Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36995474G>ACA117052527NIPBLc.3122-148G>A (p.=)
c.2378-148G>A (p.=)
c.3122-5343G>A (p.=)
c.2462-148G>A (p.=)
c.1505-148G>A (p.=)
c.1496-148G>A (p.=)
n.325G>A
n.2742-148G>A
c.1-69104G>A (p.=)
dbSNP gnomAD
5g.36995476G>ACA1075107945NIPBLc.3122-146G>A (p.=)
c.2378-146G>A (p.=)
c.3122-5341G>A (p.=)
c.2462-146G>A (p.=)
c.1505-146G>A (p.=)
c.1496-146G>A (p.=)
n.327G>A
n.2742-146G>A
c.1-69102G>A (p.=)
5g.36995479_36995480delCA810296173NIPBLc.3122-143_3122-142del (p.=)
c.2378-143_2378-142del (p.=)
c.3122-5338_3122-5337del (p.=)
c.2462-143_2462-142del (p.=)
c.1505-143_1505-142del (p.=)
c.1496-143_1496-142del (p.=)
n.330_331del
n.2742-143_2742-142del
c.1-69099_1-69098del (p.=)
dbSNP
5g.36995480A>GCA117052541NIPBLc.3122-142A>G (p.=)
c.2378-142A>G (p.=)
c.3122-5337A>G (p.=)
c.2462-142A>G (p.=)
c.1505-142A>G (p.=)
c.1496-142A>G (p.=)
n.331A>G
n.2742-142A>G
c.1-69098A>G (p.=)
dbSNP gnomAD
5g.36995484T>CCA650141217NIPBLc.3122-138T>C (p.=)
c.2378-138T>C (p.=)
c.3122-5333T>C (p.=)
c.2462-138T>C (p.=)
c.1505-138T>C (p.=)
c.1496-138T>C (p.=)
n.335T>C
n.2742-138T>C
c.1-69094T>C (p.=)
COSMIC COSMIC
5g.36995489T>CCA810296177NIPBLc.3122-133T>C (p.=)
c.2378-133T>C (p.=)
c.3122-5328T>C (p.=)
c.2462-133T>C (p.=)
c.1505-133T>C (p.=)
c.1496-133T>C (p.=)
n.340T>C
n.2742-133T>C
c.1-69089T>C (p.=)
5g.36995492T>CCA117052548NIPBLc.3122-130T>C (p.=)
c.2378-130T>C (p.=)
c.3122-5325T>C (p.=)
c.2462-130T>C (p.=)
c.1505-130T>C (p.=)
c.1496-130T>C (p.=)
n.343T>C
n.2742-130T>C
c.1-69086T>C (p.=)
dbSNP gnomAD
5g.36995494G>CCA117052563NIPBLc.3122-128G>C (p.=)
c.2378-128G>C (p.=)
c.3122-5323G>C (p.=)
c.2462-128G>C (p.=)
c.1505-128G>C (p.=)
c.1496-128G>C (p.=)
n.345G>C
n.2742-128G>C
c.1-69084G>C (p.=)
dbSNP
5g.36995499T>ACA810296180NIPBLc.3122-123T>A (p.=)
c.2378-123T>A (p.=)
c.3122-5318T>A (p.=)
c.2462-123T>A (p.=)
c.1505-123T>A (p.=)
c.1496-123T>A (p.=)
n.350T>A
n.2742-123T>A
c.1-69079T>A (p.=)
5g.36995501A>CCA559021891NIPBLc.3122-121A>C (p.=)
c.2378-121A>C (p.=)
c.3122-5316A>C (p.=)
c.2462-121A>C (p.=)
c.1505-121A>C (p.=)
c.1496-121A>C (p.=)
n.352A>C
n.2742-121A>C
c.1-69077A>C (p.=)
gnomAD
5g.36995507dupCA117052564NIPBLc.3122-115dup (p.=)
c.2378-115dup (p.=)
c.3122-5310dup (p.=)
c.2462-115dup (p.=)
c.1505-115dup (p.=)
c.1496-115dup (p.=)
n.358dup
n.2742-115dup
c.1-69071dup (p.=)
dbSNP
5g.36995511dupCA559295087NIPBLc.3122-111dup (p.=)
c.2378-111dup (p.=)
c.3122-5306dup (p.=)
c.2462-111dup (p.=)
c.1505-111dup (p.=)
c.1496-111dup (p.=)
n.362dup
n.2742-111dup
c.1-69067dup (p.=)
dbSNP gnomAD
5g.36995513A>CCA810296193NIPBLc.3122-109A>C (p.=)
c.2378-109A>C (p.=)
c.3122-5304A>C (p.=)
c.2462-109A>C (p.=)
c.1505-109A>C (p.=)
c.1496-109A>C (p.=)
n.364A>C
n.2742-109A>C
c.1-69065A>C (p.=)
5g.36995522A>CCA117052565NIPBLc.3122-100A>C (p.=)
c.2378-100A>C (p.=)
c.3122-5295A>C (p.=)
c.2462-100A>C (p.=)
c.1505-100A>C (p.=)
c.1496-100A>C (p.=)
n.373A>C
n.2742-100A>C
c.1-69056A>C (p.=)
dbSNP gnomAD
5g.36995522A>GCA1075107955NIPBLc.3122-100A>G (p.=)
c.2378-100A>G (p.=)
c.3122-5295A>G (p.=)
c.2462-100A>G (p.=)
c.1505-100A>G (p.=)
c.1496-100A>G (p.=)
n.373A>G
n.2742-100A>G
c.1-69056A>G (p.=)
5g.36995526A>GCA810296197NIPBLc.3122-96A>G (p.=)
c.2378-96A>G (p.=)
c.3122-5291A>G (p.=)
c.2462-96A>G (p.=)
c.1505-96A>G (p.=)
c.1496-96A>G (p.=)
n.377A>G
n.2742-96A>G
c.1-69052A>G (p.=)
5g.36995526A>TCA117052570NIPBLc.3122-96A>T (p.=)
c.2378-96A>T (p.=)
c.3122-5291A>T (p.=)
c.2462-96A>T (p.=)
c.1505-96A>T (p.=)
c.1496-96A>T (p.=)
n.377A>T
n.2742-96A>T
c.1-69052A>T (p.=)
dbSNP
5g.36995529_36995530delCA559295088NIPBLc.3122-93_3122-92del (p.=)
c.2378-93_2378-92del (p.=)
c.3122-5288_3122-5287del (p.=)
c.2462-93_2462-92del (p.=)
c.1505-93_1505-92del (p.=)
c.1496-93_1496-92del (p.=)
n.380_381del
n.2742-93_2742-92del
c.1-69049_1-69048del (p.=)
dbSNP gnomAD
5g.36995545A>GCA810296202NIPBLc.3122-77A>G (p.=)
c.2378-77A>G (p.=)
c.3122-5272A>G (p.=)
c.2462-77A>G (p.=)
c.1505-77A>G (p.=)
c.1496-77A>G (p.=)
n.396A>G
n.2742-77A>G
c.1-69033A>G (p.=)
5g.36995546T>ACA810296206NIPBLc.3122-76T>A (p.=)
c.2378-76T>A (p.=)
c.3122-5271T>A (p.=)
c.2462-76T>A (p.=)
c.1505-76T>A (p.=)
c.1496-76T>A (p.=)
n.397T>A
n.2742-76T>A
c.1-69032T>A (p.=)
5g.36995547T>CCA117052573NIPBLc.3122-75T>C (p.=)
c.2378-75T>C (p.=)
c.3122-5270T>C (p.=)
c.2462-75T>C (p.=)
c.1505-75T>C (p.=)
c.1496-75T>C (p.=)
n.398T>C
n.2742-75T>C
c.1-69031T>C (p.=)
dbSNP gnomAD
5g.36995549T>CCA810296207NIPBLc.3122-73T>C (p.=)
c.2378-73T>C (p.=)
c.3122-5268T>C (p.=)
c.2462-73T>C (p.=)
c.1505-73T>C (p.=)
c.1496-73T>C (p.=)
n.400T>C
n.2742-73T>C
c.1-69029T>C (p.=)
5g.36995551_36995554delCA117052574NIPBLc.3122-71_3122-68del (p.=)
c.2378-71_2378-68del (p.=)
c.3122-5266_3122-5263del (p.=)
c.2462-71_2462-68del (p.=)
c.1505-71_1505-68del (p.=)
c.1496-71_1496-68del (p.=)
n.402_405del
n.2742-71_2742-68del
c.1-69027_1-69024del (p.=)
dbSNP gnomAD
5g.36995553A>TCA559295089NIPBLc.3122-69A>T (p.=)
c.2378-69A>T (p.=)
c.3122-5264A>T (p.=)
c.2462-69A>T (p.=)
c.1505-69A>T (p.=)
c.1496-69A>T (p.=)
n.404A>T
n.2742-69A>T
c.1-69025A>T (p.=)
gnomAD
5g.36995555delCA810296211NIPBLc.3122-67del (p.=)
c.2378-67del (p.=)
c.3122-5262del (p.=)
c.2462-67del (p.=)
c.1505-67del (p.=)
c.1496-67del (p.=)
n.406del
n.2742-67del
c.1-69023del (p.=)
dbSNP
5g.36995556_36995557delCA810296215NIPBLc.3122-66_3122-65del (p.=)
c.2378-66_2378-65del (p.=)
c.3122-5261_3122-5260del (p.=)
c.2462-66_2462-65del (p.=)
c.1505-66_1505-65del (p.=)
c.1496-66_1496-65del (p.=)
n.407_408del
n.2742-66_2742-65del
c.1-69022_1-69021del (p.=)
dbSNP
5g.36995565A>GCA810296220NIPBLc.3122-57A>G (p.=)
c.2378-57A>G (p.=)
c.3122-5252A>G (p.=)
c.2462-57A>G (p.=)
c.1505-57A>G (p.=)
c.1496-57A>G (p.=)
n.416A>G
n.2742-57A>G
c.1-69013A>G (p.=)
5g.36995567T>GCA810296222NIPBLc.3122-55T>G (p.=)
c.2378-55T>G (p.=)
c.3122-5250T>G (p.=)
c.2462-55T>G (p.=)
c.1505-55T>G (p.=)
c.1496-55T>G (p.=)
n.418T>G
n.2742-55T>G
c.1-69011T>G (p.=)
5g.36995575dupCA559295090NIPBLc.3122-47dup (p.=)
c.2378-47dup (p.=)
c.3122-5242dup (p.=)
c.2462-47dup (p.=)
c.1505-47dup (p.=)
c.1496-47dup (p.=)
n.426dup
n.2742-47dup
c.1-69003dup (p.=)
dbSNP gnomAD
5g.36995574T>GCA810296226NIPBLc.3122-48T>G (p.=)
c.2378-48T>G (p.=)
c.3122-5243T>G (p.=)
c.2462-48T>G (p.=)
c.1505-48T>G (p.=)
c.1496-48T>G (p.=)
n.425T>G
n.2742-48T>G
c.1-69004T>G (p.=)
5g.36995574_36995578delCA3236279NIPBLc.3122-48_3122-44del (p.=)
c.2378-48_2378-44del (p.=)
c.3122-5243_3122-5239del (p.=)
c.2462-48_2462-44del (p.=)
c.1505-48_1505-44del (p.=)
c.1496-48_1496-44del (p.=)
n.425_429del
n.2742-48_2742-44del
c.1-69004_1-69000del (p.=)
dbSNP ExAC gnomAD

Number of alleles fetched