Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15218723C>A | CA1535009 | NBAS | c.4418+50G>T c.4426+13699G>T c.943+50G>T c.2288+50G>T c.6432+50G>T (n.6432+50G>T) c.512+13699G>T (n.512+13699G>T) c.3575+50G>T n.6280+13699G>T c.6303+50G>T (n.6303+50G>T) c.5793+50G>T (n.5793+50G>T) c.4233+50G>T (n.4233+50G>T) c.4224+50G>T (n.4224+50G>T) n.6266+13699G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218723C= | CA2490796144 | NBAS | c.4418+50G= c.4426+13699G= c.943+50G= c.2288+50G= c.6432+50G= (n.6432+50G=) c.512+13699G= (n.512+13699G=) c.3575+50G= n.6280+13699G= c.6303+50G= (n.6303+50G=) c.5793+50G= (n.5793+50G=) c.4233+50G= (n.4233+50G=) c.4224+50G= (n.4224+50G=) n.6266+13699G= | |
2 | g.15218723C>T | CA1535008 | NBAS | c.4418+50G>A c.4426+13699G>A c.943+50G>A c.2288+50G>A c.6432+50G>A (n.6432+50G>A) c.512+13699G>A (n.512+13699G>A) c.3575+50G>A n.6280+13699G>A c.6303+50G>A (n.6303+50G>A) c.5793+50G>A (n.5793+50G>A) c.4233+50G>A (n.4233+50G>A) c.4224+50G>A (n.4224+50G>A) n.6266+13699G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218724G>A | CA1535010 | NBAS | c.4418+49C>T c.4426+13698C>T c.943+49C>T c.2288+49C>T c.6432+49C>T (n.6432+49C>T) c.512+13698C>T (n.512+13698C>T) c.3575+49C>T n.6280+13698C>T c.6303+49C>T (n.6303+49C>T) c.5793+49C>T (n.5793+49C>T) c.4233+49C>T (n.4233+49C>T) c.4224+49C>T (n.4224+49C>T) n.6266+13698C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218724G>C | CA2657931611 | NBAS | c.4418+49C>G c.4426+13698C>G c.943+49C>G c.2288+49C>G c.6432+49C>G (n.6432+49C>G) c.512+13698C>G (n.512+13698C>G) c.3575+49C>G n.6280+13698C>G c.6303+49C>G (n.6303+49C>G) c.5793+49C>G (n.5793+49C>G) c.4233+49C>G (n.4233+49C>G) c.4224+49C>G (n.4224+49C>G) n.6266+13698C>G | gnomAD v4 |
2 | g.15218724G= | CA2490796145 | NBAS | c.4418+49C= c.4426+13698C= c.943+49C= c.2288+49C= c.6432+49C= (n.6432+49C=) c.512+13698C= (n.512+13698C=) c.3575+49C= n.6280+13698C= c.6303+49C= (n.6303+49C=) c.5793+49C= (n.5793+49C=) c.4233+49C= (n.4233+49C=) c.4224+49C= (n.4224+49C=) n.6266+13698C= | |
2 | g.15218725G>A | CA758914810 | NBAS | c.4418+48C>T c.4426+13697C>T c.943+48C>T c.2288+48C>T c.6432+48C>T (n.6432+48C>T) c.512+13697C>T (n.512+13697C>T) c.3575+48C>T n.6280+13697C>T c.6303+48C>T (n.6303+48C>T) c.5793+48C>T (n.5793+48C>T) c.4233+48C>T (n.4233+48C>T) c.4224+48C>T (n.4224+48C>T) n.6266+13697C>T | dbSNP |
2 | g.15218725G= | CA2490796146 | NBAS | c.4418+48C= c.4426+13697C= c.943+48C= c.2288+48C= c.6432+48C= (n.6432+48C=) c.512+13697C= (n.512+13697C=) c.3575+48C= n.6280+13697C= c.6303+48C= (n.6303+48C=) c.5793+48C= (n.5793+48C=) c.4233+48C= (n.4233+48C=) c.4224+48C= (n.4224+48C=) n.6266+13697C= | |
2 | g.15218726C>A | CA2657931612 | NBAS | c.4418+47G>T c.4426+13696G>T c.943+47G>T c.2288+47G>T c.6432+47G>T (n.6432+47G>T) c.512+13696G>T (n.512+13696G>T) c.3575+47G>T n.6280+13696G>T c.6303+47G>T (n.6303+47G>T) c.5793+47G>T (n.5793+47G>T) c.4233+47G>T (n.4233+47G>T) c.4224+47G>T (n.4224+47G>T) n.6266+13696G>T | gnomAD v4 |
2 | g.15218727C>A | CA531314706 | NBAS | c.4418+46G>T c.4426+13695G>T c.943+46G>T c.2288+46G>T c.6432+46G>T (n.6432+46G>T) c.512+13695G>T (n.512+13695G>T) c.3575+46G>T n.6280+13695G>T c.6303+46G>T (n.6303+46G>T) c.5793+46G>T (n.5793+46G>T) c.4233+46G>T (n.4233+46G>T) c.4224+46G>T (n.4224+46G>T) n.6266+13695G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218727C= | CA2490796147 | NBAS | c.4418+46G= c.4426+13695G= c.943+46G= c.2288+46G= c.6432+46G= (n.6432+46G=) c.512+13695G= (n.512+13695G=) c.3575+46G= n.6280+13695G= c.6303+46G= (n.6303+46G=) c.5793+46G= (n.5793+46G=) c.4233+46G= (n.4233+46G=) c.4224+46G= (n.4224+46G=) n.6266+13695G= | |
2 | g.15218727C>T | CA2657931613 | NBAS | c.4418+46G>A c.4426+13695G>A c.943+46G>A c.2288+46G>A c.6432+46G>A (n.6432+46G>A) c.512+13695G>A (n.512+13695G>A) c.3575+46G>A n.6280+13695G>A c.6303+46G>A (n.6303+46G>A) c.5793+46G>A (n.5793+46G>A) c.4233+46G>A (n.4233+46G>A) c.4224+46G>A (n.4224+46G>A) n.6266+13695G>A | gnomAD v4 |
2 | g.15218729A= | CA2490796148 | NBAS | c.4418+44T= c.4426+13693T= c.943+44T= c.2288+44T= c.6432+44T= (n.6432+44T=) c.512+13693T= (n.512+13693T=) c.3575+44T= n.6280+13693T= c.6303+44T= (n.6303+44T=) c.5793+44T= (n.5793+44T=) c.4233+44T= (n.4233+44T=) c.4224+44T= (n.4224+44T=) n.6266+13693T= | |
2 | g.15218729A>G | CA2490796149 | NBAS | c.4418+44T>C c.4426+13693T>C c.943+44T>C c.2288+44T>C c.6432+44T>C (n.6432+44T>C) c.512+13693T>C (n.512+13693T>C) c.3575+44T>C n.6280+13693T>C c.6303+44T>C (n.6303+44T>C) c.5793+44T>C (n.5793+44T>C) c.4233+44T>C (n.4233+44T>C) c.4224+44T>C (n.4224+44T>C) n.6266+13693T>C | dbSNP |
2 | g.15218731T>C | CA2657931614 | NBAS | c.4418+42A>G c.4426+13691A>G c.943+42A>G c.2288+42A>G c.6432+42A>G (n.6432+42A>G) c.512+13691A>G (n.512+13691A>G) c.3575+42A>G n.6280+13691A>G c.6303+42A>G (n.6303+42A>G) c.5793+42A>G (n.5793+42A>G) c.4233+42A>G (n.4233+42A>G) c.4224+42A>G (n.4224+42A>G) n.6266+13691A>G | gnomAD v4 |
2 | g.15218732T>C | CA2657931615 | NBAS | c.4418+41A>G c.4426+13690A>G c.943+41A>G c.2288+41A>G c.6432+41A>G (n.6432+41A>G) c.512+13690A>G (n.512+13690A>G) c.3575+41A>G n.6280+13690A>G c.6303+41A>G (n.6303+41A>G) c.5793+41A>G (n.5793+41A>G) c.4233+41A>G (n.4233+41A>G) c.4224+41A>G (n.4224+41A>G) n.6266+13690A>G | gnomAD v4 |
2 | g.15218733A= | CA2490796150 | NBAS | c.4418+40T= c.4426+13689T= c.943+40T= c.2288+40T= c.6432+40T= (n.6432+40T=) c.512+13689T= (n.512+13689T=) c.3575+40T= n.6280+13689T= c.6303+40T= (n.6303+40T=) c.5793+40T= (n.5793+40T=) c.4233+40T= (n.4233+40T=) c.4224+40T= (n.4224+40T=) n.6266+13689T= | |
2 | g.15218733A>C | CA2490796151 | NBAS | c.4418+40T>G c.4426+13689T>G c.943+40T>G c.2288+40T>G c.6432+40T>G (n.6432+40T>G) c.512+13689T>G (n.512+13689T>G) c.3575+40T>G n.6280+13689T>G c.6303+40T>G (n.6303+40T>G) c.5793+40T>G (n.5793+40T>G) c.4233+40T>G (n.4233+40T>G) c.4224+40T>G (n.4224+40T>G) n.6266+13689T>G | dbSNP |
2 | g.15218734T>C | CA531314707 | NBAS | c.4418+39A>G c.4426+13688A>G c.943+39A>G c.2288+39A>G c.6432+39A>G (n.6432+39A>G) c.512+13688A>G (n.512+13688A>G) c.3575+39A>G n.6280+13688A>G c.6303+39A>G (n.6303+39A>G) c.5793+39A>G (n.5793+39A>G) c.4233+39A>G (n.4233+39A>G) c.4224+39A>G (n.4224+39A>G) n.6266+13688A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218734T= | CA2490796152 | NBAS | c.4418+39A= c.4426+13688A= c.943+39A= c.2288+39A= c.6432+39A= (n.6432+39A=) c.512+13688A= (n.512+13688A=) c.3575+39A= n.6280+13688A= c.6303+39A= (n.6303+39A=) c.5793+39A= (n.5793+39A=) c.4233+39A= (n.4233+39A=) c.4224+39A= (n.4224+39A=) n.6266+13688A= | |
2 | g.15218735T>A | CA2490796154 | NBAS | c.4418+38A>T c.4426+13687A>T c.943+38A>T c.2288+38A>T c.6432+38A>T (n.6432+38A>T) c.512+13687A>T (n.512+13687A>T) c.3575+38A>T n.6280+13687A>T c.6303+38A>T (n.6303+38A>T) c.5793+38A>T (n.5793+38A>T) c.4233+38A>T (n.4233+38A>T) c.4224+38A>T (n.4224+38A>T) n.6266+13687A>T | dbSNP gnomAD v4 |
2 | g.15218735T>C | CA2490796153 | NBAS | c.4418+38A>G c.4426+13687A>G c.943+38A>G c.2288+38A>G c.6432+38A>G (n.6432+38A>G) c.512+13687A>G (n.512+13687A>G) c.3575+38A>G n.6280+13687A>G c.6303+38A>G (n.6303+38A>G) c.5793+38A>G (n.5793+38A>G) c.4233+38A>G (n.4233+38A>G) c.4224+38A>G (n.4224+38A>G) n.6266+13687A>G | dbSNP |
2 | g.15218735T= | CA2490796155 | NBAS | c.4418+38A= c.4426+13687A= c.943+38A= c.2288+38A= c.6432+38A= (n.6432+38A=) c.512+13687A= (n.512+13687A=) c.3575+38A= n.6280+13687A= c.6303+38A= (n.6303+38A=) c.5793+38A= (n.5793+38A=) c.4233+38A= (n.4233+38A=) c.4224+38A= (n.4224+38A=) n.6266+13687A= | |
2 | g.15218735_15218739delinsTGTTA | CA2490796156 | NBAS | c.4418+34_4418+38delinsTAACA c.4426+13683_4426+13687delinsTAACA c.943+34_943+38delinsTAACA c.2288+34_2288+38delinsTAACA c.6432+34_6432+38delinsTAACA (n.6432+34_6432+38delinsTAACA) c.512+13683_512+13687delinsTAACA (n.512+13683_512+13687delinsTAACA) c.3575+34_3575+38delinsTAACA n.6280+13683_6280+13687delinsTAACA c.6303+34_6303+38delinsTAACA (n.6303+34_6303+38delinsTAACA) c.5793+34_5793+38delinsTAACA (n.5793+34_5793+38delinsTAACA) c.4233+34_4233+38delinsTAACA (n.4233+34_4233+38delinsTAACA) c.4224+34_4224+38delinsTAACA (n.4224+34_4224+38delinsTAACA) n.6266+13683_6266+13687delinsTAACA | |
2 | g.15218736G>A | CA1535011 | NBAS | c.4418+37C>T c.4426+13686C>T c.943+37C>T c.2288+37C>T c.6432+37C>T (n.6432+37C>T) c.512+13686C>T (n.512+13686C>T) c.3575+37C>T n.6280+13686C>T c.6303+37C>T (n.6303+37C>T) c.5793+37C>T (n.5793+37C>T) c.4233+37C>T (n.4233+37C>T) c.4224+37C>T (n.4224+37C>T) n.6266+13686C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218736G= | CA2490796157 | NBAS | c.4418+37C= c.4426+13686C= c.943+37C= c.2288+37C= c.6432+37C= (n.6432+37C=) c.512+13686C= (n.512+13686C=) c.3575+37C= n.6280+13686C= c.6303+37C= (n.6303+37C=) c.5793+37C= (n.5793+37C=) c.4233+37C= (n.4233+37C=) c.4224+37C= (n.4224+37C=) n.6266+13686C= | |
2 | g.15218738_15218741del | CA531314708 | NBAS | c.4418+34_4418+37del c.4426+13683_4426+13686del c.943+34_943+37del c.2288+34_2288+37del c.6432+34_6432+37del (n.6432+34_6432+37del) c.512+13683_512+13686del (n.512+13683_512+13686del) c.3575+34_3575+37del n.6280+13683_6280+13686del c.6303+34_6303+37del (n.6303+34_6303+37del) c.5793+34_5793+37del (n.5793+34_5793+37del) c.4233+34_4233+37del (n.4233+34_4233+37del) c.4224+34_4224+37del (n.4224+34_4224+37del) n.6266+13683_6266+13686del | dbSNP gnomAD v2 |
2 | g.15218737T>C | CA42584238 | NBAS | c.4418+36A>G c.4426+13685A>G c.943+36A>G c.2288+36A>G c.6432+36A>G (n.6432+36A>G) c.512+13685A>G (n.512+13685A>G) c.3575+36A>G n.6280+13685A>G c.6303+36A>G (n.6303+36A>G) c.5793+36A>G (n.5793+36A>G) c.4233+36A>G (n.4233+36A>G) c.4224+36A>G (n.4224+36A>G) n.6266+13685A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218737T= | CA2490796158 | NBAS | c.4418+36A= c.4426+13685A= c.943+36A= c.2288+36A= c.6432+36A= (n.6432+36A=) c.512+13685A= (n.512+13685A=) c.3575+36A= n.6280+13685A= c.6303+36A= (n.6303+36A=) c.5793+36A= (n.5793+36A=) c.4233+36A= (n.4233+36A=) c.4224+36A= (n.4224+36A=) n.6266+13685A= | |
2 | g.15218738T>C | CA2576680238 | NBAS | c.4418+35A>G c.4426+13684A>G c.943+35A>G c.2288+35A>G c.6432+35A>G (n.6432+35A>G) c.512+13684A>G (n.512+13684A>G) c.3575+35A>G n.6280+13684A>G c.6303+35A>G (n.6303+35A>G) c.5793+35A>G (n.5793+35A>G) c.4233+35A>G (n.4233+35A>G) c.4224+35A>G (n.4224+35A>G) n.6266+13684A>G | gnomAD v4 |
2 | g.15218738T>G | CA42584241 | NBAS | c.4418+35A>C c.4426+13684A>C c.943+35A>C c.2288+35A>C c.6432+35A>C (n.6432+35A>C) c.512+13684A>C (n.512+13684A>C) c.3575+35A>C n.6280+13684A>C c.6303+35A>C (n.6303+35A>C) c.5793+35A>C (n.5793+35A>C) c.4233+35A>C (n.4233+35A>C) c.4224+35A>C (n.4224+35A>C) n.6266+13684A>C | dbSNP gnomAD v4 |
2 | g.15218738T= | CA2490796159 | NBAS | c.4418+35A= c.4426+13684A= c.943+35A= c.2288+35A= c.6432+35A= (n.6432+35A=) c.512+13684A= (n.512+13684A=) c.3575+35A= n.6280+13684A= c.6303+35A= (n.6303+35A=) c.5793+35A= (n.5793+35A=) c.4233+35A= (n.4233+35A=) c.4224+35A= (n.4224+35A=) n.6266+13684A= | |
2 | g.15218740G>A | CA1535012 | NBAS | c.4418+33C>T c.4426+13682C>T c.943+33C>T c.2288+33C>T c.6432+33C>T (n.6432+33C>T) c.512+13682C>T (n.512+13682C>T) c.3575+33C>T n.6280+13682C>T c.6303+33C>T (n.6303+33C>T) c.5793+33C>T (n.5793+33C>T) c.4233+33C>T (n.4233+33C>T) c.4224+33C>T (n.4224+33C>T) n.6266+13682C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218740G>C | CA531314709 | NBAS | c.4418+33C>G c.4426+13682C>G c.943+33C>G c.2288+33C>G c.6432+33C>G (n.6432+33C>G) c.512+13682C>G (n.512+13682C>G) c.3575+33C>G n.6280+13682C>G c.6303+33C>G (n.6303+33C>G) c.5793+33C>G (n.5793+33C>G) c.4233+33C>G (n.4233+33C>G) c.4224+33C>G (n.4224+33C>G) n.6266+13682C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218740G= | CA2490796160 | NBAS | c.4418+33C= c.4426+13682C= c.943+33C= c.2288+33C= c.6432+33C= (n.6432+33C=) c.512+13682C= (n.512+13682C=) c.3575+33C= n.6280+13682C= c.6303+33C= (n.6303+33C=) c.5793+33C= (n.5793+33C=) c.4233+33C= (n.4233+33C=) c.4224+33C= (n.4224+33C=) n.6266+13682C= | |
2 | g.15218740G>T | CA2657931616 | NBAS | c.4418+33C>A c.4426+13682C>A c.943+33C>A c.2288+33C>A c.6432+33C>A (n.6432+33C>A) c.512+13682C>A (n.512+13682C>A) c.3575+33C>A n.6280+13682C>A c.6303+33C>A (n.6303+33C>A) c.5793+33C>A (n.5793+33C>A) c.4233+33C>A (n.4233+33C>A) c.4224+33C>A (n.4224+33C>A) n.6266+13682C>A | gnomAD v4 |
2 | g.15218741T>C | CA531314710 | NBAS | c.4418+32A>G c.4426+13681A>G c.943+32A>G c.2288+32A>G c.6432+32A>G (n.6432+32A>G) c.512+13681A>G (n.512+13681A>G) c.3575+32A>G n.6280+13681A>G c.6303+32A>G (n.6303+32A>G) c.5793+32A>G (n.5793+32A>G) c.4233+32A>G (n.4233+32A>G) c.4224+32A>G (n.4224+32A>G) n.6266+13681A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218741T= | CA2490796161 | NBAS | c.4418+32A= c.4426+13681A= c.943+32A= c.2288+32A= c.6432+32A= (n.6432+32A=) c.512+13681A= (n.512+13681A=) c.3575+32A= n.6280+13681A= c.6303+32A= (n.6303+32A=) c.5793+32A= (n.5793+32A=) c.4233+32A= (n.4233+32A=) c.4224+32A= (n.4224+32A=) n.6266+13681A= | |
2 | g.15218742A= | CA2490796162 | NBAS | c.4418+31T= c.4426+13680T= c.943+31T= c.2288+31T= c.6432+31T= (n.6432+31T=) c.512+13680T= (n.512+13680T=) c.3575+31T= n.6280+13680T= c.6303+31T= (n.6303+31T=) c.5793+31T= (n.5793+31T=) c.4233+31T= (n.4233+31T=) c.4224+31T= (n.4224+31T=) n.6266+13680T= | |
2 | g.15218742A>G | CA531314711 | NBAS | c.4418+31T>C c.4426+13680T>C c.943+31T>C c.2288+31T>C c.6432+31T>C (n.6432+31T>C) c.512+13680T>C (n.512+13680T>C) c.3575+31T>C n.6280+13680T>C c.6303+31T>C (n.6303+31T>C) c.5793+31T>C (n.5793+31T>C) c.4233+31T>C (n.4233+31T>C) c.4224+31T>C (n.4224+31T>C) n.6266+13680T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218743A>T | CA2657931617 | NBAS | c.4418+30T>A c.4426+13679T>A c.943+30T>A c.2288+30T>A c.6432+30T>A (n.6432+30T>A) c.512+13679T>A (n.512+13679T>A) c.3575+30T>A n.6280+13679T>A c.6303+30T>A (n.6303+30T>A) c.5793+30T>A (n.5793+30T>A) c.4233+30T>A (n.4233+30T>A) c.4224+30T>A (n.4224+30T>A) n.6266+13679T>A | gnomAD v4 |
2 | g.15218744G>A | CA1535013 | NBAS | c.4418+29C>T c.4426+13678C>T c.943+29C>T c.2288+29C>T c.6432+29C>T (n.6432+29C>T) c.512+13678C>T (n.512+13678C>T) c.3575+29C>T n.6280+13678C>T c.6303+29C>T (n.6303+29C>T) c.5793+29C>T (n.5793+29C>T) c.4233+29C>T (n.4233+29C>T) c.4224+29C>T (n.4224+29C>T) n.6266+13678C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218744G= | CA2490796163 | NBAS | c.4418+29C= c.4426+13678C= c.943+29C= c.2288+29C= c.6432+29C= (n.6432+29C=) c.512+13678C= (n.512+13678C=) c.3575+29C= n.6280+13678C= c.6303+29C= (n.6303+29C=) c.5793+29C= (n.5793+29C=) c.4233+29C= (n.4233+29C=) c.4224+29C= (n.4224+29C=) n.6266+13678C= | |
2 | g.15218746A>G | CA2657931618 | NBAS | c.4418+27T>C c.4426+13676T>C c.943+27T>C c.2288+27T>C c.6432+27T>C (n.6432+27T>C) c.512+13676T>C (n.512+13676T>C) c.3575+27T>C n.6280+13676T>C c.6303+27T>C (n.6303+27T>C) c.5793+27T>C (n.5793+27T>C) c.4233+27T>C (n.4233+27T>C) c.4224+27T>C (n.4224+27T>C) n.6266+13676T>C | gnomAD v4 |
2 | g.15218749A= | CA2490796164 | NBAS | c.4418+24T= c.4426+13673T= c.943+24T= c.2288+24T= c.6432+24T= (n.6432+24T=) c.512+13673T= (n.512+13673T=) c.3575+24T= n.6280+13673T= c.6303+24T= (n.6303+24T=) c.5793+24T= (n.5793+24T=) c.4233+24T= (n.4233+24T=) c.4224+24T= (n.4224+24T=) n.6266+13673T= | |
2 | g.15218749A>G | CA42584245 | NBAS | c.4418+24T>C c.4426+13673T>C c.943+24T>C c.2288+24T>C c.6432+24T>C (n.6432+24T>C) c.512+13673T>C (n.512+13673T>C) c.3575+24T>C n.6280+13673T>C c.6303+24T>C (n.6303+24T>C) c.5793+24T>C (n.5793+24T>C) c.4233+24T>C (n.4233+24T>C) c.4224+24T>C (n.4224+24T>C) n.6266+13673T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218749A>T | CA2657931619 | NBAS | c.4418+24T>A c.4426+13673T>A c.943+24T>A c.2288+24T>A c.6432+24T>A (n.6432+24T>A) c.512+13673T>A (n.512+13673T>A) c.3575+24T>A n.6280+13673T>A c.6303+24T>A (n.6303+24T>A) c.5793+24T>A (n.5793+24T>A) c.4233+24T>A (n.4233+24T>A) c.4224+24T>A (n.4224+24T>A) n.6266+13673T>A | gnomAD v4 |
2 | g.15218753T>A | CA2657931620 | NBAS | c.4418+20A>T c.4426+13669A>T c.943+20A>T c.2288+20A>T c.6432+20A>T (n.6432+20A>T) c.512+13669A>T (n.512+13669A>T) c.3575+20A>T n.6280+13669A>T c.6303+20A>T (n.6303+20A>T) c.5793+20A>T (n.5793+20A>T) c.4233+20A>T (n.4233+20A>T) c.4224+20A>T (n.4224+20A>T) n.6266+13669A>T | gnomAD v4 |
2 | g.15218755A>G | CA2697547822 | NBAS | c.4418+18T>C c.4426+13667T>C c.943+18T>C c.2288+18T>C c.6432+18T>C (n.6432+18T>C) c.512+13667T>C (n.512+13667T>C) c.3575+18T>C n.6280+13667T>C c.6303+18T>C (n.6303+18T>C) c.5793+18T>C (n.5793+18T>C) c.4233+18T>C (n.4233+18T>C) c.4224+18T>C (n.4224+18T>C) n.6266+13667T>C | ClinVar |
2 | g.15218756T>C | CA1027848552 | NBAS | c.4418+17A>G c.4426+13666A>G c.943+17A>G c.2288+17A>G c.6432+17A>G (n.6432+17A>G) c.512+13666A>G (n.512+13666A>G) c.3575+17A>G n.6280+13666A>G c.6303+17A>G (n.6303+17A>G) c.5793+17A>G (n.5793+17A>G) c.4233+17A>G (n.4233+17A>G) c.4224+17A>G (n.4224+17A>G) n.6266+13666A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218756T= | CA2490796165 | NBAS | c.4418+17A= c.4426+13666A= c.943+17A= c.2288+17A= c.6432+17A= (n.6432+17A=) c.512+13666A= (n.512+13666A=) c.3575+17A= n.6280+13666A= c.6303+17A= (n.6303+17A=) c.5793+17A= (n.5793+17A=) c.4233+17A= (n.4233+17A=) c.4224+17A= (n.4224+17A=) n.6266+13666A= | |
2 | g.15218758C>T | CA2657931621 | NBAS | c.4418+15G>A c.4426+13664G>A c.943+15G>A c.2288+15G>A c.6432+15G>A (n.6432+15G>A) c.512+13664G>A (n.512+13664G>A) c.3575+15G>A n.6280+13664G>A c.6303+15G>A (n.6303+15G>A) c.5793+15G>A (n.5793+15G>A) c.4233+15G>A (n.4233+15G>A) c.4224+15G>A (n.4224+15G>A) n.6266+13664G>A | gnomAD v4 |
2 | g.15218759A>G | CA2576680239 | NBAS | c.4418+14T>C c.4426+13663T>C c.943+14T>C c.2288+14T>C c.6432+14T>C (n.6432+14T>C) c.512+13663T>C (n.512+13663T>C) c.3575+14T>C n.6280+13663T>C c.6303+14T>C (n.6303+14T>C) c.5793+14T>C (n.5793+14T>C) c.4233+14T>C (n.4233+14T>C) c.4224+14T>C (n.4224+14T>C) n.6266+13663T>C | gnomAD v4 |
2 | g.15218760G>A | CA2490796167 | NBAS | c.4418+13C>T c.4426+13662C>T c.943+13C>T c.2288+13C>T c.6432+13C>T (n.6432+13C>T) c.512+13662C>T (n.512+13662C>T) c.3575+13C>T n.6280+13662C>T c.6303+13C>T (n.6303+13C>T) c.5793+13C>T (n.5793+13C>T) c.4233+13C>T (n.4233+13C>T) c.4224+13C>T (n.4224+13C>T) n.6266+13662C>T | dbSNP gnomAD v4 |
2 | g.15218760G= | CA2490796166 | NBAS | c.4418+13C= c.4426+13662C= c.943+13C= c.2288+13C= c.6432+13C= (n.6432+13C=) c.512+13662C= (n.512+13662C=) c.3575+13C= n.6280+13662C= c.6303+13C= (n.6303+13C=) c.5793+13C= (n.5793+13C=) c.4233+13C= (n.4233+13C=) c.4224+13C= (n.4224+13C=) n.6266+13662C= | |
2 | g.15218760G>T | CA2657931622 | NBAS | c.4418+13C>A c.4426+13662C>A c.943+13C>A c.2288+13C>A c.6432+13C>A (n.6432+13C>A) c.512+13662C>A (n.512+13662C>A) c.3575+13C>A n.6280+13662C>A c.6303+13C>A (n.6303+13C>A) c.5793+13C>A (n.5793+13C>A) c.4233+13C>A (n.4233+13C>A) c.4224+13C>A (n.4224+13C>A) n.6266+13662C>A | gnomAD v4 |
2 | g.15218762C>T | CA2573133153 | NBAS | c.4418+11G>A c.4426+13660G>A c.943+11G>A c.2288+11G>A c.6432+11G>A (n.6432+11G>A) c.512+13660G>A (n.512+13660G>A) c.3575+11G>A n.6280+13660G>A c.6303+11G>A (n.6303+11G>A) c.5793+11G>A (n.5793+11G>A) c.4233+11G>A (n.4233+11G>A) c.4224+11G>A (n.4224+11G>A) n.6266+13660G>A | ClinVar dbSNP |
2 | g.15218762_15218763delinsCA | CA2490796168 | NBAS | c.4418+10_4418+11delinsTG c.4426+13659_4426+13660delinsTG c.943+10_943+11delinsTG c.2288+10_2288+11delinsTG c.6432+10_6432+11delinsTG (n.6432+10_6432+11delinsTG) c.512+13659_512+13660delinsTG (n.512+13659_512+13660delinsTG) c.3575+10_3575+11delinsTG n.6280+13659_6280+13660delinsTG c.6303+10_6303+11delinsTG (n.6303+10_6303+11delinsTG) c.5793+10_5793+11delinsTG (n.5793+10_5793+11delinsTG) c.4233+10_4233+11delinsTG (n.4233+10_4233+11delinsTG) c.4224+10_4224+11delinsTG (n.4224+10_4224+11delinsTG) n.6266+13659_6266+13660delinsTG | |
2 | g.15218763del | CA531314712 | NBAS | c.4418+10del c.4426+13659del c.943+10del c.2288+10del c.6432+10del (n.6432+10del) c.512+13659del (n.512+13659del) c.3575+10del n.6280+13659del c.6303+10del (n.6303+10del) c.5793+10del (n.5793+10del) c.4233+10del (n.4233+10del) c.4224+10del (n.4224+10del) n.6266+13659del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218763A= | CA2490796169 | NBAS | c.4418+10T= c.4426+13659T= c.943+10T= c.2288+10T= c.6432+10T= (n.6432+10T=) c.512+13659T= (n.512+13659T=) c.3575+10T= n.6280+13659T= c.6303+10T= (n.6303+10T=) c.5793+10T= (n.5793+10T=) c.4233+10T= (n.4233+10T=) c.4224+10T= (n.4224+10T=) n.6266+13659T= | |
2 | g.15218763A>C | CA2657931623 | NBAS | c.4418+10T>G c.4426+13659T>G c.943+10T>G c.2288+10T>G c.6432+10T>G (n.6432+10T>G) c.512+13659T>G (n.512+13659T>G) c.3575+10T>G n.6280+13659T>G c.6303+10T>G (n.6303+10T>G) c.5793+10T>G (n.5793+10T>G) c.4233+10T>G (n.4233+10T>G) c.4224+10T>G (n.4224+10T>G) n.6266+13659T>G | gnomAD v4 |
2 | g.15218763A>G | CA1535014 | NBAS | c.4418+10T>C c.4426+13659T>C c.943+10T>C c.2288+10T>C c.6432+10T>C (n.6432+10T>C) c.512+13659T>C (n.512+13659T>C) c.3575+10T>C n.6280+13659T>C c.6303+10T>C (n.6303+10T>C) c.5793+10T>C (n.5793+10T>C) c.4233+10T>C (n.4233+10T>C) c.4224+10T>C (n.4224+10T>C) n.6266+13659T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218765T>C | CA2490796171 | NBAS | c.4418+8A>G c.4426+13657A>G c.943+8A>G c.2288+8A>G c.6432+8A>G (n.6432+8A>G) c.512+13657A>G (n.512+13657A>G) c.3575+8A>G n.6280+13657A>G c.6303+8A>G (n.6303+8A>G) c.5793+8A>G (n.5793+8A>G) c.4233+8A>G (n.4233+8A>G) c.4224+8A>G (n.4224+8A>G) n.6266+13657A>G | dbSNP |
2 | g.15218765T= | CA2490796170 | NBAS | c.4418+8A= c.4426+13657A= c.943+8A= c.2288+8A= c.6432+8A= (n.6432+8A=) c.512+13657A= (n.512+13657A=) c.3575+8A= n.6280+13657A= c.6303+8A= (n.6303+8A=) c.5793+8A= (n.5793+8A=) c.4233+8A= (n.4233+8A=) c.4224+8A= (n.4224+8A=) n.6266+13657A= | |
2 | g.15218766C>A | CA531314713 | NBAS | c.4418+7G>T c.4426+13656G>T c.943+7G>T c.2288+7G>T c.6432+7G>T (n.6432+7G>T) c.512+13656G>T (n.512+13656G>T) c.3575+7G>T n.6280+13656G>T c.6303+7G>T (n.6303+7G>T) c.5793+7G>T (n.5793+7G>T) c.4233+7G>T (n.4233+7G>T) c.4224+7G>T (n.4224+7G>T) n.6266+13656G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218766C= | CA2490796172 | NBAS | c.4418+7G= c.4426+13656G= c.943+7G= c.2288+7G= c.6432+7G= (n.6432+7G=) c.512+13656G= (n.512+13656G=) c.3575+7G= n.6280+13656G= c.6303+7G= (n.6303+7G=) c.5793+7G= (n.5793+7G=) c.4233+7G= (n.4233+7G=) c.4224+7G= (n.4224+7G=) n.6266+13656G= | |
2 | g.15218766C>G | CA1535015 | NBAS | c.4418+7G>C c.4426+13656G>C c.943+7G>C c.2288+7G>C c.6432+7G>C (n.6432+7G>C) c.512+13656G>C (n.512+13656G>C) c.3575+7G>C n.6280+13656G>C c.6303+7G>C (n.6303+7G>C) c.5793+7G>C (n.5793+7G>C) c.4233+7G>C (n.4233+7G>C) c.4224+7G>C (n.4224+7G>C) n.6266+13656G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218766C>T | CA1535016 | NBAS | c.4418+7G>A c.4426+13656G>A c.943+7G>A c.2288+7G>A c.6432+7G>A (n.6432+7G>A) c.512+13656G>A (n.512+13656G>A) c.3575+7G>A n.6280+13656G>A c.6303+7G>A (n.6303+7G>A) c.5793+7G>A (n.5793+7G>A) c.4233+7G>A (n.4233+7G>A) c.4224+7G>A (n.4224+7G>A) n.6266+13656G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218767C>T | CA2576680240 | NBAS | c.4418+6G>A c.4426+13655G>A c.943+6G>A c.2288+6G>A c.6432+6G>A (n.6432+6G>A) c.512+13655G>A (n.512+13655G>A) c.3575+6G>A n.6280+13655G>A c.6303+6G>A (n.6303+6G>A) c.5793+6G>A (n.5793+6G>A) c.4233+6G>A (n.4233+6G>A) c.4224+6G>A (n.4224+6G>A) n.6266+13655G>A | gnomAD v4 |
2 | g.15218768C>A | CA2490796174 | NBAS | c.4418+5G>T c.4426+13654G>T c.943+5G>T c.2288+5G>T c.6432+5G>T (n.6432+5G>T) c.512+13654G>T (n.512+13654G>T) c.3575+5G>T n.6280+13654G>T c.6303+5G>T (n.6303+5G>T) c.5793+5G>T (n.5793+5G>T) c.4233+5G>T (n.4233+5G>T) c.4224+5G>T (n.4224+5G>T) n.6266+13654G>T | dbSNP gnomAD v4 |
2 | g.15218768C= | CA2490796173 | NBAS | c.4418+5G= c.4426+13654G= c.943+5G= c.2288+5G= c.6432+5G= (n.6432+5G=) c.512+13654G= (n.512+13654G=) c.3575+5G= n.6280+13654G= c.6303+5G= (n.6303+5G=) c.5793+5G= (n.5793+5G=) c.4233+5G= (n.4233+5G=) c.4224+5G= (n.4224+5G=) n.6266+13654G= | |
2 | g.15218768C>G | CA42584258 | NBAS | c.4418+5G>C c.4426+13654G>C c.943+5G>C c.2288+5G>C c.6432+5G>C (n.6432+5G>C) c.512+13654G>C (n.512+13654G>C) c.3575+5G>C n.6280+13654G>C c.6303+5G>C (n.6303+5G>C) c.5793+5G>C (n.5793+5G>C) c.4233+5G>C (n.4233+5G>C) c.4224+5G>C (n.4224+5G>C) n.6266+13654G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218768C>T | CA2657931624 | NBAS | c.4418+5G>A c.4426+13654G>A c.943+5G>A c.2288+5G>A c.6432+5G>A (n.6432+5G>A) c.512+13654G>A (n.512+13654G>A) c.3575+5G>A n.6280+13654G>A c.6303+5G>A (n.6303+5G>A) c.5793+5G>A (n.5793+5G>A) c.4233+5G>A (n.4233+5G>A) c.4224+5G>A (n.4224+5G>A) n.6266+13654G>A | gnomAD v4 |
2 | g.15218770T>C | CA2657931625 | NBAS | c.4418+3A>G c.4426+13652A>G c.943+3A>G c.2288+3A>G c.6432+3A>G (n.6432+3A>G) c.512+13652A>G (n.512+13652A>G) c.3575+3A>G n.6280+13652A>G c.6303+3A>G (n.6303+3A>G) c.5793+3A>G (n.5793+3A>G) c.4233+3A>G (n.4233+3A>G) c.4224+3A>G (n.4224+3A>G) n.6266+13652A>G | gnomAD v4 |
2 | g.15218771A>C | CA345883679 | NBAS | c.4418+2T>G c.4426+13651T>G c.943+2T>G c.2288+2T>G c.6432+2T>G (n.6432+2T>G) c.512+13651T>G (n.512+13651T>G) c.3575+2T>G n.6280+13651T>G c.6303+2T>G (n.6303+2T>G) c.5793+2T>G (n.5793+2T>G) c.4233+2T>G (n.4233+2T>G) c.4224+2T>G (n.4224+2T>G) n.6266+13651T>G | |
2 | g.15218771A>G | CA345883681 | NBAS | c.4418+2T>C c.4426+13651T>C c.943+2T>C c.2288+2T>C c.6432+2T>C (n.6432+2T>C) c.512+13651T>C (n.512+13651T>C) c.3575+2T>C n.6280+13651T>C c.6303+2T>C (n.6303+2T>C) c.5793+2T>C (n.5793+2T>C) c.4233+2T>C (n.4233+2T>C) c.4224+2T>C (n.4224+2T>C) n.6266+13651T>C | |
2 | g.15218771A>T | CA345883683 | NBAS | c.4418+2T>A c.4426+13651T>A c.943+2T>A c.2288+2T>A c.6432+2T>A (n.6432+2T>A) c.512+13651T>A (n.512+13651T>A) c.3575+2T>A n.6280+13651T>A c.6303+2T>A (n.6303+2T>A) c.5793+2T>A (n.5793+2T>A) c.4233+2T>A (n.4233+2T>A) c.4224+2T>A (n.4224+2T>A) n.6266+13651T>A | |
2 | g.15218772C>A | CA345883684 | NBAS | c.4418+1G>T c.4426+13650G>T c.943+1G>T c.2288+1G>T c.6432+1G>T (n.6432+1G>T) c.512+13650G>T (n.512+13650G>T) c.3575+1G>T n.6280+13650G>T c.6303+1G>T (n.6303+1G>T) c.5793+1G>T (n.5793+1G>T) c.4233+1G>T (n.4233+1G>T) c.4224+1G>T (n.4224+1G>T) n.6266+13650G>T | COSMIC |
2 | g.15218772C>G | CA345883686 | NBAS | c.4418+1G>C c.4426+13650G>C c.943+1G>C c.2288+1G>C c.6432+1G>C (n.6432+1G>C) c.512+13650G>C (n.512+13650G>C) c.3575+1G>C n.6280+13650G>C c.6303+1G>C (n.6303+1G>C) c.5793+1G>C (n.5793+1G>C) c.4233+1G>C (n.4233+1G>C) c.4224+1G>C (n.4224+1G>C) n.6266+13650G>C | |
2 | g.15218772C>T | CA345883687 | NBAS | c.4418+1G>A c.4426+13650G>A c.943+1G>A c.2288+1G>A c.6432+1G>A (n.6432+1G>A) c.512+13650G>A (n.512+13650G>A) c.3575+1G>A n.6280+13650G>A c.6303+1G>A (n.6303+1G>A) c.5793+1G>A (n.5793+1G>A) c.4233+1G>A (n.4233+1G>A) c.4224+1G>A (n.4224+1G>A) n.6266+13650G>A | |
2 | g.15218773C>A | CA345883688 | NBAS | c.4418G>T c.4426+13649G>T c.943G>T c.2288G>T c.6432G>T (p.Gln2144His) c.512+13649G>T (n.512+13649G>T) c.3575G>T n.6280+13649G>T c.6303G>T (p.Gln2101His) c.5793G>T (p.Gln1931His) c.4233G>T (p.Gln1411His) c.4224G>T (p.Gln1408His) n.6266+13649G>T | |
2 | g.15218773C>G | CA345883691 | NBAS | c.4418G>C c.4426+13649G>C c.943G>C c.2288G>C c.6432G>C (p.Gln2144His) c.512+13649G>C (n.512+13649G>C) c.3575G>C n.6280+13649G>C c.6303G>C (p.Gln2101His) c.5793G>C (p.Gln1931His) c.4233G>C (p.Gln1411His) c.4224G>C (p.Gln1408His) n.6266+13649G>C | |
2 | g.15218773C>T | CA424866895 | NBAS | c.4418G>A c.4426+13649G>A c.943G>A c.2288G>A c.6432G>A (p.Gln2144=) c.512+13649G>A (n.512+13649G>A) c.3575G>A n.6280+13649G>A c.6303G>A (p.Gln2101=) c.5793G>A (p.Gln1931=) c.4233G>A (p.Gln1411=) c.4224G>A (p.Gln1408=) n.6266+13649G>A | |
2 | g.15218774T>A | CA345883697 | NBAS | c.4417A>T c.4426+13648A>T c.942A>T c.2287A>T c.6431A>T (p.Gln2144Leu) c.512+13648A>T (n.512+13648A>T) c.3574A>T n.6280+13648A>T c.6302A>T (p.Gln2101Leu) c.5792A>T (p.Gln1931Leu) c.4232A>T (p.Gln1411Leu) c.4223A>T (p.Gln1408Leu) n.6266+13648A>T | COSMIC |
2 | g.15218774T>C | CA345883694 | NBAS | c.4417A>G c.4426+13648A>G c.942A>G c.2287A>G c.6431A>G (p.Gln2144Arg) c.512+13648A>G (n.512+13648A>G) c.3574A>G n.6280+13648A>G c.6302A>G (p.Gln2101Arg) c.5792A>G (p.Gln1931Arg) c.4232A>G (p.Gln1411Arg) c.4223A>G (p.Gln1408Arg) n.6266+13648A>G | gnomAD v4 |
2 | g.15218774T>G | CA42584265 | NBAS | c.4417A>C c.4426+13648A>C c.942A>C c.2287A>C c.6431A>C (p.Gln2144Pro) c.512+13648A>C (n.512+13648A>C) c.3574A>C n.6280+13648A>C c.6302A>C (p.Gln2101Pro) c.5792A>C (p.Gln1931Pro) c.4232A>C (p.Gln1411Pro) c.4223A>C (p.Gln1408Pro) n.6266+13648A>C | ClinVar dbSNP gnomAD v4 |
2 | g.15218774T= | CA2490796175 | NBAS | c.4417A= c.4426+13648A= c.942A= c.2287A= c.6431A= (p.Gln2144=) c.512+13648A= (n.512+13648A=) c.3574A= n.6280+13648A= c.6302A= (p.Gln2101=) c.5792A= (p.Gln1931=) c.4232A= (p.Gln1411=) c.4223A= (p.Gln1408=) n.6266+13648A= | |
2 | g.15218775G>A | CA345883699 | NBAS | c.4416C>T c.4426+13647C>T c.941C>T c.2286C>T c.6430C>T (p.Gln2144Ter) c.512+13647C>T (n.512+13647C>T) c.3573C>T n.6280+13647C>T c.6301C>T (p.Gln2101Ter) c.5791C>T (p.Gln1931Ter) c.4231C>T (p.Gln1411Ter) c.4222C>T (p.Gln1408Ter) n.6266+13647C>T | |
2 | g.15218775G>C | CA345883700 | NBAS | c.4416C>G c.4426+13647C>G c.941C>G c.2286C>G c.6430C>G (p.Gln2144Glu) c.512+13647C>G (n.512+13647C>G) c.3573C>G n.6280+13647C>G c.6301C>G (p.Gln2101Glu) c.5791C>G (p.Gln1931Glu) c.4231C>G (p.Gln1411Glu) c.4222C>G (p.Gln1408Glu) n.6266+13647C>G | |
2 | g.15218775G>T | CA345883701 | NBAS | c.4416C>A c.4426+13647C>A c.941C>A c.2286C>A c.6430C>A (p.Gln2144Lys) c.512+13647C>A (n.512+13647C>A) c.3573C>A n.6280+13647C>A c.6301C>A (p.Gln2101Lys) c.5791C>A (p.Gln1931Lys) c.4231C>A (p.Gln1411Lys) c.4222C>A (p.Gln1408Lys) n.6266+13647C>A | |
2 | g.15218776T>A | CA345883703 | NBAS | c.4415A>T c.4426+13646A>T c.940A>T c.2285A>T c.6429A>T (p.Arg2143Ser) c.512+13646A>T (n.512+13646A>T) c.3572A>T n.6280+13646A>T c.6300A>T (p.Arg2100Ser) c.5790A>T (p.Arg1930Ser) c.4230A>T (p.Arg1410Ser) c.4221A>T (p.Arg1407Ser) n.6266+13646A>T | |
2 | g.15218776T>C | CA424866896 | NBAS | c.4415A>G c.4426+13646A>G c.940A>G c.2285A>G c.6429A>G (p.Arg2143=) c.512+13646A>G (n.512+13646A>G) c.3572A>G n.6280+13646A>G c.6300A>G (p.Arg2100=) c.5790A>G (p.Arg1930=) c.4230A>G (p.Arg1410=) c.4221A>G (p.Arg1407=) n.6266+13646A>G | gnomAD v4 |
2 | g.15218776T>G | CA345883705 | NBAS | c.4415A>C c.4426+13646A>C c.940A>C c.2285A>C c.6429A>C (p.Arg2143Ser) c.512+13646A>C (n.512+13646A>C) c.3572A>C n.6280+13646A>C c.6300A>C (p.Arg2100Ser) c.5790A>C (p.Arg1930Ser) c.4230A>C (p.Arg1410Ser) c.4221A>C (p.Arg1407Ser) n.6266+13646A>C | |
2 | g.15218777C>A | CA345883707 | NBAS | c.4414G>T c.4426+13645G>T c.939G>T c.2284G>T c.6428G>T (p.Arg2143Ile) c.512+13645G>T (n.512+13645G>T) c.3571G>T n.6280+13645G>T c.6299G>T (p.Arg2100Ile) c.5789G>T (p.Arg1930Ile) c.4229G>T (p.Arg1410Ile) c.4220G>T (p.Arg1407Ile) n.6266+13645G>T | |
2 | g.15218777C>G | CA345883709 | NBAS | c.4414G>C c.4426+13645G>C c.939G>C c.2284G>C c.6428G>C (p.Arg2143Thr) c.512+13645G>C (n.512+13645G>C) c.3571G>C n.6280+13645G>C c.6299G>C (p.Arg2100Thr) c.5789G>C (p.Arg1930Thr) c.4229G>C (p.Arg1410Thr) c.4220G>C (p.Arg1407Thr) n.6266+13645G>C | gnomAD v4 |
2 | g.15218777C>T | CA345883711 | NBAS | c.4414G>A c.4426+13645G>A c.939G>A c.2284G>A c.6428G>A (p.Arg2143Lys) c.512+13645G>A (n.512+13645G>A) c.3571G>A n.6280+13645G>A c.6299G>A (p.Arg2100Lys) c.5789G>A (p.Arg1930Lys) c.4229G>A (p.Arg1410Lys) c.4220G>A (p.Arg1407Lys) n.6266+13645G>A | |
2 | g.15218778T>A | CA345883714 | NBAS | c.4413A>T c.4426+13644A>T c.938A>T c.2283A>T c.6427A>T (p.Arg2143Ter) c.512+13644A>T (n.512+13644A>T) c.3570A>T n.6280+13644A>T c.6298A>T (p.Arg2100Ter) c.5788A>T (p.Arg1930Ter) c.4228A>T (p.Arg1410Ter) c.4219A>T (p.Arg1407Ter) n.6266+13644A>T | |
2 | g.15218778T>C | CA345883716 | NBAS | c.4413A>G c.4426+13644A>G c.938A>G c.2283A>G c.6427A>G (p.Arg2143Gly) c.512+13644A>G (n.512+13644A>G) c.3570A>G n.6280+13644A>G c.6298A>G (p.Arg2100Gly) c.5788A>G (p.Arg1930Gly) c.4228A>G (p.Arg1410Gly) c.4219A>G (p.Arg1407Gly) n.6266+13644A>G | |
2 | g.15218778T>G | CA424866897 | NBAS | c.4413A>C c.4426+13644A>C c.938A>C c.2283A>C c.6427A>C (p.Arg2143=) c.512+13644A>C (n.512+13644A>C) c.3570A>C n.6280+13644A>C c.6298A>C (p.Arg2100=) c.5788A>C (p.Arg1930=) c.4228A>C (p.Arg1410=) c.4219A>C (p.Arg1407=) n.6266+13644A>C | dbSNP |
2 | g.15218778T= | CA2490796176 | NBAS | c.4413A= c.4426+13644A= c.938A= c.2283A= c.6427A= (p.Arg2143=) c.512+13644A= (n.512+13644A=) c.3570A= n.6280+13644A= c.6298A= (p.Arg2100=) c.5788A= (p.Arg1930=) c.4228A= (p.Arg1410=) c.4219A= (p.Arg1407=) n.6266+13644A= | |
2 | g.15218779C>A | CA345883719 | NBAS | c.4412G>T c.4426+13643G>T c.937G>T c.2282G>T c.6426G>T (p.Gln2142His) c.512+13643G>T (n.512+13643G>T) c.3569G>T n.6280+13643G>T c.6297G>T (p.Gln2099His) c.5787G>T (p.Gln1929His) c.4227G>T (p.Gln1409His) c.4218G>T (p.Gln1406His) n.6266+13643G>T | |
2 | g.15218779C>G | CA345883720 | NBAS | c.4412G>C c.4426+13643G>C c.937G>C c.2282G>C c.6426G>C (p.Gln2142His) c.512+13643G>C (n.512+13643G>C) c.3569G>C n.6280+13643G>C c.6297G>C (p.Gln2099His) c.5787G>C (p.Gln1929His) c.4227G>C (p.Gln1409His) c.4218G>C (p.Gln1406His) n.6266+13643G>C | |
2 | g.15218779C>T | CA424866898 | NBAS | c.4412G>A c.4426+13643G>A c.937G>A c.2282G>A c.6426G>A (p.Gln2142=) c.512+13643G>A (n.512+13643G>A) c.3569G>A n.6280+13643G>A c.6297G>A (p.Gln2099=) c.5787G>A (p.Gln1929=) c.4227G>A (p.Gln1409=) c.4218G>A (p.Gln1406=) n.6266+13643G>A | |
2 | g.15218780T>A | CA345883722 | NBAS | c.4411A>T c.4426+13642A>T c.936A>T c.2281A>T c.6425A>T (p.Gln2142Leu) c.512+13642A>T (n.512+13642A>T) c.3568A>T n.6280+13642A>T c.6296A>T (p.Gln2099Leu) c.5786A>T (p.Gln1929Leu) c.4226A>T (p.Gln1409Leu) c.4217A>T (p.Gln1406Leu) n.6266+13642A>T | |
2 | g.15218780T>C | CA345883726 | NBAS | c.4411A>G c.4426+13642A>G c.936A>G c.2281A>G c.6425A>G (p.Gln2142Arg) c.512+13642A>G (n.512+13642A>G) c.3568A>G n.6280+13642A>G c.6296A>G (p.Gln2099Arg) c.5786A>G (p.Gln1929Arg) c.4226A>G (p.Gln1409Arg) c.4217A>G (p.Gln1406Arg) n.6266+13642A>G | |
2 | g.15218780T>G | CA345883724 | NBAS | c.4411A>C c.4426+13642A>C c.936A>C c.2281A>C c.6425A>C (p.Gln2142Pro) c.512+13642A>C (n.512+13642A>C) c.3568A>C n.6280+13642A>C c.6296A>C (p.Gln2099Pro) c.5786A>C (p.Gln1929Pro) c.4226A>C (p.Gln1409Pro) c.4217A>C (p.Gln1406Pro) n.6266+13642A>C | |
2 | g.15218781G>A | CA345883728 | NBAS | c.4410C>T c.4426+13641C>T c.935C>T c.2280C>T c.6424C>T (p.Gln2142Ter) c.512+13641C>T (n.512+13641C>T) c.3567C>T n.6280+13641C>T c.6295C>T (p.Gln2099Ter) c.5785C>T (p.Gln1929Ter) c.4225C>T (p.Gln1409Ter) c.4216C>T (p.Gln1406Ter) n.6266+13641C>T | |
2 | g.15218781G>C | CA345883732 | NBAS | c.4410C>G c.4426+13641C>G c.935C>G c.2280C>G c.6424C>G (p.Gln2142Glu) c.512+13641C>G (n.512+13641C>G) c.3567C>G n.6280+13641C>G c.6295C>G (p.Gln2099Glu) c.5785C>G (p.Gln1929Glu) c.4225C>G (p.Gln1409Glu) c.4216C>G (p.Gln1406Glu) n.6266+13641C>G | |
2 | g.15218781G>T | CA345883730 | NBAS | c.4410C>A c.4426+13641C>A c.935C>A c.2280C>A c.6424C>A (p.Gln2142Lys) c.512+13641C>A (n.512+13641C>A) c.3567C>A n.6280+13641C>A c.6295C>A (p.Gln2099Lys) c.5785C>A (p.Gln1929Lys) c.4225C>A (p.Gln1409Lys) c.4216C>A (p.Gln1406Lys) n.6266+13641C>A | |
2 | g.15218782G>A | CA424866899 | NBAS | c.4409C>T c.4426+13640C>T c.934C>T c.2279C>T c.6423C>T (p.Pro2141=) c.512+13640C>T (n.512+13640C>T) c.3566C>T n.6280+13640C>T c.6294C>T (p.Pro2098=) c.5784C>T (p.Pro1928=) c.4224C>T (p.Pro1408=) c.4215C>T (p.Pro1405=) n.6266+13640C>T | gnomAD v4 COSMIC |
2 | g.15218782G>C | CA424866900 | NBAS | c.4409C>G c.4426+13640C>G c.934C>G c.2279C>G c.6423C>G (p.Pro2141=) c.512+13640C>G (n.512+13640C>G) c.3566C>G n.6280+13640C>G c.6294C>G (p.Pro2098=) c.5784C>G (p.Pro1928=) c.4224C>G (p.Pro1408=) c.4215C>G (p.Pro1405=) n.6266+13640C>G | gnomAD v4 |
2 | g.15218782G>T | CA424866901 | NBAS | c.4409C>A c.4426+13640C>A c.934C>A c.2279C>A c.6423C>A (p.Pro2141=) c.512+13640C>A (n.512+13640C>A) c.3566C>A n.6280+13640C>A c.6294C>A (p.Pro2098=) c.5784C>A (p.Pro1928=) c.4224C>A (p.Pro1408=) c.4215C>A (p.Pro1405=) n.6266+13640C>A | |
2 | g.15218783G>A | CA345883734 | NBAS | c.4408C>T c.4426+13639C>T c.933C>T c.2278C>T c.6422C>T (p.Pro2141Leu) c.512+13639C>T (n.512+13639C>T) c.3565C>T n.6280+13639C>T c.6293C>T (p.Pro2098Leu) c.5783C>T (p.Pro1928Leu) c.4223C>T (p.Pro1408Leu) c.4214C>T (p.Pro1405Leu) n.6266+13639C>T | |
2 | g.15218783G>C | CA345883737 | NBAS | c.4408C>G c.4426+13639C>G c.933C>G c.2278C>G c.6422C>G (p.Pro2141Arg) c.512+13639C>G (n.512+13639C>G) c.3565C>G n.6280+13639C>G c.6293C>G (p.Pro2098Arg) c.5783C>G (p.Pro1928Arg) c.4223C>G (p.Pro1408Arg) c.4214C>G (p.Pro1405Arg) n.6266+13639C>G | gnomAD v4 |
2 | g.15218783G= | CA2490796177 | NBAS | c.4408C= c.4426+13639C= c.933C= c.2278C= c.6422C= (p.Pro2141=) c.512+13639C= (n.512+13639C=) c.3565C= n.6280+13639C= c.6293C= (p.Pro2098=) c.5783C= (p.Pro1928=) c.4223C= (p.Pro1408=) c.4214C= (p.Pro1405=) n.6266+13639C= | |
2 | g.15218783G>T | CA1535017 | NBAS | c.4408C>A c.4426+13639C>A c.933C>A c.2278C>A c.6422C>A (p.Pro2141His) c.512+13639C>A (n.512+13639C>A) c.3565C>A n.6280+13639C>A c.6293C>A (p.Pro2098His) c.5783C>A (p.Pro1928His) c.4223C>A (p.Pro1408His) c.4214C>A (p.Pro1405His) n.6266+13639C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218784G>A | CA345883739 | NBAS | c.4407C>T c.4426+13638C>T c.932C>T c.2277C>T c.6421C>T (p.Pro2141Ser) c.512+13638C>T (n.512+13638C>T) c.3564C>T n.6280+13638C>T c.6292C>T (p.Pro2098Ser) c.5782C>T (p.Pro1928Ser) c.4222C>T (p.Pro1408Ser) c.4213C>T (p.Pro1405Ser) n.6266+13638C>T | gnomAD v4 |
2 | g.15218784G>C | CA345883743 | NBAS | c.4407C>G c.4426+13638C>G c.932C>G c.2277C>G c.6421C>G (p.Pro2141Ala) c.512+13638C>G (n.512+13638C>G) c.3564C>G n.6280+13638C>G c.6292C>G (p.Pro2098Ala) c.5782C>G (p.Pro1928Ala) c.4222C>G (p.Pro1408Ala) c.4213C>G (p.Pro1405Ala) n.6266+13638C>G | |
2 | g.15218784G>T | CA345883741 | NBAS | c.4407C>A c.4426+13638C>A c.932C>A c.2277C>A c.6421C>A (p.Pro2141Thr) c.512+13638C>A (n.512+13638C>A) c.3564C>A n.6280+13638C>A c.6292C>A (p.Pro2098Thr) c.5782C>A (p.Pro1928Thr) c.4222C>A (p.Pro1408Thr) c.4213C>A (p.Pro1405Thr) n.6266+13638C>A | |
2 | g.15218785C>A | CA345883745 | NBAS | c.4406G>T c.4426+13637G>T c.931G>T c.2276G>T c.6420G>T (p.Trp2140Cys) c.512+13637G>T (n.512+13637G>T) c.3563G>T n.6280+13637G>T c.6291G>T (p.Trp2097Cys) c.5781G>T (p.Trp1927Cys) c.4221G>T (p.Trp1407Cys) c.4212G>T (p.Trp1404Cys) n.6266+13637G>T | |
2 | g.15218785C>G | CA345883747 | NBAS | c.4406G>C c.4426+13637G>C c.931G>C c.2276G>C c.6420G>C (p.Trp2140Cys) c.512+13637G>C (n.512+13637G>C) c.3563G>C n.6280+13637G>C c.6291G>C (p.Trp2097Cys) c.5781G>C (p.Trp1927Cys) c.4221G>C (p.Trp1407Cys) c.4212G>C (p.Trp1404Cys) n.6266+13637G>C | |
2 | g.15218785C>T | CA345883748 | NBAS | c.4406G>A c.4426+13637G>A c.931G>A c.2276G>A c.6420G>A (p.Trp2140Ter) c.512+13637G>A (n.512+13637G>A) c.3563G>A n.6280+13637G>A c.6291G>A (p.Trp2097Ter) c.5781G>A (p.Trp1927Ter) c.4221G>A (p.Trp1407Ter) c.4212G>A (p.Trp1404Ter) n.6266+13637G>A | |
2 | g.15218786C>A | CA345883750 | NBAS | c.4405G>T c.4426+13636G>T c.930G>T c.2275G>T c.6419G>T (p.Trp2140Leu) c.512+13636G>T (n.512+13636G>T) c.3562G>T n.6280+13636G>T c.6290G>T (p.Trp2097Leu) c.5780G>T (p.Trp1927Leu) c.4220G>T (p.Trp1407Leu) c.4211G>T (p.Trp1404Leu) n.6266+13636G>T | |
2 | g.15218786C>G | CA345883753 | NBAS | c.4405G>C c.4426+13636G>C c.930G>C c.2275G>C c.6419G>C (p.Trp2140Ser) c.512+13636G>C (n.512+13636G>C) c.3562G>C n.6280+13636G>C c.6290G>C (p.Trp2097Ser) c.5780G>C (p.Trp1927Ser) c.4220G>C (p.Trp1407Ser) c.4211G>C (p.Trp1404Ser) n.6266+13636G>C | |
2 | g.15218786C>T | CA345883755 | NBAS | c.4405G>A c.4426+13636G>A c.930G>A c.2275G>A c.6419G>A (p.Trp2140Ter) c.512+13636G>A (n.512+13636G>A) c.3562G>A n.6280+13636G>A c.6290G>A (p.Trp2097Ter) c.5780G>A (p.Trp1927Ter) c.4220G>A (p.Trp1407Ter) c.4211G>A (p.Trp1404Ter) n.6266+13636G>A | |
2 | g.15218787A= | CA2490796178 | NBAS | c.4404T= c.4426+13635T= c.929T= c.2274T= c.6418T= (p.Trp2140=) c.512+13635T= (n.512+13635T=) c.3561T= n.6280+13635T= c.6289T= (p.Trp2097=) c.5779T= (p.Trp1927=) c.4219T= (p.Trp1407=) c.4210T= (p.Trp1404=) n.6266+13635T= | |
2 | g.15218787A>C | CA345883757 | NBAS | c.4404T>G c.4426+13635T>G c.929T>G c.2274T>G c.6418T>G (p.Trp2140Gly) c.512+13635T>G (n.512+13635T>G) c.3561T>G n.6280+13635T>G c.6289T>G (p.Trp2097Gly) c.5779T>G (p.Trp1927Gly) c.4219T>G (p.Trp1407Gly) c.4210T>G (p.Trp1404Gly) n.6266+13635T>G | |
2 | g.15218787A>G | CA1535018 | NBAS | c.4404T>C c.4426+13635T>C c.929T>C c.2274T>C c.6418T>C (p.Trp2140Arg) c.512+13635T>C (n.512+13635T>C) c.3561T>C n.6280+13635T>C c.6289T>C (p.Trp2097Arg) c.5779T>C (p.Trp1927Arg) c.4219T>C (p.Trp1407Arg) c.4210T>C (p.Trp1404Arg) n.6266+13635T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218787A>T | CA345883760 | NBAS | c.4404T>A c.4426+13635T>A c.929T>A c.2274T>A c.6418T>A (p.Trp2140Arg) c.512+13635T>A (n.512+13635T>A) c.3561T>A n.6280+13635T>A c.6289T>A (p.Trp2097Arg) c.5779T>A (p.Trp1927Arg) c.4219T>A (p.Trp1407Arg) c.4210T>A (p.Trp1404Arg) n.6266+13635T>A | gnomAD v4 |
2 | g.15218788G>A | CA424866902 | NBAS | c.4403C>T c.4426+13634C>T c.928C>T c.2273C>T c.6417C>T (p.Ser2139=) c.512+13634C>T (n.512+13634C>T) c.3560C>T n.6280+13634C>T c.6288C>T (p.Ser2096=) c.5778C>T (p.Ser1926=) c.4218C>T (p.Ser1406=) c.4209C>T (p.Ser1403=) n.6266+13634C>T | gnomAD v4 |
2 | g.15218788G>C | CA424866904 | NBAS | c.4403C>G c.4426+13634C>G c.928C>G c.2273C>G c.6417C>G (p.Ser2139=) c.512+13634C>G (n.512+13634C>G) c.3560C>G n.6280+13634C>G c.6288C>G (p.Ser2096=) c.5778C>G (p.Ser1926=) c.4218C>G (p.Ser1406=) c.4209C>G (p.Ser1403=) n.6266+13634C>G | |
2 | g.15218788G>T | CA424866903 | NBAS | c.4403C>A c.4426+13634C>A c.928C>A c.2273C>A c.6417C>A (p.Ser2139=) c.512+13634C>A (n.512+13634C>A) c.3560C>A n.6280+13634C>A c.6288C>A (p.Ser2096=) c.5778C>A (p.Ser1926=) c.4218C>A (p.Ser1406=) c.4209C>A (p.Ser1403=) n.6266+13634C>A | |
2 | g.15218789G>A | CA1535019 | NBAS | c.4402C>T c.4426+13633C>T c.927C>T c.2272C>T c.6416C>T (p.Ser2139Phe) c.512+13633C>T (n.512+13633C>T) c.3559C>T n.6280+13633C>T c.6287C>T (p.Ser2096Phe) c.5777C>T (p.Ser1926Phe) c.4217C>T (p.Ser1406Phe) c.4208C>T (p.Ser1403Phe) n.6266+13633C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218789G>C | CA345883764 | NBAS | c.4402C>G c.4426+13633C>G c.927C>G c.2272C>G c.6416C>G (p.Ser2139Cys) c.512+13633C>G (n.512+13633C>G) c.3559C>G n.6280+13633C>G c.6287C>G (p.Ser2096Cys) c.5777C>G (p.Ser1926Cys) c.4217C>G (p.Ser1406Cys) c.4208C>G (p.Ser1403Cys) n.6266+13633C>G | |
2 | g.15218789G= | CA2490796179 | NBAS | c.4402C= c.4426+13633C= c.927C= c.2272C= c.6416C= (p.Ser2139=) c.512+13633C= (n.512+13633C=) c.3559C= n.6280+13633C= c.6287C= (p.Ser2096=) c.5777C= (p.Ser1926=) c.4217C= (p.Ser1406=) c.4208C= (p.Ser1403=) n.6266+13633C= | |
2 | g.15218789G>T | CA345883762 | NBAS | c.4402C>A c.4426+13633C>A c.927C>A c.2272C>A c.6416C>A (p.Ser2139Tyr) c.512+13633C>A (n.512+13633C>A) c.3559C>A n.6280+13633C>A c.6287C>A (p.Ser2096Tyr) c.5777C>A (p.Ser1926Tyr) c.4217C>A (p.Ser1406Tyr) c.4208C>A (p.Ser1403Tyr) n.6266+13633C>A | |
2 | g.15218790A>C | CA345883772 | NBAS | c.4401T>G c.4426+13632T>G c.926T>G c.2271T>G c.6415T>G (p.Ser2139Ala) c.512+13632T>G (n.512+13632T>G) c.3558T>G n.6280+13632T>G c.6286T>G (p.Ser2096Ala) c.5776T>G (p.Ser1926Ala) c.4216T>G (p.Ser1406Ala) c.4207T>G (p.Ser1403Ala) n.6266+13632T>G | gnomAD v4 |
2 | g.15218790A>G | CA345883774 | NBAS | c.4401T>C c.4426+13632T>C c.926T>C c.2271T>C c.6415T>C (p.Ser2139Pro) c.512+13632T>C (n.512+13632T>C) c.3558T>C n.6280+13632T>C c.6286T>C (p.Ser2096Pro) c.5776T>C (p.Ser1926Pro) c.4216T>C (p.Ser1406Pro) c.4207T>C (p.Ser1403Pro) n.6266+13632T>C | |
2 | g.15218790A>T | CA345883775 | NBAS | c.4401T>A c.4426+13632T>A c.926T>A c.2271T>A c.6415T>A (p.Ser2139Thr) c.512+13632T>A (n.512+13632T>A) c.3558T>A n.6280+13632T>A c.6286T>A (p.Ser2096Thr) c.5776T>A (p.Ser1926Thr) c.4216T>A (p.Ser1406Thr) c.4207T>A (p.Ser1403Thr) n.6266+13632T>A | |
2 | g.15218791G>A | CA424866905 | NBAS | c.4400C>T c.4426+13631C>T c.925C>T c.2270C>T c.6414C>T (p.Ala2138=) c.512+13631C>T (n.512+13631C>T) c.3557C>T n.6280+13631C>T c.6285C>T (p.Ala2095=) c.5775C>T (p.Ala1925=) c.4215C>T (p.Ala1405=) c.4206C>T (p.Ala1402=) n.6266+13631C>T | ClinVar dbSNP gnomAD v4 |
2 | g.15218791G>C | CA424866906 | NBAS | c.4400C>G c.4426+13631C>G c.925C>G c.2270C>G c.6414C>G (p.Ala2138=) c.512+13631C>G (n.512+13631C>G) c.3557C>G n.6280+13631C>G c.6285C>G (p.Ala2095=) c.5775C>G (p.Ala1925=) c.4215C>G (p.Ala1405=) c.4206C>G (p.Ala1402=) n.6266+13631C>G | |
2 | g.15218791G= | CA2490796180 | NBAS | c.4400C= c.4426+13631C= c.925C= c.2270C= c.6414C= (p.Ala2138=) c.512+13631C= (n.512+13631C=) c.3557C= n.6280+13631C= c.6285C= (p.Ala2095=) c.5775C= (p.Ala1925=) c.4215C= (p.Ala1405=) c.4206C= (p.Ala1402=) n.6266+13631C= | |
2 | g.15218791G>T | CA424866907 | NBAS | c.4400C>A c.4426+13631C>A c.925C>A c.2270C>A c.6414C>A (p.Ala2138=) c.512+13631C>A (n.512+13631C>A) c.3557C>A n.6280+13631C>A c.6285C>A (p.Ala2095=) c.5775C>A (p.Ala1925=) c.4215C>A (p.Ala1405=) c.4206C>A (p.Ala1402=) n.6266+13631C>A | |
2 | g.15218792G>A | CA345883776 | NBAS | c.4399C>T c.4426+13630C>T c.924C>T c.2269C>T c.6413C>T (p.Ala2138Val) c.512+13630C>T (n.512+13630C>T) c.3556C>T n.6280+13630C>T c.6284C>T (p.Ala2095Val) c.5774C>T (p.Ala1925Val) c.4214C>T (p.Ala1405Val) c.4205C>T (p.Ala1402Val) n.6266+13630C>T | |
2 | g.15218792G>C | CA345883777 | NBAS | c.4399C>G c.4426+13630C>G c.924C>G c.2269C>G c.6413C>G (p.Ala2138Gly) c.512+13630C>G (n.512+13630C>G) c.3556C>G n.6280+13630C>G c.6284C>G (p.Ala2095Gly) c.5774C>G (p.Ala1925Gly) c.4214C>G (p.Ala1405Gly) c.4205C>G (p.Ala1402Gly) n.6266+13630C>G | |
2 | g.15218792G>T | CA345883778 | NBAS | c.4399C>A c.4426+13630C>A c.924C>A c.2269C>A c.6413C>A (p.Ala2138Asp) c.512+13630C>A (n.512+13630C>A) c.3556C>A n.6280+13630C>A c.6284C>A (p.Ala2095Asp) c.5774C>A (p.Ala1925Asp) c.4214C>A (p.Ala1405Asp) c.4205C>A (p.Ala1402Asp) n.6266+13630C>A | gnomAD v4 COSMIC |
2 | g.15218793C>A | CA345883779 | NBAS | c.4398G>T c.4426+13629G>T c.923G>T c.2268G>T c.6412G>T (p.Ala2138Ser) c.512+13629G>T (n.512+13629G>T) c.3555G>T n.6280+13629G>T c.6283G>T (p.Ala2095Ser) c.5773G>T (p.Ala1925Ser) c.4213G>T (p.Ala1405Ser) c.4204G>T (p.Ala1402Ser) n.6266+13629G>T | |
2 | g.15218793C>G | CA345883780 | NBAS | c.4398G>C c.4426+13629G>C c.923G>C c.2268G>C c.6412G>C (p.Ala2138Pro) c.512+13629G>C (n.512+13629G>C) c.3555G>C n.6280+13629G>C c.6283G>C (p.Ala2095Pro) c.5773G>C (p.Ala1925Pro) c.4213G>C (p.Ala1405Pro) c.4204G>C (p.Ala1402Pro) n.6266+13629G>C | |
2 | g.15218793C>T | CA345883781 | NBAS | c.4398G>A c.4426+13629G>A c.923G>A c.2268G>A c.6412G>A (p.Ala2138Thr) c.512+13629G>A (n.512+13629G>A) c.3555G>A n.6280+13629G>A c.6283G>A (p.Ala2095Thr) c.5773G>A (p.Ala1925Thr) c.4213G>A (p.Ala1405Thr) c.4204G>A (p.Ala1402Thr) n.6266+13629G>A | |
2 | g.15218794T>A | CA345883782 | NBAS | c.4397A>T c.4426+13628A>T c.922A>T c.2267A>T c.6411A>T (p.Lys2137Asn) c.512+13628A>T (n.512+13628A>T) c.3554A>T n.6280+13628A>T c.6282A>T (p.Lys2094Asn) c.5772A>T (p.Lys1924Asn) c.4212A>T (p.Lys1404Asn) c.4203A>T (p.Lys1401Asn) n.6266+13628A>T | |
2 | g.15218794T>C | CA424866908 | NBAS | c.4397A>G c.4426+13628A>G c.922A>G c.2267A>G c.6411A>G (p.Lys2137=) c.512+13628A>G (n.512+13628A>G) c.3554A>G n.6280+13628A>G c.6282A>G (p.Lys2094=) c.5772A>G (p.Lys1924=) c.4212A>G (p.Lys1404=) c.4203A>G (p.Lys1401=) n.6266+13628A>G | |
2 | g.15218794T>G | CA345883783 | NBAS | c.4397A>C c.4426+13628A>C c.922A>C c.2267A>C c.6411A>C (p.Lys2137Asn) c.512+13628A>C (n.512+13628A>C) c.3554A>C n.6280+13628A>C c.6282A>C (p.Lys2094Asn) c.5772A>C (p.Lys1924Asn) c.4212A>C (p.Lys1404Asn) c.4203A>C (p.Lys1401Asn) n.6266+13628A>C | |
2 | g.15218795T>A | CA345883794 | NBAS | c.4396A>T c.4426+13627A>T c.921A>T c.2266A>T c.6410A>T (p.Lys2137Ile) c.512+13627A>T (n.512+13627A>T) c.3553A>T n.6280+13627A>T c.6281A>T (p.Lys2094Ile) c.5771A>T (p.Lys1924Ile) c.4211A>T (p.Lys1404Ile) c.4202A>T (p.Lys1401Ile) n.6266+13627A>T | |
2 | g.15218795T>C | CA345883796 | NBAS | c.4396A>G c.4426+13627A>G c.921A>G c.2266A>G c.6410A>G (p.Lys2137Arg) c.512+13627A>G (n.512+13627A>G) c.3553A>G n.6280+13627A>G c.6281A>G (p.Lys2094Arg) c.5771A>G (p.Lys1924Arg) c.4211A>G (p.Lys1404Arg) c.4202A>G (p.Lys1401Arg) n.6266+13627A>G | |
2 | g.15218795T>G | CA345883791 | NBAS | c.4396A>C c.4426+13627A>C c.921A>C c.2266A>C c.6410A>C (p.Lys2137Thr) c.512+13627A>C (n.512+13627A>C) c.3553A>C n.6280+13627A>C c.6281A>C (p.Lys2094Thr) c.5771A>C (p.Lys1924Thr) c.4211A>C (p.Lys1404Thr) c.4202A>C (p.Lys1401Thr) n.6266+13627A>C | |
2 | g.15218796T>A | CA345883799 | NBAS | c.4395A>T c.4426+13626A>T c.920A>T c.2265A>T c.6409A>T (p.Lys2137Ter) c.512+13626A>T (n.512+13626A>T) c.3552A>T n.6280+13626A>T c.6280A>T (p.Lys2094Ter) c.5770A>T (p.Lys1924Ter) c.4210A>T (p.Lys1404Ter) c.4201A>T (p.Lys1401Ter) n.6266+13626A>T | |
2 | g.15218796T>C | CA345883800 | NBAS | c.4395A>G c.4426+13626A>G c.920A>G c.2265A>G c.6409A>G (p.Lys2137Glu) c.512+13626A>G (n.512+13626A>G) c.3552A>G n.6280+13626A>G c.6280A>G (p.Lys2094Glu) c.5770A>G (p.Lys1924Glu) c.4210A>G (p.Lys1404Glu) c.4201A>G (p.Lys1401Glu) n.6266+13626A>G | |
2 | g.15218796T>G | CA345883801 | NBAS | c.4395A>C c.4426+13626A>C c.920A>C c.2265A>C c.6409A>C (p.Lys2137Gln) c.512+13626A>C (n.512+13626A>C) c.3552A>C n.6280+13626A>C c.6280A>C (p.Lys2094Gln) c.5770A>C (p.Lys1924Gln) c.4210A>C (p.Lys1404Gln) c.4201A>C (p.Lys1401Gln) n.6266+13626A>C | |
2 | g.15218797G>A | CA424866909 | NBAS | c.4394C>T c.4426+13625C>T c.919C>T c.2264C>T c.6408C>T (p.Leu2136=) c.512+13625C>T (n.512+13625C>T) c.3551C>T n.6280+13625C>T c.6279C>T (p.Leu2093=) c.5769C>T (p.Leu1923=) c.4209C>T (p.Leu1403=) c.4200C>T (p.Leu1400=) n.6266+13625C>T | gnomAD v4 |
2 | g.15218797G>C | CA424866910 | NBAS | c.4394C>G c.4426+13625C>G c.919C>G c.2264C>G c.6408C>G (p.Leu2136=) c.512+13625C>G (n.512+13625C>G) c.3551C>G n.6280+13625C>G c.6279C>G (p.Leu2093=) c.5769C>G (p.Leu1923=) c.4209C>G (p.Leu1403=) c.4200C>G (p.Leu1400=) n.6266+13625C>G | |
2 | g.15218797G>T | CA424866911 | NBAS | c.4394C>A c.4426+13625C>A c.919C>A c.2264C>A c.6408C>A (p.Leu2136=) c.512+13625C>A (n.512+13625C>A) c.3551C>A n.6280+13625C>A c.6279C>A (p.Leu2093=) c.5769C>A (p.Leu1923=) c.4209C>A (p.Leu1403=) c.4200C>A (p.Leu1400=) n.6266+13625C>A | |
2 | g.15218798A>C | CA345883802 | NBAS | c.4393T>G c.4426+13624T>G c.918T>G c.2263T>G c.6407T>G (p.Leu2136Arg) c.512+13624T>G (n.512+13624T>G) c.3550T>G n.6280+13624T>G c.6278T>G (p.Leu2093Arg) c.5768T>G (p.Leu1923Arg) c.4208T>G (p.Leu1403Arg) c.4199T>G (p.Leu1400Arg) n.6266+13624T>G | |
2 | g.15218798A>G | CA345883803 | NBAS | c.4393T>C c.4426+13624T>C c.918T>C c.2263T>C c.6407T>C (p.Leu2136Pro) c.512+13624T>C (n.512+13624T>C) c.3550T>C n.6280+13624T>C c.6278T>C (p.Leu2093Pro) c.5768T>C (p.Leu1923Pro) c.4208T>C (p.Leu1403Pro) c.4199T>C (p.Leu1400Pro) n.6266+13624T>C | |
2 | g.15218798A>T | CA345883804 | NBAS | c.4393T>A c.4426+13624T>A c.918T>A c.2263T>A c.6407T>A (p.Leu2136His) c.512+13624T>A (n.512+13624T>A) c.3550T>A n.6280+13624T>A c.6278T>A (p.Leu2093His) c.5768T>A (p.Leu1923His) c.4208T>A (p.Leu1403His) c.4199T>A (p.Leu1400His) n.6266+13624T>A | |
2 | g.15218799G>A | CA345883805 | NBAS | c.4392C>T c.4426+13623C>T c.917C>T c.2262C>T c.6406C>T (p.Leu2136Phe) c.512+13623C>T (n.512+13623C>T) c.3549C>T n.6280+13623C>T c.6277C>T (p.Leu2093Phe) c.5767C>T (p.Leu1923Phe) c.4207C>T (p.Leu1403Phe) c.4198C>T (p.Leu1400Phe) n.6266+13623C>T | |
2 | g.15218799G>C | CA345883807 | NBAS | c.4392C>G c.4426+13623C>G c.917C>G c.2262C>G c.6406C>G (p.Leu2136Val) c.512+13623C>G (n.512+13623C>G) c.3549C>G n.6280+13623C>G c.6277C>G (p.Leu2093Val) c.5767C>G (p.Leu1923Val) c.4207C>G (p.Leu1403Val) c.4198C>G (p.Leu1400Val) n.6266+13623C>G | gnomAD v4 |
2 | g.15218799G>T | CA345883806 | NBAS | c.4392C>A c.4426+13623C>A c.917C>A c.2262C>A c.6406C>A (p.Leu2136Ile) c.512+13623C>A (n.512+13623C>A) c.3549C>A n.6280+13623C>A c.6277C>A (p.Leu2093Ile) c.5767C>A (p.Leu1923Ile) c.4207C>A (p.Leu1403Ile) c.4198C>A (p.Leu1400Ile) n.6266+13623C>A | |
2 | g.15218800A>C | CA345883810 | NBAS | c.4391T>G c.4426+13622T>G c.916T>G c.2261T>G c.6405T>G (p.Ile2135Met) c.512+13622T>G (n.512+13622T>G) c.3548T>G n.6280+13622T>G c.6276T>G (p.Ile2092Met) c.5766T>G (p.Ile1922Met) c.4206T>G (p.Ile1402Met) c.4197T>G (p.Ile1399Met) n.6266+13622T>G | |
2 | g.15218800A>G | CA424866913 | NBAS | c.4391T>C c.4426+13622T>C c.916T>C c.2261T>C c.6405T>C (p.Ile2135=) c.512+13622T>C (n.512+13622T>C) c.3548T>C n.6280+13622T>C c.6276T>C (p.Ile2092=) c.5766T>C (p.Ile1922=) c.4206T>C (p.Ile1402=) c.4197T>C (p.Ile1399=) n.6266+13622T>C | |
2 | g.15218800A>T | CA424866912 | NBAS | c.4391T>A c.4426+13622T>A c.916T>A c.2261T>A c.6405T>A (p.Ile2135=) c.512+13622T>A (n.512+13622T>A) c.3548T>A n.6280+13622T>A c.6276T>A (p.Ile2092=) c.5766T>A (p.Ile1922=) c.4206T>A (p.Ile1402=) c.4197T>A (p.Ile1399=) n.6266+13622T>A | |
2 | g.15218801A>C | CA345883813 | NBAS | c.4390T>G c.4426+13621T>G c.915T>G c.2260T>G c.6404T>G (p.Ile2135Ser) c.512+13621T>G (n.512+13621T>G) c.3547T>G n.6280+13621T>G c.6275T>G (p.Ile2092Ser) c.5765T>G (p.Ile1922Ser) c.4205T>G (p.Ile1402Ser) c.4196T>G (p.Ile1399Ser) n.6266+13621T>G | |
2 | g.15218801A>G | CA345883817 | NBAS | c.4390T>C c.4426+13621T>C c.915T>C c.2260T>C c.6404T>C (p.Ile2135Thr) c.512+13621T>C (n.512+13621T>C) c.3547T>C n.6280+13621T>C c.6275T>C (p.Ile2092Thr) c.5765T>C (p.Ile1922Thr) c.4205T>C (p.Ile1402Thr) c.4196T>C (p.Ile1399Thr) n.6266+13621T>C | |
2 | g.15218801A>T | CA345883823 | NBAS | c.4390T>A c.4426+13621T>A c.915T>A c.2260T>A c.6404T>A (p.Ile2135Asn) c.512+13621T>A (n.512+13621T>A) c.3547T>A n.6280+13621T>A c.6275T>A (p.Ile2092Asn) c.5765T>A (p.Ile1922Asn) c.4205T>A (p.Ile1402Asn) c.4196T>A (p.Ile1399Asn) n.6266+13621T>A | |
2 | g.15218802T>A | CA345883828 | NBAS | c.4389A>T c.4426+13620A>T c.914A>T c.2259A>T c.6403A>T (p.Ile2135Phe) c.512+13620A>T (n.512+13620A>T) c.3546A>T n.6280+13620A>T c.6274A>T (p.Ile2092Phe) c.5764A>T (p.Ile1922Phe) c.4204A>T (p.Ile1402Phe) c.4195A>T (p.Ile1399Phe) n.6266+13620A>T | dbSNP gnomAD v2 |
2 | g.15218802T>C | CA345883836 | NBAS | c.4389A>G c.4426+13620A>G c.914A>G c.2259A>G c.6403A>G (p.Ile2135Val) c.512+13620A>G (n.512+13620A>G) c.3546A>G n.6280+13620A>G c.6274A>G (p.Ile2092Val) c.5764A>G (p.Ile1922Val) c.4204A>G (p.Ile1402Val) c.4195A>G (p.Ile1399Val) n.6266+13620A>G | dbSNP |
2 | g.15218802T>G | CA345883835 | NBAS | c.4389A>C c.4426+13620A>C c.914A>C c.2259A>C c.6403A>C (p.Ile2135Leu) c.512+13620A>C (n.512+13620A>C) c.3546A>C n.6280+13620A>C c.6274A>C (p.Ile2092Leu) c.5764A>C (p.Ile1922Leu) c.4204A>C (p.Ile1402Leu) c.4195A>C (p.Ile1399Leu) n.6266+13620A>C | |
2 | g.15218802T= | CA2490796181 | NBAS | c.4389A= c.4426+13620A= c.914A= c.2259A= c.6403A= (p.Ile2135=) c.512+13620A= (n.512+13620A=) c.3546A= n.6280+13620A= c.6274A= (p.Ile2092=) c.5764A= (p.Ile1922=) c.4204A= (p.Ile1402=) c.4195A= (p.Ile1399=) n.6266+13620A= | |
2 | g.15218803G>A | CA424866914 | NBAS | c.4388C>T c.4426+13619C>T c.913C>T c.2258C>T c.6402C>T (p.Ala2134=) c.512+13619C>T (n.512+13619C>T) c.3545C>T n.6280+13619C>T c.6273C>T (p.Ala2091=) c.5763C>T (p.Ala1921=) c.4203C>T (p.Ala1401=) c.4194C>T (p.Ala1398=) n.6266+13619C>T | |
2 | g.15218803G>C | CA424866915 | NBAS | c.4388C>G c.4426+13619C>G c.913C>G c.2258C>G c.6402C>G (p.Ala2134=) c.512+13619C>G (n.512+13619C>G) c.3545C>G n.6280+13619C>G c.6273C>G (p.Ala2091=) c.5763C>G (p.Ala1921=) c.4203C>G (p.Ala1401=) c.4194C>G (p.Ala1398=) n.6266+13619C>G | |
2 | g.15218803G>T | CA424866916 | NBAS | c.4388C>A c.4426+13619C>A c.913C>A c.2258C>A c.6402C>A (p.Ala2134=) c.512+13619C>A (n.512+13619C>A) c.3545C>A n.6280+13619C>A c.6273C>A (p.Ala2091=) c.5763C>A (p.Ala1921=) c.4203C>A (p.Ala1401=) c.4194C>A (p.Ala1398=) n.6266+13619C>A | |
2 | g.15218804G>A | CA345883838 | NBAS | c.4387C>T c.4426+13618C>T c.912C>T c.2257C>T c.6401C>T (p.Ala2134Val) c.512+13618C>T (n.512+13618C>T) c.3544C>T n.6280+13618C>T c.6272C>T (p.Ala2091Val) c.5762C>T (p.Ala1921Val) c.4202C>T (p.Ala1401Val) c.4193C>T (p.Ala1398Val) n.6266+13618C>T | COSMIC |
2 | g.15218804G>C | CA345883839 | NBAS | c.4387C>G c.4426+13618C>G c.912C>G c.2257C>G c.6401C>G (p.Ala2134Gly) c.512+13618C>G (n.512+13618C>G) c.3544C>G n.6280+13618C>G c.6272C>G (p.Ala2091Gly) c.5762C>G (p.Ala1921Gly) c.4202C>G (p.Ala1401Gly) c.4193C>G (p.Ala1398Gly) n.6266+13618C>G | |
2 | g.15218804G>T | CA345883840 | NBAS | c.4387C>A c.4426+13618C>A c.912C>A c.2257C>A c.6401C>A (p.Ala2134Asp) c.512+13618C>A (n.512+13618C>A) c.3544C>A n.6280+13618C>A c.6272C>A (p.Ala2091Asp) c.5762C>A (p.Ala1921Asp) c.4202C>A (p.Ala1401Asp) c.4193C>A (p.Ala1398Asp) n.6266+13618C>A | |
2 | g.15218805C>A | CA345883841 | NBAS | c.4386G>T c.4426+13617G>T c.911G>T c.2256G>T c.6400G>T (p.Ala2134Ser) c.512+13617G>T (n.512+13617G>T) c.3543G>T n.6280+13617G>T c.6271G>T (p.Ala2091Ser) c.5761G>T (p.Ala1921Ser) c.4201G>T (p.Ala1401Ser) c.4192G>T (p.Ala1398Ser) n.6266+13617G>T | |
2 | g.15218805C= | CA2490796182 | NBAS | c.4386G= c.4426+13617G= c.911G= c.2256G= c.6400G= (p.Ala2134=) c.512+13617G= (n.512+13617G=) c.3543G= n.6280+13617G= c.6271G= (p.Ala2091=) c.5761G= (p.Ala1921=) c.4201G= (p.Ala1401=) c.4192G= (p.Ala1398=) n.6266+13617G= | |
2 | g.15218805C>G | CA345883842 | NBAS | c.4386G>C c.4426+13617G>C c.911G>C c.2256G>C c.6400G>C (p.Ala2134Pro) c.512+13617G>C (n.512+13617G>C) c.3543G>C n.6280+13617G>C c.6271G>C (p.Ala2091Pro) c.5761G>C (p.Ala1921Pro) c.4201G>C (p.Ala1401Pro) c.4192G>C (p.Ala1398Pro) n.6266+13617G>C | |
2 | g.15218805C>T | CA345883843 | NBAS | c.4386G>A c.4426+13617G>A c.911G>A c.2256G>A c.6400G>A (p.Ala2134Thr) c.512+13617G>A (n.512+13617G>A) c.3543G>A n.6280+13617G>A c.6271G>A (p.Ala2091Thr) c.5761G>A (p.Ala1921Thr) c.4201G>A (p.Ala1401Thr) c.4192G>A (p.Ala1398Thr) n.6266+13617G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218806T>A | CA345883844 | NBAS | c.4385A>T c.4426+13616A>T c.910A>T c.2255A>T c.6399A>T (p.Glu2133Asp) c.512+13616A>T (n.512+13616A>T) c.3542A>T n.6280+13616A>T c.6270A>T (p.Glu2090Asp) c.5760A>T (p.Glu1920Asp) c.4200A>T (p.Glu1400Asp) c.4191A>T (p.Glu1397Asp) n.6266+13616A>T | |
2 | g.15218806T>C | CA424866917 | NBAS | c.4385A>G c.4426+13616A>G c.910A>G c.2255A>G c.6399A>G (p.Glu2133=) c.512+13616A>G (n.512+13616A>G) c.3542A>G n.6280+13616A>G c.6270A>G (p.Glu2090=) c.5760A>G (p.Glu1920=) c.4200A>G (p.Glu1400=) c.4191A>G (p.Glu1397=) n.6266+13616A>G | |
2 | g.15218806T>G | CA345883845 | NBAS | c.4385A>C c.4426+13616A>C c.910A>C c.2255A>C c.6399A>C (p.Glu2133Asp) c.512+13616A>C (n.512+13616A>C) c.3542A>C n.6280+13616A>C c.6270A>C (p.Glu2090Asp) c.5760A>C (p.Glu1920Asp) c.4200A>C (p.Glu1400Asp) c.4191A>C (p.Glu1397Asp) n.6266+13616A>C | |
2 | g.15218807T>A | CA345883848 | NBAS | c.4384A>T c.4426+13615A>T c.909A>T c.2254A>T c.6398A>T (p.Glu2133Val) c.512+13615A>T (n.512+13615A>T) c.3541A>T n.6280+13615A>T c.6269A>T (p.Glu2090Val) c.5759A>T (p.Glu1920Val) c.4199A>T (p.Glu1400Val) c.4190A>T (p.Glu1397Val) n.6266+13615A>T | |
2 | g.15218807T>C | CA345883859 | NBAS | c.4384A>G c.4426+13615A>G c.909A>G c.2254A>G c.6398A>G (p.Glu2133Gly) c.512+13615A>G (n.512+13615A>G) c.3541A>G n.6280+13615A>G c.6269A>G (p.Glu2090Gly) c.5759A>G (p.Glu1920Gly) c.4199A>G (p.Glu1400Gly) c.4190A>G (p.Glu1397Gly) n.6266+13615A>G | |
2 | g.15218807T>G | CA42584312 | NBAS | c.4384A>C c.4426+13615A>C c.909A>C c.2254A>C c.6398A>C (p.Glu2133Ala) c.512+13615A>C (n.512+13615A>C) c.3541A>C n.6280+13615A>C c.6269A>C (p.Glu2090Ala) c.5759A>C (p.Glu1920Ala) c.4199A>C (p.Glu1400Ala) c.4190A>C (p.Glu1397Ala) n.6266+13615A>C | dbSNP |
2 | g.15218807T= | CA2490796183 | NBAS | c.4384A= c.4426+13615A= c.909A= c.2254A= c.6398A= (p.Glu2133=) c.512+13615A= (n.512+13615A=) c.3541A= n.6280+13615A= c.6269A= (p.Glu2090=) c.5759A= (p.Glu1920=) c.4199A= (p.Glu1400=) c.4190A= (p.Glu1397=) n.6266+13615A= | |
2 | g.15218808C>A | CA345883862 | NBAS | c.4383G>T c.4426+13614G>T c.908G>T c.2253G>T c.6397G>T (p.Glu2133Ter) c.512+13614G>T (n.512+13614G>T) c.3540G>T n.6280+13614G>T c.6268G>T (p.Glu2090Ter) c.5758G>T (p.Glu1920Ter) c.4198G>T (p.Glu1400Ter) c.4189G>T (p.Glu1397Ter) n.6266+13614G>T | |
2 | g.15218808C= | CA2490796184 | NBAS | c.4383G= c.4426+13614G= c.908G= c.2253G= c.6397G= (p.Glu2133=) c.512+13614G= (n.512+13614G=) c.3540G= n.6280+13614G= c.6268G= (p.Glu2090=) c.5758G= (p.Glu1920=) c.4198G= (p.Glu1400=) c.4189G= (p.Glu1397=) n.6266+13614G= | |
2 | g.15218808C>G | CA345883864 | NBAS | c.4383G>C c.4426+13614G>C c.908G>C c.2253G>C c.6397G>C (p.Glu2133Gln) c.512+13614G>C (n.512+13614G>C) c.3540G>C n.6280+13614G>C c.6268G>C (p.Glu2090Gln) c.5758G>C (p.Glu1920Gln) c.4198G>C (p.Glu1400Gln) c.4189G>C (p.Glu1397Gln) n.6266+13614G>C | |
2 | g.15218808C>T | CA42584315 | NBAS | c.4383G>A c.4426+13614G>A c.908G>A c.2253G>A c.6397G>A (p.Glu2133Lys) c.512+13614G>A (n.512+13614G>A) c.3540G>A n.6280+13614G>A c.6268G>A (p.Glu2090Lys) c.5758G>A (p.Glu1920Lys) c.4198G>A (p.Glu1400Lys) c.4189G>A (p.Glu1397Lys) n.6266+13614G>A | dbSNP |
2 | g.15218809A>C | CA424866920 | NBAS | c.4382T>G c.4426+13613T>G c.907T>G c.2252T>G c.6396T>G (p.Thr2132=) c.512+13613T>G (n.512+13613T>G) c.3539T>G n.6280+13613T>G c.6267T>G (p.Thr2089=) c.5757T>G (p.Thr1919=) c.4197T>G (p.Thr1399=) c.4188T>G (p.Thr1396=) n.6266+13613T>G | COSMIC |
2 | g.15218809A>G | CA424866919 | NBAS | c.4382T>C c.4426+13613T>C c.907T>C c.2252T>C c.6396T>C (p.Thr2132=) c.512+13613T>C (n.512+13613T>C) c.3539T>C n.6280+13613T>C c.6267T>C (p.Thr2089=) c.5757T>C (p.Thr1919=) c.4197T>C (p.Thr1399=) c.4188T>C (p.Thr1396=) n.6266+13613T>C | gnomAD v4 |
2 | g.15218809A>T | CA424866918 | NBAS | c.4382T>A c.4426+13613T>A c.907T>A c.2252T>A c.6396T>A (p.Thr2132=) c.512+13613T>A (n.512+13613T>A) c.3539T>A n.6280+13613T>A c.6267T>A (p.Thr2089=) c.5757T>A (p.Thr1919=) c.4197T>A (p.Thr1399=) c.4188T>A (p.Thr1396=) n.6266+13613T>A | |
2 | g.15218810G>A | CA345883881 | NBAS | c.4381C>T c.4426+13612C>T c.906C>T c.2251C>T c.6395C>T (p.Thr2132Ile) c.512+13612C>T (n.512+13612C>T) c.3538C>T n.6280+13612C>T c.6266C>T (p.Thr2089Ile) c.5756C>T (p.Thr1919Ile) c.4196C>T (p.Thr1399Ile) c.4187C>T (p.Thr1396Ile) n.6266+13612C>T | |
2 | g.15218810G>C | CA345883865 | NBAS | c.4381C>G c.4426+13612C>G c.906C>G c.2251C>G c.6395C>G (p.Thr2132Ser) c.512+13612C>G (n.512+13612C>G) c.3538C>G n.6280+13612C>G c.6266C>G (p.Thr2089Ser) c.5756C>G (p.Thr1919Ser) c.4196C>G (p.Thr1399Ser) c.4187C>G (p.Thr1396Ser) n.6266+13612C>G | |
2 | g.15218810G>T | CA345883879 | NBAS | c.4381C>A c.4426+13612C>A c.906C>A c.2251C>A c.6395C>A (p.Thr2132Asn) c.512+13612C>A (n.512+13612C>A) c.3538C>A n.6280+13612C>A c.6266C>A (p.Thr2089Asn) c.5756C>A (p.Thr1919Asn) c.4196C>A (p.Thr1399Asn) c.4187C>A (p.Thr1396Asn) n.6266+13612C>A | |
2 | g.15218811T>A | CA345883882 | NBAS | c.4380A>T c.4426+13611A>T c.905A>T c.2250A>T c.6394A>T (p.Thr2132Ser) c.512+13611A>T (n.512+13611A>T) c.3537A>T n.6280+13611A>T c.6265A>T (p.Thr2089Ser) c.5755A>T (p.Thr1919Ser) c.4195A>T (p.Thr1399Ser) c.4186A>T (p.Thr1396Ser) n.6266+13611A>T | dbSNP |
2 | g.15218811T>C | CA345883883 | NBAS | c.4380A>G c.4426+13611A>G c.905A>G c.2250A>G c.6394A>G (p.Thr2132Ala) c.512+13611A>G (n.512+13611A>G) c.3537A>G n.6280+13611A>G c.6265A>G (p.Thr2089Ala) c.5755A>G (p.Thr1919Ala) c.4195A>G (p.Thr1399Ala) c.4186A>G (p.Thr1396Ala) n.6266+13611A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218811T>G | CA345883885 | NBAS | c.4380A>C c.4426+13611A>C c.905A>C c.2250A>C c.6394A>C (p.Thr2132Pro) c.512+13611A>C (n.512+13611A>C) c.3537A>C n.6280+13611A>C c.6265A>C (p.Thr2089Pro) c.5755A>C (p.Thr1919Pro) c.4195A>C (p.Thr1399Pro) c.4186A>C (p.Thr1396Pro) n.6266+13611A>C | |
2 | g.15218811T= | CA2490796185 | NBAS | c.4380A= c.4426+13611A= c.905A= c.2250A= c.6394A= (p.Thr2132=) c.512+13611A= (n.512+13611A=) c.3537A= n.6280+13611A= c.6265A= (p.Thr2089=) c.5755A= (p.Thr1919=) c.4195A= (p.Thr1399=) c.4186A= (p.Thr1396=) n.6266+13611A= | |
2 | g.15218812T>A | CA345883886 | NBAS | c.4379A>T c.4426+13610A>T c.904A>T c.2249A>T c.6393A>T (p.Arg2131Ser) c.512+13610A>T (n.512+13610A>T) c.3536A>T n.6280+13610A>T c.6264A>T (p.Arg2088Ser) c.5754A>T (p.Arg1918Ser) c.4194A>T (p.Arg1398Ser) c.4185A>T (p.Arg1395Ser) n.6266+13610A>T | |
2 | g.15218812T>C | CA424866921 | NBAS | c.4379A>G c.4426+13610A>G c.904A>G c.2249A>G c.6393A>G (p.Arg2131=) c.512+13610A>G (n.512+13610A>G) c.3536A>G n.6280+13610A>G c.6264A>G (p.Arg2088=) c.5754A>G (p.Arg1918=) c.4194A>G (p.Arg1398=) c.4185A>G (p.Arg1395=) n.6266+13610A>G | ClinVar |
2 | g.15218812T>G | CA345883888 | NBAS | c.4379A>C c.4426+13610A>C c.904A>C c.2249A>C c.6393A>C (p.Arg2131Ser) c.512+13610A>C (n.512+13610A>C) c.3536A>C n.6280+13610A>C c.6264A>C (p.Arg2088Ser) c.5754A>C (p.Arg1918Ser) c.4194A>C (p.Arg1398Ser) c.4185A>C (p.Arg1395Ser) n.6266+13610A>C | |
2 | g.15218813C>A | CA345883890 | NBAS | c.4378G>T c.4426+13609G>T c.903G>T c.2248G>T c.6392G>T (p.Arg2131Ile) c.512+13609G>T (n.512+13609G>T) c.3535G>T n.6280+13609G>T c.6263G>T (p.Arg2088Ile) c.5753G>T (p.Arg1918Ile) c.4193G>T (p.Arg1398Ile) c.4184G>T (p.Arg1395Ile) n.6266+13609G>T | |
2 | g.15218813C>G | CA345883897 | NBAS | c.4378G>C c.4426+13609G>C c.903G>C c.2248G>C c.6392G>C (p.Arg2131Thr) c.512+13609G>C (n.512+13609G>C) c.3535G>C n.6280+13609G>C c.6263G>C (p.Arg2088Thr) c.5753G>C (p.Arg1918Thr) c.4193G>C (p.Arg1398Thr) c.4184G>C (p.Arg1395Thr) n.6266+13609G>C | |
2 | g.15218813C>T | CA345883892 | NBAS | c.4378G>A c.4426+13609G>A c.903G>A c.2248G>A c.6392G>A (p.Arg2131Lys) c.512+13609G>A (n.512+13609G>A) c.3535G>A n.6280+13609G>A c.6263G>A (p.Arg2088Lys) c.5753G>A (p.Arg1918Lys) c.4193G>A (p.Arg1398Lys) c.4184G>A (p.Arg1395Lys) n.6266+13609G>A | |
2 | g.15218814T>A | CA345883900 | NBAS | c.4377A>T c.4426+13608A>T c.902A>T c.2247A>T c.6391A>T (p.Arg2131Ter) c.512+13608A>T (n.512+13608A>T) c.3534A>T n.6280+13608A>T c.6262A>T (p.Arg2088Ter) c.5752A>T (p.Arg1918Ter) c.4192A>T (p.Arg1398Ter) c.4183A>T (p.Arg1395Ter) n.6266+13608A>T | |
2 | g.15218814T>C | CA345883901 | NBAS | c.4377A>G c.4426+13608A>G c.902A>G c.2247A>G c.6391A>G (p.Arg2131Gly) c.512+13608A>G (n.512+13608A>G) c.3534A>G n.6280+13608A>G c.6262A>G (p.Arg2088Gly) c.5752A>G (p.Arg1918Gly) c.4192A>G (p.Arg1398Gly) c.4183A>G (p.Arg1395Gly) n.6266+13608A>G | dbSNP |
2 | g.15218814T>G | CA424866922 | NBAS | c.4377A>C c.4426+13608A>C c.902A>C c.2247A>C c.6391A>C (p.Arg2131=) c.512+13608A>C (n.512+13608A>C) c.3534A>C n.6280+13608A>C c.6262A>C (p.Arg2088=) c.5752A>C (p.Arg1918=) c.4192A>C (p.Arg1398=) c.4183A>C (p.Arg1395=) n.6266+13608A>C | dbSNP gnomAD v2 |
2 | g.15218814T= | CA2490796186 | NBAS | c.4377A= c.4426+13608A= c.902A= c.2247A= c.6391A= (p.Arg2131=) c.512+13608A= (n.512+13608A=) c.3534A= n.6280+13608A= c.6262A= (p.Arg2088=) c.5752A= (p.Arg1918=) c.4192A= (p.Arg1398=) c.4183A= (p.Arg1395=) n.6266+13608A= | |
2 | g.15218815A= | CA2490796187 | NBAS | c.4376T= c.4426+13607T= c.901T= c.2246T= c.6390T= (p.Phe2130=) c.512+13607T= (n.512+13607T=) c.3533T= n.6280+13607T= c.6261T= (p.Phe2087=) c.5751T= (p.Phe1917=) c.4191T= (p.Phe1397=) c.4182T= (p.Phe1394=) n.6266+13607T= | |
2 | g.15218815A>C | CA1535020 | NBAS | c.4376T>G c.4426+13607T>G c.901T>G c.2246T>G c.6390T>G (p.Phe2130Leu) c.512+13607T>G (n.512+13607T>G) c.3533T>G n.6280+13607T>G c.6261T>G (p.Phe2087Leu) c.5751T>G (p.Phe1917Leu) c.4191T>G (p.Phe1397Leu) c.4182T>G (p.Phe1394Leu) n.6266+13607T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218815A>G | CA424866923 | NBAS | c.4376T>C c.4426+13607T>C c.901T>C c.2246T>C c.6390T>C (p.Phe2130=) c.512+13607T>C (n.512+13607T>C) c.3533T>C n.6280+13607T>C c.6261T>C (p.Phe2087=) c.5751T>C (p.Phe1917=) c.4191T>C (p.Phe1397=) c.4182T>C (p.Phe1394=) n.6266+13607T>C | |
2 | g.15218815A>T | CA345883903 | NBAS | c.4376T>A c.4426+13607T>A c.901T>A c.2246T>A c.6390T>A (p.Phe2130Leu) c.512+13607T>A (n.512+13607T>A) c.3533T>A n.6280+13607T>A c.6261T>A (p.Phe2087Leu) c.5751T>A (p.Phe1917Leu) c.4191T>A (p.Phe1397Leu) c.4182T>A (p.Phe1394Leu) n.6266+13607T>A | gnomAD v4 |
2 | g.15218815_15218821delinsAAAGAAC | CA2490796188 | NBAS | c.4370_4376delinsGTTCTTT c.4426+13601_4426+13607delinsGTTCTTT c.895_901delinsGTTCTTT c.2240_2246delinsGTTCTTT c.6384_6390delinsGTTCTTT (p.Val2128=) c.512+13601_512+13607delinsGTTCTTT (n.512+13601_512+13607delinsGTTCTTT) c.3527_3533delinsGTTCTTT n.6280+13601_6280+13607delinsGTTCTTT c.6255_6261delinsGTTCTTT (p.Val2085=) c.5745_5751delinsGTTCTTT (p.Val1915=) c.4185_4191delinsGTTCTTT (p.Val1395=) c.4176_4182delinsGTTCTTT (p.Val1392=) n.6266+13601_6266+13607delinsGTTCTTT | |
2 | g.15218816A= | CA2490796190 | NBAS | c.4375T= c.4426+13606T= c.900T= c.2245T= c.6389T= (p.Phe2130=) c.512+13606T= (n.512+13606T=) c.3532T= n.6280+13606T= c.6260T= (p.Phe2087=) c.5750T= (p.Phe1917=) c.4190T= (p.Phe1397=) c.4181T= (p.Phe1394=) n.6266+13606T= | |
2 | g.15218816A>C | CA345883905 | NBAS | c.4375T>G c.4426+13606T>G c.900T>G c.2245T>G c.6389T>G (p.Phe2130Cys) c.512+13606T>G (n.512+13606T>G) c.3532T>G n.6280+13606T>G c.6260T>G (p.Phe2087Cys) c.5750T>G (p.Phe1917Cys) c.4190T>G (p.Phe1397Cys) c.4181T>G (p.Phe1394Cys) n.6266+13606T>G | dbSNP |
2 | g.15218816A>G | CA345883913 | NBAS | c.4375T>C c.4426+13606T>C c.900T>C c.2245T>C c.6389T>C (p.Phe2130Ser) c.512+13606T>C (n.512+13606T>C) c.3532T>C n.6280+13606T>C c.6260T>C (p.Phe2087Ser) c.5750T>C (p.Phe1917Ser) c.4190T>C (p.Phe1397Ser) c.4181T>C (p.Phe1394Ser) n.6266+13606T>C | |
2 | g.15218816A>T | CA345883910 | NBAS | c.4375T>A c.4426+13606T>A c.900T>A c.2245T>A c.6389T>A (p.Phe2130Tyr) c.512+13606T>A (n.512+13606T>A) c.3532T>A n.6280+13606T>A c.6260T>A (p.Phe2087Tyr) c.5750T>A (p.Phe1917Tyr) c.4190T>A (p.Phe1397Tyr) c.4181T>A (p.Phe1394Tyr) n.6266+13606T>A | |
2 | g.15218817_15218822del | CA2490796189 | NBAS | c.4370_4375del c.4426+13601_4426+13606del c.895_900del c.2240_2245del c.6384_6389del (p.Phe2129_Phe2130del) c.512+13601_512+13606del (n.512+13601_512+13606del) c.3527_3532del n.6280+13601_6280+13606del c.6255_6260del (p.Phe2086_Phe2087del) c.5745_5750del (p.Phe1916_Phe1917del) c.4185_4190del (p.Phe1396_Phe1397del) c.4176_4181del (p.Phe1393_Phe1394del) n.6266+13601_6266+13606del | dbSNP gnomAD v4 |
2 | g.15218817A>C | CA345883915 | NBAS | c.4374T>G c.4426+13605T>G c.899T>G c.2244T>G c.6388T>G (p.Phe2130Val) c.512+13605T>G (n.512+13605T>G) c.3531T>G n.6280+13605T>G c.6259T>G (p.Phe2087Val) c.5749T>G (p.Phe1917Val) c.4189T>G (p.Phe1397Val) c.4180T>G (p.Phe1394Val) n.6266+13605T>G | |
2 | g.15218817A>G | CA345883917 | NBAS | c.4374T>C c.4426+13605T>C c.899T>C c.2244T>C c.6388T>C (p.Phe2130Leu) c.512+13605T>C (n.512+13605T>C) c.3531T>C n.6280+13605T>C c.6259T>C (p.Phe2087Leu) c.5749T>C (p.Phe1917Leu) c.4189T>C (p.Phe1397Leu) c.4180T>C (p.Phe1394Leu) n.6266+13605T>C | gnomAD v4 |
2 | g.15218817A>T | CA345883918 | NBAS | c.4374T>A c.4426+13605T>A c.899T>A c.2244T>A c.6388T>A (p.Phe2130Ile) c.512+13605T>A (n.512+13605T>A) c.3531T>A n.6280+13605T>A c.6259T>A (p.Phe2087Ile) c.5749T>A (p.Phe1917Ile) c.4189T>A (p.Phe1397Ile) c.4180T>A (p.Phe1394Ile) n.6266+13605T>A | |
2 | g.15218818G>A | CA424866924 | NBAS | c.4373C>T c.4426+13604C>T c.898C>T c.2243C>T c.6387C>T (p.Phe2129=) c.512+13604C>T (n.512+13604C>T) c.3530C>T n.6280+13604C>T c.6258C>T (p.Phe2086=) c.5748C>T (p.Phe1916=) c.4188C>T (p.Phe1396=) c.4179C>T (p.Phe1393=) n.6266+13604C>T | |
2 | g.15218818G>C | CA345883920 | NBAS | c.4373C>G c.4426+13604C>G c.898C>G c.2243C>G c.6387C>G (p.Phe2129Leu) c.512+13604C>G (n.512+13604C>G) c.3530C>G n.6280+13604C>G c.6258C>G (p.Phe2086Leu) c.5748C>G (p.Phe1916Leu) c.4188C>G (p.Phe1396Leu) c.4179C>G (p.Phe1393Leu) n.6266+13604C>G | |
2 | g.15218818G>T | CA345883923 | NBAS | c.4373C>A c.4426+13604C>A c.898C>A c.2243C>A c.6387C>A (p.Phe2129Leu) c.512+13604C>A (n.512+13604C>A) c.3530C>A n.6280+13604C>A c.6258C>A (p.Phe2086Leu) c.5748C>A (p.Phe1916Leu) c.4188C>A (p.Phe1396Leu) c.4179C>A (p.Phe1393Leu) n.6266+13604C>A | |
2 | g.15218819A>C | CA345883928 | NBAS | c.4372T>G c.4426+13603T>G c.897T>G c.2242T>G c.6386T>G (p.Phe2129Cys) c.512+13603T>G (n.512+13603T>G) c.3529T>G n.6280+13603T>G c.6257T>G (p.Phe2086Cys) c.5747T>G (p.Phe1916Cys) c.4187T>G (p.Phe1396Cys) c.4178T>G (p.Phe1393Cys) n.6266+13603T>G | |
2 | g.15218819A>G | CA345883930 | NBAS | c.4372T>C c.4426+13603T>C c.897T>C c.2242T>C c.6386T>C (p.Phe2129Ser) c.512+13603T>C (n.512+13603T>C) c.3529T>C n.6280+13603T>C c.6257T>C (p.Phe2086Ser) c.5747T>C (p.Phe1916Ser) c.4187T>C (p.Phe1396Ser) c.4178T>C (p.Phe1393Ser) n.6266+13603T>C | |
2 | g.15218819A>T | CA345883936 | NBAS | c.4372T>A c.4426+13603T>A c.897T>A c.2242T>A c.6386T>A (p.Phe2129Tyr) c.512+13603T>A (n.512+13603T>A) c.3529T>A n.6280+13603T>A c.6257T>A (p.Phe2086Tyr) c.5747T>A (p.Phe1916Tyr) c.4187T>A (p.Phe1396Tyr) c.4178T>A (p.Phe1393Tyr) n.6266+13603T>A | |
2 | g.15218820A= | CA2490796191 | NBAS | c.4371T= c.4426+13602T= c.896T= c.2241T= c.6385T= (p.Phe2129=) c.512+13602T= (n.512+13602T=) c.3528T= n.6280+13602T= c.6256T= (p.Phe2086=) c.5746T= (p.Phe1916=) c.4186T= (p.Phe1396=) c.4177T= (p.Phe1393=) n.6266+13602T= | |
2 | g.15218820A>C | CA345883938 | NBAS | c.4371T>G c.4426+13602T>G c.896T>G c.2241T>G c.6385T>G (p.Phe2129Val) c.512+13602T>G (n.512+13602T>G) c.3528T>G n.6280+13602T>G c.6256T>G (p.Phe2086Val) c.5746T>G (p.Phe1916Val) c.4186T>G (p.Phe1396Val) c.4177T>G (p.Phe1393Val) n.6266+13602T>G | |
2 | g.15218820A>G | CA1535021 | NBAS | c.4371T>C c.4426+13602T>C c.896T>C c.2241T>C c.6385T>C (p.Phe2129Leu) c.512+13602T>C (n.512+13602T>C) c.3528T>C n.6280+13602T>C c.6256T>C (p.Phe2086Leu) c.5746T>C (p.Phe1916Leu) c.4186T>C (p.Phe1396Leu) c.4177T>C (p.Phe1393Leu) n.6266+13602T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218820A>T | CA345883946 | NBAS | c.4371T>A c.4426+13602T>A c.896T>A c.2241T>A c.6385T>A (p.Phe2129Ile) c.512+13602T>A (n.512+13602T>A) c.3528T>A n.6280+13602T>A c.6256T>A (p.Phe2086Ile) c.5746T>A (p.Phe1916Ile) c.4186T>A (p.Phe1396Ile) c.4177T>A (p.Phe1393Ile) n.6266+13602T>A | |
2 | g.15218821C>A | CA424866925 | NBAS | c.4370G>T c.4426+13601G>T c.895G>T c.2240G>T c.6384G>T (p.Val2128=) c.512+13601G>T (n.512+13601G>T) c.3527G>T n.6280+13601G>T c.6255G>T (p.Val2085=) c.5745G>T (p.Val1915=) c.4185G>T (p.Val1395=) c.4176G>T (p.Val1392=) n.6266+13601G>T | |
2 | g.15218821C>G | CA424866926 | NBAS | c.4370G>C c.4426+13601G>C c.895G>C c.2240G>C c.6384G>C (p.Val2128=) c.512+13601G>C (n.512+13601G>C) c.3527G>C n.6280+13601G>C c.6255G>C (p.Val2085=) c.5745G>C (p.Val1915=) c.4185G>C (p.Val1395=) c.4176G>C (p.Val1392=) n.6266+13601G>C | |
2 | g.15218821C>T | CA424866927 | NBAS | c.4370G>A c.4426+13601G>A c.895G>A c.2240G>A c.6384G>A (p.Val2128=) c.512+13601G>A (n.512+13601G>A) c.3527G>A n.6280+13601G>A c.6255G>A (p.Val2085=) c.5745G>A (p.Val1915=) c.4185G>A (p.Val1395=) c.4176G>A (p.Val1392=) n.6266+13601G>A | |
2 | g.15218821_15218822insCATGCATATGCATGTTCAAGCTTATGGAAAAATAAAAATAAATTTCGTTGT | CA2748957405 | NBAS | c.4369_4370insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.4426+13600_4426+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.894_895insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.2239_2240insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.6383_6384insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val2128_Phe2129insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) c.512+13600_512+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (n.512+13600_512+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG) c.3526_3527insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG n.6280+13600_6280+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.6254_6255insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val2085_Phe2086insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) c.5744_5745insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1915_Phe1916insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) c.4184_4185insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1395_Phe1396insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) c.4175_4176insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1392_Phe1393insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) n.6266+13600_6266+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG | |
2 | g.15218822A>C | CA345883964 | NBAS | c.4369T>G c.4426+13600T>G c.894T>G c.2239T>G c.6383T>G (p.Val2128Gly) c.512+13600T>G (n.512+13600T>G) c.3526T>G n.6280+13600T>G c.6254T>G (p.Val2085Gly) c.5744T>G (p.Val1915Gly) c.4184T>G (p.Val1395Gly) c.4175T>G (p.Val1392Gly) n.6266+13600T>G | |
2 | g.15218822A>G | CA345883960 | NBAS | c.4369T>C c.4426+13600T>C c.894T>C c.2239T>C c.6383T>C (p.Val2128Ala) c.512+13600T>C (n.512+13600T>C) c.3526T>C n.6280+13600T>C c.6254T>C (p.Val2085Ala) c.5744T>C (p.Val1915Ala) c.4184T>C (p.Val1395Ala) c.4175T>C (p.Val1392Ala) n.6266+13600T>C | |
2 | g.15218822A>T | CA345883954 | NBAS | c.4369T>A c.4426+13600T>A c.894T>A c.2239T>A c.6383T>A (p.Val2128Glu) c.512+13600T>A (n.512+13600T>A) c.3526T>A n.6280+13600T>A c.6254T>A (p.Val2085Glu) c.5744T>A (p.Val1915Glu) c.4184T>A (p.Val1395Glu) c.4175T>A (p.Val1392Glu) n.6266+13600T>A | |
2 | g.15218823C>A | CA1535022 | NBAS | c.4368G>T c.4426+13599G>T c.893G>T c.2238G>T c.6382G>T (p.Val2128Leu) c.512+13599G>T (n.512+13599G>T) c.3525G>T n.6280+13599G>T c.6253G>T (p.Val2085Leu) c.5743G>T (p.Val1915Leu) c.4183G>T (p.Val1395Leu) c.4174G>T (p.Val1392Leu) n.6266+13599G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218823C= | CA2490796192 | NBAS | c.4368G= c.4426+13599G= c.893G= c.2238G= c.6382G= (p.Val2128=) c.512+13599G= (n.512+13599G=) c.3525G= n.6280+13599G= c.6253G= (p.Val2085=) c.5743G= (p.Val1915=) c.4183G= (p.Val1395=) c.4174G= (p.Val1392=) n.6266+13599G= | |
2 | g.15218823C>G | CA42584333 | NBAS | c.4368G>C c.4426+13599G>C c.893G>C c.2238G>C c.6382G>C (p.Val2128Leu) c.512+13599G>C (n.512+13599G>C) c.3525G>C n.6280+13599G>C c.6253G>C (p.Val2085Leu) c.5743G>C (p.Val1915Leu) c.4183G>C (p.Val1395Leu) c.4174G>C (p.Val1392Leu) n.6266+13599G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218823C>T | CA1535023 | NBAS | c.4368G>A c.4426+13599G>A c.893G>A c.2238G>A c.6382G>A (p.Val2128Met) c.512+13599G>A (n.512+13599G>A) c.3525G>A n.6280+13599G>A c.6253G>A (p.Val2085Met) c.5743G>A (p.Val1915Met) c.4183G>A (p.Val1395Met) c.4174G>A (p.Val1392Met) n.6266+13599G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |