ClinVar Miner

List of variants in gene IMPG2 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 721
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=) rs348867 0.80304
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile) rs571391 0.64801
NM_016247.4(IMPG2):c.666+10G>A rs533852 0.39987
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_016247.4(IMPG2):c.1908T>C (p.Asp636=) rs35648234 0.02002
NM_016247.4(IMPG2):c.828+17_828+18insC rs199824990 0.01356
NM_016247.4(IMPG2):c.828+17A>C rs56910465 0.00333
NM_016247.4(IMPG2):c.1544-20A>C rs201831318 0.00313
NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu) rs116450347 0.00272
NM_016247.4(IMPG2):c.1679A>T (p.Tyr560Phe) rs144565223 0.00213
NM_016247.4(IMPG2):c.1893G>A (p.Pro631=) rs149291477 0.00168
NM_016247.4(IMPG2):c.521A>C (p.Glu174Ala) rs146938670 0.00121
NM_016247.4(IMPG2):c.335-13C>T rs201277460 0.00098
NM_016247.4(IMPG2):c.1169G>A (p.Arg390His) rs139255481 0.00072
NM_016247.4(IMPG2):c.392G>A (p.Arg131His) rs147901568 0.00068
NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val) rs142710242 0.00063
NM_016247.4(IMPG2):c.3600A>G (p.Arg1200=) rs139944942 0.00059
NM_016247.4(IMPG2):c.85+9A>T rs200254074 0.00053
NM_016247.4(IMPG2):c.1151A>G (p.Asn384Ser) rs140153716 0.00051
NM_016247.4(IMPG2):c.595A>G (p.Ser199Gly) rs147670488 0.00046
NM_016247.4(IMPG2):c.1140G>A (p.Leu380=) rs192551069 0.00044
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr) rs143635399 0.00041
NM_016247.4(IMPG2):c.32C>A (p.Ser11Tyr) rs137927107 0.00033
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_016247.4(IMPG2):c.2933C>T (p.Ala978Val) rs371611480 0.00025
NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=) rs139496326 0.00025
NM_016247.4(IMPG2):c.1635A>G (p.Ile545Met) rs143241939 0.00024
NM_016247.4(IMPG2):c.3239G>A (p.Arg1080Gln) rs777459431 0.00019
NM_016247.4(IMPG2):c.639G>C (p.Glu213Asp) rs200968743 0.00018
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg) rs201905772 0.00017
NM_016247.4(IMPG2):c.1892C>T (p.Pro631Leu) rs148110369 0.00017
NM_016247.4(IMPG2):c.2258C>T (p.Ser753Leu) rs200818740 0.00016
NM_016247.4(IMPG2):c.2838C>T (p.Phe946=) rs375273157 0.00016
NM_016247.4(IMPG2):c.246T>C (p.Ser82=) rs553966102 0.00015
NM_016247.4(IMPG2):c.2803-14T>G rs376452358 0.00015
NM_016247.4(IMPG2):c.502-4T>C rs371462380 0.00015
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
NM_016247.4(IMPG2):c.913G>A (p.Val305Ile) rs201089959 0.00015
NM_016247.4(IMPG2):c.335-16_335-15del rs756480190 0.00013
NM_016247.4(IMPG2):c.335-20A>C rs770285645 0.00013
NM_016247.4(IMPG2):c.57G>C (p.Leu19=) rs188916371 0.00013
NM_016247.4(IMPG2):c.533+19C>G rs374420758 0.00012
NM_016247.4(IMPG2):c.1705T>C (p.Leu569=) rs375430813 0.00011
NM_016247.4(IMPG2):c.2056G>A (p.Ala686Thr) rs148392938 0.00011
NM_016247.4(IMPG2):c.2638G>A (p.Val880Met) rs182124594 0.00011
NM_016247.4(IMPG2):c.2897A>G (p.Lys966Arg) rs201685456 0.00011
NM_016247.4(IMPG2):c.389G>A (p.Gly130Glu) rs1429319626 0.00011
NM_016247.4(IMPG2):c.123C>G (p.Pro41=) rs183804037 0.00010
NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp) rs138834349 0.00010
NM_016247.4(IMPG2):c.1472C>T (p.Pro491Leu) rs374379401 0.00010
NM_016247.4(IMPG2):c.2145C>T (p.Tyr715=) rs138035398 0.00009
NM_016247.4(IMPG2):c.2831C>T (p.Thr944Met) rs202022113 0.00009
NM_016247.4(IMPG2):c.1728C>G (p.Val576=) rs556074974 0.00008
NM_016247.4(IMPG2):c.1814C>A (p.Ser605Tyr) rs751812689 0.00008
NM_016247.4(IMPG2):c.2118A>G (p.Ile706Met) rs142865500 0.00008
NM_016247.4(IMPG2):c.3423-18A>G rs553047060 0.00008
NM_016247.4(IMPG2):c.3503C>G (p.Ala1168Gly) rs201519517 0.00008
NM_016247.4(IMPG2):c.1543+16T>G rs373417677 0.00007
NM_016247.4(IMPG2):c.2700G>A (p.Val900=) rs200353662 0.00007
NM_016247.4(IMPG2):c.313G>A (p.Val105Met) rs201599949 0.00007
NM_016247.4(IMPG2):c.10T>A (p.Phe4Ile) rs373314092 0.00006
NM_016247.4(IMPG2):c.1224G>A (p.Thr408=) rs113384204 0.00006
NM_016247.4(IMPG2):c.1477G>A (p.Val493Met) rs142452328 0.00006
NM_016247.4(IMPG2):c.1746G>C (p.Val582=) rs150786431 0.00006
NM_016247.4(IMPG2):c.1794C>T (p.Asp598=) rs371805004 0.00006
NM_016247.4(IMPG2):c.1946T>C (p.Leu649Pro) rs146644083 0.00006
NM_016247.4(IMPG2):c.2093C>T (p.Ala698Val) rs767082811 0.00006
NM_016247.4(IMPG2):c.2154C>A (p.Thr718=) rs755250590 0.00006
NM_016247.4(IMPG2):c.2254G>C (p.Glu752Gln) rs144965772 0.00006
NM_016247.4(IMPG2):c.2530C>T (p.Arg844Trp) rs775130893 0.00006
NM_016247.4(IMPG2):c.2614G>A (p.Val872Ile) rs144558979 0.00006
NM_016247.4(IMPG2):c.2819A>G (p.Gln940Arg) rs373286123 0.00006
NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp) rs770293441 0.00006
NM_016247.4(IMPG2):c.3298G>A (p.Val1100Met) rs201105142 0.00006
NM_016247.4(IMPG2):c.3688G>T (p.Ala1230Ser) rs191865207 0.00006
NM_016247.4(IMPG2):c.391C>T (p.Arg131Cys) rs150344327 0.00006
NM_016247.4(IMPG2):c.584-13C>G rs376439668 0.00006
NM_016247.4(IMPG2):c.972C>T (p.Asp324=) rs762052051 0.00006
NM_016247.4(IMPG2):c.165C>T (p.Asp55=) rs145388804 0.00005
NM_016247.4(IMPG2):c.3304A>G (p.Ile1102Val) rs759763352 0.00005
NM_016247.4(IMPG2):c.3546C>T (p.Phe1182=) rs767945502 0.00005
NM_016247.4(IMPG2):c.687T>C (p.Asn229=) rs764552145 0.00005
NM_016247.4(IMPG2):c.1154-3C>T rs369437104 0.00004
NM_016247.4(IMPG2):c.1239+6T>A rs766767916 0.00004
NM_016247.4(IMPG2):c.1240-9T>C rs775187643 0.00004
NM_016247.4(IMPG2):c.1316C>G (p.Ser439Cys) rs752132053 0.00004
NM_016247.4(IMPG2):c.1412G>A (p.Gly471Asp) rs772942479 0.00004
NM_016247.4(IMPG2):c.1795G>A (p.Gly599Ser) rs368525575 0.00004
NM_016247.4(IMPG2):c.1872C>T (p.Ser624=) rs200720833 0.00004
NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu) rs193120038 0.00004
NM_016247.4(IMPG2):c.2579G>A (p.Gly860Asp) rs147205911 0.00004
NM_016247.4(IMPG2):c.2989G>A (p.Ala997Thr) rs149304893 0.00004
NM_016247.4(IMPG2):c.29T>C (p.Ile10Thr) rs758777225 0.00004
NM_016247.4(IMPG2):c.3023-6_3030dup rs754995805 0.00004
NM_016247.4(IMPG2):c.311A>G (p.His104Arg) rs746407472 0.00004
NM_016247.4(IMPG2):c.3288G>A (p.Val1096=) rs190315698 0.00004
NM_016247.4(IMPG2):c.3481C>A (p.Pro1161Thr) rs367651705 0.00004
NM_016247.4(IMPG2):c.3484G>A (p.Val1162Met) rs775111361 0.00004
NM_016247.4(IMPG2):c.3692C>T (p.Ala1231Val) rs377428968 0.00004
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_016247.4(IMPG2):c.629G>A (p.Gly210Asp) rs766509517 0.00004
NM_016247.4(IMPG2):c.707A>G (p.Lys236Arg) rs976503788 0.00004
NM_016247.4(IMPG2):c.1173C>A (p.His391Gln) rs772639885 0.00003
NM_016247.4(IMPG2):c.1418G>C (p.Ser473Thr) rs1388030722 0.00003
NM_016247.4(IMPG2):c.1553A>G (p.Asn518Ser) rs200892260 0.00003
NM_016247.4(IMPG2):c.1828G>T (p.Asp610Tyr) rs764454738 0.00003
NM_016247.4(IMPG2):c.2067C>T (p.Ile689=) rs754267524 0.00003
NM_016247.4(IMPG2):c.2372A>G (p.Glu791Gly) rs752321097 0.00003
NM_016247.4(IMPG2):c.2485G>A (p.Asp829Asn) rs754615164 0.00003
NM_016247.4(IMPG2):c.2492T>C (p.Val831Ala) rs755831515 0.00003
NM_016247.4(IMPG2):c.2520A>G (p.Leu840=) rs369587849 0.00003
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln) rs139105788 0.00003
NM_016247.4(IMPG2):c.279A>G (p.Pro93=) rs748254660 0.00003
NM_016247.4(IMPG2):c.2922C>T (p.Asn974=) rs758769224 0.00003
NM_016247.4(IMPG2):c.309T>C (p.Asn103=) rs780612323 0.00003
NM_016247.4(IMPG2):c.3118C>T (p.Pro1040Ser) rs773291100 0.00003
NM_016247.4(IMPG2):c.3143G>A (p.Arg1048Gln) rs138218456 0.00003
NM_016247.4(IMPG2):c.3263G>A (p.Arg1088Gln) rs531246692 0.00003
NM_016247.4(IMPG2):c.3297C>T (p.Pro1099=) rs775572865 0.00003
NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter) rs764109533 0.00003
NM_016247.4(IMPG2):c.618C>T (p.Asp206=) rs746975626 0.00003
NM_016247.4(IMPG2):c.1018G>A (p.Glu340Lys) rs746366363 0.00002
NM_016247.4(IMPG2):c.1064G>C (p.Arg355Thr) rs372699731 0.00002
NM_016247.4(IMPG2):c.109G>A (p.Glu37Lys) rs1045747660 0.00002
NM_016247.4(IMPG2):c.1188A>G (p.Leu396=) rs542620598 0.00002
NM_016247.4(IMPG2):c.1225C>G (p.Pro409Ala) rs745834185 0.00002
NM_016247.4(IMPG2):c.1227G>A (p.Pro409=) rs371246481 0.00002
NM_016247.4(IMPG2):c.1330G>A (p.Ala444Thr) rs752217431 0.00002
NM_016247.4(IMPG2):c.1469C>T (p.Thr490Ile) rs1352644806 0.00002
NM_016247.4(IMPG2):c.1491C>T (p.Gly497=) rs748694734 0.00002
NM_016247.4(IMPG2):c.1552A>G (p.Asn518Asp) rs369985289 0.00002
NM_016247.4(IMPG2):c.1763A>T (p.Asp588Val) rs746692897 0.00002
NM_016247.4(IMPG2):c.1921C>T (p.Pro641Ser) rs571643570 0.00002
NM_016247.4(IMPG2):c.2070C>T (p.Phe690=) rs367657809 0.00002
NM_016247.4(IMPG2):c.2094G>A (p.Ala698=) rs774027495 0.00002
NM_016247.4(IMPG2):c.2235G>A (p.Glu745=) rs768795511 0.00002
NM_016247.4(IMPG2):c.2769G>A (p.Glu923=) rs1361189699 0.00002
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter) rs267606875 0.00002
NM_016247.4(IMPG2):c.2914C>T (p.Pro972Ser) rs867462601 0.00002
NM_016247.4(IMPG2):c.2949G>A (p.Leu983=) rs767140573 0.00002
NM_016247.4(IMPG2):c.3023-7G>A rs779151755 0.00002
NM_016247.4(IMPG2):c.310C>T (p.His104Tyr) rs756636951 0.00002
NM_016247.4(IMPG2):c.3185T>C (p.Leu1062Ser) rs756822911 0.00002
NM_016247.4(IMPG2):c.3267C>A (p.Gly1089=) rs756049687 0.00002
NM_016247.4(IMPG2):c.3567C>T (p.Asp1189=) rs764568010 0.00002
NM_016247.4(IMPG2):c.501+11C>T rs747494454 0.00002
NM_016247.4(IMPG2):c.667-10A>G rs757602452 0.00002
NM_016247.4(IMPG2):c.667-1G>A rs1334444660 0.00002
NM_016247.4(IMPG2):c.911G>A (p.Gly304Asp) rs749723076 0.00002
NM_016247.4(IMPG2):c.912C>T (p.Gly304=) rs780679713 0.00002
NM_016247.4(IMPG2):c.1131T>G (p.Pro377=) rs890966341 0.00001
NM_016247.4(IMPG2):c.1185T>A (p.Asp395Glu) rs150515738 0.00001
NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser) rs199986912 0.00001
NM_016247.4(IMPG2):c.1230A>T (p.Ser410=) rs752864788 0.00001
NM_016247.4(IMPG2):c.1312A>G (p.Ser438Gly) rs1411222579 0.00001
NM_016247.4(IMPG2):c.1388A>G (p.Lys463Arg) rs538541184 0.00001
NM_016247.4(IMPG2):c.1404G>A (p.Ser468=) rs760482754 0.00001
NM_016247.4(IMPG2):c.1409T>C (p.Met470Thr) rs1307676457 0.00001
NM_016247.4(IMPG2):c.1421C>G (p.Ser474Cys) rs377032263 0.00001
NM_016247.4(IMPG2):c.1434T>C (p.Val478=) rs199989078 0.00001
NM_016247.4(IMPG2):c.1543+5G>C rs375172482 0.00001
NM_016247.4(IMPG2):c.1544-3T>C rs748790915 0.00001
NM_016247.4(IMPG2):c.1669T>C (p.Ser557Pro) rs1706456016 0.00001
NM_016247.4(IMPG2):c.1706T>C (p.Leu569Ser) rs767836827 0.00001
NM_016247.4(IMPG2):c.1721C>T (p.Ser574Phe) rs1434081359 0.00001
NM_016247.4(IMPG2):c.1763A>G (p.Asp588Gly) rs746692897 0.00001
NM_016247.4(IMPG2):c.186G>C (p.Lys62Asn) rs909700875 0.00001
NM_016247.4(IMPG2):c.1923A>G (p.Pro641=) rs550541759 0.00001
NM_016247.4(IMPG2):c.1926T>A (p.Ala642=) rs199724338 0.00001
NM_016247.4(IMPG2):c.1984A>C (p.Ser662Arg) rs772764177 0.00001
NM_016247.4(IMPG2):c.1991A>C (p.His664Pro) rs1411924896 0.00001
NM_016247.4(IMPG2):c.2038del (p.Glu680fs) rs1706448011 0.00001
NM_016247.4(IMPG2):c.2071G>A (p.Ala691Thr) rs147163766 0.00001
NM_016247.4(IMPG2):c.2076T>C (p.Asp692=) rs1345033525 0.00001
NM_016247.4(IMPG2):c.2114A>G (p.His705Arg) rs761348424 0.00001
NM_016247.4(IMPG2):c.2134G>A (p.Val712Ile) rs140592059 0.00001
NM_016247.4(IMPG2):c.2142T>C (p.Asp714=) rs772167609 0.00001
NM_016247.4(IMPG2):c.2146T>C (p.Ser716Pro) rs779190337 0.00001
NM_016247.4(IMPG2):c.2161C>T (p.Pro721Ser) rs374990792 0.00001
NM_016247.4(IMPG2):c.2209G>A (p.Asp737Asn) rs759454561 0.00001
NM_016247.4(IMPG2):c.2222C>A (p.Ala741Asp) rs748245517 0.00001
NM_016247.4(IMPG2):c.2241G>C (p.Met747Ile) rs201394380 0.00001
NM_016247.4(IMPG2):c.2251A>G (p.Thr751Ala) rs371240065 0.00001
NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer) rs771980888 0.00001
NM_016247.4(IMPG2):c.2279A>G (p.Asp760Gly) rs752376755 0.00001
NM_016247.4(IMPG2):c.239G>A (p.Arg80Gln) rs751226839 0.00001
NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala) rs76048775 0.00001
NM_016247.4(IMPG2):c.2453T>G (p.Leu818Trp) rs771179590 0.00001
NM_016247.4(IMPG2):c.2535A>G (p.Ile845Met) rs773949753 0.00001
NM_016247.4(IMPG2):c.253T>C (p.Phe85Leu) rs922302756 0.00001
NM_016247.4(IMPG2):c.2582A>T (p.Lys861Met) rs1249451223 0.00001
NM_016247.4(IMPG2):c.2583G>A (p.Lys861=) rs745597368 0.00001
NM_016247.4(IMPG2):c.2584G>T (p.Val862Phe) rs1355961678 0.00001
NM_016247.4(IMPG2):c.2610A>C (p.Thr870=) rs186821299 0.00001
NM_016247.4(IMPG2):c.2631G>A (p.Met877Ile) rs768016573 0.00001
NM_016247.4(IMPG2):c.2636G>C (p.Ser879Thr) rs774965996 0.00001
NM_016247.4(IMPG2):c.263G>T (p.Gly88Val) rs759521183 0.00001
NM_016247.4(IMPG2):c.2651C>G (p.Thr884Arg) rs1439715357 0.00001
NM_016247.4(IMPG2):c.2678C>T (p.Thr893Ile) rs745542376 0.00001
NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter) rs267606876 0.00001
NM_016247.4(IMPG2):c.2719G>A (p.Val907Met) rs758366596 0.00001
NM_016247.4(IMPG2):c.2721G>A (p.Val907=) rs753791251 0.00001
NM_016247.4(IMPG2):c.2761T>C (p.Ser921Pro) rs1232182280 0.00001
NM_016247.4(IMPG2):c.277C>A (p.Pro93Thr) rs757163692 0.00001
NM_016247.4(IMPG2):c.2800T>C (p.Leu934=) rs764443272 0.00001
NM_016247.4(IMPG2):c.2802+7A>G rs903921999 0.00001
NM_016247.4(IMPG2):c.2847A>G (p.Leu949=) rs371471872 0.00001
NM_016247.4(IMPG2):c.2851A>G (p.Ile951Val) rs1038588264 0.00001
NM_016247.4(IMPG2):c.2875A>G (p.Ile959Val) rs1248045495 0.00001
NM_016247.4(IMPG2):c.2891G>A (p.Arg964Gln) rs887388274 0.00001
NM_016247.4(IMPG2):c.2906A>G (p.Asn969Ser) rs765677740 0.00001
NM_016247.4(IMPG2):c.2923G>A (p.Val975Ile) rs765892957 0.00001
NM_016247.4(IMPG2):c.2934G>A (p.Ala978=) rs1180066099 0.00001
NM_016247.4(IMPG2):c.295G>A (p.Glu99Lys) rs1339875350 0.00001
NM_016247.4(IMPG2):c.3007C>G (p.Leu1003Val) rs1287275265 0.00001
NM_016247.4(IMPG2):c.3032C>G (p.Ala1011Gly) rs780597140 0.00001
NM_016247.4(IMPG2):c.3045G>C (p.Lys1015Asn) rs202156705 0.00001
NM_016247.4(IMPG2):c.3053C>T (p.Ala1018Val) rs1204537397 0.00001
NM_016247.4(IMPG2):c.3080T>C (p.Val1027Ala) rs1328582287 0.00001
NM_016247.4(IMPG2):c.3090G>C (p.Trp1030Cys) rs1706305955 0.00001
NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys) rs781743972 0.00001
NM_016247.4(IMPG2):c.3193G>A (p.Gly1065Arg) rs1488107127 0.00001
NM_016247.4(IMPG2):c.3198G>A (p.Lys1066=) rs751176641 0.00001
NM_016247.4(IMPG2):c.3203A>G (p.Asp1068Gly) rs1251946306 0.00001
NM_016247.4(IMPG2):c.3219C>T (p.His1073=) rs752500181 0.00001
NM_016247.4(IMPG2):c.3220G>A (p.Gly1074Arg) rs372888521 0.00001
NM_016247.4(IMPG2):c.3238C>T (p.Arg1080Trp) rs373381142 0.00001
NM_016247.4(IMPG2):c.3249G>A (p.Glu1083=) rs200847823 0.00001
NM_016247.4(IMPG2):c.3253T>C (p.Trp1085Arg) rs200306665 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.3289T>C (p.Ser1097Pro) rs1473665989 0.00001
NM_016247.4(IMPG2):c.334+15A>G rs2058800966 0.00001
NM_016247.4(IMPG2):c.3355A>G (p.Ile1119Val) rs886057686 0.00001
NM_016247.4(IMPG2):c.3358A>G (p.Ile1120Val) rs1347287232 0.00001
NM_016247.4(IMPG2):c.3417C>G (p.Pro1139=) rs759836540 0.00001
NM_016247.4(IMPG2):c.3423-14T>C rs781051398 0.00001
NM_016247.4(IMPG2):c.3430A>G (p.Ser1144Gly) rs1706263272 0.00001
NM_016247.4(IMPG2):c.3442G>A (p.Asp1148Asn) rs764590260 0.00001
NM_016247.4(IMPG2):c.3472A>T (p.Lys1158Ter) rs1276845142 0.00001
NM_016247.4(IMPG2):c.3521A>G (p.Glu1174Gly) rs1450551237 0.00001
NM_016247.4(IMPG2):c.3581T>C (p.Leu1194Pro) rs776198709 0.00001
NM_016247.4(IMPG2):c.3622C>A (p.Leu1208Ile) rs1706260212 0.00001
NM_016247.4(IMPG2):c.3634-4T>C rs746000492 0.00001
NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter) rs878853357 0.00001
NM_016247.4(IMPG2):c.3703G>C (p.Glu1235Gln) rs750183083 0.00001
NM_016247.4(IMPG2):c.3713+7T>G rs373459877 0.00001
NM_016247.4(IMPG2):c.379C>T (p.Arg127Ter) rs759184240 0.00001
NM_016247.4(IMPG2):c.380G>A (p.Arg127Gln) rs766305807 0.00001
NM_016247.4(IMPG2):c.501+7G>A rs1344296435 0.00001
NM_016247.4(IMPG2):c.501+9C>A rs771446256 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_016247.4(IMPG2):c.525T>C (p.Thr175=) rs766687575 0.00001
NM_016247.4(IMPG2):c.534-9T>G rs1003988438 0.00001
NM_016247.4(IMPG2):c.583+18C>T rs752803606 0.00001
NM_016247.4(IMPG2):c.583+4T>C rs757298720 0.00001
NM_016247.4(IMPG2):c.615G>A (p.Val205=) rs202029719 0.00001
NM_016247.4(IMPG2):c.65G>A (p.Gly22Glu) rs765940937 0.00001
NM_016247.4(IMPG2):c.666+16T>C rs759254824 0.00001
NM_016247.4(IMPG2):c.676G>T (p.Glu226Ter) rs932467788 0.00001
NM_016247.4(IMPG2):c.829-1G>T rs776740276 0.00001
NM_016247.4(IMPG2):c.829G>A (p.Val277Ile) rs771091564 0.00001
NM_016247.4(IMPG2):c.860A>G (p.Tyr287Cys) rs1434734155 0.00001
NM_016247.4(IMPG2):c.871C>T (p.Arg291Cys) rs372789677 0.00001
NM_016247.4(IMPG2):c.872G>A (p.Arg291His) rs755792948 0.00001
NM_016247.4(IMPG2):c.887+10C>T rs767130055 0.00001
NM_016247.4(IMPG2):c.887+13A>T rs761661826 0.00001
NC_000003.11:g.(?_100945813)_(100948454_?)del
NC_000003.11:g.(?_100958882)_(100962584_?)del
NC_000003.11:g.(?_100960886)_(100962721_?)del
NC_000003.11:g.(?_100986335)_(100986395_?)del
NC_000003.11:g.(?_101010303)_(101010374_?)del
NC_000003.12:g.(?_101267511)_(101267531_?)del
NM_016247.4(IMPG2):c.1021C>T (p.Leu341=)
NM_016247.4(IMPG2):c.1048A>G (p.Thr350Ala) rs746577784
NM_016247.4(IMPG2):c.1066G>T (p.Asp356Tyr)
NM_016247.4(IMPG2):c.1071T>A (p.Tyr357Ter)
NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter) rs753747821
NM_016247.4(IMPG2):c.1099T>C (p.Leu367=)
NM_016247.4(IMPG2):c.1100del (p.Leu367fs)
NM_016247.4(IMPG2):c.1100dup (p.Leu367fs) rs1260931426
NM_016247.4(IMPG2):c.1103T>C (p.Leu368Pro)
NM_016247.4(IMPG2):c.1134T>C (p.Asp378=) rs2107234620
NM_016247.4(IMPG2):c.1136C>T (p.Ser379Phe) rs2107234617
NM_016247.4(IMPG2):c.1138C>T (p.Leu380=)
NM_016247.4(IMPG2):c.1149C>T (p.Ile383=)
NM_016247.4(IMPG2):c.1153+1G>A rs2107234582
NM_016247.4(IMPG2):c.1153+1G>C rs2107234582
NM_016247.4(IMPG2):c.1153+6T>G rs1706623613
NM_016247.4(IMPG2):c.1154-13G>C rs2107229992
NM_016247.4(IMPG2):c.1168C>A (p.Arg390Ser) rs531354781
NM_016247.4(IMPG2):c.1168C>G (p.Arg390Gly)
NM_016247.4(IMPG2):c.1168C>T (p.Arg390Cys) rs531354781
NM_016247.4(IMPG2):c.117A>G (p.Gln39=)
NM_016247.4(IMPG2):c.1226C>T (p.Pro409Leu)
NM_016247.4(IMPG2):c.1239+10del rs751135558
NM_016247.4(IMPG2):c.1239+17del
NM_016247.4(IMPG2):c.1239+20G>C
NM_016247.4(IMPG2):c.1239+2T>A rs1706568274
NM_016247.4(IMPG2):c.1239+3A>G
NM_016247.4(IMPG2):c.1239+6T>C
NM_016247.4(IMPG2):c.1240-10T>A rs762465634
NM_016247.4(IMPG2):c.1240-12T>A rs768001995
NM_016247.4(IMPG2):c.1240-1G>A
NM_016247.4(IMPG2):c.1240-1G>C rs2107222436
NM_016247.4(IMPG2):c.1240-3del rs762013280
NM_016247.4(IMPG2):c.1240-6C>G rs1186809984
NM_016247.4(IMPG2):c.1240-9_1240-8insTTTTTTTTT rs557392173
NM_016247.4(IMPG2):c.1240-9del rs557392173
NM_016247.4(IMPG2):c.1240-9dup rs557392173
NM_016247.4(IMPG2):c.1240G>T (p.Asp414Tyr) rs2107222433
NM_016247.4(IMPG2):c.1241ATA[1] (p.Asn415del) rs1706474724
NM_016247.4(IMPG2):c.1250T>C (p.Phe417Ser) rs1226245270
NM_016247.4(IMPG2):c.1256C>A (p.Ala419Asp) rs746968834
NM_016247.4(IMPG2):c.1260A>C (p.Ala420=) rs774252866
NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter) rs1706474422
NM_016247.4(IMPG2):c.1266C>G (p.Pro422=)
NM_016247.4(IMPG2):c.1276_1277insC (p.Glu426fs) rs1706474271
NM_016247.4(IMPG2):c.1286C>G (p.Thr429Ser) rs576207108
NM_016247.4(IMPG2):c.1298C>A (p.Pro433Gln) rs1243396074
NM_016247.4(IMPG2):c.1298CAC[1] (p.Pro434del) rs776953424
NM_016247.4(IMPG2):c.1300C>T (p.Pro434Ser) rs201924170
NM_016247.4(IMPG2):c.131C>G (p.Ala44Gly) rs2107148948
NM_016247.4(IMPG2):c.1321C>T (p.Pro441Ser)
NM_016247.4(IMPG2):c.1323T>A (p.Pro441=)
NM_016247.4(IMPG2):c.1323T>C (p.Pro441=)
NM_016247.4(IMPG2):c.1327T>C (p.Ser443Pro)
NM_016247.4(IMPG2):c.1338C>A (p.Gly446=) rs536259279
NM_016247.4(IMPG2):c.1341G>A (p.Arg447=)
NM_016247.4(IMPG2):c.1342G>A (p.Glu448Lys) rs1576749257
NM_016247.4(IMPG2):c.1350G>A (p.Trp450Ter) rs760477475
NM_016247.4(IMPG2):c.1357A>C (p.Ser453Arg) rs752173755
NM_016247.4(IMPG2):c.141T>C (p.Phe47=)
NM_016247.4(IMPG2):c.1446C>T (p.Ser482=)
NM_016247.4(IMPG2):c.1449C>A (p.Ser483Arg) rs2107222122
NM_016247.4(IMPG2):c.1451T>C (p.Leu484Ser) rs549573282
NM_016247.4(IMPG2):c.1460A>G (p.His487Arg) rs2107222109
NM_016247.4(IMPG2):c.1465G>A (p.Val489Ile) rs1206563742
NM_016247.4(IMPG2):c.1465G>T (p.Val489Phe) rs1206563742
NM_016247.4(IMPG2):c.1469_1470delinsAT (p.Thr490Asn) rs1706470934
NM_016247.4(IMPG2):c.1473G>A (p.Pro491=)
NM_016247.4(IMPG2):c.1473G>T (p.Pro491=) rs371373101
NM_016247.4(IMPG2):c.1483C>T (p.Gln495Ter)
NM_016247.4(IMPG2):c.14C>T (p.Pro5Leu) rs2058805423
NM_016247.4(IMPG2):c.1508A>C (p.Glu503Ala)
NM_016247.4(IMPG2):c.1521T>C (p.Ser507=) rs906816401
NM_016247.4(IMPG2):c.1541A>G (p.Asp514Gly)
NM_016247.4(IMPG2):c.1543+7A>C
NM_016247.4(IMPG2):c.1543G>T (p.Gly515Ter)
NM_016247.4(IMPG2):c.1566A>G (p.Ser522=) rs757015920
NM_016247.4(IMPG2):c.1566AGA[1] (p.Glu523del) rs2107220995
NM_016247.4(IMPG2):c.1576C>T (p.Leu526Phe)
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs) rs1559643320
NM_016247.4(IMPG2):c.1585G>T (p.Asp529Tyr) rs1419691320
NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter) rs1472199114
NM_016247.4(IMPG2):c.1598C>T (p.Ser533Leu)
NM_016247.4(IMPG2):c.159A>G (p.Ser53=)
NM_016247.4(IMPG2):c.1604C>T (p.Ser535Leu) rs773283880
NM_016247.4(IMPG2):c.1609A>G (p.Thr537Ala)
NM_016247.4(IMPG2):c.1609A>T (p.Thr537Ser) rs148472093
NM_016247.4(IMPG2):c.1630A>G (p.Thr544Ala) rs1706456665
NM_016247.4(IMPG2):c.1636C>T (p.Pro546Ser) rs1706456441
NM_016247.4(IMPG2):c.1640C>A (p.Ser547Tyr)
NM_016247.4(IMPG2):c.1641C>T (p.Ser547=) rs940638087
NM_016247.4(IMPG2):c.1658del (p.Val553fs) rs1706456124
NM_016247.4(IMPG2):c.1676C>T (p.Pro559Leu) rs1706455805
NM_016247.4(IMPG2):c.1677A>G (p.Pro559=)
NM_016247.4(IMPG2):c.1678T>C (p.Tyr560His) rs1706455716
NM_016247.4(IMPG2):c.1680T>C (p.Tyr560=)
NM_016247.4(IMPG2):c.1695A>T (p.Ile565=)
NM_016247.4(IMPG2):c.1721C>G (p.Ser574Cys) rs1434081359
NM_016247.4(IMPG2):c.1734C>T (p.Asp578=)
NM_016247.4(IMPG2):c.1735C>T (p.Gln579Ter)
NM_016247.4(IMPG2):c.1737A>G (p.Gln579=)
NM_016247.4(IMPG2):c.1737A>T (p.Gln579His) rs536600165
NM_016247.4(IMPG2):c.1749C>G (p.Ser583Arg) rs2107220737
NM_016247.4(IMPG2):c.1753T>G (p.Phe585Val) rs2107220732
NM_016247.4(IMPG2):c.1759C>A (p.Pro587Thr) rs1706453909
NM_016247.4(IMPG2):c.1764T>C (p.Asp588=) rs2107220706
NM_016247.4(IMPG2):c.1771A>G (p.Met591Val) rs758166689
NM_016247.4(IMPG2):c.1772T>C (p.Met591Thr)
NM_016247.4(IMPG2):c.1782G>A (p.Glu594=)
NM_016247.4(IMPG2):c.1797T>C (p.Gly599=)
NM_016247.4(IMPG2):c.1802T>A (p.Leu601Ter) rs138793555
NM_016247.4(IMPG2):c.1804G>C (p.Gly602Arg) rs1161723935
NM_016247.4(IMPG2):c.1818dup (p.Gln607fs) rs1553681434
NM_016247.4(IMPG2):c.181A>G (p.Lys61Glu) rs2058802218
NM_016247.4(IMPG2):c.1846T>C (p.Trp616Arg) rs1706451710
NM_016247.4(IMPG2):c.1853A>T (p.Glu618Val)
NM_016247.4(IMPG2):c.1858T>C (p.Ser620Pro) rs1706451556
NM_016247.4(IMPG2):c.1860A>G (p.Ser620=)
NM_016247.4(IMPG2):c.1869G>A (p.Lys623=)
NM_016247.4(IMPG2):c.186G>T (p.Lys62Asn) rs909700875
NM_016247.4(IMPG2):c.186_189del (p.Lys62fs) rs2058802159
NM_016247.4(IMPG2):c.1873G>A (p.Ala625Thr)
NM_016247.4(IMPG2):c.1873G>T (p.Ala625Ser) rs373893244
NM_016247.4(IMPG2):c.1879C>T (p.Pro627Ser) rs1706451084
NM_016247.4(IMPG2):c.189dup (p.Gln64fs) rs2058802149
NM_016247.4(IMPG2):c.1906G>A (p.Asp636Asn)
NM_016247.4(IMPG2):c.1908T>G (p.Asp636Glu) rs35648234
NM_016247.4(IMPG2):c.1915C>G (p.Leu639Val) rs758931887
NM_016247.4(IMPG2):c.191A>T (p.Gln64Leu)
NM_016247.4(IMPG2):c.1935A>G (p.Glu645=) rs2107220419
NM_016247.4(IMPG2):c.1955T>G (p.Val652Gly)
NM_016247.4(IMPG2):c.2006A>T (p.His669Leu) rs761529045
NM_016247.4(IMPG2):c.2007T>C (p.His669=) rs1706448655
NM_016247.4(IMPG2):c.2023C>A (p.His675Asn) rs749137446
NM_016247.4(IMPG2):c.2028T>C (p.Phe676=)
NM_016247.4(IMPG2):c.203G>A (p.Arg68His) rs756723730
NM_016247.4(IMPG2):c.2050G>A (p.Gly684Arg)
NM_016247.4(IMPG2):c.2108C>T (p.Pro703Leu) rs954537758
NM_016247.4(IMPG2):c.2112G>A (p.Lys704=)
NM_016247.4(IMPG2):c.2120C>A (p.Ser707Ter)
NM_016247.4(IMPG2):c.2135T>G (p.Val712Gly)
NM_016247.4(IMPG2):c.213T>C (p.Thr71=)
NM_016247.4(IMPG2):c.2140G>A (p.Asp714Asn) rs773118241
NM_016247.4(IMPG2):c.2140G>C (p.Asp714His) rs773118241
NM_016247.4(IMPG2):c.2154C>T (p.Thr718=) rs755250590
NM_016247.4(IMPG2):c.216_217del (p.Arg73fs)
NM_016247.4(IMPG2):c.2177C>G (p.Ser726Cys) rs1706444766
NM_016247.4(IMPG2):c.2185A>G (p.Ile729Val)
NM_016247.4(IMPG2):c.2190T>C (p.Ser730=) rs1428215244
NM_016247.4(IMPG2):c.2195C>T (p.Ser732Phe)
NM_016247.4(IMPG2):c.2206T>A (p.Ser736Thr) rs2107219963
NM_016247.4(IMPG2):c.2212C>G (p.Gln738Glu) rs1706444102
NM_016247.4(IMPG2):c.2220T>G (p.Asp740Glu)
NM_016247.4(IMPG2):c.2221_2222delinsTA (p.Ala741Tyr)
NM_016247.4(IMPG2):c.2225T>C (p.Ile742Thr)
NM_016247.4(IMPG2):c.2232G>A (p.Arg744=)
NM_016247.4(IMPG2):c.2233del (p.Glu745fs) rs1197126131
NM_016247.4(IMPG2):c.2241G>A (p.Met747Ile) rs201394380
NM_016247.4(IMPG2):c.2246A>C (p.Gln749Pro) rs2107219896
NM_016247.4(IMPG2):c.224G>A (p.Trp75Ter) rs1263954282
NM_016247.4(IMPG2):c.2256G>A (p.Glu752=) rs2107219872
NM_016247.4(IMPG2):c.2259A>T (p.Ser753=) rs2107219866
NM_016247.4(IMPG2):c.2264A>G (p.Asn755Ser) rs1706443386
NM_016247.4(IMPG2):c.2267A>G (p.Tyr756Cys) rs560007101
NM_016247.4(IMPG2):c.2269dup (p.Glu757fs) rs746117535
NM_016247.4(IMPG2):c.2285A>G (p.Glu762Gly)
NM_016247.4(IMPG2):c.2289T>A (p.Val763=)
NM_016247.4(IMPG2):c.229A>G (p.Ile77Val)
NM_016247.4(IMPG2):c.2303C>T (p.Pro768Leu) rs1706442125
NM_016247.4(IMPG2):c.2324C>T (p.Thr775Ile) rs770063113
NM_016247.4(IMPG2):c.2327T>C (p.Ile776Thr) rs1443380017
NM_016247.4(IMPG2):c.2378T>C (p.Leu793Ser)
NM_016247.4(IMPG2):c.2384G>A (p.Arg795Lys)
NM_016247.4(IMPG2):c.2389A>G (p.Ile797Val)
NM_016247.4(IMPG2):c.238C>G (p.Arg80Gly) rs756818979
NM_016247.4(IMPG2):c.2392T>C (p.Leu798=) rs2107219653
NM_016247.4(IMPG2):c.2394G>A (p.Leu798=)
NM_016247.4(IMPG2):c.2396C>T (p.Ala799Val)
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer) rs878853358
NM_016247.4(IMPG2):c.2421G>A (p.Arg807=)
NM_016247.4(IMPG2):c.2430A>T (p.Leu810Phe)
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter) rs1706439944
NM_016247.4(IMPG2):c.2450A>C (p.Lys817Thr) rs1188721343
NM_016247.4(IMPG2):c.2458C>A (p.Pro820Thr) rs773849682
NM_016247.4(IMPG2):c.2458C>G (p.Pro820Ala) rs773849682
NM_016247.4(IMPG2):c.2481del (p.Glu828fs)
NM_016247.4(IMPG2):c.2509G>T (p.Asp837Tyr)
NM_016247.4(IMPG2):c.250C>G (p.Leu84Val)
NM_016247.4(IMPG2):c.2516C>T (p.Ser839Leu)
NM_016247.4(IMPG2):c.2524C>A (p.Leu842Met) rs149896250
NM_016247.4(IMPG2):c.2527G>T (p.Asp843Tyr) rs773722848
NM_016247.4(IMPG2):c.2533A>G (p.Ile845Val) rs2107219399
NM_016247.4(IMPG2):c.2538C>T (p.Gly846=) rs2107219391
NM_016247.4(IMPG2):c.2541A>G (p.Thr847=)
NM_016247.4(IMPG2):c.2558A>T (p.Glu853Val)
NM_016247.4(IMPG2):c.255dup (p.Pro86fs) rs2107148760
NM_016247.4(IMPG2):c.2560C>G (p.Gln854Glu) rs1706436727
NM_016247.4(IMPG2):c.2560C>T (p.Gln854Ter)
NM_016247.4(IMPG2):c.2564T>C (p.Val855Ala) rs1706436696
NM_016247.4(IMPG2):c.2595T>C (p.Tyr865=) rs866409532
NM_016247.4(IMPG2):c.2629A>C (p.Met877Leu) rs1271049751
NM_016247.4(IMPG2):c.262G>A (p.Gly88Arg)
NM_016247.4(IMPG2):c.2633T>C (p.Val878Ala)
NM_016247.4(IMPG2):c.2635A>G (p.Ser879Gly) rs1706435437
NM_016247.4(IMPG2):c.263del (p.Gly88fs)
NM_016247.4(IMPG2):c.2652A>C (p.Thr884=) rs775071089
NM_016247.4(IMPG2):c.2657GAG[1] (p.Gly887del) rs1458831852
NM_016247.4(IMPG2):c.2664T>C (p.Asp888=)
NM_016247.4(IMPG2):c.2667C>T (p.Asp889=)
NM_016247.4(IMPG2):c.2668T>A (p.Leu890Met)
NM_016247.4(IMPG2):c.2669T>G (p.Leu890Trp)
NM_016247.4(IMPG2):c.266T>G (p.Val89Gly)
NM_016247.4(IMPG2):c.270A>T (p.Lys90Asn)
NM_016247.4(IMPG2):c.2717G>A (p.Arg906Gln) rs1374540250
NM_016247.4(IMPG2):c.2721G>T (p.Val907=)
NM_016247.4(IMPG2):c.2723C>T (p.Thr908Ile)
NM_016247.4(IMPG2):c.2727C>G (p.Asn909Lys) rs2107219104
NM_016247.4(IMPG2):c.2732T>A (p.Met911Lys)
NM_016247.4(IMPG2):c.2739AGA[1] (p.Glu914del)
NM_016247.4(IMPG2):c.2762_2764del (p.Ser921del) rs1706433288
NM_016247.4(IMPG2):c.2763C>T (p.Ser921=) rs2107219065
NM_016247.4(IMPG2):c.276C>G (p.Cys92Trp) rs913488266
NM_016247.4(IMPG2):c.276C>T (p.Cys92=) rs913488266
NM_016247.4(IMPG2):c.278C>T (p.Pro93Leu) rs2107148718
NM_016247.4(IMPG2):c.2802+14G>A
NM_016247.4(IMPG2):c.2802+4A>G rs1404464988
NM_016247.4(IMPG2):c.2805G>C (p.Leu935=) rs765946370
NM_016247.4(IMPG2):c.2809C>A (p.Pro937Thr)
NM_016247.4(IMPG2):c.2811C>G (p.Pro937=)
NM_016247.4(IMPG2):c.2819A>C (p.Gln940Pro) rs373286123
NM_016247.4(IMPG2):c.2820G>C (p.Gln940His) rs1254425071
NM_016247.4(IMPG2):c.2822C>T (p.Ser941Leu) rs2107218279
NM_016247.4(IMPG2):c.2832G>A (p.Thr944=)
NM_016247.4(IMPG2):c.2832G>C (p.Thr944=)
NM_016247.4(IMPG2):c.2835G>A (p.Gly945=) rs747933808
NM_016247.4(IMPG2):c.2835G>T (p.Gly945=) rs747933808
NM_016247.4(IMPG2):c.2839C>T (p.Gln947Ter)
NM_016247.4(IMPG2):c.283G>C (p.Glu95Gln)
NM_016247.4(IMPG2):c.2858A>G (p.Asn953Ser) rs367769013
NM_016247.4(IMPG2):c.2872A>G (p.Ser958Gly) rs1706425401
NM_016247.4(IMPG2):c.2877T>G (p.Ile959Met)
NM_016247.4(IMPG2):c.2881G>A (p.Val961Met)
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly) rs941586075
NM_016247.4(IMPG2):c.2899T>C (p.Phe967Leu) rs1706424968
NM_016247.4(IMPG2):c.2912T>C (p.Val971Ala)
NM_016247.4(IMPG2):c.2912T>G (p.Val971Gly)
NM_016247.4(IMPG2):c.292G>T (p.Ala98Ser) rs2058801309
NM_016247.4(IMPG2):c.2932_2933delinsAT (p.Ala978Met) rs1706424353
NM_016247.4(IMPG2):c.2937G>A (p.Val979=) rs2107218081
NM_016247.4(IMPG2):c.2941A>C (p.Met981Leu)
NM_016247.4(IMPG2):c.2948T>C (p.Leu983Pro) rs1706424097
NM_016247.4(IMPG2):c.2963C>T (p.Thr988Ile) rs768676452
NM_016247.4(IMPG2):c.2972A>G (p.Tyr991Cys)
NM_016247.4(IMPG2):c.3002A>G (p.Tyr1001Cys)
NM_016247.4(IMPG2):c.3002dup (p.Tyr1001Ter) rs1706423187
NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer) rs1706423076
NM_016247.4(IMPG2):c.3011A>T (p.Asp1004Val) rs1706422827
NM_016247.4(IMPG2):c.3022+3A>G
NM_016247.4(IMPG2):c.3035A>T (p.Asn1012Ile)
NM_016247.4(IMPG2):c.3036C>T (p.Asn1012=)
NM_016247.4(IMPG2):c.3044A>G (p.Lys1015Arg) rs1220285957
NM_016247.4(IMPG2):c.3056G>A (p.Cys1019Tyr) rs2107208112
NM_016247.4(IMPG2):c.3057T>C (p.Cys1019=) rs2107208110
NM_016247.4(IMPG2):c.3059A>G (p.Asn1020Ser)
NM_016247.4(IMPG2):c.3078G>A (p.Leu1026=) rs2107208079
NM_016247.4(IMPG2):c.3093_3097dup (p.Glu1033fs) rs2107208049
NM_016247.4(IMPG2):c.3126C>A (p.Tyr1042Ter)
NM_016247.4(IMPG2):c.3127C>A (p.Leu1043Met) rs774549081
NM_016247.4(IMPG2):c.312T>C (p.His104=)
NM_016247.4(IMPG2):c.3131G>C (p.Ser1044Thr) rs749595871
NM_016247.4(IMPG2):c.3147del (p.Cys1050fs)
NM_016247.4(IMPG2):c.3159_3160del (p.Leu1053_Cys1054insTer) rs2107207948
NM_016247.4(IMPG2):c.3169C>T (p.Gln1057Ter) rs2107207943
NM_016247.4(IMPG2):c.3172C>A (p.Pro1058Thr) rs1176943043
NM_016247.4(IMPG2):c.3172C>G (p.Pro1058Ala) rs1176943043
NM_016247.4(IMPG2):c.3172C>T (p.Pro1058Ser) rs1176943043
NM_016247.4(IMPG2):c.3199T>A (p.Cys1067Ser) rs1706304286
NM_016247.4(IMPG2):c.3204C>T (p.Asp1068=) rs1576743458
NM_016247.4(IMPG2):c.320A>G (p.Tyr107Cys)
NM_016247.4(IMPG2):c.321T>C (p.Tyr107=)
NM_016247.4(IMPG2):c.3229T>A (p.Cys1077Ser)
NM_016247.4(IMPG2):c.3229dup (p.Cys1077fs) rs779626652
NM_016247.4(IMPG2):c.3233+1G>A rs2107207834
NM_016247.4(IMPG2):c.3233+3A>G
NM_016247.4(IMPG2):c.3233+8_3233+45del rs757900087
NM_016247.4(IMPG2):c.3234G>A (p.Arg1078=)
NM_016247.4(IMPG2):c.3236G>A (p.Cys1079Tyr) rs2107205979
NM_016247.4(IMPG2):c.3239G>C (p.Arg1080Pro) rs777459431
NM_016247.4(IMPG2):c.3244G>A (p.Gly1082Ser)
NM_016247.4(IMPG2):c.3272A>C (p.His1091Pro) rs1317837285
NM_016247.4(IMPG2):c.3275G>A (p.Cys1092Tyr) rs1188976081
NM_016247.4(IMPG2):c.3277G>A (p.Glu1093Lys) rs1706281344
NM_016247.4(IMPG2):c.3298G>T (p.Val1100Leu)
NM_016247.4(IMPG2):c.3325G>A (p.Val1109Met)
NM_016247.4(IMPG2):c.3325G>C (p.Val1109Leu)
NM_016247.4(IMPG2):c.3335T>C (p.Leu1112Pro) rs1257918818
NM_016247.4(IMPG2):c.334+11A>G
NM_016247.4(IMPG2):c.334+2T>C
NM_016247.4(IMPG2):c.334+7G>A
NM_016247.4(IMPG2):c.3340G>T (p.Val1114Phe) rs1374678225
NM_016247.4(IMPG2):c.3342C>T (p.Val1114=) rs1200677404
NM_016247.4(IMPG2):c.3343A>T (p.Ile1115Phe) rs1457549119
NM_016247.4(IMPG2):c.335-13C>G rs201277460
NM_016247.4(IMPG2):c.335-14T>A rs2107137167
NM_016247.4(IMPG2):c.335-18C>A rs1707167204
NM_016247.4(IMPG2):c.335-19dup
NM_016247.4(IMPG2):c.3359T>C (p.Ile1120Thr) rs1319265273
NM_016247.4(IMPG2):c.3384A>G (p.Gln1128=)
NM_016247.4(IMPG2):c.3391C>A (p.His1131Asn)
NM_016247.4(IMPG2):c.3392A>G (p.His1131Arg)
NM_016247.4(IMPG2):c.3393T>C (p.His1131=) rs1706278913
NM_016247.4(IMPG2):c.3422+17G>A rs1289877144
NM_016247.4(IMPG2):c.3422+18C>G
NM_016247.4(IMPG2):c.3423-17T>C
NM_016247.4(IMPG2):c.3423-19C>T
NM_016247.4(IMPG2):c.3423-19_3423-18inv
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016247.4(IMPG2):c.3426C>T (p.Gly1142=) rs2107204189
NM_016247.4(IMPG2):c.3429C>T (p.Ser1143=)
NM_016247.4(IMPG2):c.3440C>G (p.Pro1147Arg)
NM_016247.4(IMPG2):c.3448del (p.Leu1150fs) rs2107204142
NM_016247.4(IMPG2):c.3453A>C (p.Ser1151=)
NM_016247.4(IMPG2):c.346G>T (p.Ala116Ser) rs771406795
NM_016247.4(IMPG2):c.3476A>G (p.Tyr1159Cys)
NM_016247.4(IMPG2):c.3479A>G (p.Asn1160Ser)
NM_016247.4(IMPG2):c.3482C>T (p.Pro1161Leu)
NM_016247.4(IMPG2):c.3483C>T (p.Pro1161=)
NM_016247.4(IMPG2):c.349G>C (p.Val117Leu) rs1265939563
NM_016247.4(IMPG2):c.3507A>T (p.Gly1169=)
NM_016247.4(IMPG2):c.3509G>A (p.Cys1170Tyr) rs2107204023
NM_016247.4(IMPG2):c.3511G>A (p.Glu1171Lys)
NM_016247.4(IMPG2):c.3535C>T (p.Gln1179Ter)
NM_016247.4(IMPG2):c.3538C>T (p.His1180Tyr)
NM_016247.4(IMPG2):c.3562G>A (p.Gly1188Arg)
NM_016247.4(IMPG2):c.3570G>A (p.Val1190=) rs1472583604
NM_016247.4(IMPG2):c.3579G>A (p.Gly1193=) rs201595477
NM_016247.4(IMPG2):c.3579G>C (p.Gly1193=)
NM_016247.4(IMPG2):c.3614G>C (p.Ser1205Thr) rs1706260366
NM_016247.4(IMPG2):c.3616A>G (p.Ser1206Gly)
NM_016247.4(IMPG2):c.3633+11_3633+12del rs753088333
NM_016247.4(IMPG2):c.3633+1G>T rs886057685
NM_016247.4(IMPG2):c.3633+6A>G rs2107203848
NM_016247.4(IMPG2):c.3634-8del
NM_016247.4(IMPG2):c.3666G>A (p.Leu1222=) rs2107203102
NM_016247.4(IMPG2):c.3674A>G (p.Asn1225Ser) rs533644399
NM_016247.4(IMPG2):c.3682G>C (p.Glu1228Gln) rs1305022125
NM_016247.4(IMPG2):c.3706CAA[1] (p.Gln1237del) rs759574080
NM_016247.4(IMPG2):c.3712G>C (p.Val1238Leu) rs1706250526
NM_016247.4(IMPG2):c.3713+20C>A
NM_016247.4(IMPG2):c.3713+5G>A rs1706250496
NM_016247.4(IMPG2):c.3714-14T>C
NM_016247.4(IMPG2):c.3714-19C>A
NM_016247.4(IMPG2):c.3714-19C>G rs1451358051
NM_016247.4(IMPG2):c.372T>C (p.Phe124=)
NM_016247.4(IMPG2):c.390G>A (p.Gly130=)
NM_016247.4(IMPG2):c.435C>T (p.Val145=) rs2107137046
NM_016247.4(IMPG2):c.44del (p.Ile14_Leu15insTer)
NM_016247.4(IMPG2):c.486A>T (p.Arg162Ser) rs1707165397
NM_016247.4(IMPG2):c.4A>G (p.Ile2Val) rs2107149531
NM_016247.4(IMPG2):c.501+13A>T
NM_016247.4(IMPG2):c.501+14C>G
NM_016247.4(IMPG2):c.501+1G>A rs1707165087
NM_016247.4(IMPG2):c.501+20A>C
NM_016247.4(IMPG2):c.501+3A>G rs1451982555
NM_016247.4(IMPG2):c.501+3A>T rs1451982555
NM_016247.4(IMPG2):c.501+8T>G
NM_016247.4(IMPG2):c.502-15C>A
NM_016247.4(IMPG2):c.502-15C>T
NM_016247.4(IMPG2):c.502-20T>A rs2107126560
NM_016247.4(IMPG2):c.502-2A>G rs2107126517
NM_016247.4(IMPG2):c.514G>A (p.Ala172Thr)
NM_016247.4(IMPG2):c.52G>A (p.Val18Ile) rs2058805273
NM_016247.4(IMPG2):c.533+11C>G
NM_016247.4(IMPG2):c.533+15T>C
NM_016247.4(IMPG2):c.533+1G>A
NM_016247.4(IMPG2):c.533+7G>A rs2107126429
NM_016247.4(IMPG2):c.533G>A (p.Ser178Asn)
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_016247.4(IMPG2):c.534-14del
NM_016247.4(IMPG2):c.534-15C>T
NM_016247.4(IMPG2):c.568A>T (p.Thr190Ser) rs2107253880
NM_016247.4(IMPG2):c.56T>C (p.Leu19Pro)
NM_016247.4(IMPG2):c.572C>T (p.Ser191Leu)
NM_016247.4(IMPG2):c.573A>G (p.Ser191=)
NM_016247.4(IMPG2):c.577T>C (p.Leu193=)
NM_016247.4(IMPG2):c.583+1G>C rs1360618530
NM_016247.4(IMPG2):c.598G>T (p.Val200Phe)
NM_016247.4(IMPG2):c.619G>T (p.Ala207Ser)
NM_016247.4(IMPG2):c.62_64del (p.Glu21del) rs2058805195
NM_016247.4(IMPG2):c.654G>C (p.Arg218Ser) rs752071608
NM_016247.4(IMPG2):c.654G>T (p.Arg218Ser)
NM_016247.4(IMPG2):c.657A>G (p.Pro219=) rs2107252920
NM_016247.4(IMPG2):c.666+12T>C
NM_016247.4(IMPG2):c.666+15G>C
NM_016247.4(IMPG2):c.666+19T>C rs1190463502
NM_016247.4(IMPG2):c.666+2T>G
NM_016247.4(IMPG2):c.666+4A>T rs2107252899
NM_016247.4(IMPG2):c.666+5G>A rs775105637
NM_016247.4(IMPG2):c.667-13T>C rs1280098282
NM_016247.4(IMPG2):c.667-19T>G
NM_016247.4(IMPG2):c.680T>A (p.Ile227Asn)
NM_016247.4(IMPG2):c.688G>A (p.Val230Met) rs1706812321
NM_016247.4(IMPG2):c.690G>C (p.Val230=) rs1430896824
NM_016247.4(IMPG2):c.699A>T (p.Glu233Asp)
NM_016247.4(IMPG2):c.701C>A (p.Ala234Asp) rs2107251167
NM_016247.4(IMPG2):c.710C>T (p.Pro237Leu) rs1706811998
NM_016247.4(IMPG2):c.718G>A (p.Glu240Lys) rs2107251155
NM_016247.4(IMPG2):c.728C>A (p.Ala243Glu) rs1706811682
NM_016247.4(IMPG2):c.733T>G (p.Phe245Val) rs1706811652
NM_016247.4(IMPG2):c.762C>T (p.Tyr254=) rs2107251067
NM_016247.4(IMPG2):c.766G>A (p.Glu256Lys) rs1706810816
NM_016247.4(IMPG2):c.786C>T (p.Ser262=)
NM_016247.4(IMPG2):c.789C>T (p.Ser263=)
NM_016247.4(IMPG2):c.796C>T (p.His266Tyr)
NM_016247.4(IMPG2):c.803A>G (p.His268Arg) rs2107251030
NM_016247.4(IMPG2):c.814G>T (p.Glu272Ter)
NM_016247.4(IMPG2):c.828+1G>A
NM_016247.4(IMPG2):c.828+20A>C
NM_016247.4(IMPG2):c.828+20del rs746039015
NM_016247.4(IMPG2):c.829-13G>A
NM_016247.4(IMPG2):c.829-1_840del
NM_016247.4(IMPG2):c.829-7T>C rs930371928
NM_016247.4(IMPG2):c.85+11dup
NM_016247.4(IMPG2):c.85+18T>G
NM_016247.4(IMPG2):c.857G>A (p.Gly286Asp) rs1250059859
NM_016247.4(IMPG2):c.86-20A>G
NM_016247.4(IMPG2):c.869T>A (p.Ile290Asn)
NM_016247.4(IMPG2):c.881A>T (p.Glu294Val) rs2107246372
NM_016247.4(IMPG2):c.884T>G (p.Phe295Cys) rs1706755345
NM_016247.4(IMPG2):c.887+11T>G rs1706755132
NM_016247.4(IMPG2):c.888-1G>T rs1706733354
NM_016247.4(IMPG2):c.888-2A>G
NM_016247.4(IMPG2):c.889T>C (p.Ser297Pro)
NM_016247.4(IMPG2):c.908+17T>C
NM_016247.4(IMPG2):c.908+18C>T rs749812968
NM_016247.4(IMPG2):c.908+1G>A rs1253611243
NM_016247.4(IMPG2):c.909-3T>C
NM_016247.4(IMPG2):c.909-8A>G
NM_016247.4(IMPG2):c.915A>C (p.Val305=)
NM_016247.4(IMPG2):c.928G>A (p.Ala310Thr) rs1706627291
NM_016247.4(IMPG2):c.930A>T (p.Ala310=)
NM_016247.4(IMPG2):c.931G>C (p.Val311Leu) rs1706627176
NM_016247.4(IMPG2):c.945T>C (p.Gly315=) rs2107234929
NM_016247.4(IMPG2):c.946del (p.Glu316fs) rs1706627038
NM_016247.4(IMPG2):c.957C>A (p.Ser319Arg)
NM_016247.4(IMPG2):c.965C>A (p.Thr322Asn) rs1450344393
NM_016247.4(IMPG2):c.969G>C (p.Trp323Cys) rs1210475358
NM_016247.4(IMPG2):c.970G>A (p.Asp324Asn)
NM_016247.4(IMPG2):c.970G>C (p.Asp324His) rs750457079

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