Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.64130133C>ACA389979717ESR2,SYNE2c.14225C>A (p.Ala4742Asp)
c.1628C>A (p.Ala543Asp)
c.13976C>A (p.Ala4659Asp)
c.3380C>A (p.Ala1127Asp)
c.4127C>A (p.Ala1376Asp)
c.1407-45081G>T (n.1407-45081G>T)
c.14108C>A (p.Ala4703Asp)
c.11030C>A (p.Ala3677Asp)
c.14156C>A (p.Ala4719Asp)
n.14455C>A
 gnomAD v4
14g.64130133C=CA2142524443ESR2,SYNE2c.14225C= (p.Ala4742=)
c.1628C= (p.Ala543=)
c.13976C= (p.Ala4659=)
c.3380C= (p.Ala1127=)
c.4127C= (p.Ala1376=)
c.1407-45081G= (n.1407-45081G=)
c.14108C= (p.Ala4703=)
c.11030C= (p.Ala3677=)
c.14156C= (p.Ala4719=)
n.14455C=
14g.64130133C>GCA389979723ESR2,SYNE2c.14225C>G (p.Ala4742Gly)
c.1628C>G (p.Ala543Gly)
c.13976C>G (p.Ala4659Gly)
c.3380C>G (p.Ala1127Gly)
c.4127C>G (p.Ala1376Gly)
c.1407-45081G>C (n.1407-45081G>C)
c.14108C>G (p.Ala4703Gly)
c.11030C>G (p.Ala3677Gly)
c.14156C>G (p.Ala4719Gly)
n.14455C>G
14g.64130133C>TCA7222721ESR2,SYNE2c.14225C>T (p.Ala4742Val)
c.1628C>T (p.Ala543Val)
c.13976C>T (p.Ala4659Val)
c.3380C>T (p.Ala1127Val)
c.4127C>T (p.Ala1376Val)
c.1407-45081G>A (n.1407-45081G>A)
c.14108C>T (p.Ala4703Val)
c.11030C>T (p.Ala3677Val)
c.14156C>T (p.Ala4719Val)
n.14455C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64130134T>ACA486960917ESR2,SYNE2c.14226T>A (p.Ala4742=)
c.1629T>A (p.Ala543=)
c.13977T>A (p.Ala4659=)
c.3381T>A (p.Ala1127=)
c.4128T>A (p.Ala1376=)
c.1407-45082A>T (n.1407-45082A>T)
c.14109T>A (p.Ala4703=)
c.11031T>A (p.Ala3677=)
c.14157T>A (p.Ala4719=)
n.14456T>A
14g.64130134T>CCA7222722ESR2,SYNE2c.14226T>C (p.Ala4742=)
c.1629T>C (p.Ala543=)
c.13977T>C (p.Ala4659=)
c.3381T>C (p.Ala1127=)
c.4128T>C (p.Ala1376=)
c.1407-45082A>G (n.1407-45082A>G)
c.14109T>C (p.Ala4703=)
c.11031T>C (p.Ala3677=)
c.14157T>C (p.Ala4719=)
n.14456T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64130134T>GCA486960918ESR2,SYNE2c.14226T>G (p.Ala4742=)
c.1629T>G (p.Ala543=)
c.13977T>G (p.Ala4659=)
c.3381T>G (p.Ala1127=)
c.4128T>G (p.Ala1376=)
c.1407-45082A>C (n.1407-45082A>C)
c.14109T>G (p.Ala4703=)
c.11031T>G (p.Ala3677=)
c.14157T>G (p.Ala4719=)
n.14456T>G
14g.64130134T=CA2142524446ESR2,SYNE2c.14226T= (p.Ala4742=)
c.1629T= (p.Ala543=)
c.13977T= (p.Ala4659=)
c.3381T= (p.Ala1127=)
c.4128T= (p.Ala1376=)
c.1407-45082A= (n.1407-45082A=)
c.14109T= (p.Ala4703=)
c.11031T= (p.Ala3677=)
c.14157T= (p.Ala4719=)
n.14456T=
14g.64130135T>ACA389979732ESR2,SYNE2c.14227T>A (p.Leu4743Met)
c.1630T>A (p.Leu544Met)
c.13978T>A (p.Leu4660Met)
c.3382T>A (p.Leu1128Met)
c.4129T>A (p.Leu1377Met)
c.1407-45083A>T (n.1407-45083A>T)
c.14110T>A (p.Leu4704Met)
c.11032T>A (p.Leu3678Met)
c.14158T>A (p.Leu4720Met)
n.14457T>A
14g.64130135T>CCA7222723ESR2,SYNE2c.14227T>C (p.Leu4743=)
c.1630T>C (p.Leu544=)
c.13978T>C (p.Leu4660=)
c.3382T>C (p.Leu1128=)
c.4129T>C (p.Leu1377=)
c.1407-45083A>G (n.1407-45083A>G)
c.14110T>C (p.Leu4704=)
c.11032T>C (p.Leu3678=)
c.14158T>C (p.Leu4720=)
n.14457T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64130135T>GCA389979735ESR2,SYNE2c.14227T>G (p.Leu4743Val)
c.1630T>G (p.Leu544Val)
c.13978T>G (p.Leu4660Val)
c.3382T>G (p.Leu1128Val)
c.4129T>G (p.Leu1377Val)
c.1407-45083A>C (n.1407-45083A>C)
c.14110T>G (p.Leu4704Val)
c.11032T>G (p.Leu3678Val)
c.14158T>G (p.Leu4720Val)
n.14457T>G
 gnomAD v4
14g.64130135T=CA2142524449ESR2,SYNE2c.14227T= (p.Leu4743=)
c.1630T= (p.Leu544=)
c.13978T= (p.Leu4660=)
c.3382T= (p.Leu1128=)
c.4129T= (p.Leu1377=)
c.1407-45083A= (n.1407-45083A=)
c.14110T= (p.Leu4704=)
c.11032T= (p.Leu3678=)
c.14158T= (p.Leu4720=)
n.14457T=
14g.64130136T>ACA389979736ESR2,SYNE2c.14228T>A (p.Leu4743Ter)
c.1631T>A (p.Leu544Ter)
c.13979T>A (p.Leu4660Ter)
c.3383T>A (p.Leu1128Ter)
c.4130T>A (p.Leu1377Ter)
c.1407-45084A>T (n.1407-45084A>T)
c.14111T>A (p.Leu4704Ter)
c.11033T>A (p.Leu3678Ter)
c.14159T>A (p.Leu4720Ter)
n.14458T>A
14g.64130136T>CCA389979737ESR2,SYNE2c.14228T>C (p.Leu4743Ser)
c.1631T>C (p.Leu544Ser)
c.13979T>C (p.Leu4660Ser)
c.3383T>C (p.Leu1128Ser)
c.4130T>C (p.Leu1377Ser)
c.1407-45084A>G (n.1407-45084A>G)
c.14111T>C (p.Leu4704Ser)
c.11033T>C (p.Leu3678Ser)
c.14159T>C (p.Leu4720Ser)
n.14458T>C
14g.64130136T>GCA389979738ESR2,SYNE2c.14228T>G (p.Leu4743Trp)
c.1631T>G (p.Leu544Trp)
c.13979T>G (p.Leu4660Trp)
c.3383T>G (p.Leu1128Trp)
c.4130T>G (p.Leu1377Trp)
c.1407-45084A>C (n.1407-45084A>C)
c.14111T>G (p.Leu4704Trp)
c.11033T>G (p.Leu3678Trp)
c.14159T>G (p.Leu4720Trp)
n.14458T>G
14g.64130137G>ACA486960919ESR2,SYNE2c.14229G>A (p.Leu4743=)
c.1632G>A (p.Leu544=)
c.13980G>A (p.Leu4660=)
c.3384G>A (p.Leu1128=)
c.4131G>A (p.Leu1377=)
c.1407-45085C>T (n.1407-45085C>T)
c.14112G>A (p.Leu4704=)
c.11034G>A (p.Leu3678=)
c.14160G>A (p.Leu4720=)
n.14459G>A
 gnomAD v4
14g.64130137G>CCA389979741ESR2,SYNE2c.14229G>C (p.Leu4743Phe)
c.1632G>C (p.Leu544Phe)
c.13980G>C (p.Leu4660Phe)
c.3384G>C (p.Leu1128Phe)
c.4131G>C (p.Leu1377Phe)
c.1407-45085C>G (n.1407-45085C>G)
c.14112G>C (p.Leu4704Phe)
c.11034G>C (p.Leu3678Phe)
c.14160G>C (p.Leu4720Phe)
n.14459G>C
 ClinVar
14g.64130137G=CA2142524455ESR2,SYNE2c.14229G= (p.Leu4743=)
c.1632G= (p.Leu544=)
c.13980G= (p.Leu4660=)
c.3384G= (p.Leu1128=)
c.4131G= (p.Leu1377=)
c.1407-45085C= (n.1407-45085C=)
c.14112G= (p.Leu4704=)
c.11034G= (p.Leu3678=)
c.14160G= (p.Leu4720=)
n.14459G=
14g.64130137G>TCA7222724ESR2,SYNE2c.14229G>T (p.Leu4743Phe)
c.1632G>T (p.Leu544Phe)
c.13980G>T (p.Leu4660Phe)
c.3384G>T (p.Leu1128Phe)
c.4131G>T (p.Leu1377Phe)
c.1407-45085C>A (n.1407-45085C>A)
c.14112G>T (p.Leu4704Phe)
c.11034G>T (p.Leu3678Phe)
c.14160G>T (p.Leu4720Phe)
n.14459G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.64130138T>ACA389979746ESR2,SYNE2c.14230T>A (p.Leu4744Met)
c.1633T>A (p.Leu545Met)
c.13981T>A (p.Leu4661Met)
c.3385T>A (p.Leu1129Met)
c.4132T>A (p.Leu1378Met)
c.1407-45086A>T (n.1407-45086A>T)
c.14113T>A (p.Leu4705Met)
c.11035T>A (p.Leu3679Met)
c.14161T>A (p.Leu4721Met)
n.14460T>A
14g.64130138T>CCA486960920ESR2,SYNE2c.14230T>C (p.Leu4744=)
c.1633T>C (p.Leu545=)
c.13981T>C (p.Leu4661=)
c.3385T>C (p.Leu1129=)
c.4132T>C (p.Leu1378=)
c.1407-45086A>G (n.1407-45086A>G)
c.14113T>C (p.Leu4705=)
c.11035T>C (p.Leu3679=)
c.14161T>C (p.Leu4721=)
n.14460T>C
 dbSNP
14g.64130138T>GCA389979749ESR2,SYNE2c.14230T>G (p.Leu4744Val)
c.1633T>G (p.Leu545Val)
c.13981T>G (p.Leu4661Val)
c.3385T>G (p.Leu1129Val)
c.4132T>G (p.Leu1378Val)
c.1407-45086A>C (n.1407-45086A>C)
c.14113T>G (p.Leu4705Val)
c.11035T>G (p.Leu3679Val)
c.14161T>G (p.Leu4721Val)
n.14460T>G
14g.64130138T=CA2142524463ESR2,SYNE2c.14230T= (p.Leu4744=)
c.1633T= (p.Leu545=)
c.13981T= (p.Leu4661=)
c.3385T= (p.Leu1129=)
c.4132T= (p.Leu1378=)
c.1407-45086A= (n.1407-45086A=)
c.14113T= (p.Leu4705=)
c.11035T= (p.Leu3679=)
c.14161T= (p.Leu4721=)
n.14460T=
14g.64130138_64130147delinsTTGCAAGGCACA2142524461ESR2,SYNE2c.14230_14239delinsTTGCAAGGCA (p.Leu4744=)
c.1633_1642delinsTTGCAAGGCA (p.Leu545=)
c.13981_13990delinsTTGCAAGGCA (p.Leu4661=)
c.3385_3394delinsTTGCAAGGCA (p.Leu1129=)
c.4132_4141delinsTTGCAAGGCA (p.Leu1378=)
c.1407-45095_1407-45086delinsTGCCTTGCAA (n.1407-45095_1407-45086delinsTGCCTTGCAA)
c.14113_14122delinsTTGCAAGGCA (p.Leu4705=)
c.11035_11044delinsTTGCAAGGCA (p.Leu3679=)
c.14161_14170delinsTTGCAAGGCA (p.Leu4721=)
n.14460_14469delinsTTGCAAGGCA
14g.64130139T>ACA389979751ESR2,SYNE2c.14231T>A (p.Leu4744Ter)
c.1634T>A (p.Leu545Ter)
c.13982T>A (p.Leu4661Ter)
c.3386T>A (p.Leu1129Ter)
c.4133T>A (p.Leu1378Ter)
c.1407-45087A>T (n.1407-45087A>T)
c.14114T>A (p.Leu4705Ter)
c.11036T>A (p.Leu3679Ter)
c.14162T>A (p.Leu4721Ter)
n.14461T>A
14g.64130139T>CCA389979759ESR2,SYNE2c.14231T>C (p.Leu4744Ser)
c.1634T>C (p.Leu545Ser)
c.13982T>C (p.Leu4661Ser)
c.3386T>C (p.Leu1129Ser)
c.4133T>C (p.Leu1378Ser)
c.1407-45087A>G (n.1407-45087A>G)
c.14114T>C (p.Leu4705Ser)
c.11036T>C (p.Leu3679Ser)
c.14162T>C (p.Leu4721Ser)
n.14461T>C
14g.64130139T>GCA389979765ESR2,SYNE2c.14231T>G (p.Leu4744Trp)
c.1634T>G (p.Leu545Trp)
c.13982T>G (p.Leu4661Trp)
c.3386T>G (p.Leu1129Trp)
c.4133T>G (p.Leu1378Trp)
c.1407-45087A>C (n.1407-45087A>C)
c.14114T>G (p.Leu4705Trp)
c.11036T>G (p.Leu3679Trp)
c.14162T>G (p.Leu4721Trp)
n.14461T>G
14g.64130141_64130149delCA707635874ESR2,SYNE2c.14233_14241del (p.Gln4745_Met4747del)
c.1636_1644del (p.Gln546_Met548del)
c.13984_13992del (p.Gln4662_Met4664del)
c.3388_3396del (p.Gln1130_Met1132del)
c.4135_4143del (p.Gln1379_Met1381del)
c.1407-45095_1407-45087del (n.1407-45095_1407-45087del)
c.14116_14124del (p.Gln4706_Met4708del)
c.11038_11046del (p.Gln3680_Met3682del)
c.14164_14172del (p.Gln4722_Met4724del)
n.14463_14471del
 dbSNP gnomAD v3 gnomAD v4
14g.64130140G>ACA486960921ESR2,SYNE2c.14232G>A (p.Leu4744=)
c.1635G>A (p.Leu545=)
c.13983G>A (p.Leu4661=)
c.3387G>A (p.Leu1129=)
c.4134G>A (p.Leu1378=)
c.1407-45088C>T (n.1407-45088C>T)
c.14115G>A (p.Leu4705=)
c.11037G>A (p.Leu3679=)
c.14163G>A (p.Leu4721=)
n.14462G>A
14g.64130140G>CCA389979767ESR2,SYNE2c.14232G>C (p.Leu4744Phe)
c.1635G>C (p.Leu545Phe)
c.13983G>C (p.Leu4661Phe)
c.3387G>C (p.Leu1129Phe)
c.4134G>C (p.Leu1378Phe)
c.1407-45088C>G (n.1407-45088C>G)
c.14115G>C (p.Leu4705Phe)
c.11037G>C (p.Leu3679Phe)
c.14163G>C (p.Leu4721Phe)
n.14462G>C
14g.64130140G>TCA389979771ESR2,SYNE2c.14232G>T (p.Leu4744Phe)
c.1635G>T (p.Leu545Phe)
c.13983G>T (p.Leu4661Phe)
c.3387G>T (p.Leu1129Phe)
c.4134G>T (p.Leu1378Phe)
c.1407-45088C>A (n.1407-45088C>A)
c.14115G>T (p.Leu4705Phe)
c.11037G>T (p.Leu3679Phe)
c.14163G>T (p.Leu4721Phe)
n.14462G>T
14g.64130141C>ACA389979775ESR2,SYNE2c.14233C>A (p.Gln4745Lys)
c.1636C>A (p.Gln546Lys)
c.13984C>A (p.Gln4662Lys)
c.3388C>A (p.Gln1130Lys)
c.4135C>A (p.Gln1379Lys)
c.1407-45089G>T (n.1407-45089G>T)
c.14116C>A (p.Gln4706Lys)
c.11038C>A (p.Gln3680Lys)
c.14164C>A (p.Gln4722Lys)
n.14463C>A
14g.64130141C>GCA389979780ESR2,SYNE2c.14233C>G (p.Gln4745Glu)
c.1636C>G (p.Gln546Glu)
c.13984C>G (p.Gln4662Glu)
c.3388C>G (p.Gln1130Glu)
c.4135C>G (p.Gln1379Glu)
c.1407-45089G>C (n.1407-45089G>C)
c.14116C>G (p.Gln4706Glu)
c.11038C>G (p.Gln3680Glu)
c.14164C>G (p.Gln4722Glu)
n.14463C>G
14g.64130141C>TCA389979777ESR2,SYNE2c.14233C>T (p.Gln4745Ter)
c.1636C>T (p.Gln546Ter)
c.13984C>T (p.Gln4662Ter)
c.3388C>T (p.Gln1130Ter)
c.4135C>T (p.Gln1379Ter)
c.1407-45089G>A (n.1407-45089G>A)
c.14116C>T (p.Gln4706Ter)
c.11038C>T (p.Gln3680Ter)
c.14164C>T (p.Gln4722Ter)
n.14463C>T
 gnomAD v4
14g.64130142A=CA2142524469ESR2,SYNE2c.14234A= (p.Gln4745=)
c.1637A= (p.Gln546=)
c.13985A= (p.Gln4662=)
c.3389A= (p.Gln1130=)
c.4136A= (p.Gln1379=)
c.1407-45090T= (n.1407-45090T=)
c.14117A= (p.Gln4706=)
c.11039A= (p.Gln3680=)
c.14165A= (p.Gln4722=)
n.14464A=
14g.64130142A>CCA389979783ESR2,SYNE2c.14234A>C (p.Gln4745Pro)
c.1637A>C (p.Gln546Pro)
c.13985A>C (p.Gln4662Pro)
c.3389A>C (p.Gln1130Pro)
c.4136A>C (p.Gln1379Pro)
c.1407-45090T>G (n.1407-45090T>G)
c.14117A>C (p.Gln4706Pro)
c.11039A>C (p.Gln3680Pro)
c.14165A>C (p.Gln4722Pro)
n.14464A>C
 dbSNP
14g.64130142A>GCA389979787ESR2,SYNE2c.14234A>G (p.Gln4745Arg)
c.1637A>G (p.Gln546Arg)
c.13985A>G (p.Gln4662Arg)
c.3389A>G (p.Gln1130Arg)
c.4136A>G (p.Gln1379Arg)
c.1407-45090T>C (n.1407-45090T>C)
c.14117A>G (p.Gln4706Arg)
c.11039A>G (p.Gln3680Arg)
c.14165A>G (p.Gln4722Arg)
n.14464A>G
14g.64130142A>TCA389979789ESR2,SYNE2c.14234A>T (p.Gln4745Leu)
c.1637A>T (p.Gln546Leu)
c.13985A>T (p.Gln4662Leu)
c.3389A>T (p.Gln1130Leu)
c.4136A>T (p.Gln1379Leu)
c.1407-45090T>A (n.1407-45090T>A)
c.14117A>T (p.Gln4706Leu)
c.11039A>T (p.Gln3680Leu)
c.14165A>T (p.Gln4722Leu)
n.14464A>T
14g.64130143A=CA2142524472ESR2,SYNE2c.14235A= (p.Gln4745=)
c.1638A= (p.Gln546=)
c.13986A= (p.Gln4662=)
c.3390A= (p.Gln1130=)
c.4137A= (p.Gln1379=)
c.1407-45091T= (n.1407-45091T=)
c.14118A= (p.Gln4706=)
c.11040A= (p.Gln3680=)
c.14166A= (p.Gln4722=)
n.14465A=
14g.64130143A>CCA389979792ESR2,SYNE2c.14235A>C (p.Gln4745His)
c.1638A>C (p.Gln546His)
c.13986A>C (p.Gln4662His)
c.3390A>C (p.Gln1130His)
c.4137A>C (p.Gln1379His)
c.1407-45091T>G (n.1407-45091T>G)
c.14118A>C (p.Gln4706His)
c.11040A>C (p.Gln3680His)
c.14166A>C (p.Gln4722His)
n.14465A>C
14g.64130143A>GCA486960922ESR2,SYNE2c.14235A>G (p.Gln4745=)
c.1638A>G (p.Gln546=)
c.13986A>G (p.Gln4662=)
c.3390A>G (p.Gln1130=)
c.4137A>G (p.Gln1379=)
c.1407-45091T>C (n.1407-45091T>C)
c.14118A>G (p.Gln4706=)
c.11040A>G (p.Gln3680=)
c.14166A>G (p.Gln4722=)
n.14465A>G
 gnomAD v4
14g.64130143A>TCA389979795ESR2,SYNE2c.14235A>T (p.Gln4745His)
c.1638A>T (p.Gln546His)
c.13986A>T (p.Gln4662His)
c.3390A>T (p.Gln1130His)
c.4137A>T (p.Gln1379His)
c.1407-45091T>A (n.1407-45091T>A)
c.14118A>T (p.Gln4706His)
c.11040A>T (p.Gln3680His)
c.14166A>T (p.Gln4722His)
n.14465A>T
 dbSNP gnomAD v2 gnomAD v4
14g.64130144G>ACA389979812ESR2,SYNE2c.14236G>A (p.Gly4746Ser)
c.1639G>A (p.Gly547Ser)
c.13987G>A (p.Gly4663Ser)
c.3391G>A (p.Gly1131Ser)
c.4138G>A (p.Gly1380Ser)
c.1407-45092C>T (n.1407-45092C>T)
c.14119G>A (p.Gly4707Ser)
c.11041G>A (p.Gly3681Ser)
c.14167G>A (p.Gly4723Ser)
n.14466G>A
 dbSNP
14g.64130144G>CCA389979810ESR2,SYNE2c.14236G>C (p.Gly4746Arg)
c.1639G>C (p.Gly547Arg)
c.13987G>C (p.Gly4663Arg)
c.3391G>C (p.Gly1131Arg)
c.4138G>C (p.Gly1380Arg)
c.1407-45092C>G (n.1407-45092C>G)
c.14119G>C (p.Gly4707Arg)
c.11041G>C (p.Gly3681Arg)
c.14167G>C (p.Gly4723Arg)
n.14466G>C
14g.64130144G=CA2142524474ESR2,SYNE2c.14236G= (p.Gly4746=)
c.1639G= (p.Gly547=)
c.13987G= (p.Gly4663=)
c.3391G= (p.Gly1131=)
c.4138G= (p.Gly1380=)
c.1407-45092C= (n.1407-45092C=)
c.14119G= (p.Gly4707=)
c.11041G= (p.Gly3681=)
c.14167G= (p.Gly4723=)
n.14466G=
14g.64130144G>TCA389979803ESR2,SYNE2c.14236G>T (p.Gly4746Cys)
c.1639G>T (p.Gly547Cys)
c.13987G>T (p.Gly4663Cys)
c.3391G>T (p.Gly1131Cys)
c.4138G>T (p.Gly1380Cys)
c.1407-45092C>A (n.1407-45092C>A)
c.14119G>T (p.Gly4707Cys)
c.11041G>T (p.Gly3681Cys)
c.14167G>T (p.Gly4723Cys)
n.14466G>T
14g.64130145G>ACA389979815ESR2,SYNE2c.14237G>A (p.Gly4746Asp)
c.1640G>A (p.Gly547Asp)
c.13988G>A (p.Gly4663Asp)
c.3392G>A (p.Gly1131Asp)
c.4139G>A (p.Gly1380Asp)
c.1407-45093C>T (n.1407-45093C>T)
c.14120G>A (p.Gly4707Asp)
c.11042G>A (p.Gly3681Asp)
c.14168G>A (p.Gly4723Asp)
n.14467G>A
14g.64130145G>CCA389979822ESR2,SYNE2c.14237G>C (p.Gly4746Ala)
c.1640G>C (p.Gly547Ala)
c.13988G>C (p.Gly4663Ala)
c.3392G>C (p.Gly1131Ala)
c.4139G>C (p.Gly1380Ala)
c.1407-45093C>G (n.1407-45093C>G)
c.14120G>C (p.Gly4707Ala)
c.11042G>C (p.Gly3681Ala)
c.14168G>C (p.Gly4723Ala)
n.14467G>C
14g.64130145G>TCA389979825ESR2,SYNE2c.14237G>T (p.Gly4746Val)
c.1640G>T (p.Gly547Val)
c.13988G>T (p.Gly4663Val)
c.3392G>T (p.Gly1131Val)
c.4139G>T (p.Gly1380Val)
c.1407-45093C>A (n.1407-45093C>A)
c.14120G>T (p.Gly4707Val)
c.11042G>T (p.Gly3681Val)
c.14168G>T (p.Gly4723Val)
n.14467G>T
 ClinVar dbSNP
14g.64130146C>ACA486960923ESR2,SYNE2c.14238C>A (p.Gly4746=)
c.1641C>A (p.Gly547=)
c.13989C>A (p.Gly4663=)
c.3393C>A (p.Gly1131=)
c.4140C>A (p.Gly1380=)
c.1407-45094G>T (n.1407-45094G>T)
c.14121C>A (p.Gly4707=)
c.11043C>A (p.Gly3681=)
c.14169C>A (p.Gly4723=)
n.14468C>A

Number of alleles fetched