NM_000530.8(MPZ):c.*1020G>A
|
rs886045472 |
NM_000530.8(MPZ):c.*102C>T
|
|
NM_000530.8(MPZ):c.*1074A>C
|
rs886045471 |
NM_000530.8(MPZ):c.*251C>G
|
rs772995394 |
NM_000530.8(MPZ):c.*341A>G
|
|
NM_000530.8(MPZ):c.*369C>T
|
|
NM_000530.8(MPZ):c.*435T>G
|
|
NM_000530.8(MPZ):c.*522C>A
|
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563 |
NM_000530.8(MPZ):c.*681A>T
|
rs886045474 |
NM_000530.8(MPZ):c.*752G>A
|
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473 |
NM_000530.8(MPZ):c.*903G>A
|
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608 |
NM_000530.8(MPZ):c.-10_-6dup
|
rs1571822935 |
NM_000530.8(MPZ):c.-49C>A
|
rs750777955 |
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
|
rs1571820317 |
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)
|
rs121913596 |
NM_000530.8(MPZ):c.103G>C (p.Asp35His)
|
|
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)
|
rs864622732 |
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)
|
rs864622732 |
NM_000530.8(MPZ):c.123_125del (p.Val42del)
|
rs1571820248 |
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser)
|
|
NM_000530.8(MPZ):c.128G>T (p.Gly43Val)
|
rs1571820237 |
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
|
rs1571820186 |
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys)
|
rs121913598 |
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598 |
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353 |
NM_000530.8(MPZ):c.136G>A (p.Val46Met)
|
rs1571820190 |
NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
|
rs1180998665 |
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)
|
rs1571820161 |
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro)
|
rs1571820161 |
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)
|
rs1571820143 |
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
|
|
NM_000530.8(MPZ):c.149_151del (p.Cys50del)
|
rs1553259792 |
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp)
|
rs1571820129 |
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)
|
rs1553259790 |
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro)
|
rs1553259785 |
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
|
rs1571820092 |
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)
|
rs281865133 |
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
|
rs1571820067 |
NM_000530.8(MPZ):c.172G>T (p.Val58Phe)
|
rs1341175303 |
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
|
rs1571820049 |
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
|
rs797044845 |
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)
|
rs786204119 |
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
|
|
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)
|
rs121913585 |
NM_000530.8(MPZ):c.188_190del (p.Ser63del)
|
rs879254109 |
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
|
rs1571819975 |
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)
|
rs1553259760 |
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
|
rs1571819964 |
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)
|
rs1571819964 |
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
|
rs775361544 |
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099 |
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
|
rs201720099 |
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)
|
rs1571819911 |
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
|
|
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)
|
rs1571819890 |
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu)
|
rs1571819875 |
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)
|
rs573007540 |
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)
|
rs573007540 |
NM_000530.8(MPZ):c.223del (p.Asp75fs)
|
rs1571819824 |
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
|
rs1170786711 |
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)
|
rs121913601 |
NM_000530.8(MPZ):c.235-1G>C
|
rs1571819375 |
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)
|
rs281865123 |
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594 |
NM_000530.8(MPZ):c.242A>T (p.His81Leu)
|
rs121913594 |
NM_000530.8(MPZ):c.243C>G (p.His81Gln)
|
rs1571819354 |
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124 |
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
|
rs1553259707 |
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707 |
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
|
rs1571819301 |
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)
|
rs121913584 |
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492 |
NM_000530.8(MPZ):c.276G>A (p.Val92=)
|
rs1558154193 |
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)
|
rs1060503418 |
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala)
|
rs1060503418 |
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)
|
rs121913583 |
NM_000530.8(MPZ):c.290_293del (p.Glu97fs)
|
rs1571819196 |
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser)
|
rs121913590 |
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589 |
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
|
rs1571819182 |
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)
|
rs1553259683 |
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)
|
rs1017715903 |
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
|
rs1558154149 |
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125 |
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp)
|
rs1571819127 |
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
|
rs1571819084 |
NM_000530.8(MPZ):c.317G>A (p.Arg106His)
|
rs145039212 |
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
|
|
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)
|
rs1060503420 |
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu)
|
rs1571819047 |
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
|
rs1468741050 |
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)
|
rs1553259663 |
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
|
rs1553259663 |
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr)
|
rs1553259662 |
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
|
rs281865126 |
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr)
|
rs267607241 |
NM_000530.8(MPZ):c.342A>G (p.Ile114Met)
|
rs1571818994 |
NM_000530.8(MPZ):c.346A>C (p.Asn116His)
|
rs267607242 |
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
|
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130 |
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn)
|
rs1571818972 |
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038 |
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser)
|
rs1571818948 |
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)
|
rs121913608 |
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys)
|
rs121913608 |
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)
|
rs1553259656 |
NM_000530.8(MPZ):c.368G>T (p.Gly123Val)
|
rs1553259656 |
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del)
|
rs1571818858 |
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala)
|
rs1571818905 |
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595 |
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
|
rs1571818880 |
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
|
rs797044941 |
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)
|
rs267607243 |
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly)
|
rs1571818845 |
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu)
|
rs772611598 |
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr)
|
rs1571818826 |
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)
|
rs1571818819 |
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)
|
rs1553259649 |
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)
|
rs1571818800 |
NM_000530.8(MPZ):c.396_397del (p.Pro133fs)
|
rs1571818797 |
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
|
rs1553259648 |
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647 |
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly)
|
rs1571818775 |
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu)
|
rs1571818770 |
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)
|
rs879253858 |
NM_000530.8(MPZ):c.405A>G (p.Ile135Met)
|
rs1571818752 |
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
|
rs1571818744 |
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala)
|
rs863225025 |
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
|
rs863225025 |
NM_000530.8(MPZ):c.411C>T (p.Gly137=)
|
rs1558153994 |
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn)
|
rs1571818712 |
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn)
|
rs1571818702 |
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627 |
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys)
|
rs863224449 |
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)
|
rs1456458087 |
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg)
|
rs750724650 |
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650 |
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro)
|
rs1571818648 |
NM_000530.8(MPZ):c.431del (p.Leu144fs)
|
rs1182353109 |
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
|
rs1571818632 |
NM_000530.8(MPZ):c.436G>T (p.Val146Phe)
|
rs1571818627 |
NM_000530.8(MPZ):c.437T>G (p.Val146Gly)
|
rs1571818614 |
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
|
|
NM_000530.8(MPZ):c.449-1G>A
|
rs1571818339 |
NM_000530.8(MPZ):c.449-1G>C
|
rs1571818339 |
NM_000530.8(MPZ):c.449-1G>T
|
rs1571818339 |
NM_000530.8(MPZ):c.449-9C>T
|
rs750530042 |
NM_000530.8(MPZ):c.45T>G (p.Ala15=)
|
rs1571822805 |
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)
|
rs1571818312 |
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)
|
rs281865128 |
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128 |
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)
|
rs121913586 |
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586 |
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)
|
rs886045475 |
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)
|
rs1571818114 |
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter)
|
rs140671661 |
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg)
|
rs753107323 |
NM_000530.8(MPZ):c.550C>G (p.Leu184Val)
|
rs1571818032 |
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
|
rs1571818007 |
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
|
|
NM_000530.8(MPZ):c.551del (p.Leu184fs)
|
rs1571818021 |
NM_000530.8(MPZ):c.553del (p.Arg185fs)
|
rs1571818002 |
NM_000530.8(MPZ):c.554del (p.Arg185fs)
|
rs1571817993 |
NM_000530.8(MPZ):c.560_566del (p.Gln187fs)
|
rs1571817945 |
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
|
|
NM_000530.8(MPZ):c.570del (p.Gln191fs)
|
rs1571817919 |
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys)
|
rs761291277 |
NM_000530.8(MPZ):c.584+2T>G
|
rs879254054 |
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln)
|
rs770994564 |
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)
|
rs932826788 |
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
|
|
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)
|
rs1571817547 |
NM_000530.8(MPZ):c.626_630del (p.Ala209fs)
|
rs1571817499 |
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679 |
NM_000530.8(MPZ):c.645+1G>T
|
rs281865131 |
NM_000530.8(MPZ):c.645+2dup
|
rs1571817455 |
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)
|
rs281865132 |
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
|
|
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
|
rs1571817201 |
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
|
rs1571817197 |
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247 |
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly)
|
rs1571817154 |
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)
|
rs1571817154 |
NM_000530.8(MPZ):c.68-3C>A
|
rs1182729605 |
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
|
rs1571817146 |
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del)
|
rs755446743 |
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
|
|
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu)
|
rs1571817094 |
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)
|
rs1571816993 |
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)
|
rs1571816977 |
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760 |
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121 |
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)
|
rs281865121 |
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)
|
rs770546306 |
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)
|
rs1034932344 |
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
|
rs771372609 |