | g.169154514del | CA2661815134 | LRP2 | c.12241del (p.Glu4081ArgfsTer16) c.3141del c.1269del (p.Met423IlefsTer8) c.12112del (p.Glu4038ArgfsTer16) c.9952del (p.Glu3318ArgfsTer16) | gnomAD v4 |
2 | g.169154514C>A | CA349137222 | LRP2 | c.12241G>T (p.Glu4081Ter) c.3141G>T c.1269G>T (p.Met423Ile) c.12112G>T (p.Glu4038Ter) c.9952G>T (p.Glu3318Ter) | gnomAD v4 COSMIC |
2 | g.169154514C>G | CA349137224 | LRP2 | c.12241G>C (p.Glu4081Gln) c.3141G>C c.1269G>C (p.Met423Ile) c.12112G>C (p.Glu4038Gln) c.9952G>C (p.Glu3318Gln) | |
2 | g.169154514C>T | CA349137221 | LRP2 | c.12241G>A (p.Glu4081Lys) c.3141G>A c.1269G>A (p.Met423Ile) c.12112G>A (p.Glu4038Lys) c.9952G>A (p.Glu3318Lys) | gnomAD v4 |
2 | g.169154515A>C | CA349137230 | LRP2 | c.12240T>G (p.Asp4080Glu) c.3140T>G c.1268T>G (p.Met423Arg) c.12111T>G (p.Asp4037Glu) c.9951T>G (p.Asp3317Glu) | |
2 | g.169154515A>G | CA429922569 | LRP2 | c.12240T>C (p.Asp4080=) c.3140T>C c.1268T>C (p.Met423Thr) c.12111T>C (p.Asp4037=) c.9951T>C (p.Asp3317=) | |
2 | g.169154515A>T | CA349137227 | LRP2 | c.12240T>A (p.Asp4080Glu) c.3140T>A c.1268T>A (p.Met423Lys) c.12111T>A (p.Asp4037Glu) c.9951T>A (p.Asp3317Glu) | |
2 | g.169154516T>A | CA349137236 | LRP2 | c.12239A>T (p.Asp4080Val) c.3139A>T c.1267A>T (p.Met423Leu) c.12110A>T (p.Asp4037Val) c.9950A>T (p.Asp3317Val) | gnomAD v4 |
2 | g.169154516T>C | CA349137233 | LRP2 | c.12239A>G (p.Asp4080Gly) c.3139A>G c.1267A>G (p.Met423Val) c.12110A>G (p.Asp4037Gly) c.9950A>G (p.Asp3317Gly) | |
2 | g.169154516T>G | CA349137237 | LRP2 | c.12239A>C (p.Asp4080Ala) c.3139A>C c.1267A>C (p.Met423Leu) c.12110A>C (p.Asp4037Ala) c.9950A>C (p.Asp3317Ala) | |
2 | g.169154517C>A | CA349137238 | LRP2 | c.12238G>T (p.Asp4080Tyr) c.3138G>T c.1266G>T (p.Lys422Asn) c.12109G>T (p.Asp4037Tyr) c.9949G>T (p.Asp3317Tyr) | dbSNP |
2 | g.169154517C= | CA1306305621 | LRP2 | c.12238G= (p.Asp4080=) c.3138G= c.1266G= (p.Lys422=) c.12109G= (p.Asp4037=) c.9949G= (p.Asp3317=) | |
2 | g.169154517C>G | CA349137241 | LRP2 | c.12238G>C (p.Asp4080His) c.3138G>C c.1266G>C (p.Lys422Asn) c.12109G>C (p.Asp4037His) c.9949G>C (p.Asp3317His) | gnomAD v4 |
2 | g.169154517C>T | CA349137243 | LRP2 | c.12238G>A (p.Asp4080Asn) c.3138G>A c.1266G>A (p.Lys422=) c.12109G>A (p.Asp4037Asn) c.9949G>A (p.Asp3317Asn) | dbSNP |
2 | g.169154518T>A | CA349137245 | LRP2 | c.12237A>T (p.Gln4079His) c.3137A>T c.1265A>T (p.Lys422Met) c.12108A>T (p.Gln4036His) c.9948A>T (p.Gln3316His) | |
2 | g.169154518T>C | CA429922570 | LRP2 | c.12237A>G (p.Gln4079=) c.3137A>G c.1265A>G (p.Lys422Arg) c.12108A>G (p.Gln4036=) c.9948A>G (p.Gln3316=) | |
2 | g.169154518T>G | CA349137247 | LRP2 | c.12237A>C (p.Gln4079His) c.3137A>C c.1265A>C (p.Lys422Thr) c.12108A>C (p.Gln4036His) c.9948A>C (p.Gln3316His) | |
2 | g.169154519T>A | CA349137260 | LRP2 | c.12236A>T (p.Gln4079Leu) c.3136A>T c.1264A>T (p.Lys422Ter) c.12107A>T (p.Gln4036Leu) c.9947A>T (p.Gln3316Leu) | |
2 | g.169154519T>C | CA349137259 | LRP2 | c.12236A>G (p.Gln4079Arg) c.3136A>G c.1264A>G (p.Lys422Glu) c.12107A>G (p.Gln4036Arg) c.9947A>G (p.Gln3316Arg) | |
2 | g.169154519T>G | CA349137256 | LRP2 | c.12236A>C (p.Gln4079Pro) c.3136A>C c.1264A>C (p.Lys422Gln) c.12107A>C (p.Gln4036Pro) c.9947A>C (p.Gln3316Pro) | |
2 | g.169154520G>A | CA349137263 | LRP2 | c.12235C>T (p.Gln4079Ter) c.3135C>T c.1263C>T (p.Phe421=) c.12106C>T (p.Gln4036Ter) c.9946C>T (p.Gln3316Ter) | dbSNP COSMIC |
2 | g.169154520G>C | CA349137265 | LRP2 | c.12235C>G (p.Gln4079Glu) c.3135C>G c.1263C>G (p.Phe421Leu) c.12106C>G (p.Gln4036Glu) c.9946C>G (p.Gln3316Glu) | |
2 | g.169154520G>T | CA349137268 | LRP2 | c.12235C>A (p.Gln4079Lys) c.3135C>A c.1263C>A (p.Phe421Leu) c.12106C>A (p.Gln4036Lys) c.9946C>A (p.Gln3316Lys) | |
2 | g.169154521A>C | CA429922571 | LRP2 | c.12234T>G (p.Leu4078=) c.3134T>G c.1262T>G (p.Phe421Cys) c.12105T>G (p.Leu4035=) c.9945T>G (p.Leu3315=) | |
2 | g.169154521A>G | CA429922572 | LRP2 | c.12234T>C (p.Leu4078=) c.3134T>C c.1262T>C (p.Phe421Ser) c.12105T>C (p.Leu4035=) c.9945T>C (p.Leu3315=) | |
2 | g.169154521A>T | CA429922573 | LRP2 | c.12234T>A (p.Leu4078=) c.3134T>A c.1262T>A (p.Phe421Tyr) c.12105T>A (p.Leu4035=) c.9945T>A (p.Leu3315=) | |
2 | g.169154522A>C | CA349137271 | LRP2 | c.12233T>G (p.Leu4078Arg) c.3133T>G c.1261T>G (p.Phe421Val) c.12104T>G (p.Leu4035Arg) c.9944T>G (p.Leu3315Arg) | |
2 | g.169154522A>G | CA349137273 | LRP2 | c.12233T>C (p.Leu4078Pro) c.3133T>C c.1261T>C (p.Phe421Leu) c.12104T>C (p.Leu4035Pro) c.9944T>C (p.Leu3315Pro) | |
2 | g.169154522A>T | CA349137276 | LRP2 | c.12233T>A (p.Leu4078His) c.3133T>A c.1261T>A (p.Phe421Ile) c.12104T>A (p.Leu4035His) c.9944T>A (p.Leu3315His) | |
2 | g.169154523G>A | CA349137280 | LRP2 | c.12232C>T (p.Leu4078Phe) c.3132C>T c.1260C>T (p.Ile420=) c.12103C>T (p.Leu4035Phe) c.9943C>T (p.Leu3315Phe) | |
2 | g.169154523G>C | CA349137284 | LRP2 | c.12232C>G (p.Leu4078Val) c.3132C>G c.1260C>G (p.Ile420Met) c.12103C>G (p.Leu4035Val) c.9943C>G (p.Leu3315Val) | |
2 | g.169154523G>T | CA349137282 | LRP2 | c.12232C>A (p.Leu4078Ile) c.3132C>A c.1260C>A (p.Ile420=) c.12103C>A (p.Leu4035Ile) c.9943C>A (p.Leu3315Ile) | |
2 | g.169154524A>C | CA349137288 | LRP2 | c.12231T>G (p.Tyr4077Ter) c.3131T>G c.1259T>G (p.Ile420Ser) c.12102T>G (p.Tyr4034Ter) c.9942T>G (p.Tyr3314Ter) | |
2 | g.169154524A>G | CA429922575 | LRP2 | c.12231T>C (p.Tyr4077=) c.3131T>C c.1259T>C (p.Ile420Thr) c.12102T>C (p.Tyr4034=) c.9942T>C (p.Tyr3314=) | |
2 | g.169154524A>T | CA349137291 | LRP2 | c.12231T>A (p.Tyr4077Ter) c.3131T>A c.1259T>A (p.Ile420Asn) c.12102T>A (p.Tyr4034Ter) c.9942T>A (p.Tyr3314Ter) | |
2 | g.169154525T>A | CA349137292 | LRP2 | c.12230A>T (p.Tyr4077Phe) c.3130A>T c.1258A>T (p.Ile420Phe) c.12101A>T (p.Tyr4034Phe) c.9941A>T (p.Tyr3314Phe) | |
2 | g.169154525T>C | CA349137293 | LRP2 | c.12230A>G (p.Tyr4077Cys) c.3130A>G c.1258A>G (p.Ile420Val) c.12101A>G (p.Tyr4034Cys) c.9941A>G (p.Tyr3314Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154525T>G | CA349137296 | LRP2 | c.12230A>C (p.Tyr4077Ser) c.3130A>C c.1258A>C (p.Ile420Leu) c.12101A>C (p.Tyr4034Ser) c.9941A>C (p.Tyr3314Ser) | |
2 | g.169154525T= | CA1306305624 | LRP2 | c.12230A= (p.Tyr4077=) c.3130A= c.1258A= (p.Ile420=) c.12101A= (p.Tyr4034=) c.9941A= (p.Tyr3314=) | |
2 | g.169154526A= | CA1306305627 | LRP2 | c.12229T= (p.Tyr4077=) c.3129T= c.1257T= (p.Ser419=) c.12100T= (p.Tyr4034=) c.9940T= (p.Tyr3314=) | |
2 | g.169154526A>C | CA349137300 | LRP2 | c.12229T>G (p.Tyr4077Asp) c.3129T>G c.1257T>G (p.Ser419Arg) c.12100T>G (p.Tyr4034Asp) c.9940T>G (p.Tyr3314Asp) | |
2 | g.169154526A>G | CA349137302 | LRP2 | c.12229T>C (p.Tyr4077His) c.3129T>C c.1257T>C (p.Ser419=) c.12100T>C (p.Tyr4034His) c.9940T>C (p.Tyr3314His) | |
2 | g.169154526A>T | CA1952858 | LRP2 | c.12229T>A (p.Tyr4077Asn) c.3129T>A c.1257T>A (p.Ser419Arg) c.12100T>A (p.Tyr4034Asn) c.9940T>A (p.Tyr3314Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154527C>A | CA349137306 | LRP2 | c.12228G>T (p.Glu4076Asp) c.3128G>T c.1256G>T (p.Ser419Ile) c.12099G>T (p.Glu4033Asp) c.9939G>T (p.Glu3313Asp) | |
2 | g.169154527C= | CA1306305635 | LRP2 | c.12228G= (p.Glu4076=) c.3128G= c.1256G= (p.Ser419=) c.12099G= (p.Glu4033=) c.9939G= (p.Glu3313=) | |
2 | g.169154527C>G | CA349137307 | LRP2 | c.12228G>C (p.Glu4076Asp) c.3128G>C c.1256G>C (p.Ser419Thr) c.12099G>C (p.Glu4033Asp) c.9939G>C (p.Glu3313Asp) | |
2 | g.169154527C>T | CA59898121 | LRP2 | c.12228G>A (p.Glu4076=) c.3128G>A c.1256G>A (p.Ser419Asn) c.12099G>A (p.Glu4033=) c.9939G>A (p.Glu3313=) | ClinVar dbSNP gnomAD v4 |
2 | g.169154528T>A | CA349137314 | LRP2 | c.12227A>T (p.Glu4076Val) c.3127A>T c.1255A>T (p.Ser419Cys) c.12098A>T (p.Glu4033Val) c.9938A>T (p.Glu3313Val) | |
2 | g.169154528T>C | CA349137312 | LRP2 | c.12227A>G (p.Glu4076Gly) c.3127A>G c.1255A>G (p.Ser419Gly) c.12098A>G (p.Glu4033Gly) c.9938A>G (p.Glu3313Gly) | ClinVar dbSNP |
2 | g.169154528T>G | CA349137310 | LRP2 | c.12227A>C (p.Glu4076Ala) c.3127A>C c.1255A>C (p.Ser419Arg) c.12098A>C (p.Glu4033Ala) c.9938A>C (p.Glu3313Ala) | COSMIC |
2 | g.169154528T= | CA1306305641 | LRP2 | c.12227A= (p.Glu4076=) c.3127A= c.1255A= (p.Ser419=) c.12098A= (p.Glu4033=) c.9938A= (p.Glu3313=) | |
2 | g.169154529C>A | CA349137317 | LRP2 | c.12226G>T (p.Glu4076Ter) c.3126G>T c.1254G>T (p.Gln418His) c.12097G>T (p.Glu4033Ter) c.9937G>T (p.Glu3313Ter) | |
2 | g.169154529C= | CA1306305645 | LRP2 | c.12226G= (p.Glu4076=) c.3126G= c.1254G= (p.Gln418=) c.12097G= (p.Glu4033=) c.9937G= (p.Glu3313=) | |
2 | g.169154529C>G | CA349137319 | LRP2 | c.12226G>C (p.Glu4076Gln) c.3126G>C c.1254G>C (p.Gln418His) c.12097G>C (p.Glu4033Gln) c.9937G>C (p.Glu3313Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154529C>T | CA349137320 | LRP2 | c.12226G>A (p.Glu4076Lys) c.3126G>A c.1254G>A (p.Gln418=) c.12097G>A (p.Glu4033Lys) c.9937G>A (p.Glu3313Lys) | |
2 | g.169154530T>A | CA429922578 | LRP2 | c.12225A>T (p.Ser4075=) c.3125A>T c.1253A>T (p.Gln418Leu) c.12096A>T (p.Ser4032=) c.9936A>T (p.Ser3312=) | |
2 | g.169154530T>C | CA429922580 | LRP2 | c.12225A>G (p.Ser4075=) c.3125A>G c.1253A>G (p.Gln418Arg) c.12096A>G (p.Ser4032=) c.9936A>G (p.Ser3312=) | ClinVar COSMIC |
2 | g.169154530T>G | CA429922579 | LRP2 | c.12225A>C (p.Ser4075=) c.3125A>C c.1253A>C (p.Gln418Pro) c.12096A>C (p.Ser4032=) c.9936A>C (p.Ser3312=) | |
2 | g.169154531G>A | CA349137323 | LRP2 | c.12224C>T (p.Ser4075Leu) c.3124C>T c.1252C>T (p.Gln418Ter) c.12095C>T (p.Ser4032Leu) c.9935C>T (p.Ser3312Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.169154531G>C | CA349137324 | LRP2 | c.12224C>G (p.Ser4075Ter) c.3124C>G c.1252C>G (p.Gln418Glu) c.12095C>G (p.Ser4032Ter) c.9935C>G (p.Ser3312Ter) | |
2 | g.169154531G= | CA1306305647 | LRP2 | c.12224C= (p.Ser4075=) c.3124C= c.1252C= (p.Gln418=) c.12095C= (p.Ser4032=) c.9935C= (p.Ser3312=) | |
2 | g.169154531G>T | CA349137325 | LRP2 | c.12224C>A (p.Ser4075Ter) c.3124C>A c.1252C>A (p.Gln418Lys) c.12095C>A (p.Ser4032Ter) c.9935C>A (p.Ser3312Ter) | |
2 | g.169154533_169154534del | CA2661815135 | LRP2 | c.12223_12224del (p.Ser4075ArgfsTer6) c.3123_3124del c.1251_1252del (p.Gln418GlufsTer?) c.12094_12095del (p.Ser4032ArgfsTer6) c.9934_9935del (p.Ser3312ArgfsTer6) | gnomAD v4 |
2 | g.169154532A>C | CA349137328 | LRP2 | c.12223T>G (p.Ser4075Ala) c.3123T>G c.1251T>G (p.Ser417=) c.12094T>G (p.Ser4032Ala) c.9934T>G (p.Ser3312Ala) | |
2 | g.169154532A>G | CA349137329 | LRP2 | c.12223T>C (p.Ser4075Pro) c.3123T>C c.1251T>C (p.Ser417=) c.12094T>C (p.Ser4032Pro) c.9934T>C (p.Ser3312Pro) | |
2 | g.169154532A>T | CA349137330 | LRP2 | c.12223T>A (p.Ser4075Thr) c.3123T>A c.1251T>A (p.Ser417=) c.12094T>A (p.Ser4032Thr) c.9934T>A (p.Ser3312Thr) | |
2 | g.169154533G>A | CA1952859 | LRP2 | c.12222C>T (p.Phe4074=) c.3122C>T c.1250C>T (p.Ser417Phe) c.12093C>T (p.Phe4031=) c.9933C>T (p.Phe3311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154533G>C | CA349137333 | LRP2 | c.12222C>G (p.Phe4074Leu) c.3122C>G c.1250C>G (p.Ser417Cys) c.12093C>G (p.Phe4031Leu) c.9933C>G (p.Phe3311Leu) | |
2 | g.169154533G= | CA1306305654 | LRP2 | c.12222C= (p.Phe4074=) c.3122C= c.1250C= (p.Ser417=) c.12093C= (p.Phe4031=) c.9933C= (p.Phe3311=) | |
2 | g.169154533G>T | CA349137334 | LRP2 | c.12222C>A (p.Phe4074Leu) c.3122C>A c.1250C>A (p.Ser417Tyr) c.12093C>A (p.Phe4031Leu) c.9933C>A (p.Phe3311Leu) | COSMIC |
2 | g.169154534A>C | CA349137340 | LRP2 | c.12221T>G (p.Phe4074Cys) c.3121T>G c.1249T>G (p.Ser417Ala) c.12092T>G (p.Phe4031Cys) c.9932T>G (p.Phe3311Cys) | |
2 | g.169154534A>G | CA349137338 | LRP2 | c.12221T>C (p.Phe4074Ser) c.3121T>C c.1249T>C (p.Ser417Pro) c.12092T>C (p.Phe4031Ser) c.9932T>C (p.Phe3311Ser) | |
2 | g.169154534A>T | CA349137336 | LRP2 | c.12221T>A (p.Phe4074Tyr) c.3121T>A c.1249T>A (p.Ser417Thr) c.12092T>A (p.Phe4031Tyr) c.9932T>A (p.Phe3311Tyr) | gnomAD v4 |
2 | g.169154535del | CA2661815136 | LRP2 | c.12221del (p.Phe4074SerfsTer23) c.3121del c.1249del (p.Ser417LeufsTer7) c.12092del (p.Phe4031SerfsTer23) c.9932del (p.Phe3311SerfsTer23) | gnomAD v4 |
2 | g.169154535A>C | CA349137341 | LRP2 | c.12220T>G (p.Phe4074Val) c.3120T>G c.1248T>G (p.Gly416=) c.12091T>G (p.Phe4031Val) c.9931T>G (p.Phe3311Val) | |
2 | g.169154535A>G | CA349137343 | LRP2 | c.12220T>C (p.Phe4074Leu) c.3120T>C c.1248T>C (p.Gly416=) c.12091T>C (p.Phe4031Leu) c.9931T>C (p.Phe3311Leu) | |
2 | g.169154535A>T | CA349137344 | LRP2 | c.12220T>A (p.Phe4074Ile) c.3120T>A c.1248T>A (p.Gly416=) c.12091T>A (p.Phe4031Ile) c.9931T>A (p.Phe3311Ile) | |
2 | g.169154536C>A | CA349137346 | LRP2 | c.12219G>T (p.Arg4073Ser) c.3119G>T c.1247G>T (p.Gly416Val) c.12090G>T (p.Arg4030Ser) c.9930G>T (p.Arg3310Ser) | gnomAD v4 |
2 | g.169154536C>G | CA349137347 | LRP2 | c.12219G>C (p.Arg4073Ser) c.3119G>C c.1247G>C (p.Gly416Ala) c.12090G>C (p.Arg4030Ser) c.9930G>C (p.Arg3310Ser) | dbSNP |
2 | g.169154536C>T | CA429922581 | LRP2 | c.12219G>A (p.Arg4073=) c.3119G>A c.1247G>A (p.Gly416Asp) c.12090G>A (p.Arg4030=) c.9930G>A (p.Arg3310=) | |
2 | g.169154537C>A | CA349137349 | LRP2 | c.12218G>T (p.Arg4073Met) c.3118G>T c.1246G>T (p.Gly416Cys) c.12089G>T (p.Arg4030Met) c.9929G>T (p.Arg3310Met) | dbSNP gnomAD v4 |
2 | g.169154537C= | CA1306305659 | LRP2 | c.12218G= (p.Arg4073=) c.3118G= c.1246G= (p.Gly416=) c.12089G= (p.Arg4030=) c.9929G= (p.Arg3310=) | |
2 | g.169154537C>G | CA349137350 | LRP2 | c.12218G>C (p.Arg4073Thr) c.3118G>C c.1246G>C (p.Gly416Arg) c.12089G>C (p.Arg4030Thr) c.9929G>C (p.Arg3310Thr) | |
2 | g.169154537C>T | CA349137352 | LRP2 | c.12218G>A (p.Arg4073Lys) c.3118G>A c.1246G>A (p.Gly416Ser) c.12089G>A (p.Arg4030Lys) c.9929G>A (p.Arg3310Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154538T>A | CA349137354 | LRP2 | c.12217A>T (p.Arg4073Trp) c.3117A>T c.1245A>T (p.Arg415Ser) c.12088A>T (p.Arg4030Trp) c.9928A>T (p.Arg3310Trp) | |
2 | g.169154538T>C | CA349137356 | LRP2 | c.12217A>G (p.Arg4073Gly) c.3117A>G c.1245A>G (p.Arg415=) c.12088A>G (p.Arg4030Gly) c.9928A>G (p.Arg3310Gly) | |
2 | g.169154538T>G | CA429922582 | LRP2 | c.12217A>C (p.Arg4073=) c.3117A>C c.1245A>C (p.Arg415Ser) c.12088A>C (p.Arg4030=) c.9928A>C (p.Arg3310=) | |
2 | g.169154539C>A | CA349137358 | LRP2 | c.12216G>T (p.Glu4072Asp) c.3116G>T c.1244G>T (p.Arg415Ile) c.12087G>T (p.Glu4029Asp) c.9927G>T (p.Glu3309Asp) | |
2 | g.169154539C= | CA1306305662 | LRP2 | c.12216G= (p.Glu4072=) c.3116G= c.1244G= (p.Arg415=) c.12087G= (p.Glu4029=) c.9927G= (p.Glu3309=) | |
2 | g.169154539C>G | CA349137360 | LRP2 | c.12216G>C (p.Glu4072Asp) c.3116G>C c.1244G>C (p.Arg415Thr) c.12087G>C (p.Glu4029Asp) c.9927G>C (p.Glu3309Asp) | |
2 | g.169154539C>T | CA429922583 | LRP2 | c.12216G>A (p.Glu4072=) c.3116G>A c.1244G>A (p.Arg415Lys) c.12087G>A (p.Glu4029=) c.9927G>A (p.Glu3309=) | dbSNP |
2 | g.169154540T>A | CA349137364 | LRP2 | c.12215A>T (p.Glu4072Val) c.3115A>T c.1243A>T (p.Arg415Ter) c.12086A>T (p.Glu4029Val) c.9926A>T (p.Glu3309Val) | |
2 | g.169154540T>C | CA349137363 | LRP2 | c.12215A>G (p.Glu4072Gly) c.3115A>G c.1243A>G (p.Arg415Gly) c.12086A>G (p.Glu4029Gly) c.9926A>G (p.Glu3309Gly) | |
2 | g.169154540T>G | CA349137362 | LRP2 | c.12215A>C (p.Glu4072Ala) c.3115A>C c.1243A>C (p.Arg415=) c.12086A>C (p.Glu4029Ala) c.9926A>C (p.Glu3309Ala) | |
2 | g.169154541C>A | CA349137367 | LRP2 | c.12214G>T (p.Glu4072Ter) c.3114G>T c.1242G>T (p.Leu414=) c.12085G>T (p.Glu4029Ter) c.9925G>T (p.Glu3309Ter) | |
2 | g.169154541C>G | CA349137370 | LRP2 | c.12214G>C (p.Glu4072Gln) c.3114G>C c.1242G>C (p.Leu414=) c.12085G>C (p.Glu4029Gln) c.9925G>C (p.Glu3309Gln) | COSMIC |
2 | g.169154541C>T | CA349137369 | LRP2 | c.12214G>A (p.Glu4072Lys) c.3114G>A c.1242G>A (p.Leu414=) c.12085G>A (p.Glu4029Lys) c.9925G>A (p.Glu3309Lys) | |
2 | g.169154542A>C | CA429922584 | LRP2 | c.12213T>G (p.Ser4071=) c.3113T>G c.1241T>G (p.Leu414Arg) c.12084T>G (p.Ser4028=) c.9924T>G (p.Ser3308=) | |
2 | g.169154542A>G | CA429922585 | LRP2 | c.12213T>C (p.Ser4071=) c.3113T>C c.1241T>C (p.Leu414Pro) c.12084T>C (p.Ser4028=) c.9924T>C (p.Ser3308=) | |
2 | g.169154542A>T | CA429922586 | LRP2 | c.12213T>A (p.Ser4071=) c.3113T>A c.1241T>A (p.Leu414Gln) c.12084T>A (p.Ser4028=) c.9924T>A (p.Ser3308=) | |
2 | g.169154543G>A | CA349137372 | LRP2 | c.12212C>T (p.Ser4071Phe) c.3112C>T c.1240C>T (p.Leu414=) c.12083C>T (p.Ser4028Phe) c.9923C>T (p.Ser3308Phe) | gnomAD v4 |
2 | g.169154543G>C | CA349137374 | LRP2 | c.12212C>G (p.Ser4071Cys) c.3112C>G c.1240C>G (p.Leu414Val) c.12083C>G (p.Ser4028Cys) c.9923C>G (p.Ser3308Cys) | |
2 | g.169154543G>T | CA349137376 | LRP2 | c.12212C>A (p.Ser4071Tyr) c.3112C>A c.1240C>A (p.Leu414Met) c.12083C>A (p.Ser4028Tyr) c.9923C>A (p.Ser3308Tyr) | |
2 | g.169154544A>C | CA349137377 | LRP2 | c.12211T>G (p.Ser4071Ala) c.3111T>G c.1239T>G (p.His413Gln) c.12082T>G (p.Ser4028Ala) c.9922T>G (p.Ser3308Ala) | |
2 | g.169154544A>G | CA349137379 | LRP2 | c.12211T>C (p.Ser4071Pro) c.3111T>C c.1239T>C (p.His413=) c.12082T>C (p.Ser4028Pro) c.9922T>C (p.Ser3308Pro) | |
2 | g.169154544A>T | CA349137381 | LRP2 | c.12211T>A (p.Ser4071Thr) c.3111T>A c.1239T>A (p.His413Gln) c.12082T>A (p.Ser4028Thr) c.9922T>A (p.Ser3308Thr) | |
2 | g.169154545T>A | CA429922589 | LRP2 | c.12210A>T (p.Ser4070=) c.3110A>T c.1238A>T (p.His413Leu) c.12081A>T (p.Ser4027=) c.9921A>T (p.Ser3307=) | |
2 | g.169154545T>C | CA429922588 | LRP2 | c.12210A>G (p.Ser4070=) c.3110A>G c.1238A>G (p.His413Arg) c.12081A>G (p.Ser4027=) c.9921A>G (p.Ser3307=) | ClinVar |
2 | g.169154545T>G | CA429922587 | LRP2 | c.12210A>C (p.Ser4070=) c.3110A>C c.1238A>C (p.His413Pro) c.12081A>C (p.Ser4027=) c.9921A>C (p.Ser3307=) | |
2 | g.169154546G>A | CA349137383 | LRP2 | c.12209C>T (p.Ser4070Leu) c.3109C>T c.1237C>T (p.His413Tyr) c.12080C>T (p.Ser4027Leu) c.9920C>T (p.Ser3307Leu) | dbSNP |
2 | g.169154546G>C | CA349137385 | LRP2 | c.12209C>G (p.Ser4070Ter) c.3109C>G c.1237C>G (p.His413Asp) c.12080C>G (p.Ser4027Ter) c.9920C>G (p.Ser3307Ter) | COSMIC |
2 | g.169154546G= | CA1306305666 | LRP2 | c.12209C= (p.Ser4070=) c.3109C= c.1237C= (p.His413=) c.12080C= (p.Ser4027=) c.9920C= (p.Ser3307=) | |
2 | g.169154546G>T | CA349137387 | LRP2 | c.12209C>A (p.Ser4070Ter) c.3109C>A c.1237C>A (p.His413Asn) c.12080C>A (p.Ser4027Ter) c.9920C>A (p.Ser3307Ter) | |
2 | g.169154547A>C | CA349137389 | LRP2 | c.12208T>G (p.Ser4070Ala) c.3108T>G c.1236T>G (p.Ser412=) c.12079T>G (p.Ser4027Ala) c.9919T>G (p.Ser3307Ala) | |
2 | g.169154547A>G | CA349137390 | LRP2 | c.12208T>C (p.Ser4070Pro) c.3108T>C c.1236T>C (p.Ser412=) c.12079T>C (p.Ser4027Pro) c.9919T>C (p.Ser3307Pro) | |
2 | g.169154547A>T | CA349137393 | LRP2 | c.12208T>A (p.Ser4070Thr) c.3108T>A c.1236T>A (p.Ser412=) c.12079T>A (p.Ser4027Thr) c.9919T>A (p.Ser3307Thr) | |
2 | g.169154548G>A | CA429922590 | LRP2 | c.12207C>T (p.Leu4069=) c.3107C>T c.1235C>T (p.Ser412Phe) c.12078C>T (p.Leu4026=) c.9918C>T (p.Leu3306=) | |
2 | g.169154548G>C | CA429922591 | LRP2 | c.12207C>G (p.Leu4069=) c.3107C>G c.1235C>G (p.Ser412Cys) c.12078C>G (p.Leu4026=) c.9918C>G (p.Leu3306=) | |
2 | g.169154548G>T | CA429922592 | LRP2 | c.12207C>A (p.Leu4069=) c.3107C>A c.1235C>A (p.Ser412Tyr) c.12078C>A (p.Leu4026=) c.9918C>A (p.Leu3306=) | |
2 | g.169154549A>C | CA349137398 | LRP2 | c.12206T>G (p.Leu4069Arg) c.3106T>G c.1234T>G (p.Ser412Ala) c.12077T>G (p.Leu4026Arg) c.9917T>G (p.Leu3306Arg) | |
2 | g.169154549A>G | CA349137394 | LRP2 | c.12206T>C (p.Leu4069Pro) c.3106T>C c.1234T>C (p.Ser412Pro) c.12077T>C (p.Leu4026Pro) c.9917T>C (p.Leu3306Pro) | |
2 | g.169154549A>T | CA349137396 | LRP2 | c.12206T>A (p.Leu4069His) c.3106T>A c.1234T>A (p.Ser412Thr) c.12077T>A (p.Leu4026His) c.9917T>A (p.Leu3306His) | |
2 | g.169154550G>A | CA349137400 | LRP2 | c.12205C>T (p.Leu4069Phe) c.3105C>T c.1233C>T (p.Ile411=) c.12076C>T (p.Leu4026Phe) c.9916C>T (p.Leu3306Phe) | gnomAD v4 |
2 | g.169154550G>C | CA349137401 | LRP2 | c.12205C>G (p.Leu4069Val) c.3105C>G c.1233C>G (p.Ile411Met) c.12076C>G (p.Leu4026Val) c.9916C>G (p.Leu3306Val) | dbSNP gnomAD v4 |
2 | g.169154550G= | CA1306305668 | LRP2 | c.12205C= (p.Leu4069=) c.3105C= c.1233C= (p.Ile411=) c.12076C= (p.Leu4026=) c.9916C= (p.Leu3306=) | |
2 | g.169154550G>T | CA349137403 | LRP2 | c.12205C>A (p.Leu4069Ile) c.3105C>A c.1233C>A (p.Ile411=) c.12076C>A (p.Leu4026Ile) c.9916C>A (p.Leu3306Ile) | |
2 | g.169154551A>C | CA349137405 | LRP2 | c.12204T>G (p.Asn4068Lys) c.3104T>G c.1232T>G (p.Ile411Ser) c.12075T>G (p.Asn4025Lys) c.9915T>G (p.Asn3305Lys) | |
2 | g.169154551A>G | CA429922593 | LRP2 | c.12204T>C (p.Asn4068=) c.3104T>C c.1232T>C (p.Ile411Thr) c.12075T>C (p.Asn4025=) c.9915T>C (p.Asn3305=) | |
2 | g.169154551A>T | CA349137407 | LRP2 | c.12204T>A (p.Asn4068Lys) c.3104T>A c.1232T>A (p.Ile411Asn) c.12075T>A (p.Asn4025Lys) c.9915T>A (p.Asn3305Lys) | |
2 | g.169154552T>A | CA349137408 | LRP2 | c.12203A>T (p.Asn4068Ile) c.3103A>T c.1231A>T (p.Ile411Phe) c.12074A>T (p.Asn4025Ile) c.9914A>T (p.Asn3305Ile) | |
2 | g.169154552T>C | CA349137410 | LRP2 | c.12203A>G (p.Asn4068Ser) c.3103A>G c.1231A>G (p.Ile411Val) c.12074A>G (p.Asn4025Ser) c.9914A>G (p.Asn3305Ser) | |
2 | g.169154552T>G | CA349137412 | LRP2 | c.12203A>C (p.Asn4068Thr) c.3103A>C c.1231A>C (p.Ile411Leu) c.12074A>C (p.Asn4025Thr) c.9914A>C (p.Asn3305Thr) | |
2 | g.169154553T>A | CA349137413 | LRP2 | c.12202A>T (p.Asn4068Tyr) c.3102A>T c.1230A>T (p.Ile410=) c.12073A>T (p.Asn4025Tyr) c.9913A>T (p.Asn3305Tyr) | |
2 | g.169154553T>C | CA349137414 | LRP2 | c.12202A>G (p.Asn4068Asp) c.3102A>G c.1230A>G (p.Ile410Met) c.12073A>G (p.Asn4025Asp) c.9913A>G (p.Asn3305Asp) | gnomAD v4 |
2 | g.169154553T>G | CA349137415 | LRP2 | c.12202A>C (p.Asn4068His) c.3102A>C c.1230A>C (p.Ile410=) c.12073A>C (p.Asn4025His) c.9913A>C (p.Asn3305His) | |
2 | g.169154554A= | CA1306305672 | LRP2 | c.12201T= (p.Tyr4067=) c.3101T= c.1229T= (p.Ile410=) c.12072T= (p.Tyr4024=) c.9912T= (p.Tyr3304=) | |
2 | g.169154554A>C | CA349137418 | LRP2 | c.12201T>G (p.Tyr4067Ter) c.3101T>G c.1229T>G (p.Ile410Arg) c.12072T>G (p.Tyr4024Ter) c.9912T>G (p.Tyr3304Ter) | |
2 | g.169154554A>G | CA429922594 | LRP2 | c.12201T>C (p.Tyr4067=) c.3101T>C c.1229T>C (p.Ile410Thr) c.12072T>C (p.Tyr4024=) c.9912T>C (p.Tyr3304=) | dbSNP |
2 | g.169154554A>T | CA349137416 | LRP2 | c.12201T>A (p.Tyr4067Ter) c.3101T>A c.1229T>A (p.Ile410Lys) c.12072T>A (p.Tyr4024Ter) c.9912T>A (p.Tyr3304Ter) | |
2 | g.169154555T>A | CA349137421 | LRP2 | c.12200A>T (p.Tyr4067Phe) c.3100A>T c.1228A>T (p.Ile410Leu) c.12071A>T (p.Tyr4024Phe) c.9911A>T (p.Tyr3304Phe) | |
2 | g.169154555T>C | CA349137422 | LRP2 | c.12200A>G (p.Tyr4067Cys) c.3100A>G c.1228A>G (p.Ile410Val) c.12071A>G (p.Tyr4024Cys) c.9911A>G (p.Tyr3304Cys) | |
2 | g.169154555T>G | CA349137423 | LRP2 | c.12200A>C (p.Tyr4067Ser) c.3100A>C c.1228A>C (p.Ile410Leu) c.12071A>C (p.Tyr4024Ser) c.9911A>C (p.Tyr3304Ser) | |
2 | g.169154556A>C | CA349137425 | LRP2 | c.12199T>G (p.Tyr4067Asp) c.3099T>G c.1227T>G (p.Asn409Lys) c.12070T>G (p.Tyr4024Asp) c.9910T>G (p.Tyr3304Asp) | |
2 | g.169154556A>G | CA349137427 | LRP2 | c.12199T>C (p.Tyr4067His) c.3099T>C c.1227T>C (p.Asn409=) c.12070T>C (p.Tyr4024His) c.9910T>C (p.Tyr3304His) | |
2 | g.169154556A>T | CA349137428 | LRP2 | c.12199T>A (p.Tyr4067Asn) c.3099T>A c.1227T>A (p.Asn409Lys) c.12070T>A (p.Tyr4024Asn) c.9910T>A (p.Tyr3304Asn) | |
2 | g.169154557T>A | CA349137432 | LRP2 | c.12198A>T (p.Lys4066Asn) c.3098A>T c.1226A>T (p.Asn409Ile) c.12069A>T (p.Lys4023Asn) c.9909A>T (p.Lys3303Asn) | |
2 | g.169154557T>C | CA429922595 | LRP2 | c.12198A>G (p.Lys4066=) c.3098A>G c.1226A>G (p.Asn409Ser) c.12069A>G (p.Lys4023=) c.9909A>G (p.Lys3303=) | ClinVar dbSNP gnomAD v4 |
2 | g.169154557T>G | CA349137430 | LRP2 | c.12198A>C (p.Lys4066Asn) c.3098A>C c.1226A>C (p.Asn409Thr) c.12069A>C (p.Lys4023Asn) c.9909A>C (p.Lys3303Asn) | |
2 | g.169154557T= | CA1306305674 | LRP2 | c.12198A= (p.Lys4066=) c.3098A= c.1226A= (p.Asn409=) c.12069A= (p.Lys4023=) c.9909A= (p.Lys3303=) | |
2 | g.169154558T>A | CA349137434 | LRP2 | c.12197A>T (p.Lys4066Ile) c.3097A>T c.1225A>T (p.Asn409Tyr) c.12068A>T (p.Lys4023Ile) c.9908A>T (p.Lys3303Ile) | |
2 | g.169154558T>C | CA349137435 | LRP2 | c.12197A>G (p.Lys4066Arg) c.3097A>G c.1225A>G (p.Asn409Asp) c.12068A>G (p.Lys4023Arg) c.9908A>G (p.Lys3303Arg) | |
2 | g.169154558T>G | CA349137437 | LRP2 | c.12197A>C (p.Lys4066Thr) c.3097A>C c.1225A>C (p.Asn409His) c.12068A>C (p.Lys4023Thr) c.9908A>C (p.Lys3303Thr) | |
2 | g.169154559T>A | CA349137440 | LRP2 | c.12196A>T (p.Lys4066Ter) c.3096A>T c.1224A>T (p.Glu408Asp) c.12067A>T (p.Lys4023Ter) c.9907A>T (p.Lys3303Ter) | |
2 | g.169154559T>C | CA349137441 | LRP2 | c.12196A>G (p.Lys4066Glu) c.3096A>G c.1224A>G (p.Glu408=) c.12067A>G (p.Lys4023Glu) c.9907A>G (p.Lys3303Glu) | |
2 | g.169154559T>G | CA349137443 | LRP2 | c.12196A>C (p.Lys4066Gln) c.3096A>C c.1224A>C (p.Glu408Asp) c.12067A>C (p.Lys4023Gln) c.9907A>C (p.Lys3303Gln) | |
2 | g.169154560T>A | CA429922596 | LRP2 | c.12195A>T (p.Arg4065=) c.3095A>T c.1223A>T (p.Glu408Val) c.12066A>T (p.Arg4022=) c.9906A>T (p.Arg3302=) | dbSNP |
2 | g.169154560T>C | CA429922597 | LRP2 | c.12195A>G (p.Arg4065=) c.3095A>G c.1223A>G (p.Glu408Gly) c.12066A>G (p.Arg4022=) c.9906A>G (p.Arg3302=) | dbSNP |
2 | g.169154560T>G | CA429922598 | LRP2 | c.12195A>C (p.Arg4065=) c.3095A>C c.1223A>C (p.Glu408Ala) c.12066A>C (p.Arg4022=) c.9906A>C (p.Arg3302=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154560T= | CA1306305677 | LRP2 | c.12195A= (p.Arg4065=) c.3095A= c.1223A= (p.Glu408=) c.12066A= (p.Arg4022=) c.9906A= (p.Arg3302=) | |
2 | g.169154561C>A | CA349137445 | LRP2 | c.12194G>T (p.Arg4065Leu) c.3094G>T c.1222G>T (p.Glu408Ter) c.12065G>T (p.Arg4022Leu) c.9905G>T (p.Arg3302Leu) | |
2 | g.169154561C= | CA1306305680 | LRP2 | c.12194G= (p.Arg4065=) c.3094G= c.1222G= (p.Glu408=) c.12065G= (p.Arg4022=) c.9905G= (p.Arg3302=) | |
2 | g.169154561C>G | CA349137448 | LRP2 | c.12194G>C (p.Arg4065Pro) c.3094G>C c.1222G>C (p.Glu408Gln) c.12065G>C (p.Arg4022Pro) c.9905G>C (p.Arg3302Pro) | |
2 | g.169154561C>T | CA59898142 | LRP2 | c.12194G>A (p.Arg4065Gln) c.3094G>A c.1222G>A (p.Glu408Lys) c.12065G>A (p.Arg4022Gln) c.9905G>A (p.Arg3302Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169154562G>A | CA349137449 | LRP2 | c.12193C>T (p.Arg4065Ter) c.3093C>T c.1221C>T (p.Phe407=) c.12064C>T (p.Arg4022Ter) c.9904C>T (p.Arg3302Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154562G>C | CA349137450 | LRP2 | c.12193C>G (p.Arg4065Gly) c.3093C>G c.1221C>G (p.Phe407Leu) c.12064C>G (p.Arg4022Gly) c.9904C>G (p.Arg3302Gly) | dbSNP |
2 | g.169154562G= | CA1306305687 | LRP2 | c.12193C= (p.Arg4065=) c.3093C= c.1221C= (p.Phe407=) c.12064C= (p.Arg4022=) c.9904C= (p.Arg3302=) | |
2 | g.169154562G>T | CA429922599 | LRP2 | c.12193C>A (p.Arg4065=) c.3093C>A c.1221C>A (p.Phe407Leu) c.12064C>A (p.Arg4022=) c.9904C>A (p.Arg3302=) | ClinVar gnomAD v4 |
2 | g.169154563A>C | CA349137452 | LRP2 | c.12192T>G (p.Ile4064Met) c.3092T>G c.1220T>G (p.Phe407Cys) c.12063T>G (p.Ile4021Met) c.9903T>G (p.Ile3301Met) | |
2 | g.169154563A>G | CA429922600 | LRP2 | c.12192T>C (p.Ile4064=) c.3092T>C c.1220T>C (p.Phe407Ser) c.12063T>C (p.Ile4021=) c.9903T>C (p.Ile3301=) | |
2 | g.169154563A>T | CA429922601 | LRP2 | c.12192T>A (p.Ile4064=) c.3092T>A c.1220T>A (p.Phe407Tyr) c.12063T>A (p.Ile4021=) c.9903T>A (p.Ile3301=) | |
2 | g.169154564A>C | CA349137453 | LRP2 | c.12191T>G (p.Ile4064Ser) c.3091T>G c.1219T>G (p.Phe407Val) c.12062T>G (p.Ile4021Ser) c.9902T>G (p.Ile3301Ser) | |
2 | g.169154564A>G | CA349137454 | LRP2 | c.12191T>C (p.Ile4064Thr) c.3091T>C c.1219T>C (p.Phe407Leu) c.12062T>C (p.Ile4021Thr) c.9902T>C (p.Ile3301Thr) | |
2 | g.169154564A>T | CA349137455 | LRP2 | c.12191T>A (p.Ile4064Asn) c.3091T>A c.1219T>A (p.Phe407Ile) c.12062T>A (p.Ile4021Asn) c.9902T>A (p.Ile3301Asn) | COSMIC |
2 | g.169154565T>A | CA349137457 | LRP2 | c.12190A>T (p.Ile4064Phe) c.3090A>T c.1218A>T (p.Glu406Asp) c.12061A>T (p.Ile4021Phe) c.9901A>T (p.Ile3301Phe) | gnomAD v4 |
2 | g.169154565T>C | CA349137459 | LRP2 | c.12190A>G (p.Ile4064Val) c.3090A>G c.1218A>G (p.Glu406=) c.12061A>G (p.Ile4021Val) c.9901A>G (p.Ile3301Val) | |
2 | g.169154565T>G | CA349137460 | LRP2 | c.12190A>C (p.Ile4064Leu) c.3090A>C c.1218A>C (p.Glu406Asp) c.12061A>C (p.Ile4021Leu) c.9901A>C (p.Ile3301Leu) | |
2 | g.169154566T>A | CA429922602 | LRP2 | c.12189A>T (p.Arg4063=) c.3089A>T c.1217A>T (p.Glu406Val) c.12060A>T (p.Arg4020=) c.9900A>T (p.Arg3300=) | |
2 | g.169154566T>C | CA429922603 | LRP2 | c.12189A>G (p.Arg4063=) c.3089A>G c.1217A>G (p.Glu406Gly) c.12060A>G (p.Arg4020=) c.9900A>G (p.Arg3300=) | ClinVar gnomAD v4 |
2 | g.169154566T>G | CA429922604 | LRP2 | c.12189A>C (p.Arg4063=) c.3089A>C c.1217A>C (p.Glu406Ala) c.12060A>C (p.Arg4020=) c.9900A>C (p.Arg3300=) | |
2 | g.169154567C>A | CA349137461 | LRP2 | c.12188G>T (p.Arg4063Leu) c.3088G>T c.1216G>T (p.Glu406Ter) c.12059G>T (p.Arg4020Leu) c.9899G>T (p.Arg3300Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154567C= | CA1306305691 | LRP2 | c.12188G= (p.Arg4063=) c.3088G= c.1216G= (p.Glu406=) c.12059G= (p.Arg4020=) c.9899G= (p.Arg3300=) | |
2 | g.169154567C>G | CA349137462 | LRP2 | c.12188G>C (p.Arg4063Pro) c.3088G>C c.1216G>C (p.Glu406Gln) c.12059G>C (p.Arg4020Pro) c.9899G>C (p.Arg3300Pro) | |
2 | g.169154567C>T | CA1952860 | LRP2 | c.12188G>A (p.Arg4063Gln) c.3088G>A c.1216G>A (p.Glu406Lys) c.12059G>A (p.Arg4020Gln) c.9899G>A (p.Arg3300Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154568G>A | CA349137464 | LRP2 | c.12187C>T (p.Arg4063Ter) c.3087C>T c.1215C>T (p.Ser405=) c.12058C>T (p.Arg4020Ter) c.9898C>T (p.Arg3300Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.169154568G>C | CA1952861 | LRP2 | c.12187C>G (p.Arg4063Gly) c.3087C>G c.1215C>G (p.Ser405=) c.12058C>G (p.Arg4020Gly) c.9898C>G (p.Arg3300Gly) | dbSNP ExAC gnomAD v2 |
2 | g.169154568G= | CA1306305694 | LRP2 | c.12187C= (p.Arg4063=) c.3087C= c.1215C= (p.Ser405=) c.12058C= (p.Arg4020=) c.9898C= (p.Arg3300=) | |
2 | g.169154568G>T | CA429922606 | LRP2 | c.12187C>A (p.Arg4063=) c.3087C>A c.1215C>A (p.Ser405=) c.12058C>A (p.Arg4020=) c.9898C>A (p.Arg3300=) | |
2 | g.169154569G>A | CA429922607 | LRP2 | c.12186C>T (p.Val4062=) c.3086C>T c.1214C>T (p.Ser405Phe) c.12057C>T (p.Val4019=) c.9897C>T (p.Val3299=) | COSMIC |
2 | g.169154569G>C | CA1952862 | LRP2 | c.12186C>G (p.Val4062=) c.3086C>G c.1214C>G (p.Ser405Cys) c.12057C>G (p.Val4019=) c.9897C>G (p.Val3299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154569G= | CA1306305698 | LRP2 | c.12186C= (p.Val4062=) c.3086C= c.1214C= (p.Ser405=) c.12057C= (p.Val4019=) c.9897C= (p.Val3299=) | |
2 | g.169154569G>T | CA429922608 | LRP2 | c.12186C>A (p.Val4062=) c.3086C>A c.1214C>A (p.Ser405Tyr) c.12057C>A (p.Val4019=) c.9897C>A (p.Val3299=) | |
2 | g.169154570A>C | CA349137468 | LRP2 | c.12185T>G (p.Val4062Gly) c.3085T>G c.1213T>G (p.Ser405Ala) c.12056T>G (p.Val4019Gly) c.9896T>G (p.Val3299Gly) | |
2 | g.169154570A>G | CA349137469 | LRP2 | c.12185T>C (p.Val4062Ala) c.3085T>C c.1213T>C (p.Ser405Pro) c.12056T>C (p.Val4019Ala) c.9896T>C (p.Val3299Ala) | |
2 | g.169154570A>T | CA349137471 | LRP2 | c.12185T>A (p.Val4062Asp) c.3085T>A c.1213T>A (p.Ser405Thr) c.12056T>A (p.Val4019Asp) c.9896T>A (p.Val3299Asp) | |
2 | g.169154571C>A | CA349137474 | LRP2 | c.12184G>T (p.Val4062Phe) c.3084G>T c.1212G>T (p.Met404Ile) c.12055G>T (p.Val4019Phe) c.9895G>T (p.Val3299Phe) | |
2 | g.169154571C>G | CA349137475 | LRP2 | c.12184G>C (p.Val4062Leu) c.3084G>C c.1212G>C (p.Met404Ile) c.12055G>C (p.Val4019Leu) c.9895G>C (p.Val3299Leu) | |
2 | g.169154571C>T | CA349137477 | LRP2 | c.12184G>A (p.Val4062Ile) c.3084G>A c.1212G>A (p.Met404Ile) c.12055G>A (p.Val4019Ile) c.9895G>A (p.Val3299Ile) | |
2 | g.169154572A= | CA1306305702 | LRP2 | c.12183T= (p.Asn4061=) c.3083T= c.1211T= (p.Met404=) c.12054T= (p.Asn4018=) c.9894T= (p.Asn3298=) | |
2 | g.169154572A>C | CA349137479 | LRP2 | c.12183T>G (p.Asn4061Lys) c.3083T>G c.1211T>G (p.Met404Arg) c.12054T>G (p.Asn4018Lys) c.9894T>G (p.Asn3298Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154572A>G | CA429922609 | LRP2 | c.12183T>C (p.Asn4061=) c.3083T>C c.1211T>C (p.Met404Thr) c.12054T>C (p.Asn4018=) c.9894T>C (p.Asn3298=) | |
2 | g.169154572A>T | CA349137481 | LRP2 | c.12183T>A (p.Asn4061Lys) c.3083T>A c.1211T>A (p.Met404Lys) c.12054T>A (p.Asn4018Lys) c.9894T>A (p.Asn3298Lys) | |
2 | g.169154573T>A | CA349137483 | LRP2 | c.12182A>T (p.Asn4061Ile) c.3082A>T c.1210A>T (p.Met404Leu) c.12053A>T (p.Asn4018Ile) c.9893A>T (p.Asn3298Ile) | |
2 | g.169154573T>C | CA1952863 | LRP2 | c.12182A>G (p.Asn4061Ser) c.3082A>G c.1210A>G (p.Met404Val) c.12053A>G (p.Asn4018Ser) c.9893A>G (p.Asn3298Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154573T>G | CA349137486 | LRP2 | c.12182A>C (p.Asn4061Thr) c.3082A>C c.1210A>C (p.Met404Leu) c.12053A>C (p.Asn4018Thr) c.9893A>C (p.Asn3298Thr) | |
2 | g.169154573T= | CA1306305706 | LRP2 | c.12182A= (p.Asn4061=) c.3082A= c.1210A= (p.Met404=) c.12053A= (p.Asn4018=) c.9893A= (p.Asn3298=) | |
2 | g.169154574T>A | CA349137488 | LRP2 | c.12181A>T (p.Asn4061Tyr) c.3081A>T c.1209A>T (p.Thr403=) c.12052A>T (p.Asn4018Tyr) c.9892A>T (p.Asn3298Tyr) | |
2 | g.169154574T>C | CA349137490 | LRP2 | c.12181A>G (p.Asn4061Asp) c.3081A>G c.1209A>G (p.Thr403=) c.12052A>G (p.Asn4018Asp) c.9892A>G (p.Asn3298Asp) | |
2 | g.169154574T>G | CA349137491 | LRP2 | c.12181A>C (p.Asn4061His) c.3081A>C c.1209A>C (p.Thr403=) c.12052A>C (p.Asn4018His) c.9892A>C (p.Asn3298His) | |
2 | g.169154575G>A | CA429922610 | LRP2 | c.12180C>T (p.Asp4060=) c.3080C>T c.1208C>T (p.Thr403Ile) c.12051C>T (p.Asp4017=) c.9891C>T (p.Asp3297=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154575G>C | CA349137495 | LRP2 | c.12180C>G (p.Asp4060Glu) c.3080C>G c.1208C>G (p.Thr403Arg) c.12051C>G (p.Asp4017Glu) c.9891C>G (p.Asp3297Glu) | |
2 | g.169154575G= | CA1306305708 | LRP2 | c.12180C= (p.Asp4060=) c.3080C= c.1208C= (p.Thr403=) c.12051C= (p.Asp4017=) c.9891C= (p.Asp3297=) | |
2 | g.169154575G>T | CA349137493 | LRP2 | c.12180C>A (p.Asp4060Glu) c.3080C>A c.1208C>A (p.Thr403Lys) c.12051C>A (p.Asp4017Glu) c.9891C>A (p.Asp3297Glu) | |
2 | g.169154576T>A | CA349137497 | LRP2 | c.12179A>T (p.Asp4060Val) c.3079A>T c.1207A>T (p.Thr403Ser) c.12050A>T (p.Asp4017Val) c.9890A>T (p.Asp3297Val) | |
2 | g.169154576T>C | CA349137499 | LRP2 | c.12179A>G (p.Asp4060Gly) c.3079A>G c.1207A>G (p.Thr403Ala) c.12050A>G (p.Asp4017Gly) c.9890A>G (p.Asp3297Gly) | |
2 | g.169154576T>G | CA349137500 | LRP2 | c.12179A>C (p.Asp4060Ala) c.3079A>C c.1207A>C (p.Thr403Pro) c.12050A>C (p.Asp4017Ala) c.9890A>C (p.Asp3297Ala) | |
2 | g.169154577C>A | CA349137502 | LRP2 | c.12178G>T (p.Asp4060Tyr) c.3078G>T c.1206G>T (p.Leu402=) c.12049G>T (p.Asp4017Tyr) c.9889G>T (p.Asp3297Tyr) | |
2 | g.169154577C>G | CA349137503 | LRP2 | c.12178G>C (p.Asp4060His) c.3078G>C c.1206G>C (p.Leu402=) c.12049G>C (p.Asp4017His) c.9889G>C (p.Asp3297His) | |
2 | g.169154577C>T | CA349137505 | LRP2 | c.12178G>A (p.Asp4060Asn) c.3078G>A c.1206G>A (p.Leu402=) c.12049G>A (p.Asp4017Asn) c.9889G>A (p.Asp3297Asn) | |
2 | g.169154578A>C | CA429922611 | LRP2 | c.12177T>G (p.Pro4059=) c.3077T>G c.1205T>G (p.Leu402Arg) c.12048T>G (p.Pro4016=) c.9888T>G (p.Pro3296=) | ClinVar |
2 | g.169154578A>G | CA429922613 | LRP2 | c.12177T>C (p.Pro4059=) c.3077T>C c.1205T>C (p.Leu402Pro) c.12048T>C (p.Pro4016=) c.9888T>C (p.Pro3296=) | |
2 | g.169154578A>T | CA429922612 | LRP2 | c.12177T>A (p.Pro4059=) c.3077T>A c.1205T>A (p.Leu402Gln) c.12048T>A (p.Pro4016=) c.9888T>A (p.Pro3296=) | |
2 | g.169154579G>A | CA349137510 | LRP2 | c.12176C>T (p.Pro4059Leu) c.3076C>T c.1204C>T (p.Leu402=) c.12047C>T (p.Pro4016Leu) c.9887C>T (p.Pro3296Leu) | gnomAD v4 COSMIC |
2 | g.169154579G>C | CA349137509 | LRP2 | c.12176C>G (p.Pro4059Arg) c.3076C>G c.1204C>G (p.Leu402Val) c.12047C>G (p.Pro4016Arg) c.9887C>G (p.Pro3296Arg) | |
2 | g.169154579G>T | CA349137507 | LRP2 | c.12176C>A (p.Pro4059His) c.3076C>A c.1204C>A (p.Leu402Met) c.12047C>A (p.Pro4016His) c.9887C>A (p.Pro3296His) | |
2 | g.169154580G>A | CA349137513 | LRP2 | c.12175C>T (p.Pro4059Ser) c.3075C>T c.1203C>T (p.Cys401=) c.12046C>T (p.Pro4016Ser) c.9886C>T (p.Pro3296Ser) | dbSNP |
2 | g.169154580G>C | CA349137514 | LRP2 | c.12175C>G (p.Pro4059Ala) c.3075C>G c.1203C>G (p.Cys401Trp) c.12046C>G (p.Pro4016Ala) c.9886C>G (p.Pro3296Ala) | |
2 | g.169154580G= | CA1306305710 | LRP2 | c.12175C= (p.Pro4059=) c.3075C= c.1203C= (p.Cys401=) c.12046C= (p.Pro4016=) c.9886C= (p.Pro3296=) | |
2 | g.169154580G>T | CA349137516 | LRP2 | c.12175C>A (p.Pro4059Thr) c.3075C>A c.1203C>A (p.Cys401Ter) c.12046C>A (p.Pro4016Thr) c.9886C>A (p.Pro3296Thr) | |
2 | g.169154581C>A | CA429922614 | LRP2 | c.12174G>T (p.Leu4058=) c.3074G>T c.1202G>T (p.Cys401Phe) c.12045G>T (p.Leu4015=) c.9885G>T (p.Leu3295=) | |
2 | g.169154581C>G | CA429922615 | LRP2 | c.12174G>C (p.Leu4058=) c.3074G>C c.1202G>C (p.Cys401Ser) c.12045G>C (p.Leu4015=) c.9885G>C (p.Leu3295=) | |
2 | g.169154581C>T | CA429922616 | LRP2 | c.12174G>A (p.Leu4058=) c.3074G>A c.1202G>A (p.Cys401Tyr) c.12045G>A (p.Leu4015=) c.9885G>A (p.Leu3295=) | gnomAD v4 |
2 | g.169154582A>C | CA349137518 | LRP2 | c.12173T>G (p.Leu4058Arg) c.3073T>G c.1201T>G (p.Cys401Gly) c.12044T>G (p.Leu4015Arg) c.9884T>G (p.Leu3295Arg) | |
2 | g.169154582A>G | CA349137520 | LRP2 | c.12173T>C (p.Leu4058Pro) c.3073T>C c.1201T>C (p.Cys401Arg) c.12044T>C (p.Leu4015Pro) c.9884T>C (p.Leu3295Pro) | |
2 | g.169154582A>T | CA349137521 | LRP2 | c.12173T>A (p.Leu4058Gln) c.3073T>A c.1201T>A (p.Cys401Ser) c.12044T>A (p.Leu4015Gln) c.9884T>A (p.Leu3295Gln) | |
2 | g.169154583G>A | CA1952864 | LRP2 | c.12172C>T (p.Leu4058=) c.3072C>T c.1200C>T (p.Tyr400=) c.12043C>T (p.Leu4015=) c.9883C>T (p.Leu3295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154583G>C | CA349137524 | LRP2 | c.12172C>G (p.Leu4058Val) c.3072C>G c.1200C>G (p.Tyr400Ter) c.12043C>G (p.Leu4015Val) c.9883C>G (p.Leu3295Val) | |
2 | g.169154583G= | CA1306305715 | LRP2 | c.12172C= (p.Leu4058=) c.3072C= c.1200C= (p.Tyr400=) c.12043C= (p.Leu4015=) c.9883C= (p.Leu3295=) | |
2 | g.169154583G>T | CA349137523 | LRP2 | c.12172C>A (p.Leu4058Met) c.3072C>A c.1200C>A (p.Tyr400Ter) c.12043C>A (p.Leu4015Met) c.9883C>A (p.Leu3295Met) | |
2 | g.169154584T>A | CA429922617 | LRP2 | c.12171A>T (p.Leu4057=) c.3071A>T c.1199A>T (p.Tyr400Phe) c.12042A>T (p.Leu4014=) c.9882A>T (p.Leu3294=) | |
2 | g.169154584T>C | CA429922618 | LRP2 | c.12171A>G (p.Leu4057=) c.3071A>G c.1199A>G (p.Tyr400Cys) c.12042A>G (p.Leu4014=) c.9882A>G (p.Leu3294=) | gnomAD v4 |
2 | g.169154584T>G | CA429922619 | LRP2 | c.12171A>C (p.Leu4057=) c.3071A>C c.1199A>C (p.Tyr400Ser) c.12042A>C (p.Leu4014=) c.9882A>C (p.Leu3294=) | |
2 | g.169154585A>C | CA349137526 | LRP2 | c.12170T>G (p.Leu4057Arg) c.3070T>G c.1198T>G (p.Tyr400Asp) c.12041T>G (p.Leu4014Arg) c.9881T>G (p.Leu3294Arg) | |
2 | g.169154585A>G | CA349137529 | LRP2 | c.12170T>C (p.Leu4057Pro) c.3070T>C c.1198T>C (p.Tyr400His) c.12041T>C (p.Leu4014Pro) c.9881T>C (p.Leu3294Pro) | |
2 | g.169154585A>T | CA349137530 | LRP2 | c.12170T>A (p.Leu4057Gln) c.3070T>A c.1198T>A (p.Tyr400Asn) c.12041T>A (p.Leu4014Gln) c.9881T>A (p.Leu3294Gln) | |
2 | g.169154586G>A | CA429922623 | LRP2 | c.12169C>T (p.Leu4057=) c.3069C>T c.1197C>T (p.Cys399=) c.12040C>T (p.Leu4014=) c.9880C>T (p.Leu3294=) | |
2 | g.169154586G>C | CA349137531 | LRP2 | c.12169C>G (p.Leu4057Val) c.3069C>G c.1197C>G (p.Cys399Trp) c.12040C>G (p.Leu4014Val) c.9880C>G (p.Leu3294Val) | |
2 | g.169154586G>T | CA349137533 | LRP2 | c.12169C>A (p.Leu4057Ile) c.3069C>A c.1197C>A (p.Cys399Ter) c.12040C>A (p.Leu4014Ile) c.9880C>A (p.Leu3294Ile) | |
2 | g.169154587C>A | CA349137534 | LRP2 | c.12168G>T (p.Leu4056Phe) c.3068G>T c.1196G>T (p.Cys399Phe) c.12039G>T (p.Leu4013Phe) c.9879G>T (p.Leu3293Phe) | |
2 | g.169154587C>G | CA349137535 | LRP2 | c.12168G>C (p.Leu4056Phe) c.3068G>C c.1196G>C (p.Cys399Ser) c.12039G>C (p.Leu4013Phe) c.9879G>C (p.Leu3293Phe) | COSMIC |
2 | g.169154587C>T | CA429922624 | LRP2 | c.12168G>A (p.Leu4056=) c.3068G>A c.1196G>A (p.Cys399Tyr) c.12039G>A (p.Leu4013=) c.9879G>A (p.Leu3293=) | |
2 | g.169154588A>C | CA349137537 | LRP2 | c.12167T>G (p.Leu4056Trp) c.3067T>G c.1195T>G (p.Cys399Gly) c.12038T>G (p.Leu4013Trp) c.9878T>G (p.Leu3293Trp) | |
2 | g.169154588A>G | CA349137540 | LRP2 | c.12167T>C (p.Leu4056Ser) c.3067T>C c.1195T>C (p.Cys399Arg) c.12038T>C (p.Leu4013Ser) c.9878T>C (p.Leu3293Ser) | gnomAD v4 |
2 | g.169154588A>T | CA349137538 | LRP2 | c.12167T>A (p.Leu4056Ter) c.3067T>A c.1195T>A (p.Cys399Ser) c.12038T>A (p.Leu4013Ter) c.9878T>A (p.Leu3293Ter) | |
2 | g.169154589A= | CA1306305718 | LRP2 | c.12166T= (p.Leu4056=) c.3066T= c.1194T= (p.Cys398=) c.12037T= (p.Leu4013=) c.9877T= (p.Leu3293=) | |
2 | g.169154589A>C | CA349137543 | LRP2 | c.12166T>G (p.Leu4056Val) c.3066T>G c.1194T>G (p.Cys398Trp) c.12037T>G (p.Leu4013Val) c.9877T>G (p.Leu3293Val) | |
2 | g.169154589A>G | CA59898168 | LRP2 | c.12166T>C (p.Leu4056=) c.3066T>C c.1194T>C (p.Cys398=) c.12037T>C (p.Leu4013=) c.9877T>C (p.Leu3293=) | dbSNP gnomAD v4 |
2 | g.169154589A>T | CA349137544 | LRP2 | c.12166T>A (p.Leu4056Met) c.3066T>A c.1194T>A (p.Cys398Ter) c.12037T>A (p.Leu4013Met) c.9877T>A (p.Leu3293Met) | |
2 | g.169154590C>A | CA349137546 | LRP2 | c.12165G>T (p.Leu4055Phe) c.3065G>T c.1193G>T (p.Cys398Phe) c.12036G>T (p.Leu4012Phe) c.9876G>T (p.Leu3292Phe) | |
2 | g.169154590C= | CA1306305724 | LRP2 | c.12165G= (p.Leu4055=) c.3065G= c.1193G= (p.Cys398=) c.12036G= (p.Leu4012=) c.9876G= (p.Leu3292=) | |
2 | g.169154590C>G | CA1952865 | LRP2 | c.12165G>C (p.Leu4055Phe) c.3065G>C c.1193G>C (p.Cys398Ser) c.12036G>C (p.Leu4012Phe) c.9876G>C (p.Leu3292Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154590C>T | CA429922629 | LRP2 | c.12165G>A (p.Leu4055=) c.3065G>A c.1193G>A (p.Cys398Tyr) c.12036G>A (p.Leu4012=) c.9876G>A (p.Leu3292=) | |
2 | g.169154591A>C | CA349137550 | LRP2 | c.12164T>G (p.Leu4055Trp) c.3064T>G c.1192T>G (p.Cys398Gly) c.12035T>G (p.Leu4012Trp) c.9875T>G (p.Leu3292Trp) | |
2 | g.169154591A>G | CA349137553 | LRP2 | c.12164T>C (p.Leu4055Ser) c.3064T>C c.1192T>C (p.Cys398Arg) c.12035T>C (p.Leu4012Ser) c.9875T>C (p.Leu3292Ser) | |
2 | g.169154591A>T | CA349137552 | LRP2 | c.12164T>A (p.Leu4055Ter) c.3064T>A c.1192T>A (p.Cys398Ser) c.12035T>A (p.Leu4012Ter) c.9875T>A (p.Leu3292Ter) | |
2 | g.169154592A>C | CA349137555 | LRP2 | c.12163T>G (p.Leu4055Val) c.3063T>G c.1191T>G (p.Leu397=) c.12034T>G (p.Leu4012Val) c.9874T>G (p.Leu3292Val) | gnomAD v4 |
2 | g.169154592A>G | CA429922631 | LRP2 | c.12163T>C (p.Leu4055=) c.3063T>C c.1191T>C (p.Leu397=) c.12034T>C (p.Leu4012=) c.9874T>C (p.Leu3292=) | |
2 | g.169154592A>T | CA349137557 | LRP2 | c.12163T>A (p.Leu4055Met) c.3063T>A c.1191T>A (p.Leu397=) c.12034T>A (p.Leu4012Met) c.9874T>A (p.Leu3292Met) | gnomAD v3 gnomAD v4 |
2 | g.169154593A= | CA1306305728 | LRP2 | c.12162T= (p.Pro4054=) c.3062T= c.1190T= (p.Leu397=) c.12033T= (p.Pro4011=) c.9873T= (p.Pro3291=) | |
2 | g.169154593A>C | CA429922632 | LRP2 | c.12162T>G (p.Pro4054=) c.3062T>G c.1190T>G (p.Leu397Arg) c.12033T>G (p.Pro4011=) c.9873T>G (p.Pro3291=) | |
2 | g.169154593A>G | CA429922633 | LRP2 | c.12162T>C (p.Pro4054=) c.3062T>C c.1190T>C (p.Leu397Pro) c.12033T>C (p.Pro4011=) c.9873T>C (p.Pro3291=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154593A>T | CA429922634 | LRP2 | c.12162T>A (p.Pro4054=) c.3062T>A c.1190T>A (p.Leu397His) c.12033T>A (p.Pro4011=) c.9873T>A (p.Pro3291=) | |
2 | g.169154594G>A | CA349137559 | LRP2 | c.12161C>T (p.Pro4054Leu) c.3061C>T c.1189C>T (p.Leu397Phe) c.12032C>T (p.Pro4011Leu) c.9872C>T (p.Pro3291Leu) | dbSNP gnomAD v2 |
2 | g.169154594G>C | CA349137561 | LRP2 | c.12161C>G (p.Pro4054Arg) c.3061C>G c.1189C>G (p.Leu397Val) c.12032C>G (p.Pro4011Arg) c.9872C>G (p.Pro3291Arg) | |
2 | g.169154594G= | CA1306305732 | LRP2 | c.12161C= (p.Pro4054=) c.3061C= c.1189C= (p.Leu397=) c.12032C= (p.Pro4011=) c.9872C= (p.Pro3291=) | |
2 | g.169154594G>T | CA349137562 | LRP2 | c.12161C>A (p.Pro4054His) c.3061C>A c.1189C>A (p.Leu397Ile) c.12032C>A (p.Pro4011His) c.9872C>A (p.Pro3291His) | |
2 | g.169154595G>A | CA349137564 | LRP2 | c.12160C>T (p.Pro4054Ser) c.3060C>T c.1188C>T (p.Leu396=) c.12031C>T (p.Pro4011Ser) c.9871C>T (p.Pro3291Ser) | gnomAD v4 |
2 | g.169154595G>C | CA349137566 | LRP2 | c.12160C>G (p.Pro4054Ala) c.3060C>G c.1188C>G (p.Leu396=) c.12031C>G (p.Pro4011Ala) c.9871C>G (p.Pro3291Ala) | |
2 | g.169154595G>T | CA349137568 | LRP2 | c.12160C>A (p.Pro4054Thr) c.3060C>A c.1188C>A (p.Leu396=) c.12031C>A (p.Pro4011Thr) c.9871C>A (p.Pro3291Thr) | |
2 | g.169154596A>C | CA429922638 | LRP2 | c.12159T>G (p.Ser4053=) c.3059T>G c.1187T>G (p.Leu396Arg) c.12030T>G (p.Ser4010=) c.9870T>G (p.Ser3290=) | |
2 | g.169154596A>G | CA429922639 | LRP2 | c.12159T>C (p.Ser4053=) c.3059T>C c.1187T>C (p.Leu396Pro) c.12030T>C (p.Ser4010=) c.9870T>C (p.Ser3290=) | |
2 | g.169154596A>T | CA429922640 | LRP2 | c.12159T>A (p.Ser4053=) c.3059T>A c.1187T>A (p.Leu396His) c.12030T>A (p.Ser4010=) c.9870T>A (p.Ser3290=) | |
2 | g.169154597G>A | CA349137569 | LRP2 | c.12158C>T (p.Ser4053Phe) c.3058C>T c.1186C>T (p.Leu396Phe) c.12029C>T (p.Ser4010Phe) c.9869C>T (p.Ser3290Phe) | gnomAD v4 COSMIC |
2 | g.169154597G>C | CA349137570 | LRP2 | c.12158C>G (p.Ser4053Cys) c.3058C>G c.1186C>G (p.Leu396Val) c.12029C>G (p.Ser4010Cys) c.9869C>G (p.Ser3290Cys) | |
2 | g.169154597G= | CA1306305734 | LRP2 | c.12158C= (p.Ser4053=) c.3058C= c.1186C= (p.Leu396=) c.12029C= (p.Ser4010=) c.9869C= (p.Ser3290=) | |
2 | g.169154597G>T | CA349137572 | LRP2 | c.12158C>A (p.Ser4053Tyr) c.3058C>A c.1186C>A (p.Leu396Ile) c.12029C>A (p.Ser4010Tyr) c.9869C>A (p.Ser3290Tyr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.169154598A>C | CA349137574 | LRP2 | c.12157T>G (p.Ser4053Ala) c.3057T>G c.1185T>G (p.Ala395=) c.12028T>G (p.Ser4010Ala) c.9868T>G (p.Ser3290Ala) | |
2 | g.169154598A>G | CA349137576 | LRP2 | c.12157T>C (p.Ser4053Pro) c.3057T>C c.1185T>C (p.Ala395=) c.12028T>C (p.Ser4010Pro) c.9868T>C (p.Ser3290Pro) | |
2 | g.169154598A>T | CA349137575 | LRP2 | c.12157T>A (p.Ser4053Thr) c.3057T>A c.1185T>A (p.Ala395=) c.12028T>A (p.Ser4010Thr) c.9868T>A (p.Ser3290Thr) |