Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45504431C>ACA512687119COL18A1,SLC19A1c.3283C>A (p.Arg1095=)
c.2743C>A (p.Arg915=)
n.784C>A (p.Arg262=)
n.3988C>A (p.Arg1330=)
n.498-5819G>T
c.1294-5819G>T (p.=)
c.3988C>A (p.Arg1330=)
c.1585-1462G>T (p.=)
21g.45504431C=CA2392190666COL18A1,SLC19A1c.3283C= (p.Arg1095=)
c.2743C= (p.Arg915=)
n.784C= (p.Arg262=)
n.3988C= (p.Arg1330=)
n.498-5819G=
c.1294-5819G= (p.=)
c.3988C= (p.Arg1330=)
c.1585-1462G= (p.=)
21g.45504431C>GCA410499122COL18A1,SLC19A1c.3283C>G (p.Arg1095Gly)
c.2743C>G (p.Arg915Gly)
n.784C>G (p.Arg262Gly)
n.3988C>G (p.Arg1330Gly)
n.498-5819G>C
c.1294-5819G>C (p.=)
c.3988C>G (p.Arg1330Gly)
c.1585-1462G>C (p.=)
21g.45504431C>TCA236429COL18A1,SLC19A1c.3283C>T (p.Arg1095Ter)
c.2743C>T (p.Arg915Ter)
n.784C>T (p.Arg262Ter)
n.3988C>T (p.Arg1330Ter)
n.498-5819G>A
c.1294-5819G>A (p.=)
c.3988C>T (p.Arg1330Ter)
c.1585-1462G>A (p.=)
ClinVar dbSNP ExAC gnomAD
21g.45504432G>ACA10067444COL18A1,SLC19A1c.3284G>A (p.Arg1095Gln)
c.2744G>A (p.Arg915Gln)
n.785G>A (p.Arg262Gln)
n.3989G>A (p.Arg1330Gln)
n.498-5820C>T
c.1294-5820C>T (p.=)
c.3989G>A (p.Arg1330Gln)
c.1585-1463C>T (p.=)
dbSNP ExAC gnomAD
21g.45504432G>CCA410499123COL18A1,SLC19A1c.3284G>C (p.Arg1095Pro)
c.2744G>C (p.Arg915Pro)
n.785G>C (p.Arg262Pro)
n.3989G>C (p.Arg1330Pro)
n.498-5820C>G
c.1294-5820C>G (p.=)
c.3989G>C (p.Arg1330Pro)
c.1585-1463C>G (p.=)
21g.45504432G=CA2392190667COL18A1,SLC19A1c.3284G= (p.Arg1095=)
c.2744G= (p.Arg915=)
n.785G= (p.Arg262=)
n.3989G= (p.Arg1330=)
n.498-5820C=
c.1294-5820C= (p.=)
c.3989G= (p.Arg1330=)
c.1585-1463C= (p.=)
21g.45504432G>TCA410499124COL18A1,SLC19A1c.3284G>T (p.Arg1095Leu)
c.2744G>T (p.Arg915Leu)
n.785G>T (p.Arg262Leu)
n.3989G>T (p.Arg1330Leu)
n.498-5820C>A
c.1294-5820C>A (p.=)
c.3989G>T (p.Arg1330Leu)
c.1585-1463C>A (p.=)
21g.45504433A>CCA512687120COL18A1,SLC19A1c.3285A>C (p.Arg1095=)
c.2745A>C (p.Arg915=)
n.786A>C (p.Arg262=)
n.3990A>C (p.Arg1330=)
n.498-5821T>G
c.1294-5821T>G (p.=)
c.3990A>C (p.Arg1330=)
c.1585-1464T>G (p.=)
21g.45504433A>GCA512687121COL18A1,SLC19A1c.3285A>G (p.Arg1095=)
c.2745A>G (p.Arg915=)
n.786A>G (p.Arg262=)
n.3990A>G (p.Arg1330=)
n.498-5821T>C
c.1294-5821T>C (p.=)
c.3990A>G (p.Arg1330=)
c.1585-1464T>C (p.=)
21g.45504433A>TCA512687122COL18A1,SLC19A1c.3285A>T (p.Arg1095=)
c.2745A>T (p.Arg915=)
n.786A>T (p.Arg262=)
n.3990A>T (p.Arg1330=)
n.498-5821T>A
c.1294-5821T>A (p.=)
c.3990A>T (p.Arg1330=)
c.1585-1464T>A (p.=)
21g.45504434G>ACA410499125COL18A1,SLC19A1c.3286G>A (p.Gly1096Ser)
c.2746G>A (p.Gly916Ser)
n.787G>A (p.Gly263Ser)
n.3991G>A (p.Gly1331Ser)
n.498-5822C>T
c.1294-5822C>T (p.=)
c.3991G>A (p.Gly1331Ser)
c.1585-1465C>T (p.=)
21g.45504434G>CCA410499126COL18A1,SLC19A1c.3286G>C (p.Gly1096Arg)
c.2746G>C (p.Gly916Arg)
n.787G>C (p.Gly263Arg)
n.3991G>C (p.Gly1331Arg)
n.498-5822C>G
c.1294-5822C>G (p.=)
c.3991G>C (p.Gly1331Arg)
c.1585-1465C>G (p.=)
21g.45504434G>TCA410499127COL18A1,SLC19A1c.3286G>T (p.Gly1096Cys)
c.2746G>T (p.Gly916Cys)
n.787G>T (p.Gly263Cys)
n.3991G>T (p.Gly1331Cys)
n.498-5822C>A
c.1294-5822C>A (p.=)
c.3991G>T (p.Gly1331Cys)
c.1585-1465C>A (p.=)
21g.45504435G>ACA410499128COL18A1,SLC19A1c.3287G>A (p.Gly1096Asp)
c.2747G>A (p.Gly916Asp)
n.788G>A (p.Gly263Asp)
n.3992G>A (p.Gly1331Asp)
n.498-5823C>T
c.1294-5823C>T (p.=)
c.3992G>A (p.Gly1331Asp)
c.1585-1466C>T (p.=)
21g.45504435G>CCA410499129COL18A1,SLC19A1c.3287G>C (p.Gly1096Ala)
c.2747G>C (p.Gly916Ala)
n.788G>C (p.Gly263Ala)
n.3992G>C (p.Gly1331Ala)
n.498-5823C>G
c.1294-5823C>G (p.=)
c.3992G>C (p.Gly1331Ala)
c.1585-1466C>G (p.=)
21g.45504435G=CA2392190668COL18A1,SLC19A1c.3287G= (p.Gly1096=)
c.2747G= (p.Gly916=)
n.788G= (p.Gly263=)
n.3992G= (p.Gly1331=)
n.498-5823C=
c.1294-5823C= (p.=)
c.3992G= (p.Gly1331=)
c.1585-1466C= (p.=)
21g.45504435G>TCA410499130COL18A1,SLC19A1c.3287G>T (p.Gly1096Val)
c.2747G>T (p.Gly916Val)
n.788G>T (p.Gly263Val)
n.3992G>T (p.Gly1331Val)
n.498-5823C>A
c.1294-5823C>A (p.=)
c.3992G>T (p.Gly1331Val)
c.1585-1466C>A (p.=)
21g.45504436T>ACA512687124COL18A1,SLC19A1c.3288T>A (p.Gly1096=)
c.2748T>A (p.Gly916=)
n.789T>A (p.Gly263=)
n.3993T>A (p.Gly1331=)
n.498-5824A>T
c.1294-5824A>T (p.=)
c.3993T>A (p.Gly1331=)
c.1585-1467A>T (p.=)
21g.45504436T>CCA10067445COL18A1,SLC19A1c.3288T>C (p.Gly1096=)
c.2748T>C (p.Gly916=)
n.789T>C (p.Gly263=)
n.3993T>C (p.Gly1331=)
n.498-5824A>G
c.1294-5824A>G (p.=)
c.3993T>C (p.Gly1331=)
c.1585-1467A>G (p.=)
dbSNP ExAC gnomAD
21g.45504436T>GCA512687123COL18A1,SLC19A1c.3288T>G (p.Gly1096=)
c.2748T>G (p.Gly916=)
n.789T>G (p.Gly263=)
n.3993T>G (p.Gly1331=)
n.498-5824A>C
c.1294-5824A>C (p.=)
c.3993T>G (p.Gly1331=)
c.1585-1467A>C (p.=)
21g.45504436T=CA2392190669COL18A1,SLC19A1c.3288T= (p.Gly1096=)
c.2748T= (p.Gly916=)
n.789T= (p.Gly263=)
n.3993T= (p.Gly1331=)
n.498-5824A=
c.1294-5824A= (p.=)
c.3993T= (p.Gly1331=)
c.1585-1467A= (p.=)
21g.45504437G>ACA410499131COL18A1,SLC19A1c.3289G>A (p.Asp1097Asn)
c.2749G>A (p.Asp917Asn)
n.790G>A (p.Asp264Asn)
n.3994G>A (p.Asp1332Asn)
n.498-5825C>T
c.1294-5825C>T (p.=)
c.3994G>A (p.Asp1332Asn)
c.1585-1468C>T (p.=)
21g.45504437G>CCA410499132COL18A1,SLC19A1c.3289G>C (p.Asp1097His)
c.2749G>C (p.Asp917His)
n.790G>C (p.Asp264His)
n.3994G>C (p.Asp1332His)
n.498-5825C>G
c.1294-5825C>G (p.=)
c.3994G>C (p.Asp1332His)
c.1585-1468C>G (p.=)
gnomAD
21g.45504437G=CA2392190670COL18A1,SLC19A1c.3289G= (p.Asp1097=)
c.2749G= (p.Asp917=)
n.790G= (p.Asp264=)
n.3994G= (p.Asp1332=)
n.498-5825C=
c.1294-5825C= (p.=)
c.3994G= (p.Asp1332=)
c.1585-1468C= (p.=)
21g.45504437G>TCA410499133COL18A1,SLC19A1c.3289G>T (p.Asp1097Tyr)
c.2749G>T (p.Asp917Tyr)
n.790G>T (p.Asp264Tyr)
n.3994G>T (p.Asp1332Tyr)
n.498-5825C>A
c.1294-5825C>A (p.=)
c.3994G>T (p.Asp1332Tyr)
c.1585-1468C>A (p.=)
21g.45504438A>CCA410499134COL18A1,SLC19A1c.3290A>C (p.Asp1097Ala)
c.2750A>C (p.Asp917Ala)
n.791A>C (p.Asp264Ala)
n.3995A>C (p.Asp1332Ala)
n.498-5826T>G
c.1294-5826T>G (p.=)
c.3995A>C (p.Asp1332Ala)
c.1585-1469T>G (p.=)
21g.45504438A>GCA410499135COL18A1,SLC19A1c.3290A>G (p.Asp1097Gly)
c.2750A>G (p.Asp917Gly)
n.791A>G (p.Asp264Gly)
n.3995A>G (p.Asp1332Gly)
n.498-5826T>C
c.1294-5826T>C (p.=)
c.3995A>G (p.Asp1332Gly)
c.1585-1469T>C (p.=)
21g.45504438A>TCA410499136COL18A1,SLC19A1c.3290A>T (p.Asp1097Val)
c.2750A>T (p.Asp917Val)
n.791A>T (p.Asp264Val)
n.3995A>T (p.Asp1332Val)
n.498-5826T>A
c.1294-5826T>A (p.=)
c.3995A>T (p.Asp1332Val)
c.1585-1469T>A (p.=)
21g.45504439T>ACA410499137COL18A1,SLC19A1c.3291T>A (p.Asp1097Glu)
c.2751T>A (p.Asp917Glu)
n.792T>A (p.Asp264Glu)
n.3996T>A (p.Asp1332Glu)
n.498-5827A>T
c.1294-5827A>T (p.=)
c.3996T>A (p.Asp1332Glu)
c.1585-1470A>T (p.=)
21g.45504439T>CCA512687125COL18A1,SLC19A1c.3291T>C (p.Asp1097=)
c.2751T>C (p.Asp917=)
n.792T>C (p.Asp264=)
n.3996T>C (p.Asp1332=)
n.498-5827A>G
c.1294-5827A>G (p.=)
c.3996T>C (p.Asp1332=)
c.1585-1470A>G (p.=)
21g.45504439T>GCA410499138COL18A1,SLC19A1c.3291T>G (p.Asp1097Glu)
c.2751T>G (p.Asp917Glu)
n.792T>G (p.Asp264Glu)
n.3996T>G (p.Asp1332Glu)
n.498-5827A>C
c.1294-5827A>C (p.=)
c.3996T>G (p.Asp1332Glu)
c.1585-1470A>C (p.=)
21g.45504440G>ACA10067446COL18A1,SLC19A1c.3292G>A (p.Ala1098Thr)
c.2752G>A (p.Ala918Thr)
n.793G>A (p.Ala265Thr)
n.3997G>A (p.Ala1333Thr)
n.498-5828C>T
c.1294-5828C>T (p.=)
c.3997G>A (p.Ala1333Thr)
c.1585-1471C>T (p.=)
dbSNP ExAC gnomAD
21g.45504440G>CCA410499139COL18A1,SLC19A1c.3292G>C (p.Ala1098Pro)
c.2752G>C (p.Ala918Pro)
n.793G>C (p.Ala265Pro)
n.3997G>C (p.Ala1333Pro)
n.498-5828C>G
c.1294-5828C>G (p.=)
c.3997G>C (p.Ala1333Pro)
c.1585-1471C>G (p.=)
21g.45504440G=CA2392190671COL18A1,SLC19A1c.3292G= (p.Ala1098=)
c.2752G= (p.Ala918=)
n.793G= (p.Ala265=)
n.3997G= (p.Ala1333=)
n.498-5828C=
c.1294-5828C= (p.=)
c.3997G= (p.Ala1333=)
c.1585-1471C= (p.=)
21g.45504440G>TCA10067447COL18A1,SLC19A1c.3292G>T (p.Ala1098Ser)
c.2752G>T (p.Ala918Ser)
n.793G>T (p.Ala265Ser)
n.3997G>T (p.Ala1333Ser)
n.498-5828C>A
c.1294-5828C>A (p.=)
c.3997G>T (p.Ala1333Ser)
c.1585-1471C>A (p.=)
dbSNP ExAC gnomAD
21g.45504441C>ACA410499142COL18A1,SLC19A1c.3293C>A (p.Ala1098Glu)
c.2753C>A (p.Ala918Glu)
n.794C>A (p.Ala265Glu)
n.3998C>A (p.Ala1333Glu)
n.498-5829G>T
c.1294-5829G>T (p.=)
c.3998C>A (p.Ala1333Glu)
c.1585-1472G>T (p.=)
21g.45504441C=CA2392190672COL18A1,SLC19A1c.3293C= (p.Ala1098=)
c.2753C= (p.Ala918=)
n.794C= (p.Ala265=)
n.3998C= (p.Ala1333=)
n.498-5829G=
c.1294-5829G= (p.=)
c.3998C= (p.Ala1333=)
c.1585-1472G= (p.=)
21g.45504441C>GCA410499141COL18A1,SLC19A1c.3293C>G (p.Ala1098Gly)
c.2753C>G (p.Ala918Gly)
n.794C>G (p.Ala265Gly)
n.3998C>G (p.Ala1333Gly)
n.498-5829G>C
c.1294-5829G>C (p.=)
c.3998C>G (p.Ala1333Gly)
c.1585-1472G>C (p.=)
21g.45504441C>TCA410499140COL18A1,SLC19A1c.3293C>T (p.Ala1098Val)
c.2753C>T (p.Ala918Val)
n.794C>T (p.Ala265Val)
n.3998C>T (p.Ala1333Val)
n.498-5829G>A
c.1294-5829G>A (p.=)
c.3998C>T (p.Ala1333Val)
c.1585-1472G>A (p.=)
21g.45504442A>CCA512687128COL18A1,SLC19A1c.3294A>C (p.Ala1098=)
c.2754A>C (p.Ala918=)
n.795A>C (p.Ala265=)
n.3999A>C (p.Ala1333=)
n.498-5830T>G
c.1294-5830T>G (p.=)
c.3999A>C (p.Ala1333=)
c.1585-1473T>G (p.=)
21g.45504442A>GCA512687127COL18A1,SLC19A1c.3294A>G (p.Ala1098=)
c.2754A>G (p.Ala918=)
n.795A>G (p.Ala265=)
n.3999A>G (p.Ala1333=)
n.498-5830T>C
c.1294-5830T>C (p.=)
c.3999A>G (p.Ala1333=)
c.1585-1473T>C (p.=)
21g.45504442A>TCA512687126COL18A1,SLC19A1c.3294A>T (p.Ala1098=)
c.2754A>T (p.Ala918=)
n.795A>T (p.Ala265=)
n.3999A>T (p.Ala1333=)
n.498-5830T>A
c.1294-5830T>A (p.=)
c.3999A>T (p.Ala1333=)
c.1585-1473T>A (p.=)
21g.45504443G>ACA410499143COL18A1,SLC19A1c.3295G>A (p.Gly1099Arg)
c.2755G>A (p.Gly919Arg)
n.796G>A (p.Gly266Arg)
n.4000G>A (p.Gly1334Arg)
n.498-5831C>T
c.1294-5831C>T (p.=)
c.4000G>A (p.Gly1334Arg)
c.1585-1474C>T (p.=)
gnomAD
21g.45504443G>CCA410499144COL18A1,SLC19A1c.3295G>C (p.Gly1099Arg)
c.2755G>C (p.Gly919Arg)
n.796G>C (p.Gly266Arg)
n.4000G>C (p.Gly1334Arg)
n.498-5831C>G
c.1294-5831C>G (p.=)
c.4000G>C (p.Gly1334Arg)
c.1585-1474C>G (p.=)
gnomAD
21g.45504443G=CA2392190673COL18A1,SLC19A1c.3295G= (p.Gly1099=)
c.2755G= (p.Gly919=)
n.796G= (p.Gly266=)
n.4000G= (p.Gly1334=)
n.498-5831C=
c.1294-5831C= (p.=)
c.4000G= (p.Gly1334=)
c.1585-1474C= (p.=)
21g.45504443G>TCA410499145COL18A1,SLC19A1c.3295G>T (p.Gly1099Ter)
c.2755G>T (p.Gly919Ter)
n.796G>T (p.Gly266Ter)
n.4000G>T (p.Gly1334Ter)
n.498-5831C>A
c.1294-5831C>A (p.=)
c.4000G>T (p.Gly1334Ter)
c.1585-1474C>A (p.=)
21g.45504444G>ACA410499146COL18A1,SLC19A1c.3296G>A (p.Gly1099Glu)
c.2756G>A (p.Gly919Glu)
n.797G>A (p.Gly266Glu)
n.4001G>A (p.Gly1334Glu)
n.498-5832C>T
c.1294-5832C>T (p.=)
c.4001G>A (p.Gly1334Glu)
c.1585-1475C>T (p.=)
21g.45504444G>CCA410499147COL18A1,SLC19A1c.3296G>C (p.Gly1099Ala)
c.2756G>C (p.Gly919Ala)
n.797G>C (p.Gly266Ala)
n.4001G>C (p.Gly1334Ala)
n.498-5832C>G
c.1294-5832C>G (p.=)
c.4001G>C (p.Gly1334Ala)
c.1585-1475C>G (p.=)
gnomAD
21g.45504444G=CA2392190674COL18A1,SLC19A1c.3296G= (p.Gly1099=)
c.2756G= (p.Gly919=)
n.797G= (p.Gly266=)
n.4001G= (p.Gly1334=)
n.498-5832C=
c.1294-5832C= (p.=)
c.4001G= (p.Gly1334=)
c.1585-1475C= (p.=)

Number of alleles fetched