Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.27085031T>CCA531422414EMILIN1c.2575+23T>C (n.2575+23T>C)
c.567+23T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085031T=CA1240109594EMILIN1c.2575+23T= (n.2575+23T=)
c.567+23T=
2g.27085032G>ACA2658283366EMILIN1c.2575+24G>A (n.2575+24G>A)
c.567+24G>A
 gnomAD v4
2g.27085035G>ACA1568973EMILIN1c.2575+27G>A (n.2575+27G>A)
c.567+27G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085035G>CCA1568972EMILIN1c.2575+27G>C (n.2575+27G>C)
c.567+27G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085035G=CA1240109595EMILIN1c.2575+27G= (n.2575+27G=)
c.567+27G=
2g.27085036G>ACA1240109597EMILIN1c.2575+28G>A (n.2575+28G>A)
c.567+28G>A
 dbSNP
2g.27085036G=CA1240109596EMILIN1c.2575+28G= (n.2575+28G=)
c.567+28G=
2g.27085037G>ACA531422416EMILIN1c.2575+29G>A (n.2575+29G>A)
c.567+29G>A
 dbSNP gnomAD v2 gnomAD v4
2g.27085037G>CCA44468539EMILIN1c.2575+29G>C (n.2575+29G>C)
c.567+29G>C
 dbSNP
2g.27085037G=CA1240109598EMILIN1c.2575+29G= (n.2575+29G=)
c.567+29G=
2g.27085038A=CA1240109599EMILIN1c.2575+30A= (n.2575+30A=)
c.567+30A=
2g.27085038A>GCA1240109600EMILIN1c.2575+30A>G (n.2575+30A>G)
c.567+30A>G
 dbSNP
2g.27085039G>CCA2658283381EMILIN1c.2575+31G>C (n.2575+31G>C)
c.567+31G>C
 gnomAD v4
2g.27085041_27085045delCA2658283376EMILIN1c.2575+33_2575+37del (n.2575+33_2575+37del)
c.567+33_567+37del
 gnomAD v4
2g.27085046C>ACA646582774EMILIN1c.2575+38C>A (n.2575+38C>A)
c.567+38C>A
 COSMIC
2g.27085047T>CCA2576702674EMILIN1c.2575+39T>C (n.2575+39T>C)
c.567+39T>C
 gnomAD v4
2g.27085048A=CA1240109601EMILIN1c.2575+40A= (n.2575+40A=)
c.567+40A=
2g.27085048A>GCA1568974EMILIN1c.2575+40A>G (n.2575+40A>G)
c.567+40A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085050G>ACA44468541EMILIN1c.2575+42G>A (n.2575+42G>A)
c.567+42G>A
 dbSNP
2g.27085050G=CA1240109602EMILIN1c.2575+42G= (n.2575+42G=)
c.567+42G=
2g.27085051G>ACA1240109604EMILIN1c.2575+43G>A (n.2575+43G>A)
c.567+43G>A
 dbSNP
2g.27085051G=CA1240109603EMILIN1c.2575+43G= (n.2575+43G=)
c.567+43G=
2g.27085052G>ACA1028653111EMILIN1c.2575+44G>A (n.2575+44G>A)
c.567+44G>A
 dbSNP gnomAD v3 gnomAD v4
2g.27085052G=CA1240109605EMILIN1c.2575+44G= (n.2575+44G=)
c.567+44G=
2g.27085052G>TCA2576702675EMILIN1c.2575+44G>T (n.2575+44G>T)
c.567+44G>T
 gnomAD v4
2g.27085054T>GCA1568975EMILIN1c.2575+46T>G (n.2575+46T>G)
c.567+46T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085054T=CA1240109606EMILIN1c.2575+46T= (n.2575+46T=)
c.567+46T=
2g.27085058_27085060delCA2658283396EMILIN1c.2575+50_2575+52del (n.2575+50_2575+52del)
c.567+50_567+52del
 dbSNP gnomAD v4
2g.27085058G>ACA531422417EMILIN1c.2575+50G>A (n.2575+50G>A)
c.567+50G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085058G>CCA1240109607EMILIN1c.2575+50G>C (n.2575+50G>C)
c.567+50G>C
 dbSNP
2g.27085058G=CA1240109608EMILIN1c.2575+50G= (n.2575+50G=)
c.567+50G=
2g.27085059G>ACA1568976EMILIN1c.2575+51G>A (n.2575+51G>A)
c.567+51G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085059G=CA1240109609EMILIN1c.2575+51G= (n.2575+51G=)
c.567+51G=
2g.27085060A>GCA2658283405EMILIN1c.2575+52A>G (n.2575+52A>G)
c.567+52A>G
 gnomAD v4
2g.27085061T>CCA1028653119EMILIN1c.2575+53T>C (n.2575+53T>C)
c.567+53T>C
 dbSNP gnomAD v3 gnomAD v4
2g.27085061T=CA1240109610EMILIN1c.2575+53T= (n.2575+53T=)
c.567+53T=
2g.27085062A>GCA2576702676EMILIN1c.2575+54A>G (n.2575+54A>G)
c.567+54A>G
2g.27085064A=CA1240109611EMILIN1c.2575+56A= (n.2575+56A=)
c.567+56A=
2g.27085064A>GCA767343580EMILIN1c.2575+56A>G (n.2575+56A>G)
c.567+56A>G
 dbSNP gnomAD v4
2g.27085065G>ACA2658283410EMILIN1c.2575+57G>A (n.2575+57G>A)
c.567+57G>A
 gnomAD v4
2g.27085067T>CCA44468542EMILIN1c.2575+59T>C (n.2575+59T>C)
c.567+59T>C
 dbSNP gnomAD v3 gnomAD v4
2g.27085067T=CA1240109612EMILIN1c.2575+59T= (n.2575+59T=)
c.567+59T=
2g.27085068C=CA1240109613EMILIN1c.2575+60C= (n.2575+60C=)
c.567+60C=
2g.27085068C>TCA1240109614EMILIN1c.2575+60C>T (n.2575+60C>T)
c.567+60C>T
 dbSNP gnomAD v4
2g.27085070T>ACA2658283422EMILIN1c.2575+62T>A (n.2575+62T>A)
c.567+62T>A
 gnomAD v4
2g.27085071C=CA1240109615EMILIN1c.2575+63C= (n.2575+63C=)
c.567+63C=
2g.27085071C>GCA767343582EMILIN1c.2575+63C>G (n.2575+63C>G)
c.567+63C>G
 dbSNP gnomAD v3 gnomAD v4
2g.27085071C>TCA531422418EMILIN1c.2575+63C>T (n.2575+63C>T)
c.567+63C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.27085072G>ACA44468543EMILIN1c.2575+64G>A (n.2575+64G>A)
c.567+64G>A
 dbSNP gnomAD v3 gnomAD v4
2g.27085072G>CCA2658283431EMILIN1c.2575+64G>C (n.2575+64G>C)
c.567+64G>C
 gnomAD v4
2g.27085072G=CA1240109616EMILIN1c.2575+64G= (n.2575+64G=)
c.567+64G=
2g.27085072G>TCA1028653126EMILIN1c.2575+64G>T (n.2575+64G>T)
c.567+64G>T
 dbSNP gnomAD v3 gnomAD v4
2g.27085073G>ACA531422419EMILIN1c.2575+65G>A (n.2575+65G>A)
c.567+65G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085073G=CA1240109617EMILIN1c.2575+65G= (n.2575+65G=)
c.567+65G=
2g.27085073G>TCA1028653131EMILIN1c.2575+65G>T (n.2575+65G>T)
c.567+65G>T
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched