Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27084930T>CCA1240109546EMILIN1c.2558-61T>C (n.2558-61T>C)
c.550-61T>C
 dbSNP gnomAD v4
2g.27084930T=CA1240109545EMILIN1c.2558-61T= (n.2558-61T=)
c.550-61T=
2g.27084932G>ACA2658283017EMILIN1c.2558-59G>A (n.2558-59G>A)
c.550-59G>A
 gnomAD v4
2g.27084933C>ACA2658283023EMILIN1c.2558-58C>A (n.2558-58C>A)
c.550-58C>A
 gnomAD v4
2g.27084933C>TCA2658283024EMILIN1c.2558-58C>T (n.2558-58C>T)
c.550-58C>T
 gnomAD v4
2g.27084934T>CCA2576702669EMILIN1c.2558-57T>C (n.2558-57T>C)
c.550-57T>C
 gnomAD v4
2g.27084935G>ACA2658283030EMILIN1c.2558-56G>A (n.2558-56G>A)
c.550-56G>A
 gnomAD v4
2g.27084936A=CA1240109547EMILIN1c.2558-55A= (n.2558-55A=)
c.550-55A=
2g.27084936A>CCA767343489EMILIN1c.2558-55A>C (n.2558-55A>C)
c.550-55A>C
 dbSNP
2g.27084936A>GCA2658283039EMILIN1c.2558-55A>G (n.2558-55A>G)
c.550-55A>G
 gnomAD v4
2g.27084936A>TCA2658283040EMILIN1c.2558-55A>T (n.2558-55A>T)
c.550-55A>T
 gnomAD v4
2g.27084937G>ACA767343491EMILIN1c.2558-54G>A (n.2558-54G>A)
c.550-54G>A
 dbSNP gnomAD v3 gnomAD v4
2g.27084937G=CA1240109548EMILIN1c.2558-54G= (n.2558-54G=)
c.550-54G=
2g.27084939G>ACA2658283047EMILIN1c.2558-52G>A (n.2558-52G>A)
c.550-52G>A
 gnomAD v4
2g.27084939G=CA1240109549EMILIN1c.2558-52G= (n.2558-52G=)
c.550-52G=
2g.27084939G>TCA531422397EMILIN1c.2558-52G>T (n.2558-52G>T)
c.550-52G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084940A>GCA2658283052EMILIN1c.2558-51A>G (n.2558-51A>G)
c.550-51A>G
 gnomAD v4
2g.27084941C>ACA2658283054EMILIN1c.2558-50C>A (n.2558-50C>A)
c.550-50C>A
 gnomAD v4
2g.27084941C=CA1240109550EMILIN1c.2558-50C= (n.2558-50C=)
c.550-50C=
2g.27084941C>GCA2658283058EMILIN1c.2558-50C>G (n.2558-50C>G)
c.550-50C>G
 gnomAD v4
2g.27084941C>TCA767343495EMILIN1c.2558-50C>T (n.2558-50C>T)
c.550-50C>T
 dbSNP gnomAD v3 gnomAD v4
2g.27084942T>GCA1568956EMILIN1c.2558-49T>G (n.2558-49T>G)
c.550-49T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27084942T=CA1240109551EMILIN1c.2558-49T= (n.2558-49T=)
c.550-49T=
2g.27084943_27084947delinsTAGTGCA1240109552EMILIN1c.2558-48_2558-44delinsTAGTG (n.2558-48_2558-44delinsTAGTG)
c.550-48_550-44delinsTAGTG
2g.27084944delCA2576702670EMILIN1c.2558-47del (n.2558-47del)
c.550-47del
2g.27084944A=CA1240109553EMILIN1c.2558-47A= (n.2558-47A=)
c.550-47A=
2g.27084944A>CCA767343505EMILIN1c.2558-47A>C (n.2558-47A>C)
c.550-47A>C
 dbSNP gnomAD v3 gnomAD v4
2g.27084944A>GCA1240109554EMILIN1c.2558-47A>G (n.2558-47A>G)
c.550-47A>G
 dbSNP gnomAD v4
2g.27084946_27084949delCA1568957EMILIN1c.2558-45_2558-42del (n.2558-45_2558-42del)
c.550-45_550-42del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27084945G>ACA44468531EMILIN1c.2558-46G>A (n.2558-46G>A)
c.550-46G>A
 dbSNP gnomAD v2 gnomAD v4
2g.27084945G=CA1240109555EMILIN1c.2558-46G= (n.2558-46G=)
c.550-46G=
2g.27084946T>CCA531422399EMILIN1c.2558-45T>C (n.2558-45T>C)
c.550-45T>C
 dbSNP gnomAD v2 gnomAD v4
2g.27084946T>GCA2658283131EMILIN1c.2558-45T>G (n.2558-45T>G)
c.550-45T>G
 gnomAD v4
2g.27084946T=CA1240109556EMILIN1c.2558-45T= (n.2558-45T=)
c.550-45T=
2g.27084947delCA2576702671EMILIN1c.2558-44del (n.2558-44del)
c.550-44del
2g.27084947G>ACA1568958EMILIN1c.2558-44G>A (n.2558-44G>A)
c.550-44G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27084947G=CA1240109557EMILIN1c.2558-44G= (n.2558-44G=)
c.550-44G=
2g.27084950_27084951delCA2658283136EMILIN1c.2558-41_2558-40del (n.2558-41_2558-40del)
c.550-41_550-40del
 gnomAD v4
2g.27084948_27084962delinsAGAGCTGCTTTATTTCA1240109558EMILIN1c.2558-43_2558-29delinsAGAGCTGCTTTATTT (n.2558-43_2558-29delinsAGAGCTGCTTTATTT)
c.550-43_550-29delinsAGAGCTGCTTTATTT
2g.27084949_27084962delCA531422400EMILIN1c.2558-42_2558-29del (n.2558-42_2558-29del)
c.550-42_550-29del
 dbSNP gnomAD v2 gnomAD v4
2g.27084952C>ACA2658283153EMILIN1c.2558-39C>A (n.2558-39C>A)
c.550-39C>A
 gnomAD v4
2g.27084952C=CA1240109559EMILIN1c.2558-39C= (n.2558-39C=)
c.550-39C=
2g.27084952C>GCA2658283150EMILIN1c.2558-39C>G (n.2558-39C>G)
c.550-39C>G
 gnomAD v4
2g.27084952C>TCA1240109560EMILIN1c.2558-39C>T (n.2558-39C>T)
c.550-39C>T
 dbSNP gnomAD v4
2g.27084953T>GCA2576702672EMILIN1c.2558-38T>G (n.2558-38T>G)
c.550-38T>G
2g.27084955C=CA1240109562EMILIN1c.2558-36C= (n.2558-36C=)
c.550-36C=
2g.27084955C>GCA1240109561EMILIN1c.2558-36C>G (n.2558-36C>G)
c.550-36C>G
 dbSNP
2g.27084955C>TCA1568959EMILIN1c.2558-36C>T (n.2558-36C>T)
c.550-36C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27084956T>CCA44468534EMILIN1c.2558-35T>C (n.2558-35T>C)
c.550-35T>C
 dbSNP
2g.27084956T=CA1240109563EMILIN1c.2558-35T= (n.2558-35T=)
c.550-35T=
2g.27084959_27084962delCA2658283163EMILIN1c.2558-32_2558-29del (n.2558-32_2558-29del)
c.550-32_550-29del
 gnomAD v4
2g.27084957T>GCA767343517EMILIN1c.2558-34T>G (n.2558-34T>G)
c.550-34T>G
 dbSNP gnomAD v4
2g.27084957T=CA1240109564EMILIN1c.2558-34T= (n.2558-34T=)
c.550-34T=
2g.27084963C>ACA44468535EMILIN1c.2558-28C>A (n.2558-28C>A)
c.550-28C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084963C=CA1240109565EMILIN1c.2558-28C= (n.2558-28C=)
c.550-28C=
2g.27084963C>GCA1240109566EMILIN1c.2558-28C>G (n.2558-28C>G)
c.550-28C>G
 dbSNP
2g.27084964T>CCA1568960EMILIN1c.2558-27T>C (n.2558-27T>C)
c.550-27T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27084964T=CA1240109567EMILIN1c.2558-27T= (n.2558-27T=)
c.550-27T=
2g.27084965C=CA1240109568EMILIN1c.2558-26C= (n.2558-26C=)
c.550-26C=
2g.27084965C>GCA1240109569EMILIN1c.2558-26C>G (n.2558-26C>G)
c.550-26C>G
 dbSNP
2g.27084965C>TCA1568961EMILIN1c.2558-26C>T (n.2558-26C>T)
c.550-26C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27084966A=CA1240109570EMILIN1c.2558-25A= (n.2558-25A=)
c.550-25A=
2g.27084966A>GCA1028653106EMILIN1c.2558-25A>G (n.2558-25A>G)
c.550-25A>G
 dbSNP
2g.27084967C>ACA1568962EMILIN1c.2558-24C>A (n.2558-24C>A)
c.550-24C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27084967C=CA1240109571EMILIN1c.2558-24C= (n.2558-24C=)
c.550-24C=
2g.27084969G>ACA1568963EMILIN1c.2558-22G>A (n.2558-22G>A)
c.550-22G>A
 dbSNP ExAC gnomAD v2
2g.27084969G=CA1240109572EMILIN1c.2558-22G= (n.2558-22G=)
c.550-22G=
2g.27084972C=CA1240109573EMILIN1c.2558-19C= (n.2558-19C=)
c.550-19C=
2g.27084972_27084973insACA1568964EMILIN1c.2558-19_2558-18insA (n.2558-19_2558-18insA)
c.550-19_550-18insA
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27084973C>TCA2658283217EMILIN1c.2558-18C>T (n.2558-18C>T)
c.550-18C>T
 gnomAD v4
2g.27084974C=CA1240109574EMILIN1c.2558-17C= (n.2558-17C=)
c.550-17C=
2g.27084974C>GCA1568965EMILIN1c.2558-17C>G (n.2558-17C>G)
c.550-17C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27084975T>CCA531422405EMILIN1c.2558-16T>C (n.2558-16T>C)
c.550-16T>C
 dbSNP gnomAD v2 gnomAD v4
2g.27084975T=CA1240109575EMILIN1c.2558-16T= (n.2558-16T=)
c.550-16T=
2g.27084976T>CCA2658283230EMILIN1c.2558-15T>C (n.2558-15T>C)
c.550-15T>C
 gnomAD v4
2g.27084978C>TCA2658283236EMILIN1c.2558-13C>T (n.2558-13C>T)
c.550-13C>T
 gnomAD v4
2g.27084979C=CA1240109576EMILIN1c.2558-12C= (n.2558-12C=)
c.550-12C=
2g.27084979C>GCA44468536EMILIN1c.2558-12C>G (n.2558-12C>G)
c.550-12C>G
 dbSNP
2g.27084980T>CCA2658283238EMILIN1c.2558-11T>C (n.2558-11T>C)
c.550-11T>C
 gnomAD v4
2g.27084981C=CA1240109577EMILIN1c.2558-10C= (n.2558-10C=)
c.550-10C=
2g.27084981C>TCA531422406EMILIN1c.2558-10C>T (n.2558-10C>T)
c.550-10C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084982T>CCA1568966EMILIN1c.2558-9T>C (n.2558-9T>C)
c.550-9T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27084982T=CA1240109578EMILIN1c.2558-9T= (n.2558-9T=)
c.550-9T=
2g.27084983_27084986delinsTCTCCA1240109579EMILIN1c.2558-8_2558-5delinsTCTC (n.2558-8_2558-5delinsTCTC)
c.550-8_550-5delinsTCTC
2g.27084984_27084986delCA531422408EMILIN1c.2558-7_2558-5del (n.2558-7_2558-5del)
c.550-7_550-5del
 dbSNP gnomAD v2 gnomAD v4
2g.27084985T>GCA2658283260EMILIN1c.2558-6T>G (n.2558-6T>G)
c.550-6T>G
 gnomAD v4
2g.27084989A=CA1240109580EMILIN1c.2558-2A= (n.2558-2A=)
c.550-2A=
2g.27084989A>CCA346155864EMILIN1c.2558-2A>C (n.2558-2A>C)
c.550-2A>C
2g.27084989A>GCA346155865EMILIN1c.2558-2A>G (n.2558-2A>G)
c.550-2A>G
 dbSNP gnomAD v2 gnomAD v4
2g.27084989A>TCA346155866EMILIN1c.2558-2A>T (n.2558-2A>T)
c.550-2A>T
2g.27084990G>ACA346155867EMILIN1c.2558-1G>A (n.2558-1G>A)
c.550-1G>A
 dbSNP gnomAD v2
2g.27084990G>CCA346155869EMILIN1c.2558-1G>C (n.2558-1G>C)
c.550-1G>C
2g.27084990G=CA1240109581EMILIN1c.2558-1G= (n.2558-1G=)
c.550-1G=
2g.27084990G>TCA346155868EMILIN1c.2558-1G>T (n.2558-1G>T)
c.550-1G>T
2g.27084991G>ACA346155870EMILIN1c.2558G>A (p.Gly853Asp)
c.550G>A
2g.27084991G>CCA346155872EMILIN1c.2558G>C (p.Gly853Ala)
c.550G>C
2g.27084991G>TCA346155871EMILIN1c.2558G>T (p.Gly853Val)
c.550G>T
2g.27084992T>ACA425382024EMILIN1c.2559T>A (p.Gly853=)
c.551T>A
2g.27084992T>CCA425382026EMILIN1c.2559T>C (p.Gly853=)
c.551T>C
2g.27084992T>GCA425382028EMILIN1c.2559T>G (p.Gly853=)
c.551T>G
2g.27084994_27084996delCA2658283276EMILIN1c.2561_2563del (p.Pro854del)
c.553_555del
 gnomAD v4
2g.27084993C>ACA346155874EMILIN1c.2560C>A (p.Pro854Thr)
c.552C>A
2g.27084993C=CA1240109582EMILIN1c.2560C= (p.Pro854=)
c.552C=
2g.27084993C>GCA346155875EMILIN1c.2560C>G (p.Pro854Ala)
c.552C>G
2g.27084993C>TCA346155877EMILIN1c.2560C>T (p.Pro854Ser)
c.552C>T
 dbSNP gnomAD v4
2g.27084994C>ACA346155880EMILIN1c.2561C>A (p.Pro854His)
c.553C>A
2g.27084994C>GCA346155881EMILIN1c.2561C>G (p.Pro854Arg)
c.553C>G
 gnomAD v4
2g.27084994C>TCA346155883EMILIN1c.2561C>T (p.Pro854Leu)
c.553C>T
2g.27084995T>ACA425382032EMILIN1c.2562T>A (p.Pro854=)
c.554T>A
2g.27084995T>CCA425382034EMILIN1c.2562T>C (p.Pro854=)
c.554T>C
2g.27084995T>GCA425382033EMILIN1c.2562T>G (p.Pro854=)
c.554T>G
2g.27084996C>ACA346155885EMILIN1c.2563C>A (p.Gln855Lys)
c.555C>A
2g.27084996C>GCA346155886EMILIN1c.2563C>G (p.Gln855Glu)
c.555C>G
2g.27084996C>TCA346155888EMILIN1c.2563C>T (p.Gln855Ter)
c.555C>T
2g.27084997A=CA1240109583EMILIN1c.2564A= (p.Gln855=)
c.556A=
2g.27084997A>CCA346155891EMILIN1c.2564A>C (p.Gln855Pro)
c.556A>C
 dbSNP gnomAD v3 gnomAD v4
2g.27084997A>GCA346155893EMILIN1c.2564A>G (p.Gln855Arg)
c.556A>G
2g.27084997A>TCA346155894EMILIN1c.2564A>T (p.Gln855Leu)
c.556A>T
2g.27084998A=CA1240109584EMILIN1c.2565A= (p.Gln855=)
c.557A=
2g.27084998A>CCA346155896EMILIN1c.2565A>C (p.Gln855His)
c.557A>C
2g.27084998A>GCA1568967EMILIN1c.2565A>G (p.Gln855=)
c.557A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27084998A>TCA346155898EMILIN1c.2565A>T (p.Gln855His)
c.557A>T
2g.27084999G>ACA346155900EMILIN1c.2566G>A (p.Gly856Ser)
c.558G>A
 COSMIC
2g.27084999G>CCA346155902EMILIN1c.2566G>C (p.Gly856Arg)
c.558G>C
 gnomAD v4
2g.27084999G>TCA346155904EMILIN1c.2566G>T (p.Gly856Cys)
c.558G>T
2g.27085000G>ACA346155906EMILIN1c.2567G>A (p.Gly856Asp)
c.559G>A
 gnomAD v4
2g.27085000G>CCA346155908EMILIN1c.2567G>C (p.Gly856Ala)
c.559G>C
2g.27085000G>TCA346155911EMILIN1c.2567G>T (p.Gly856Val)
c.559G>T
2g.27085001T>ACA425382039EMILIN1c.2568T>A (p.Gly856=)
c.560T>A
2g.27085001T>CCA425382040EMILIN1c.2568T>C (p.Gly856=)
c.560T>C
2g.27085001T>GCA425382042EMILIN1c.2568T>G (p.Gly856=)
c.560T>G
2g.27085002G>ACA346155913EMILIN1c.2569G>A (p.Glu857Lys)
c.561G>A
2g.27085002G>CCA346155915EMILIN1c.2569G>C (p.Glu857Gln)
c.561G>C
2g.27085002G>TCA346155916EMILIN1c.2569G>T (p.Glu857Ter)
c.561G>T
2g.27085003A>CCA346155921EMILIN1c.2570A>C (p.Glu857Ala)
c.562A>C
2g.27085003A>GCA346155923EMILIN1c.2570A>G (p.Glu857Gly)
c.562A>G
2g.27085003A>TCA346155919EMILIN1c.2570A>T (p.Glu857Val)
c.562A>T
2g.27085004A>CCA346155926EMILIN1c.2571A>C (p.Glu857Asp)
c.563A>C
2g.27085004A>GCA425382046EMILIN1c.2571A>G (p.Glu857=)
c.563A>G
2g.27085004A>TCA346155927EMILIN1c.2571A>T (p.Glu857Asp)
c.563A>T
2g.27085005C>ACA346155928EMILIN1c.2572C>A (p.Gln858Lys)
c.564C>A
2g.27085005C=CA1240109585EMILIN1c.2572C= (p.Gln858=)
c.564C=
2g.27085005C>GCA346155930EMILIN1c.2572C>G (p.Gln858Glu)
c.564C>G
 dbSNP
2g.27085005C>TCA346155932EMILIN1c.2572C>T (p.Gln858Ter)
c.564C>T
2g.27085006A>CCA346155934EMILIN1c.2573A>C (p.Gln858Pro)
c.565A>C
2g.27085006A>GCA346155936EMILIN1c.2573A>G (p.Gln858Arg)
c.565A>G
2g.27085006A>TCA346155937EMILIN1c.2573A>T (p.Gln858Leu)
c.565A>T
2g.27085007G>ACA425382050EMILIN1c.2574G>A (p.Gln858=)
c.566G>A
2g.27085007G>CCA346155939EMILIN1c.2574G>C (p.Gln858His)
c.566G>C
2g.27085007G>TCA346155940EMILIN1c.2574G>T (p.Gln858His)
c.566G>T
2g.27085008G>ACA346155943EMILIN1c.2575G>A (p.Gly859Arg)
c.567G>A
c.2575G>A (p.Gly859Ser)
 gnomAD v4
2g.27085008G>CCA346155945EMILIN1c.2575G>C (p.Gly859Arg)
c.567G>C
2g.27085008G>TCA346155946EMILIN1c.2575G>T (p.Gly859Ter)
c.567G>T
c.2575G>T (p.Gly859Cys)
2g.27085009G>ACA1568968EMILIN1c.2575+1G>A (n.2575+1G>A)
c.567+1G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085009G>CCA346155951EMILIN1c.2575+1G>C (n.2575+1G>C)
c.567+1G>C
 gnomAD v4
2g.27085009G=CA1240109586EMILIN1c.2575+1G= (n.2575+1G=)
c.567+1G=
2g.27085009G>TCA346155948EMILIN1c.2575+1G>T (n.2575+1G>T)
c.567+1G>T
 gnomAD v4
2g.27085012_27085015delCA2658283318EMILIN1c.2575+4_2575+7del (n.2575+4_2575+7del)
c.567+4_567+7del
 gnomAD v4
2g.27085010T>ACA346155952EMILIN1c.2575+2T>A (n.2575+2T>A)
c.567+2T>A
2g.27085010T>CCA346155953EMILIN1c.2575+2T>C (n.2575+2T>C)
c.567+2T>C
 gnomAD v4
2g.27085010T>GCA1568969EMILIN1c.2575+2T>G (n.2575+2T>G)
c.567+2T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085010T=CA1240109587EMILIN1c.2575+2T= (n.2575+2T=)
c.567+2T=
2g.27085011G>ACA1568970EMILIN1c.2575+3G>A (n.2575+3G>A)
c.567+3G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085011G=CA1240109588EMILIN1c.2575+3G= (n.2575+3G=)
c.567+3G=
2g.27085013G>ACA2658283335EMILIN1c.2575+5G>A (n.2575+5G>A)
c.567+5G>A
 gnomAD v4
2g.27085013G>TCA2658283336EMILIN1c.2575+5G>T (n.2575+5G>T)
c.567+5G>T
 gnomAD v4
2g.27085016C>ACA1568971EMILIN1c.2575+8C>A (n.2575+8C>A)
c.567+8C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085016C=CA1240109589EMILIN1c.2575+8C= (n.2575+8C=)
c.567+8C=
2g.27085016C>TCA531422413EMILIN1c.2575+8C>T (n.2575+8C>T)
c.567+8C>T
 dbSNP gnomAD v2 gnomAD v4
2g.27085017C>ACA2576702673EMILIN1c.2575+9C>A (n.2575+9C>A)
c.567+9C>A
 gnomAD v4
2g.27085022A=CA1240109590EMILIN1c.2575+14A= (n.2575+14A=)
c.567+14A=
2g.27085022A>GCA913090380EMILIN1c.2575+14A>G (n.2575+14A>G)
c.567+14A>G
 dbSNP
2g.27085025T>ACA1240109592EMILIN1c.2575+17T>A (n.2575+17T>A)
c.567+17T>A
 dbSNP gnomAD v4
2g.27085025T>GCA2658283350EMILIN1c.2575+17T>G (n.2575+17T>G)
c.567+17T>G
 gnomAD v4
2g.27085025T=CA1240109591EMILIN1c.2575+17T= (n.2575+17T=)
c.567+17T=
2g.27085027A=CA1240109593EMILIN1c.2575+19A= (n.2575+19A=)
c.567+19A=
2g.27085027A>GCA767343566EMILIN1c.2575+19A>G (n.2575+19A>G)
c.567+19A>G
 dbSNP
2g.27085028T>CCA2658283358EMILIN1c.2575+20T>C (n.2575+20T>C)
c.567+20T>C
 gnomAD v4
2g.27085030C>TCA2658283362EMILIN1c.2575+22C>T (n.2575+22C>T)
c.567+22C>T
 gnomAD v4

Number of alleles fetched