| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4932679G>A | CA497677106 | CHRNE,GP1BA | c.75G>A (p.Val25=) c.-888+1663C>T (n.-888+1663C>T) | gnomAD v4 |
| 17 | g.4932679G>C | CA497677107 | CHRNE,GP1BA | c.75G>C (p.Val25=) c.-888+1663C>G (n.-888+1663C>G) | |
| 17 | g.4932679G>T | CA497677108 | CHRNE,GP1BA | c.75G>T (p.Val25=) c.-888+1663C>A (n.-888+1663C>A) | |
| 17 | g.4932680G>A | CA397314172 | CHRNE,GP1BA | c.76G>A (p.Ala26Thr) c.-888+1662C>T (n.-888+1662C>T) | |
| 17 | g.4932680G>C | CA397314175 | CHRNE,GP1BA | c.76G>C (p.Ala26Pro) c.-888+1662C>G (n.-888+1662C>G) | |
| 17 | g.4932680G>T | CA397314178 | CHRNE,GP1BA | c.76G>T (p.Ala26Ser) c.-888+1662C>A (n.-888+1662C>A) | |
| 17 | g.4932681C>A | CA397314192 | CHRNE,GP1BA | c.77C>A (p.Ala26Asp) c.-888+1661G>T (n.-888+1661G>T) | |
| 17 | g.4932681C= | CA2244625256 | CHRNE,GP1BA | c.77C= (p.Ala26=) c.-888+1661G= (n.-888+1661G=) | |
| 17 | g.4932681C>G | CA8314691 | CHRNE,GP1BA | c.77C>G (p.Ala26Gly) c.-888+1661G>C (n.-888+1661G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932681C>T | CA397314181 | CHRNE,GP1BA | c.77C>T (p.Ala26Val) c.-888+1661G>A (n.-888+1661G>A) | |
| 17 | g.4932682C>A | CA497677114 | CHRNE,GP1BA | c.78C>A (p.Ala26=) c.-888+1660G>T (n.-888+1660G>T) | |
| 17 | g.4932682C>G | CA497677117 | CHRNE,GP1BA | c.78C>G (p.Ala26=) c.-888+1660G>C (n.-888+1660G>C) | |
| 17 | g.4932682C>T | CA497677116 | CHRNE,GP1BA | c.78C>T (p.Ala26=) c.-888+1660G>A (n.-888+1660G>A) | |
| 17 | g.4932683A>C | CA397314199 | CHRNE,GP1BA | c.79A>C (p.Ser27Arg) c.-888+1659T>G (n.-888+1659T>G) | |
| 17 | g.4932683A>G | CA397314202 | CHRNE,GP1BA | c.79A>G (p.Ser27Gly) c.-888+1659T>C (n.-888+1659T>C) | |
| 17 | g.4932683A>T | CA397314205 | CHRNE,GP1BA | c.79A>T (p.Ser27Cys) c.-888+1659T>A (n.-888+1659T>A) | |
| 17 | g.4932684G>A | CA397314207 | CHRNE,GP1BA | c.80G>A (p.Ser27Asn) c.-888+1658C>T (n.-888+1658C>T) | COSMIC |
| 17 | g.4932684G>C | CA397314209 | CHRNE,GP1BA | c.80G>C (p.Ser27Thr) c.-888+1658C>G (n.-888+1658C>G) | |
| 17 | g.4932684G>T | CA397314210 | CHRNE,GP1BA | c.80G>T (p.Ser27Ile) c.-888+1658C>A (n.-888+1658C>A) | |
| 17 | g.4932685C>A | CA397314211 | CHRNE,GP1BA | c.81C>A (p.Ser27Arg) c.-888+1657G>T (n.-888+1657G>T) | |
| 17 | g.4932685C>G | CA397314214 | CHRNE,GP1BA | c.81C>G (p.Ser27Arg) c.-888+1657G>C (n.-888+1657G>C) | |
| 17 | g.4932685C>T | CA497677122 | CHRNE,GP1BA | c.81C>T (p.Ser27=) c.-888+1657G>A (n.-888+1657G>A) | |
| 17 | g.4932686C>A | CA397314217 | CHRNE,GP1BA | c.82C>A (p.His28Asn) c.-888+1656G>T (n.-888+1656G>T) | |
| 17 | g.4932686C>G | CA397314218 | CHRNE,GP1BA | c.82C>G (p.His28Asp) c.-888+1656G>C (n.-888+1656G>C) | |
| 17 | g.4932686C>T | CA397314220 | CHRNE,GP1BA | c.82C>T (p.His28Tyr) c.-888+1656G>A (n.-888+1656G>A) | |
| 17 | g.4932687A>C | CA397314223 | CHRNE,GP1BA | c.83A>C (p.His28Pro) c.-888+1655T>G (n.-888+1655T>G) | |
| 17 | g.4932687A>G | CA397314226 | CHRNE,GP1BA | c.83A>G (p.His28Arg) c.-888+1655T>C (n.-888+1655T>C) | gnomAD v4 |
| 17 | g.4932687A>T | CA397314232 | CHRNE,GP1BA | c.83A>T (p.His28Leu) c.-888+1655T>A (n.-888+1655T>A) | |
| 17 | g.4932688C>A | CA397314238 | CHRNE,GP1BA | c.84C>A (p.His28Gln) c.-888+1654G>T (n.-888+1654G>T) | |
| 17 | g.4932688C= | CA2244625257 | CHRNE,GP1BA | c.84C= (p.His28=) c.-888+1654G= (n.-888+1654G=) | |
| 17 | g.4932688C>G | CA397314235 | CHRNE,GP1BA | c.84C>G (p.His28Gln) c.-888+1654G>C (n.-888+1654G>C) | |
| 17 | g.4932688C>T | CA497677131 | CHRNE,GP1BA | c.84C>T (p.His28=) c.-888+1654G>A (n.-888+1654G>A) | dbSNP gnomAD v2 |
| 17 | g.4932689C>A | CA397314240 | CHRNE,GP1BA | c.85C>A (p.Leu29Ile) c.-888+1653G>T (n.-888+1653G>T) | |
| 17 | g.4932689C>G | CA397314241 | CHRNE,GP1BA | c.85C>G (p.Leu29Val) c.-888+1653G>C (n.-888+1653G>C) | |
| 17 | g.4932689C>T | CA497677134 | CHRNE,GP1BA | c.85C>T (p.Leu29=) c.-888+1653G>A (n.-888+1653G>A) | |
| 17 | g.4932690T>A | CA397314243 | CHRNE,GP1BA | c.86T>A (p.Leu29Gln) c.-888+1652A>T (n.-888+1652A>T) | |
| 17 | g.4932690T>C | CA397314245 | CHRNE,GP1BA | c.86T>C (p.Leu29Pro) c.-888+1652A>G (n.-888+1652A>G) | |
| 17 | g.4932690T>G | CA397314248 | CHRNE,GP1BA | c.86T>G (p.Leu29Arg) c.-888+1652A>C (n.-888+1652A>C) | |
| 17 | g.4932691A>C | CA497677135 | CHRNE,GP1BA | c.87A>C (p.Leu29=) c.-888+1651T>G (n.-888+1651T>G) | |
| 17 | g.4932691A>G | CA497677136 | CHRNE,GP1BA | c.87A>G (p.Leu29=) c.-888+1651T>C (n.-888+1651T>C) | |
| 17 | g.4932691A>T | CA497677137 | CHRNE,GP1BA | c.87A>T (p.Leu29=) c.-888+1651T>A (n.-888+1651T>A) | |
| 17 | g.4932692G>A | CA397314266 | CHRNE,GP1BA | c.88G>A (p.Glu30Lys) c.-888+1650C>T (n.-888+1650C>T) | |
| 17 | g.4932692G>C | CA397314261 | CHRNE,GP1BA | c.88G>C (p.Glu30Gln) c.-888+1650C>G (n.-888+1650C>G) | COSMIC |
| 17 | g.4932692G>T | CA397314257 | CHRNE,GP1BA | c.88G>T (p.Glu30Ter) c.-888+1650C>A (n.-888+1650C>A) | |
| 17 | g.4932693A>C | CA397314271 | CHRNE,GP1BA | c.89A>C (p.Glu30Ala) c.-888+1649T>G (n.-888+1649T>G) | |
| 17 | g.4932693A>G | CA397314273 | CHRNE,GP1BA | c.89A>G (p.Glu30Gly) c.-888+1649T>C (n.-888+1649T>C) | |
| 17 | g.4932693A>T | CA397314275 | CHRNE,GP1BA | c.89A>T (p.Glu30Val) c.-888+1649T>A (n.-888+1649T>A) | |
| 17 | g.4932694A= | CA2244625258 | CHRNE,GP1BA | c.90A= (p.Glu30=) c.-888+1648T= (n.-888+1648T=) | |
| 17 | g.4932694A>C | CA397314280 | CHRNE,GP1BA | c.90A>C (p.Glu30Asp) c.-888+1648T>G (n.-888+1648T>G) | |
| 17 | g.4932694A>G | CA8314692 | CHRNE,GP1BA | c.90A>G (p.Glu30=) c.-888+1648T>C (n.-888+1648T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932694A>T | CA397314292 | CHRNE,GP1BA | c.90A>T (p.Glu30Asp) c.-888+1648T>A (n.-888+1648T>A) | |
| 17 | g.4932695G>A | CA397314297 | CHRNE,GP1BA | c.91G>A (p.Val31Met) c.-888+1647C>T (n.-888+1647C>T) | |
| 17 | g.4932695G>C | CA397314302 | CHRNE,GP1BA | c.91G>C (p.Val31Leu) c.-888+1647C>G (n.-888+1647C>G) | |
| 17 | g.4932695G>T | CA397314300 | CHRNE,GP1BA | c.91G>T (p.Val31Leu) c.-888+1647C>A (n.-888+1647C>A) | |
| 17 | g.4932696T>A | CA397314305 | CHRNE,GP1BA | c.92T>A (p.Val31Glu) c.-888+1646A>T (n.-888+1646A>T) | ClinVar |
| 17 | g.4932696T>C | CA8314693 | CHRNE,GP1BA | c.92T>C (p.Val31Ala) c.-888+1646A>G (n.-888+1646A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932696T>G | CA397314309 | CHRNE,GP1BA | c.92T>G (p.Val31Gly) c.-888+1646A>C (n.-888+1646A>C) | |
| 17 | g.4932696T= | CA2244625259 | CHRNE,GP1BA | c.92T= (p.Val31=) c.-888+1646A= (n.-888+1646A=) | |
| 17 | g.4932697G>A | CA497677144 | CHRNE,GP1BA | c.93G>A (p.Val31=) c.-888+1645C>T (n.-888+1645C>T) | gnomAD v4 |
| 17 | g.4932697G>C | CA497677142 | CHRNE,GP1BA | c.93G>C (p.Val31=) c.-888+1645C>G (n.-888+1645C>G) | |
| 17 | g.4932697G>T | CA497677143 | CHRNE,GP1BA | c.93G>T (p.Val31=) c.-888+1645C>A (n.-888+1645C>A) | |
| 17 | g.4932698A>C | CA397314311 | CHRNE,GP1BA | c.94A>C (p.Asn32His) c.-888+1644T>G (n.-888+1644T>G) | |
| 17 | g.4932698A>G | CA397314314 | CHRNE,GP1BA | c.94A>G (p.Asn32Asp) c.-888+1644T>C (n.-888+1644T>C) | |
| 17 | g.4932698A>T | CA397314318 | CHRNE,GP1BA | c.94A>T (p.Asn32Tyr) c.-888+1644T>A (n.-888+1644T>A) | |
| 17 | g.4932698_4932699insG | CA2580610936 | CHRNE,GP1BA | c.94_95insG (p.Asn32ArgfsTer3) c.-888+1643_-888+1644insC (n.-888+1643_-888+1644insC) | |
| 17 | g.4932699A>C | CA397314329 | CHRNE,GP1BA | c.95A>C (p.Asn32Thr) c.-888+1643T>G (n.-888+1643T>G) | |
| 17 | g.4932699A>G | CA397314325 | CHRNE,GP1BA | c.95A>G (p.Asn32Ser) c.-888+1643T>C (n.-888+1643T>C) | |
| 17 | g.4932699A>T | CA397314327 | CHRNE,GP1BA | c.95A>T (p.Asn32Ile) c.-888+1643T>A (n.-888+1643T>A) | |
| 17 | g.4932700C>A | CA397314332 | CHRNE,GP1BA | c.96C>A (p.Asn32Lys) c.-888+1642G>T (n.-888+1642G>T) | COSMIC |
| 17 | g.4932700C>G | CA397314334 | CHRNE,GP1BA | c.96C>G (p.Asn32Lys) c.-888+1642G>C (n.-888+1642G>C) | |
| 17 | g.4932700C>T | CA497677228 | CHRNE,GP1BA | c.96C>T (p.Asn32=) c.-888+1642G>A (n.-888+1642G>A) | |
| 17 | g.4932701T>A | CA397314338 | CHRNE,GP1BA | c.97T>A (p.Cys33Ser) c.-888+1641A>T (n.-888+1641A>T) | |
| 17 | g.4932701T>C | CA397314339 | CHRNE,GP1BA | c.97T>C (p.Cys33Arg) c.-888+1641A>G (n.-888+1641A>G) | ClinVar dbSNP |
| 17 | g.4932701T>G | CA397314340 | CHRNE,GP1BA | c.97T>G (p.Cys33Gly) c.-888+1641A>C (n.-888+1641A>C) | |
| 17 | g.4932701dup | CA2808297058 | CHRNE,GP1BA | c.97dup (p.Cys33LeufsTer2) c.-888+1641dup (n.-888+1641dup) | |
| 17 | g.4932702G>A | CA397314343 | CHRNE,GP1BA | c.98G>A (p.Cys33Tyr) c.-888+1640C>T (n.-888+1640C>T) | ClinVar dbSNP |
| 17 | g.4932702G>C | CA397314347 | CHRNE,GP1BA | c.98G>C (p.Cys33Ser) c.-888+1640C>G (n.-888+1640C>G) | ClinVar dbSNP |
| 17 | g.4932702G= | CA2244625260 | CHRNE,GP1BA | c.98G= (p.Cys33=) c.-888+1640C= (n.-888+1640C=) | |
| 17 | g.4932702G>T | CA397314344 | CHRNE,GP1BA | c.98G>T (p.Cys33Phe) c.-888+1640C>A (n.-888+1640C>A) | |
| 17 | g.4932703T>A | CA397314350 | CHRNE,GP1BA | c.99T>A (p.Cys33Ter) c.-888+1639A>T (n.-888+1639A>T) | |
| 17 | g.4932703T>C | CA497677229 | CHRNE,GP1BA | c.99T>C (p.Cys33=) c.-888+1639A>G (n.-888+1639A>G) | |
| 17 | g.4932703T>G | CA397314351 | CHRNE,GP1BA | c.99T>G (p.Cys33Trp) c.-888+1639A>C (n.-888+1639A>C) | |
| 17 | g.4932704G>A | CA287215655 | CHRNE,GP1BA | c.100G>A (p.Asp34Asn) c.-888+1638C>T (n.-888+1638C>T) | dbSNP |
| 17 | g.4932704G>C | CA397314352 | CHRNE,GP1BA | c.100G>C (p.Asp34His) c.-888+1638C>G (n.-888+1638C>G) | |
| 17 | g.4932704G= | CA2244625261 | CHRNE,GP1BA | c.100G= (p.Asp34=) c.-888+1638C= (n.-888+1638C=) | |
| 17 | g.4932704G>T | CA397314353 | CHRNE,GP1BA | c.100G>T (p.Asp34Tyr) c.-888+1638C>A (n.-888+1638C>A) | |
| 17 | g.4932705A>C | CA397314355 | CHRNE,GP1BA | c.101A>C (p.Asp34Ala) c.-888+1637T>G (n.-888+1637T>G) | |
| 17 | g.4932705A>G | CA397314357 | CHRNE,GP1BA | c.101A>G (p.Asp34Gly) c.-888+1637T>C (n.-888+1637T>C) | |
| 17 | g.4932705A>T | CA397314359 | CHRNE,GP1BA | c.101A>T (p.Asp34Val) c.-888+1637T>A (n.-888+1637T>A) | |
| 17 | g.4932706C>A | CA397314361 | CHRNE,GP1BA | c.102C>A (p.Asp34Glu) c.-888+1636G>T (n.-888+1636G>T) | gnomAD v4 |
| 17 | g.4932706C>G | CA397314366 | CHRNE,GP1BA | c.102C>G (p.Asp34Glu) c.-888+1636G>C (n.-888+1636G>C) | |
| 17 | g.4932706C>T | CA497677237 | CHRNE,GP1BA | c.102C>T (p.Asp34=) c.-888+1636G>A (n.-888+1636G>A) | |
| 17 | g.4932706_4932707delinsCA | CA2244625262 | CHRNE,GP1BA | c.102_103delinsCA (p.Asp34=) c.-888+1635_-888+1636delinsTG (n.-888+1635_-888+1636delinsTG) | |
| 17 | g.4932707A>C | CA397314370 | CHRNE,GP1BA | c.103A>C (p.Lys35Gln) c.-888+1635T>G (n.-888+1635T>G) | |
| 17 | g.4932707A>G | CA397314368 | CHRNE,GP1BA | c.103A>G (p.Lys35Glu) c.-888+1635T>C (n.-888+1635T>C) | |
| 17 | g.4932707A>T | CA397314369 | CHRNE,GP1BA | c.103A>T (p.Lys35Ter) c.-888+1635T>A (n.-888+1635T>A) | |
| 17 | g.4932707_4932708del | CA2808297059 | CHRNE,GP1BA | c.103_104del (p.Lys35GlufsTer21) c.-888+1634_-888+1635del (n.-888+1634_-888+1635del) | |
| 17 | g.4932708del | CA658798681 | CHRNE,GP1BA | c.104del (p.Lys35ArgfsTer4) c.-888+1635del (n.-888+1635del) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4932708A>C | CA397314371 | CHRNE,GP1BA | c.104A>C (p.Lys35Thr) c.-888+1634T>G (n.-888+1634T>G) | |
| 17 | g.4932708A>G | CA397314373 | CHRNE,GP1BA | c.104A>G (p.Lys35Arg) c.-888+1634T>C (n.-888+1634T>C) | gnomAD v4 |
| 17 | g.4932708A>T | CA397314372 | CHRNE,GP1BA | c.104A>T (p.Lys35Met) c.-888+1634T>A (n.-888+1634T>A) | |
| 17 | g.4932709G>A | CA8314694 | CHRNE,GP1BA | c.105G>A (p.Lys35=) c.-888+1633C>T (n.-888+1633C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.4932709G>C | CA397314376 | CHRNE,GP1BA | c.105G>C (p.Lys35Asn) c.-888+1633C>G (n.-888+1633C>G) | |
| 17 | g.4932709G= | CA2244625263 | CHRNE,GP1BA | c.105G= (p.Lys35=) c.-888+1633C= (n.-888+1633C=) | |
| 17 | g.4932709G>T | CA397314375 | CHRNE,GP1BA | c.105G>T (p.Lys35Asn) c.-888+1633C>A (n.-888+1633C>A) | |
| 17 | g.4932710A= | CA2244625264 | CHRNE,GP1BA | c.106A= (p.Arg36=) c.-888+1632T= (n.-888+1632T=) | |
| 17 | g.4932710A>C | CA497677240 | CHRNE,GP1BA | c.106A>C (p.Arg36=) c.-888+1632T>G (n.-888+1632T>G) | |
| 17 | g.4932710A>G | CA8314695 | CHRNE,GP1BA | c.106A>G (p.Arg36Gly) c.-888+1632T>C (n.-888+1632T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932710A>T | CA397314380 | CHRNE,GP1BA | c.106A>T (p.Arg36Trp) c.-888+1632T>A (n.-888+1632T>A) | |
| 17 | g.4932711G>A | CA8314696 | CHRNE,GP1BA | c.107G>A (p.Arg36Lys) c.-888+1631C>T (n.-888+1631C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932711G>C | CA397314387 | CHRNE,GP1BA | c.107G>C (p.Arg36Thr) c.-888+1631C>G (n.-888+1631C>G) | |
| 17 | g.4932711G= | CA2244625265 | CHRNE,GP1BA | c.107G= (p.Arg36=) c.-888+1631C= (n.-888+1631C=) | |
| 17 | g.4932711G>T | CA397314389 | CHRNE,GP1BA | c.107G>T (p.Arg36Met) c.-888+1631C>A (n.-888+1631C>A) | |
| 17 | g.4932712G>A | CA497677244 | CHRNE,GP1BA | c.108G>A (p.Arg36=) c.-888+1630C>T (n.-888+1630C>T) | COSMIC |
| 17 | g.4932712G>C | CA397314393 | CHRNE,GP1BA | c.108G>C (p.Arg36Ser) c.-888+1630C>G (n.-888+1630C>G) | |
| 17 | g.4932712G>T | CA397314398 | CHRNE,GP1BA | c.108G>T (p.Arg36Ser) c.-888+1630C>A (n.-888+1630C>A) | |
| 17 | g.4932713A>C | CA397314400 | CHRNE,GP1BA | c.109A>C (p.Asn37His) c.-888+1629T>G (n.-888+1629T>G) | gnomAD v4 |
| 17 | g.4932713A>G | CA397314401 | CHRNE,GP1BA | c.109A>G (p.Asn37Asp) c.-888+1629T>C (n.-888+1629T>C) | |
| 17 | g.4932713A>T | CA397314403 | CHRNE,GP1BA | c.109A>T (p.Asn37Tyr) c.-888+1629T>A (n.-888+1629T>A) | |
| 17 | g.4932714A>C | CA397314407 | CHRNE,GP1BA | c.110A>C (p.Asn37Thr) c.-888+1628T>G (n.-888+1628T>G) | |
| 17 | g.4932714A>G | CA397314412 | CHRNE,GP1BA | c.110A>G (p.Asn37Ser) c.-888+1628T>C (n.-888+1628T>C) | gnomAD v4 |
| 17 | g.4932714A>T | CA397314410 | CHRNE,GP1BA | c.110A>T (p.Asn37Ile) c.-888+1628T>A (n.-888+1628T>A) | |
| 17 | g.4932715T>A | CA397314415 | CHRNE,GP1BA | c.111T>A (p.Asn37Lys) c.-888+1627A>T (n.-888+1627A>T) | |
| 17 | g.4932715T>C | CA497677247 | CHRNE,GP1BA | c.111T>C (p.Asn37=) c.-888+1627A>G (n.-888+1627A>G) | |
| 17 | g.4932715T>G | CA397314416 | CHRNE,GP1BA | c.111T>G (p.Asn37Lys) c.-888+1627A>C (n.-888+1627A>C) | |
| 17 | g.4932716C>A | CA397314418 | CHRNE,GP1BA | c.112C>A (p.Leu38Met) c.-888+1626G>T (n.-888+1626G>T) | |
| 17 | g.4932716C= | CA2244625266 | CHRNE,GP1BA | c.112C= (p.Leu38=) c.-888+1626G= (n.-888+1626G=) | |
| 17 | g.4932716C>G | CA8314698 | CHRNE,GP1BA | c.112C>G (p.Leu38Val) c.-888+1626G>C (n.-888+1626G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932716C>T | CA497677251 | CHRNE,GP1BA | c.112C>T (p.Leu38=) c.-888+1626G>A (n.-888+1626G>A) | |
| 17 | g.4932716_4932717delinsCT | CA2244625267 | CHRNE,GP1BA | c.112_113delinsCT (p.Leu38=) c.-888+1625_-888+1626delinsAG (n.-888+1625_-888+1626delinsAG) | |
| 17 | g.4932717del | CA8314697 | CHRNE,GP1BA | c.113del (p.Leu38ArgfsTer17) c.-888+1625del (n.-888+1625del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932717T>A | CA397314424 | CHRNE,GP1BA | c.113T>A (p.Leu38Gln) c.-888+1625A>T (n.-888+1625A>T) | |
| 17 | g.4932717T>C | CA397314434 | CHRNE,GP1BA | c.113T>C (p.Leu38Pro) c.-888+1625A>G (n.-888+1625A>G) | |
| 17 | g.4932717T>G | CA397314431 | CHRNE,GP1BA | c.113T>G (p.Leu38Arg) c.-888+1625A>C (n.-888+1625A>C) | |
| 17 | g.4932718G>A | CA8314699 | CHRNE,GP1BA | c.114G>A (p.Leu38=) c.-888+1624C>T (n.-888+1624C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932718G>C | CA497677255 | CHRNE,GP1BA | c.114G>C (p.Leu38=) c.-888+1624C>G (n.-888+1624C>G) | |
| 17 | g.4932718G= | CA2244625268 | CHRNE,GP1BA | c.114G= (p.Leu38=) c.-888+1624C= (n.-888+1624C=) | |
| 17 | g.4932718G>T | CA497677256 | CHRNE,GP1BA | c.114G>T (p.Leu38=) c.-888+1624C>A (n.-888+1624C>A) | |
| 17 | g.4932719A>C | CA397314441 | CHRNE,GP1BA | c.115A>C (p.Thr39Pro) c.-888+1623T>G (n.-888+1623T>G) | |
| 17 | g.4932719A>G | CA397314445 | CHRNE,GP1BA | c.115A>G (p.Thr39Ala) c.-888+1623T>C (n.-888+1623T>C) | |
| 17 | g.4932719A>T | CA397314449 | CHRNE,GP1BA | c.115A>T (p.Thr39Ser) c.-888+1623T>A (n.-888+1623T>A) | |
| 17 | g.4932720C>A | CA397314451 | CHRNE,GP1BA | c.116C>A (p.Thr39Lys) c.-888+1622G>T (n.-888+1622G>T) | |
| 17 | g.4932720C= | CA2244625269 | CHRNE,GP1BA | c.116C= (p.Thr39=) c.-888+1622G= (n.-888+1622G=) | |
| 17 | g.4932720C>G | CA8314700 | CHRNE,GP1BA | c.116C>G (p.Thr39Arg) c.-888+1622G>C (n.-888+1622G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.4932720C>T | CA397314454 | CHRNE,GP1BA | c.116C>T (p.Thr39Ile) c.-888+1622G>A (n.-888+1622G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932721A= | CA2244625270 | CHRNE,GP1BA | c.117A= (p.Thr39=) c.-888+1621T= (n.-888+1621T=) | |
| 17 | g.4932721A>C | CA497677261 | CHRNE,GP1BA | c.117A>C (p.Thr39=) c.-888+1621T>G (n.-888+1621T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932721A>G | CA497677262 | CHRNE,GP1BA | c.117A>G (p.Thr39=) c.-888+1621T>C (n.-888+1621T>C) | |
| 17 | g.4932721A>T | CA497677263 | CHRNE,GP1BA | c.117A>T (p.Thr39=) c.-888+1621T>A (n.-888+1621T>A) | |
| 17 | g.4932722G>A | CA397314456 | CHRNE,GP1BA | c.118G>A (p.Ala40Thr) c.-888+1620C>T (n.-888+1620C>T) | |
| 17 | g.4932722G>C | CA397314459 | CHRNE,GP1BA | c.118G>C (p.Ala40Pro) c.-888+1620C>G (n.-888+1620C>G) | |
| 17 | g.4932722G>T | CA397314462 | CHRNE,GP1BA | c.118G>T (p.Ala40Ser) c.-888+1620C>A (n.-888+1620C>A) | |
| 17 | g.4932723C>A | CA397314473 | CHRNE,GP1BA | c.119C>A (p.Ala40Glu) c.-888+1619G>T (n.-888+1619G>T) | dbSNP |
| 17 | g.4932723C= | CA2244625271 | CHRNE,GP1BA | c.119C= (p.Ala40=) c.-888+1619G= (n.-888+1619G=) | |
| 17 | g.4932723C>G | CA397314466 | CHRNE,GP1BA | c.119C>G (p.Ala40Gly) c.-888+1619G>C (n.-888+1619G>C) | |
| 17 | g.4932723C>T | CA397314468 | CHRNE,GP1BA | c.119C>T (p.Ala40Val) c.-888+1619G>A (n.-888+1619G>A) | gnomAD v4 |
| 17 | g.4932724G>A | CA8314701 | CHRNE,GP1BA | c.120G>A (p.Ala40=) c.-888+1618C>T (n.-888+1618C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932724G>C | CA497677268 | CHRNE,GP1BA | c.120G>C (p.Ala40=) c.-888+1618C>G (n.-888+1618C>G) | |
| 17 | g.4932724G= | CA2244625272 | CHRNE,GP1BA | c.120G= (p.Ala40=) c.-888+1618C= (n.-888+1618C=) | |
| 17 | g.4932724G>T | CA497677269 | CHRNE,GP1BA | c.120G>T (p.Ala40=) c.-888+1618C>A (n.-888+1618C>A) | |
| 17 | g.4932725C>A | CA397314476 | CHRNE,GP1BA | c.121C>A (p.Leu41Met) c.-888+1617G>T (n.-888+1617G>T) | |
| 17 | g.4932725C>G | CA397314478 | CHRNE,GP1BA | c.121C>G (p.Leu41Val) c.-888+1617G>C (n.-888+1617G>C) | |
| 17 | g.4932725C>T | CA497677271 | CHRNE,GP1BA | c.121C>T (p.Leu41=) c.-888+1617G>A (n.-888+1617G>A) | gnomAD v4 |
| 17 | g.4932726T>A | CA397314482 | CHRNE,GP1BA | c.122T>A (p.Leu41Gln) c.-888+1616A>T (n.-888+1616A>T) | |
| 17 | g.4932726T>C | CA397314484 | CHRNE,GP1BA | c.122T>C (p.Leu41Pro) c.-888+1616A>G (n.-888+1616A>G) | |
| 17 | g.4932726T>G | CA397314487 | CHRNE,GP1BA | c.122T>G (p.Leu41Arg) c.-888+1616A>C (n.-888+1616A>C) | |
| 17 | g.4932727G>A | CA497677274 | CHRNE,GP1BA | c.123G>A (p.Leu41=) c.-888+1615C>T (n.-888+1615C>T) | |
| 17 | g.4932727G>C | CA497677276 | CHRNE,GP1BA | c.123G>C (p.Leu41=) c.-888+1615C>G (n.-888+1615C>G) | gnomAD v4 |
| 17 | g.4932727G>T | CA497677277 | CHRNE,GP1BA | c.123G>T (p.Leu41=) c.-888+1615C>A (n.-888+1615C>A) | |
| 17 | g.4932728C>A | CA397314491 | CHRNE,GP1BA | c.124C>A (p.Pro42Thr) c.-888+1614G>T (n.-888+1614G>T) | dbSNP |
| 17 | g.4932728C= | CA2244625273 | CHRNE,GP1BA | c.124C= (p.Pro42=) c.-888+1614G= (n.-888+1614G=) | |
| 17 | g.4932728C>G | CA397314496 | CHRNE,GP1BA | c.124C>G (p.Pro42Ala) c.-888+1614G>C (n.-888+1614G>C) | |
| 17 | g.4932728C>T | CA397314498 | CHRNE,GP1BA | c.124C>T (p.Pro42Ser) c.-888+1614G>A (n.-888+1614G>A) | gnomAD v4 |
| 17 | g.4932729C>A | CA397314501 | CHRNE,GP1BA | c.125C>A (p.Pro42His) c.-888+1613G>T (n.-888+1613G>T) | |
| 17 | g.4932729C>G | CA397314504 | CHRNE,GP1BA | c.125C>G (p.Pro42Arg) c.-888+1613G>C (n.-888+1613G>C) | |
| 17 | g.4932729C>T | CA397314506 | CHRNE,GP1BA | c.125C>T (p.Pro42Leu) c.-888+1613G>A (n.-888+1613G>A) | |
| 17 | g.4932730T>A | CA497677278 | CHRNE,GP1BA | c.126T>A (p.Pro42=) c.-888+1612A>T (n.-888+1612A>T) | |
| 17 | g.4932730T>C | CA497677279 | CHRNE,GP1BA | c.126T>C (p.Pro42=) c.-888+1612A>G (n.-888+1612A>G) | |
| 17 | g.4932730T>G | CA497677281 | CHRNE,GP1BA | c.126T>G (p.Pro42=) c.-888+1612A>C (n.-888+1612A>C) | |
| 17 | g.4932731C>A | CA397314516 | CHRNE,GP1BA | c.127C>A (p.Pro43Thr) c.-888+1611G>T (n.-888+1611G>T) | |
| 17 | g.4932731C>G | CA397314515 | CHRNE,GP1BA | c.127C>G (p.Pro43Ala) c.-888+1611G>C (n.-888+1611G>C) | |
| 17 | g.4932731C>T | CA397314513 | CHRNE,GP1BA | c.127C>T (p.Pro43Ser) c.-888+1611G>A (n.-888+1611G>A) | |
| 17 | g.4932732del | CA2576136021 | CHRNE,GP1BA | c.128del (p.Pro43GlnfsTer12) c.-888+1611del (n.-888+1611del) | gnomAD v4 |
| 17 | g.4932732C>A | CA397314519 | CHRNE,GP1BA | c.128C>A (p.Pro43Gln) c.-888+1610G>T (n.-888+1610G>T) | |
| 17 | g.4932732C>G | CA397314520 | CHRNE,GP1BA | c.128C>G (p.Pro43Arg) c.-888+1610G>C (n.-888+1610G>C) | |
| 17 | g.4932732C>T | CA397314524 | CHRNE,GP1BA | c.128C>T (p.Pro43Leu) c.-888+1610G>A (n.-888+1610G>A) | |
| 17 | g.4932733A>C | CA497677288 | CHRNE,GP1BA | c.129A>C (p.Pro43=) c.-888+1609T>G (n.-888+1609T>G) | |
| 17 | g.4932733A>G | CA497677286 | CHRNE,GP1BA | c.129A>G (p.Pro43=) c.-888+1609T>C (n.-888+1609T>C) | |
| 17 | g.4932733A>T | CA497677285 | CHRNE,GP1BA | c.129A>T (p.Pro43=) c.-888+1609T>A (n.-888+1609T>A) | |
| 17 | g.4932734G>A | CA397314528 | CHRNE,GP1BA | c.130G>A (p.Asp44Asn) c.-888+1608C>T (n.-888+1608C>T) | |
| 17 | g.4932734G>C | CA397314531 | CHRNE,GP1BA | c.130G>C (p.Asp44His) c.-888+1608C>G (n.-888+1608C>G) | gnomAD v4 |
| 17 | g.4932734G>T | CA397314533 | CHRNE,GP1BA | c.130G>T (p.Asp44Tyr) c.-888+1608C>A (n.-888+1608C>A) | |
| 17 | g.4932735A= | CA2244625274 | CHRNE,GP1BA | c.131A= (p.Asp44=) c.-888+1607T= (n.-888+1607T=) | |
| 17 | g.4932735A>C | CA397314537 | CHRNE,GP1BA | c.131A>C (p.Asp44Ala) c.-888+1607T>G (n.-888+1607T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932735A>G | CA397314543 | CHRNE,GP1BA | c.131A>G (p.Asp44Gly) c.-888+1607T>C (n.-888+1607T>C) | |
| 17 | g.4932735A>T | CA397314546 | CHRNE,GP1BA | c.131A>T (p.Asp44Val) c.-888+1607T>A (n.-888+1607T>A) | |
| 17 | g.4932736C>A | CA397314552 | CHRNE,GP1BA | c.132C>A (p.Asp44Glu) c.-888+1606G>T (n.-888+1606G>T) | |
| 17 | g.4932736C>G | CA397314555 | CHRNE,GP1BA | c.132C>G (p.Asp44Glu) c.-888+1606G>C (n.-888+1606G>C) | |
| 17 | g.4932736C>T | CA497677292 | CHRNE,GP1BA | c.132C>T (p.Asp44=) c.-888+1606G>A (n.-888+1606G>A) | |
| 17 | g.4932737C>A | CA397314557 | CHRNE,GP1BA | c.133C>A (p.Leu45Met) c.-888+1605G>T (n.-888+1605G>T) | |
| 17 | g.4932737C>G | CA397314561 | CHRNE,GP1BA | c.133C>G (p.Leu45Val) c.-888+1605G>C (n.-888+1605G>C) | |
| 17 | g.4932737C>T | CA497677296 | CHRNE,GP1BA | c.133C>T (p.Leu45=) c.-888+1605G>A (n.-888+1605G>A) | |
| 17 | g.4932738T>A | CA397314567 | CHRNE,GP1BA | c.134T>A (p.Leu45Gln) c.-888+1604A>T (n.-888+1604A>T) | |
| 17 | g.4932738T>C | CA397314569 | CHRNE,GP1BA | c.134T>C (p.Leu45Pro) c.-888+1604A>G (n.-888+1604A>G) | |
| 17 | g.4932738T>G | CA397314564 | CHRNE,GP1BA | c.134T>G (p.Leu45Arg) c.-888+1604A>C (n.-888+1604A>C) | |
| 17 | g.4932739G>A | CA497677297 | CHRNE,GP1BA | c.135G>A (p.Leu45=) c.-888+1603C>T (n.-888+1603C>T) | |
| 17 | g.4932739G>C | CA497677301 | CHRNE,GP1BA | c.135G>C (p.Leu45=) c.-888+1603C>G (n.-888+1603C>G) | |
| 17 | g.4932739G>T | CA497677298 | CHRNE,GP1BA | c.135G>T (p.Leu45=) c.-888+1603C>A (n.-888+1603C>A) | |
| 17 | g.4932740C>A | CA397314573 | CHRNE,GP1BA | c.136C>A (p.Pro46Thr) c.-888+1602G>T (n.-888+1602G>T) | |
| 17 | g.4932740C>G | CA397314576 | CHRNE,GP1BA | c.136C>G (p.Pro46Ala) c.-888+1602G>C (n.-888+1602G>C) | |
| 17 | g.4932740C>T | CA397314585 | CHRNE,GP1BA | c.136C>T (p.Pro46Ser) c.-888+1602G>A (n.-888+1602G>A) | |
| 17 | g.4932741C>A | CA287215708 | CHRNE,GP1BA | c.137C>A (p.Pro46Gln) c.-888+1601G>T (n.-888+1601G>T) | dbSNP gnomAD v4 |
| 17 | g.4932741C= | CA2244625275 | CHRNE,GP1BA | c.137C= (p.Pro46=) c.-888+1601G= (n.-888+1601G=) | |
| 17 | g.4932741C>G | CA8314702 | CHRNE,GP1BA | c.137C>G (p.Pro46Arg) c.-888+1601G>C (n.-888+1601G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932741C>T | CA8314703 | CHRNE,GP1BA | c.137C>T (p.Pro46Leu) c.-888+1601G>A (n.-888+1601G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932742G>A | CA8314704 | CHRNE,GP1BA | c.138G>A (p.Pro46=) c.-888+1600C>T (n.-888+1600C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932742G>C | CA497677305 | CHRNE,GP1BA | c.138G>C (p.Pro46=) c.-888+1600C>G (n.-888+1600C>G) | |
| 17 | g.4932742G= | CA2244625276 | CHRNE,GP1BA | c.138G= (p.Pro46=) c.-888+1600C= (n.-888+1600C=) | |
| 17 | g.4932742G>T | CA497677306 | CHRNE,GP1BA | c.138G>T (p.Pro46=) c.-888+1600C>A (n.-888+1600C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932743A>C | CA397314602 | CHRNE,GP1BA | c.139A>C (p.Lys47Gln) c.-888+1599T>G (n.-888+1599T>G) | |
| 17 | g.4932743A>G | CA397314596 | CHRNE,GP1BA | c.139A>G (p.Lys47Glu) c.-888+1599T>C (n.-888+1599T>C) | gnomAD v4 |
| 17 | g.4932743A>T | CA397314599 | CHRNE,GP1BA | c.139A>T (p.Lys47Ter) c.-888+1599T>A (n.-888+1599T>A) | |
| 17 | g.4932744A>C | CA397314605 | CHRNE,GP1BA | c.140A>C (p.Lys47Thr) c.-888+1598T>G (n.-888+1598T>G) | |
| 17 | g.4932744A>G | CA397314608 | CHRNE,GP1BA | c.140A>G (p.Lys47Arg) c.-888+1598T>C (n.-888+1598T>C) | |
| 17 | g.4932744A>T | CA397314612 | CHRNE,GP1BA | c.140A>T (p.Lys47Ile) c.-888+1598T>A (n.-888+1598T>A) | |
| 17 | g.4932745A>C | CA397314613 | CHRNE,GP1BA | c.141A>C (p.Lys47Asn) c.-888+1597T>G (n.-888+1597T>G) | |
| 17 | g.4932745A>G | CA497677310 | CHRNE,GP1BA | c.141A>G (p.Lys47=) c.-888+1597T>C (n.-888+1597T>C) | |
| 17 | g.4932745A>T | CA397314615 | CHRNE,GP1BA | c.141A>T (p.Lys47Asn) c.-888+1597T>A (n.-888+1597T>A) | |
| 17 | g.4932746G>A | CA397314617 | CHRNE,GP1BA | c.142G>A (p.Asp48Asn) c.-888+1596C>T (n.-888+1596C>T) | |
| 17 | g.4932746G>C | CA397314621 | CHRNE,GP1BA | c.142G>C (p.Asp48His) c.-888+1596C>G (n.-888+1596C>G) | |
| 17 | g.4932746G>T | CA397314618 | CHRNE,GP1BA | c.142G>T (p.Asp48Tyr) c.-888+1596C>A (n.-888+1596C>A) | |
| 17 | g.4932747A>C | CA397314622 | CHRNE,GP1BA | c.143A>C (p.Asp48Ala) c.-888+1595T>G (n.-888+1595T>G) | |
| 17 | g.4932747A>G | CA397314625 | CHRNE,GP1BA | c.143A>G (p.Asp48Gly) c.-888+1595T>C (n.-888+1595T>C) | |
| 17 | g.4932747A>T | CA397314626 | CHRNE,GP1BA | c.143A>T (p.Asp48Val) c.-888+1595T>A (n.-888+1595T>A) | |
| 17 | g.4932748C>A | CA397314627 | CHRNE,GP1BA | c.144C>A (p.Asp48Glu) c.-888+1594G>T (n.-888+1594G>T) | |
| 17 | g.4932748C= | CA2244625277 | CHRNE,GP1BA | c.144C= (p.Asp48=) c.-888+1594G= (n.-888+1594G=) | |
| 17 | g.4932748C>G | CA287215716 | CHRNE,GP1BA | c.144C>G (p.Asp48Glu) c.-888+1594G>C (n.-888+1594G>C) | dbSNP gnomAD v4 |
| 17 | g.4932748C>T | CA497677314 | CHRNE,GP1BA | c.144C>T (p.Asp48=) c.-888+1594G>A (n.-888+1594G>A) | |
| 17 | g.4932749A= | CA2244625278 | CHRNE,GP1BA | c.145A= (p.Thr49=) c.-888+1593T= (n.-888+1593T=) | |
| 17 | g.4932749A>C | CA397314631 | CHRNE,GP1BA | c.145A>C (p.Thr49Pro) c.-888+1593T>G (n.-888+1593T>G) | |
| 17 | g.4932749A>G | CA397314633 | CHRNE,GP1BA | c.145A>G (p.Thr49Ala) c.-888+1593T>C (n.-888+1593T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932749A>T | CA397314634 | CHRNE,GP1BA | c.145A>T (p.Thr49Ser) c.-888+1593T>A (n.-888+1593T>A) | |
| 17 | g.4932750C>A | CA397314637 | CHRNE,GP1BA | c.146C>A (p.Thr49Lys) c.-888+1592G>T (n.-888+1592G>T) | |
| 17 | g.4932750C= | CA2244625279 | CHRNE,GP1BA | c.146C= (p.Thr49=) c.-888+1592G= (n.-888+1592G=) | |
| 17 | g.4932750C>G | CA397314639 | CHRNE,GP1BA | c.146C>G (p.Thr49Arg) c.-888+1592G>C (n.-888+1592G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932750C>T | CA397314641 | CHRNE,GP1BA | c.146C>T (p.Thr49Ile) c.-888+1592G>A (n.-888+1592G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932751A>C | CA497677316 | CHRNE,GP1BA | c.147A>C (p.Thr49=) c.-888+1591T>G (n.-888+1591T>G) | |
| 17 | g.4932751A>G | CA497677318 | CHRNE,GP1BA | c.147A>G (p.Thr49=) c.-888+1591T>C (n.-888+1591T>C) | |
| 17 | g.4932751A>T | CA497677320 | CHRNE,GP1BA | c.147A>T (p.Thr49=) c.-888+1591T>A (n.-888+1591T>A) | |
| 17 | g.4932751_4932753delinsAAC | CA2244625280 | CHRNE,GP1BA | c.147_149delinsAAC (p.Thr49=) c.-888+1589_-888+1591delinsGTT (n.-888+1589_-888+1591delinsGTT) | |
| 17 | g.4932752A= | CA2244625281 | CHRNE,GP1BA | c.148A= (p.Thr50=) c.-888+1590T= (n.-888+1590T=) | |
| 17 | g.4932752A>C | CA397314643 | CHRNE,GP1BA | c.148A>C (p.Thr50Pro) c.-888+1590T>G (n.-888+1590T>G) | |
| 17 | g.4932752A>G | CA397314648 | CHRNE,GP1BA | c.148A>G (p.Thr50Ala) c.-888+1590T>C (n.-888+1590T>C) | dbSNP |
| 17 | g.4932752A>T | CA397314645 | CHRNE,GP1BA | c.148A>T (p.Thr50Ser) c.-888+1590T>A (n.-888+1590T>A) | |
| 17 | g.4932752_4932753del | CA915949477 | CHRNE,GP1BA | c.148_149del (p.Thr50HisfsTer6) c.-888+1589_-888+1590del (n.-888+1589_-888+1590del) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4932753C>A | CA397314651 | CHRNE,GP1BA | c.149C>A (p.Thr50Asn) c.-888+1589G>T (n.-888+1589G>T) | dbSNP COSMIC |
| 17 | g.4932753C= | CA2244625282 | CHRNE,GP1BA | c.149C= (p.Thr50=) c.-888+1589G= (n.-888+1589G=) | |
| 17 | g.4932753C>G | CA397314653 | CHRNE,GP1BA | c.149C>G (p.Thr50Ser) c.-888+1589G>C (n.-888+1589G>C) | |
| 17 | g.4932753C>T | CA8314705 | CHRNE,GP1BA | c.149C>T (p.Thr50Ile) c.-888+1589G>A (n.-888+1589G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932754C>A | CA497677322 | CHRNE,GP1BA | c.150C>A (p.Thr50=) c.-888+1588G>T (n.-888+1588G>T) | |
| 17 | g.4932754C>G | CA497677324 | CHRNE,GP1BA | c.150C>G (p.Thr50=) c.-888+1588G>C (n.-888+1588G>C) | |
| 17 | g.4932754C>T | CA497677325 | CHRNE,GP1BA | c.150C>T (p.Thr50=) c.-888+1588G>A (n.-888+1588G>A) | gnomAD v4 |
| 17 | g.4932755A>C | CA397314658 | CHRNE,GP1BA | c.151A>C (p.Ile51Leu) c.-888+1587T>G (n.-888+1587T>G) | |
| 17 | g.4932755A>G | CA397314659 | CHRNE,GP1BA | c.151A>G (p.Ile51Val) c.-888+1587T>C (n.-888+1587T>C) | |
| 17 | g.4932755A>T | CA397314661 | CHRNE,GP1BA | c.151A>T (p.Ile51Phe) c.-888+1587T>A (n.-888+1587T>A) | |
| 17 | g.4932756T>A | CA397314664 | CHRNE,GP1BA | c.152T>A (p.Ile51Asn) c.-888+1586A>T (n.-888+1586A>T) | |
| 17 | g.4932756T>C | CA397314667 | CHRNE,GP1BA | c.152T>C (p.Ile51Thr) c.-888+1586A>G (n.-888+1586A>G) | |
| 17 | g.4932756T>G | CA397314668 | CHRNE,GP1BA | c.152T>G (p.Ile51Ser) c.-888+1586A>C (n.-888+1586A>C) | |
| 17 | g.4932757C>A | CA497677329 | CHRNE,GP1BA | c.153C>A (p.Ile51=) c.-888+1585G>T (n.-888+1585G>T) | |
| 17 | g.4932757C>G | CA397314671 | CHRNE,GP1BA | c.153C>G (p.Ile51Met) c.-888+1585G>C (n.-888+1585G>C) | |
| 17 | g.4932757C>T | CA497677331 | CHRNE,GP1BA | c.153C>T (p.Ile51=) c.-888+1585G>A (n.-888+1585G>A) | COSMIC |
| 17 | g.4932758dup | CA2695224137 | CHRNE,GP1BA | c.154dup (p.Leu52ProfsTer5) c.-888+1585dup (n.-888+1585dup) | |
| 17 | g.4932758C>A | CA397314686 | CHRNE,GP1BA | c.154C>A (p.Leu52Ile) c.-888+1584G>T (n.-888+1584G>T) | |
| 17 | g.4932758C>G | CA397314690 | CHRNE,GP1BA | c.154C>G (p.Leu52Val) c.-888+1584G>C (n.-888+1584G>C) | gnomAD v4 |
| 17 | g.4932758C>T | CA397314692 | CHRNE,GP1BA | c.154C>T (p.Leu52Phe) c.-888+1584G>A (n.-888+1584G>A) | |
| 17 | g.4932759T>A | CA397314697 | CHRNE,GP1BA | c.155T>A (p.Leu52His) c.-888+1583A>T (n.-888+1583A>T) | |
| 17 | g.4932759T>C | CA397314702 | CHRNE,GP1BA | c.155T>C (p.Leu52Pro) c.-888+1583A>G (n.-888+1583A>G) | |
| 17 | g.4932759T>G | CA397314700 | CHRNE,GP1BA | c.155T>G (p.Leu52Arg) c.-888+1583A>C (n.-888+1583A>C) | |
| 17 | g.4932760C>A | CA497677337 | CHRNE,GP1BA | c.156C>A (p.Leu52=) c.-888+1582G>T (n.-888+1582G>T) | |
| 17 | g.4932760C= | CA2244625283 | CHRNE,GP1BA | c.156C= (p.Leu52=) c.-888+1582G= (n.-888+1582G=) | |
| 17 | g.4932760C>G | CA497677335 | CHRNE,GP1BA | c.156C>G (p.Leu52=) c.-888+1582G>C (n.-888+1582G>C) | dbSNP gnomAD v4 |
| 17 | g.4932760C>T | CA497677336 | CHRNE,GP1BA | c.156C>T (p.Leu52=) c.-888+1582G>A (n.-888+1582G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932761C>A | CA397314705 | CHRNE,GP1BA | c.157C>A (p.His53Asn) c.-888+1581G>T (n.-888+1581G>T) | COSMIC |
| 17 | g.4932761C>G | CA397314708 | CHRNE,GP1BA | c.157C>G (p.His53Asp) c.-888+1581G>C (n.-888+1581G>C) | |
| 17 | g.4932761C>T | CA397314711 | CHRNE,GP1BA | c.157C>T (p.His53Tyr) c.-888+1581G>A (n.-888+1581G>A) | |
| 17 | g.4932762A>C | CA397314716 | CHRNE,GP1BA | c.158A>C (p.His53Pro) c.-888+1580T>G (n.-888+1580T>G) | |
| 17 | g.4932762A>G | CA397314718 | CHRNE,GP1BA | c.158A>G (p.His53Arg) c.-888+1580T>C (n.-888+1580T>C) | |
| 17 | g.4932762A>T | CA397314722 | CHRNE,GP1BA | c.158A>T (p.His53Leu) c.-888+1580T>A (n.-888+1580T>A) | |
| 17 | g.4932763C>A | CA397314725 | CHRNE,GP1BA | c.159C>A (p.His53Gln) c.-888+1579G>T (n.-888+1579G>T) | |
| 17 | g.4932763C= | CA2244625284 | CHRNE,GP1BA | c.159C= (p.His53=) c.-888+1579G= (n.-888+1579G=) | |
| 17 | g.4932763C>G | CA397314726 | CHRNE,GP1BA | c.159C>G (p.His53Gln) c.-888+1579G>C (n.-888+1579G>C) | |
| 17 | g.4932763C>T | CA497677341 | CHRNE,GP1BA | c.159C>T (p.His53=) c.-888+1579G>A (n.-888+1579G>A) | dbSNP gnomAD v4 |
| 17 | g.4932764C>A | CA397314727 | CHRNE,GP1BA | c.160C>A (p.Leu54Met) c.-888+1578G>T (n.-888+1578G>T) | |
| 17 | g.4932764C= | CA2244625285 | CHRNE,GP1BA | c.160C= (p.Leu54=) c.-888+1578G= (n.-888+1578G=) | |
| 17 | g.4932764C>G | CA397314728 | CHRNE,GP1BA | c.160C>G (p.Leu54Val) c.-888+1578G>C (n.-888+1578G>C) | |
| 17 | g.4932764C>T | CA287215717 | CHRNE,GP1BA | c.160C>T (p.Leu54=) c.-888+1578G>A (n.-888+1578G>A) | dbSNP |
| 17 | g.4932765T>A | CA397314735 | CHRNE,GP1BA | c.161T>A (p.Leu54Gln) c.-888+1577A>T (n.-888+1577A>T) | |
| 17 | g.4932765T>C | CA8314706 | CHRNE,GP1BA | c.161T>C (p.Leu54Pro) c.-888+1577A>G (n.-888+1577A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932765T>G | CA397314731 | CHRNE,GP1BA | c.161T>G (p.Leu54Arg) c.-888+1577A>C (n.-888+1577A>C) | |
| 17 | g.4932765T= | CA2244625286 | CHRNE,GP1BA | c.161T= (p.Leu54=) c.-888+1577A= (n.-888+1577A=) | |
| 17 | g.4932769_4932772del | CA658820730 | CHRNE,GP1BA | c.165_168del (p.Ser55ArgfsTer12) c.-888+1574_-888+1577del (n.-888+1574_-888+1577del) | ClinVar dbSNP |
| 17 | g.4932766G>A | CA497677345 | CHRNE,GP1BA | c.162G>A (p.Leu54=) c.-888+1576C>T (n.-888+1576C>T) | |
| 17 | g.4932766G>C | CA497677348 | CHRNE,GP1BA | c.162G>C (p.Leu54=) c.-888+1576C>G (n.-888+1576C>G) | gnomAD v4 |
| 17 | g.4932766G>T | CA497677346 | CHRNE,GP1BA | c.162G>T (p.Leu54=) c.-888+1576C>A (n.-888+1576C>A) | |
| 17 | g.4932768_4932773del | CA2580611764 | CHRNE,GP1BA | c.164_169del (p.Ser55_Glu56del) c.-888+1571_-888+1576del (n.-888+1571_-888+1576del) | |
| 17 | g.4932767A= | CA2244625287 | CHRNE,GP1BA | c.163A= (p.Ser55=) c.-888+1575T= (n.-888+1575T=) | |
| 17 | g.4932767A>C | CA397314742 | CHRNE,GP1BA | c.163A>C (p.Ser55Arg) c.-888+1575T>G (n.-888+1575T>G) | |
| 17 | g.4932767A>G | CA397314737 | CHRNE,GP1BA | c.163A>G (p.Ser55Gly) c.-888+1575T>C (n.-888+1575T>C) | dbSNP gnomAD v2 |
| 17 | g.4932767A>T | CA397314740 | CHRNE,GP1BA | c.163A>T (p.Ser55Cys) c.-888+1575T>A (n.-888+1575T>A) | |
| 17 | g.4932768G>A | CA397314755 | CHRNE,GP1BA | c.164G>A (p.Ser55Asn) c.-888+1574C>T (n.-888+1574C>T) | dbSNP gnomAD v4 |
| 17 | g.4932768G>C | CA397314756 | CHRNE,GP1BA | c.164G>C (p.Ser55Thr) c.-888+1574C>G (n.-888+1574C>G) | gnomAD v4 |
| 17 | g.4932768G= | CA2244625288 | CHRNE,GP1BA | c.164G= (p.Ser55=) c.-888+1574C= (n.-888+1574C=) | |
| 17 | g.4932768G>T | CA397314758 | CHRNE,GP1BA | c.164G>T (p.Ser55Ile) c.-888+1574C>A (n.-888+1574C>A) | |
| 17 | g.4932769T>A | CA397314764 | CHRNE,GP1BA | c.165T>A (p.Ser55Arg) c.-888+1573A>T (n.-888+1573A>T) | gnomAD v4 |
| 17 | g.4932769T>C | CA497677351 | CHRNE,GP1BA | c.165T>C (p.Ser55=) c.-888+1573A>G (n.-888+1573A>G) | gnomAD v4 |
| 17 | g.4932769T>G | CA397314767 | CHRNE,GP1BA | c.165T>G (p.Ser55Arg) c.-888+1573A>C (n.-888+1573A>C) | gnomAD v4 COSMIC |
| 17 | g.4932770G>A | CA397314770 | CHRNE,GP1BA | c.166G>A (p.Glu56Lys) c.-888+1572C>T (n.-888+1572C>T) | dbSNP gnomAD v4 |
| 17 | g.4932770G>C | CA397314772 | CHRNE,GP1BA | c.166G>C (p.Glu56Gln) c.-888+1572C>G (n.-888+1572C>G) | |
| 17 | g.4932770G= | CA2244625289 | CHRNE,GP1BA | c.166G= (p.Glu56=) c.-888+1572C= (n.-888+1572C=) | |
| 17 | g.4932770G>T | CA397314776 | CHRNE,GP1BA | c.166G>T (p.Glu56Ter) c.-888+1572C>A (n.-888+1572C>A) | |
| 17 | g.4932771A>C | CA397314780 | CHRNE,GP1BA | c.167A>C (p.Glu56Ala) c.-888+1571T>G (n.-888+1571T>G) | |
| 17 | g.4932771A>G | CA397314783 | CHRNE,GP1BA | c.167A>G (p.Glu56Gly) c.-888+1571T>C (n.-888+1571T>C) | |
| 17 | g.4932771A>T | CA397314806 | CHRNE,GP1BA | c.167A>T (p.Glu56Val) c.-888+1571T>A (n.-888+1571T>A) | |
| 17 | g.4932772G>A | CA497677353 | CHRNE,GP1BA | c.168G>A (p.Glu56=) c.-888+1570C>T (n.-888+1570C>T) | dbSNP |
| 17 | g.4932772G>C | CA397314812 | CHRNE,GP1BA | c.168G>C (p.Glu56Asp) c.-888+1570C>G (n.-888+1570C>G) | |
| 17 | g.4932772G= | CA2244625290 | CHRNE,GP1BA | c.168G= (p.Glu56=) c.-888+1570C= (n.-888+1570C=) | |
| 17 | g.4932772G>T | CA397314809 | CHRNE,GP1BA | c.168G>T (p.Glu56Asp) c.-888+1570C>A (n.-888+1570C>A) | |
| 17 | g.4932773A>C | CA397314821 | CHRNE,GP1BA | c.169A>C (p.Asn57His) c.-888+1569T>G (n.-888+1569T>G) | |
| 17 | g.4932773A>G | CA397314824 | CHRNE,GP1BA | c.169A>G (p.Asn57Asp) c.-888+1569T>C (n.-888+1569T>C) | ClinVar dbSNP |
| 17 | g.4932773A>T | CA397314833 | CHRNE,GP1BA | c.169A>T (p.Asn57Tyr) c.-888+1569T>A (n.-888+1569T>A) | |
| 17 | g.4932774A>C | CA397314836 | CHRNE,GP1BA | c.170A>C (p.Asn57Thr) c.-888+1568T>G (n.-888+1568T>G) | |
| 17 | g.4932774A>G | CA397314840 | CHRNE,GP1BA | c.170A>G (p.Asn57Ser) c.-888+1568T>C (n.-888+1568T>C) | |
| 17 | g.4932774A>T | CA397314843 | CHRNE,GP1BA | c.170A>T (p.Asn57Ile) c.-888+1568T>A (n.-888+1568T>A) | |
| 17 | g.4932775C>A | CA397314846 | CHRNE,GP1BA | c.171C>A (p.Asn57Lys) c.-888+1567G>T (n.-888+1567G>T) | ClinVar dbSNP |
| 17 | g.4932775C= | CA2244625291 | CHRNE,GP1BA | c.171C= (p.Asn57=) c.-888+1567G= (n.-888+1567G=) | |
| 17 | g.4932775C>G | CA397314850 | CHRNE,GP1BA | c.171C>G (p.Asn57Lys) c.-888+1567G>C (n.-888+1567G>C) | |
| 17 | g.4932775C>T | CA497677355 | CHRNE,GP1BA | c.171C>T (p.Asn57=) c.-888+1567G>A (n.-888+1567G>A) | |
| 17 | g.4932776C>A | CA397314851 | CHRNE,GP1BA | c.172C>A (p.Leu58Ile) c.-888+1566G>T (n.-888+1566G>T) | gnomAD v4 |
| 17 | g.4932776C= | CA2244625292 | CHRNE,GP1BA | c.172C= (p.Leu58=) c.-888+1566G= (n.-888+1566G=) | |
| 17 | g.4932776C>G | CA397314852 | CHRNE,GP1BA | c.172C>G (p.Leu58Val) c.-888+1566G>C (n.-888+1566G>C) | |
| 17 | g.4932776C>T | CA8314707 | CHRNE,GP1BA | c.172C>T (p.Leu58Phe) c.-888+1566G>A (n.-888+1566G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932777T>A | CA397314858 | CHRNE,GP1BA | c.173T>A (p.Leu58His) c.-888+1565A>T (n.-888+1565A>T) | |
| 17 | g.4932777T>C | CA397314859 | CHRNE,GP1BA | c.173T>C (p.Leu58Pro) c.-888+1565A>G (n.-888+1565A>G) | |
| 17 | g.4932777T>G | CA397314861 | CHRNE,GP1BA | c.173T>G (p.Leu58Arg) c.-888+1565A>C (n.-888+1565A>C) | |
| 17 | g.4932778C>A | CA497677359 | CHRNE,GP1BA | c.174C>A (p.Leu58=) c.-888+1564G>T (n.-888+1564G>T) | |
| 17 | g.4932778C= | CA2244625293 | CHRNE,GP1BA | c.174C= (p.Leu58=) c.-888+1564G= (n.-888+1564G=) | |
| 17 | g.4932778C>G | CA497677360 | CHRNE,GP1BA | c.174C>G (p.Leu58=) c.-888+1564G>C (n.-888+1564G>C) | |
| 17 | g.4932778C>T | CA8314708 | CHRNE,GP1BA | c.174C>T (p.Leu58=) c.-888+1564G>A (n.-888+1564G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932779C>A | CA397314867 | CHRNE,GP1BA | c.175C>A (p.Leu59Met) c.-888+1563G>T (n.-888+1563G>T) | |
| 17 | g.4932779C>G | CA397314866 | CHRNE,GP1BA | c.175C>G (p.Leu59Val) c.-888+1563G>C (n.-888+1563G>C) | |
| 17 | g.4932779C>T | CA497677362 | CHRNE,GP1BA | c.175C>T (p.Leu59=) c.-888+1563G>A (n.-888+1563G>A) |