Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74503388_74503469delCA2802156392LTBP2c.4720+1_4721-1del
c.4588+1_4589-1del
c.4339+1_4340-1del
c.4261+1_4262-1del
c.4237+1_4238-1del
14g.74503390_74503414delCA2625668654LTBP2c.4721-26_4721-2del (n.4721-26_4721-2del)
c.4589-26_4589-2del (n.4589-26_4589-2del)
c.4340-26_4340-2del (n.4340-26_4340-2del)
c.4262-26_4262-2del (n.4262-26_4262-2del)
c.4238-26_4238-2del (n.4238-26_4238-2del)
 gnomAD v4
14g.74503402A>GCA2625668676LTBP2c.4721-16T>C (n.4721-16T>C)
c.4589-16T>C (n.4589-16T>C)
c.4340-16T>C (n.4340-16T>C)
c.4262-16T>C (n.4262-16T>C)
c.4238-16T>C (n.4238-16T>C)
 gnomAD v4
14g.74503403C=CA2147075307LTBP2c.4721-17G= (n.4721-17G=)
c.4589-17G= (n.4589-17G=)
c.4340-17G= (n.4340-17G=)
c.4262-17G= (n.4262-17G=)
c.4238-17G= (n.4238-17G=)
14g.74503403C>TCA7268652LTBP2c.4721-17G>A (n.4721-17G>A)
c.4589-17G>A (n.4589-17G>A)
c.4340-17G>A (n.4340-17G>A)
c.4262-17G>A (n.4262-17G>A)
c.4238-17G>A (n.4238-17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503404G>ACA7268653LTBP2c.4721-18C>T (n.4721-18C>T)
c.4589-18C>T (n.4589-18C>T)
c.4340-18C>T (n.4340-18C>T)
c.4262-18C>T (n.4262-18C>T)
c.4238-18C>T (n.4238-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503404G=CA2147075308LTBP2c.4721-18C= (n.4721-18C=)
c.4589-18C= (n.4589-18C=)
c.4340-18C= (n.4340-18C=)
c.4262-18C= (n.4262-18C=)
c.4238-18C= (n.4238-18C=)
14g.74503408dupCA2625668684LTBP2c.4721-21dup (n.4721-21dup)
c.4589-21dup (n.4589-21dup)
c.4340-21dup (n.4340-21dup)
c.4262-21dup (n.4262-21dup)
c.4238-21dup (n.4238-21dup)
 gnomAD v4
14g.74503408G>ACA7268654LTBP2c.4721-22C>T (n.4721-22C>T)
c.4589-22C>T (n.4589-22C>T)
c.4340-22C>T (n.4340-22C>T)
c.4262-22C>T (n.4262-22C>T)
c.4238-22C>T (n.4238-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503408G=CA2147075310LTBP2c.4721-22C= (n.4721-22C=)
c.4589-22C= (n.4589-22C=)
c.4340-22C= (n.4340-22C=)
c.4262-22C= (n.4262-22C=)
c.4238-22C= (n.4238-22C=)
14g.74503409C>ACA2625668688LTBP2c.4721-23G>T (n.4721-23G>T)
c.4589-23G>T (n.4589-23G>T)
c.4340-23G>T (n.4340-23G>T)
c.4262-23G>T (n.4262-23G>T)
c.4238-23G>T (n.4238-23G>T)
 gnomAD v4
14g.74503409C=CA2147075318LTBP2c.4721-23G= (n.4721-23G=)
c.4589-23G= (n.4589-23G=)
c.4340-23G= (n.4340-23G=)
c.4262-23G= (n.4262-23G=)
c.4238-23G= (n.4238-23G=)
14g.74503409C>TCA2147075317LTBP2c.4721-23G>A (n.4721-23G>A)
c.4589-23G>A (n.4589-23G>A)
c.4340-23G>A (n.4340-23G>A)
c.4262-23G>A (n.4262-23G>A)
c.4238-23G>A (n.4238-23G>A)
 dbSNP
14g.74503411_74503412delCA2625668687LTBP2c.4721-24_4721-23del (n.4721-24_4721-23del)
c.4589-24_4589-23del (n.4589-24_4589-23del)
c.4340-24_4340-23del (n.4340-24_4340-23del)
c.4262-24_4262-23del (n.4262-24_4262-23del)
c.4238-24_4238-23del (n.4238-24_4238-23del)
 gnomAD v4
14g.74503410A>GCA2625668689LTBP2c.4721-24T>C (n.4721-24T>C)
c.4589-24T>C (n.4589-24T>C)
c.4340-24T>C (n.4340-24T>C)
c.4262-24T>C (n.4262-24T>C)
c.4238-24T>C (n.4238-24T>C)
 gnomAD v4
14g.74503410A>TCA2625668690LTBP2c.4721-24T>A (n.4721-24T>A)
c.4589-24T>A (n.4589-24T>A)
c.4340-24T>A (n.4340-24T>A)
c.4262-24T>A (n.4262-24T>A)
c.4238-24T>A (n.4238-24T>A)
 gnomAD v4
14g.74503412A=CA2147075320LTBP2c.4721-26T= (n.4721-26T=)
c.4589-26T= (n.4589-26T=)
c.4340-26T= (n.4340-26T=)
c.4262-26T= (n.4262-26T=)
c.4238-26T= (n.4238-26T=)
14g.74503412A>GCA615193022LTBP2c.4721-26T>C (n.4721-26T>C)
c.4589-26T>C (n.4589-26T>C)
c.4340-26T>C (n.4340-26T>C)
c.4262-26T>C (n.4262-26T>C)
c.4238-26T>C (n.4238-26T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503412A>TCA2625668691LTBP2c.4721-26T>A (n.4721-26T>A)
c.4589-26T>A (n.4589-26T>A)
c.4340-26T>A (n.4340-26T>A)
c.4262-26T>A (n.4262-26T>A)
c.4238-26T>A (n.4238-26T>A)
 gnomAD v4
14g.74503413T>ACA615193023LTBP2c.4721-27A>T (n.4721-27A>T)
c.4589-27A>T (n.4589-27A>T)
c.4340-27A>T (n.4340-27A>T)
c.4262-27A>T (n.4262-27A>T)
c.4238-27A>T (n.4238-27A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503413T=CA2147075321LTBP2c.4721-27A= (n.4721-27A=)
c.4589-27A= (n.4589-27A=)
c.4340-27A= (n.4340-27A=)
c.4262-27A= (n.4262-27A=)
c.4238-27A= (n.4238-27A=)
14g.74503414G>ACA2147075323LTBP2c.4721-28C>T (n.4721-28C>T)
c.4589-28C>T (n.4589-28C>T)
c.4340-28C>T (n.4340-28C>T)
c.4262-28C>T (n.4262-28C>T)
c.4238-28C>T (n.4238-28C>T)
 dbSNP
14g.74503414G=CA2147075322LTBP2c.4721-28C= (n.4721-28C=)
c.4589-28C= (n.4589-28C=)
c.4340-28C= (n.4340-28C=)
c.4262-28C= (n.4262-28C=)
c.4238-28C= (n.4238-28C=)
14g.74503414G>TCA2625668692LTBP2c.4721-28C>A (n.4721-28C>A)
c.4589-28C>A (n.4589-28C>A)
c.4340-28C>A (n.4340-28C>A)
c.4262-28C>A (n.4262-28C>A)
c.4238-28C>A (n.4238-28C>A)
 gnomAD v4
14g.74503416G>ACA7268656LTBP2c.4721-30C>T (n.4721-30C>T)
c.4589-30C>T (n.4589-30C>T)
c.4340-30C>T (n.4340-30C>T)
c.4262-30C>T (n.4262-30C>T)
c.4238-30C>T (n.4238-30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503416G>CCA2625668695LTBP2c.4721-30C>G (n.4721-30C>G)
c.4589-30C>G (n.4589-30C>G)
c.4340-30C>G (n.4340-30C>G)
c.4262-30C>G (n.4262-30C>G)
c.4238-30C>G (n.4238-30C>G)
 gnomAD v4
14g.74503416G=CA2147075325LTBP2c.4721-30C= (n.4721-30C=)
c.4589-30C= (n.4589-30C=)
c.4340-30C= (n.4340-30C=)
c.4262-30C= (n.4262-30C=)
c.4238-30C= (n.4238-30C=)
14g.74503416G>TCA2625668696LTBP2c.4721-30C>A (n.4721-30C>A)
c.4589-30C>A (n.4589-30C>A)
c.4340-30C>A (n.4340-30C>A)
c.4262-30C>A (n.4262-30C>A)
c.4238-30C>A (n.4238-30C>A)
 gnomAD v4
14g.74503417C>ACA2802156393LTBP2c.4721-31G>T (n.4721-31G>T)
c.4589-31G>T (n.4589-31G>T)
c.4340-31G>T (n.4340-31G>T)
c.4262-31G>T (n.4262-31G>T)
c.4238-31G>T (n.4238-31G>T)
14g.74503417C=CA2147075327LTBP2c.4721-31G= (n.4721-31G=)
c.4589-31G= (n.4589-31G=)
c.4340-31G= (n.4340-31G=)
c.4262-31G= (n.4262-31G=)
c.4238-31G= (n.4238-31G=)
14g.74503417C>TCA7268657LTBP2c.4721-31G>A (n.4721-31G>A)
c.4589-31G>A (n.4589-31G>A)
c.4340-31G>A (n.4340-31G>A)
c.4262-31G>A (n.4262-31G>A)
c.4238-31G>A (n.4238-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503422dupCA7268655LTBP2c.4721-31dup (n.4721-31dup)
c.4589-31dup (n.4589-31dup)
c.4340-31dup (n.4340-31dup)
c.4262-31dup (n.4262-31dup)
c.4238-31dup (n.4238-31dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503422delCA2625668698LTBP2c.4721-31del (n.4721-31del)
c.4589-31del (n.4589-31del)
c.4340-31del (n.4340-31del)
c.4262-31del (n.4262-31del)
c.4238-31del (n.4238-31del)
 gnomAD v4
14g.74503418C>ACA2625668700LTBP2c.4721-32G>T (n.4721-32G>T)
c.4589-32G>T (n.4589-32G>T)
c.4340-32G>T (n.4340-32G>T)
c.4262-32G>T (n.4262-32G>T)
c.4238-32G>T (n.4238-32G>T)
 gnomAD v4
14g.74503418C=CA2147075328LTBP2c.4721-32G= (n.4721-32G=)
c.4589-32G= (n.4589-32G=)
c.4340-32G= (n.4340-32G=)
c.4262-32G= (n.4262-32G=)
c.4238-32G= (n.4238-32G=)
14g.74503418C>TCA615193024LTBP2c.4721-32G>A (n.4721-32G>A)
c.4589-32G>A (n.4589-32G>A)
c.4340-32G>A (n.4340-32G>A)
c.4262-32G>A (n.4262-32G>A)
c.4238-32G>A (n.4238-32G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.74503418_74503419insTCA2625668703LTBP2c.4721-33_4721-32insA (n.4721-33_4721-32insA)
c.4589-33_4589-32insA (n.4589-33_4589-32insA)
c.4340-33_4340-32insA (n.4340-33_4340-32insA)
c.4262-33_4262-32insA (n.4262-33_4262-32insA)
c.4238-33_4238-32insA (n.4238-33_4238-32insA)
 gnomAD v4
14g.74503419C>ACA708515319LTBP2c.4721-33G>T (n.4721-33G>T)
c.4589-33G>T (n.4589-33G>T)
c.4340-33G>T (n.4340-33G>T)
c.4262-33G>T (n.4262-33G>T)
c.4238-33G>T (n.4238-33G>T)
 dbSNP gnomAD v3 gnomAD v4
14g.74503419C=CA2147075330LTBP2c.4721-33G= (n.4721-33G=)
c.4589-33G= (n.4589-33G=)
c.4340-33G= (n.4340-33G=)
c.4262-33G= (n.4262-33G=)
c.4238-33G= (n.4238-33G=)
14g.74503419C>GCA2575576896LTBP2c.4721-33G>C (n.4721-33G>C)
c.4589-33G>C (n.4589-33G>C)
c.4340-33G>C (n.4340-33G>C)
c.4262-33G>C (n.4262-33G>C)
c.4238-33G>C (n.4238-33G>C)
 gnomAD v4
14g.74503420C=CA2147075332LTBP2c.4721-34G= (n.4721-34G=)
c.4589-34G= (n.4589-34G=)
c.4340-34G= (n.4340-34G=)
c.4262-34G= (n.4262-34G=)
c.4238-34G= (n.4238-34G=)
14g.74503420C>GCA2625668705LTBP2c.4721-34G>C (n.4721-34G>C)
c.4589-34G>C (n.4589-34G>C)
c.4340-34G>C (n.4340-34G>C)
c.4262-34G>C (n.4262-34G>C)
c.4238-34G>C (n.4238-34G>C)
 gnomAD v4
14g.74503420C>TCA7268658LTBP2c.4721-34G>A (n.4721-34G>A)
c.4589-34G>A (n.4589-34G>A)
c.4340-34G>A (n.4340-34G>A)
c.4262-34G>A (n.4262-34G>A)
c.4238-34G>A (n.4238-34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503421C>ACA2625668707LTBP2c.4721-35G>T (n.4721-35G>T)
c.4589-35G>T (n.4589-35G>T)
c.4340-35G>T (n.4340-35G>T)
c.4262-35G>T (n.4262-35G>T)
c.4238-35G>T (n.4238-35G>T)
 gnomAD v4
14g.74503421C=CA2147075333LTBP2c.4721-35G= (n.4721-35G=)
c.4589-35G= (n.4589-35G=)
c.4340-35G= (n.4340-35G=)
c.4262-35G= (n.4262-35G=)
c.4238-35G= (n.4238-35G=)
14g.74503421C>TCA615193025LTBP2c.4721-35G>A (n.4721-35G>A)
c.4589-35G>A (n.4589-35G>A)
c.4340-35G>A (n.4340-35G>A)
c.4262-35G>A (n.4262-35G>A)
c.4238-35G>A (n.4238-35G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.74503422C>TCA2625668710LTBP2c.4721-36G>A (n.4721-36G>A)
c.4589-36G>A (n.4589-36G>A)
c.4340-36G>A (n.4340-36G>A)
c.4262-36G>A (n.4262-36G>A)
c.4238-36G>A (n.4238-36G>A)
 gnomAD v4
14g.74503423A>GCA2625668712LTBP2c.4721-37T>C (n.4721-37T>C)
c.4589-37T>C (n.4589-37T>C)
c.4340-37T>C (n.4340-37T>C)
c.4262-37T>C (n.4262-37T>C)
c.4238-37T>C (n.4238-37T>C)
 gnomAD v4
14g.74503424G>ACA964723959LTBP2c.4721-38C>T (n.4721-38C>T)
c.4589-38C>T (n.4589-38C>T)
c.4340-38C>T (n.4340-38C>T)
c.4262-38C>T (n.4262-38C>T)
c.4238-38C>T (n.4238-38C>T)
 dbSNP gnomAD v3 gnomAD v4
14g.74503424G=CA2147075335LTBP2c.4721-38C= (n.4721-38C=)
c.4589-38C= (n.4589-38C=)
c.4340-38C= (n.4340-38C=)
c.4262-38C= (n.4262-38C=)
c.4238-38C= (n.4238-38C=)
14g.74503424G>TCA2625668713LTBP2c.4721-38C>A (n.4721-38C>A)
c.4589-38C>A (n.4589-38C>A)
c.4340-38C>A (n.4340-38C>A)
c.4262-38C>A (n.4262-38C>A)
c.4238-38C>A (n.4238-38C>A)
 gnomAD v4
14g.74503425C>GCA2802156395LTBP2c.4721-39G>C (n.4721-39G>C)
c.4589-39G>C (n.4589-39G>C)
c.4340-39G>C (n.4340-39G>C)
c.4262-39G>C (n.4262-39G>C)
c.4238-39G>C (n.4238-39G>C)
14g.74503425C>TCA2802156394LTBP2c.4721-39G>A (n.4721-39G>A)
c.4589-39G>A (n.4589-39G>A)
c.4340-39G>A (n.4340-39G>A)
c.4262-39G>A (n.4262-39G>A)
c.4238-39G>A (n.4238-39G>A)
14g.74503427dupCA2147075336LTBP2c.4721-39dup (n.4721-39dup)
c.4589-39dup (n.4589-39dup)
c.4340-39dup (n.4340-39dup)
c.4262-39dup (n.4262-39dup)
c.4238-39dup (n.4238-39dup)
 dbSNP
14g.74503427C>TCA2625668715LTBP2c.4721-41G>A (n.4721-41G>A)
c.4589-41G>A (n.4589-41G>A)
c.4340-41G>A (n.4340-41G>A)
c.4262-41G>A (n.4262-41G>A)
c.4238-41G>A (n.4238-41G>A)
 gnomAD v4
14g.74503428A>GCA2575576897LTBP2c.4721-42T>C (n.4721-42T>C)
c.4589-42T>C (n.4589-42T>C)
c.4340-42T>C (n.4340-42T>C)
c.4262-42T>C (n.4262-42T>C)
c.4238-42T>C (n.4238-42T>C)
14g.74503429G>ACA615193026LTBP2c.4720+40C>T (n.4720+40C>T)
c.4588+40C>T (n.4588+40C>T)
c.4339+40C>T (n.4339+40C>T)
c.4261+40C>T (n.4261+40C>T)
c.4237+40C>T (n.4237+40C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503429G>CCA7268659LTBP2c.4720+40C>G (n.4720+40C>G)
c.4588+40C>G (n.4588+40C>G)
c.4339+40C>G (n.4339+40C>G)
c.4261+40C>G (n.4261+40C>G)
c.4237+40C>G (n.4237+40C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503429G=CA2147075339LTBP2c.4720+40C= (n.4720+40C=)
c.4588+40C= (n.4588+40C=)
c.4339+40C= (n.4339+40C=)
c.4261+40C= (n.4261+40C=)
c.4237+40C= (n.4237+40C=)
14g.74503430G>ACA2147075341LTBP2c.4720+39C>T (n.4720+39C>T)
c.4588+39C>T (n.4588+39C>T)
c.4339+39C>T (n.4339+39C>T)
c.4261+39C>T (n.4261+39C>T)
c.4237+39C>T (n.4237+39C>T)
 dbSNP gnomAD v4
14g.74503430G>CCA7268660LTBP2c.4720+39C>G (n.4720+39C>G)
c.4588+39C>G (n.4588+39C>G)
c.4339+39C>G (n.4339+39C>G)
c.4261+39C>G (n.4261+39C>G)
c.4237+39C>G (n.4237+39C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503430G=CA2147075340LTBP2c.4720+39C= (n.4720+39C=)
c.4588+39C= (n.4588+39C=)
c.4339+39C= (n.4339+39C=)
c.4261+39C= (n.4261+39C=)
c.4237+39C= (n.4237+39C=)
14g.74503430G>TCA2625668719LTBP2c.4720+39C>A (n.4720+39C>A)
c.4588+39C>A (n.4588+39C>A)
c.4339+39C>A (n.4339+39C>A)
c.4261+39C>A (n.4261+39C>A)
c.4237+39C>A (n.4237+39C>A)
 gnomAD v4
14g.74503432A=CA2147075343LTBP2c.4720+37T= (n.4720+37T=)
c.4588+37T= (n.4588+37T=)
c.4339+37T= (n.4339+37T=)
c.4261+37T= (n.4261+37T=)
c.4237+37T= (n.4237+37T=)
14g.74503432A>GCA7268661LTBP2c.4720+37T>C (n.4720+37T>C)
c.4588+37T>C (n.4588+37T>C)
c.4339+37T>C (n.4339+37T>C)
c.4261+37T>C (n.4261+37T>C)
c.4237+37T>C (n.4237+37T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503433C>ACA263578990LTBP2c.4720+36G>T (n.4720+36G>T)
c.4588+36G>T (n.4588+36G>T)
c.4339+36G>T (n.4339+36G>T)
c.4261+36G>T (n.4261+36G>T)
c.4237+36G>T (n.4237+36G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503433C=CA2147075345LTBP2c.4720+36G= (n.4720+36G=)
c.4588+36G= (n.4588+36G=)
c.4339+36G= (n.4339+36G=)
c.4261+36G= (n.4261+36G=)
c.4237+36G= (n.4237+36G=)
14g.74503433C>GCA2625668724LTBP2c.4720+36G>C (n.4720+36G>C)
c.4588+36G>C (n.4588+36G>C)
c.4339+36G>C (n.4339+36G>C)
c.4261+36G>C (n.4261+36G>C)
c.4237+36G>C (n.4237+36G>C)
 gnomAD v4
14g.74503434C>ACA7268662LTBP2c.4720+35G>T (n.4720+35G>T)
c.4588+35G>T (n.4588+35G>T)
c.4339+35G>T (n.4339+35G>T)
c.4261+35G>T (n.4261+35G>T)
c.4237+35G>T (n.4237+35G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503434C=CA2147075346LTBP2c.4720+35G= (n.4720+35G=)
c.4588+35G= (n.4588+35G=)
c.4339+35G= (n.4339+35G=)
c.4261+35G= (n.4261+35G=)
c.4237+35G= (n.4237+35G=)
14g.74503434C>TCA2625668725LTBP2c.4720+35G>A (n.4720+35G>A)
c.4588+35G>A (n.4588+35G>A)
c.4339+35G>A (n.4339+35G>A)
c.4261+35G>A (n.4261+35G>A)
c.4237+35G>A (n.4237+35G>A)
 gnomAD v4
14g.74503435C=CA2147075348LTBP2c.4720+34G= (n.4720+34G=)
c.4588+34G= (n.4588+34G=)
c.4339+34G= (n.4339+34G=)
c.4261+34G= (n.4261+34G=)
c.4237+34G= (n.4237+34G=)
14g.74503435C>GCA615193027LTBP2c.4720+34G>C (n.4720+34G>C)
c.4588+34G>C (n.4588+34G>C)
c.4339+34G>C (n.4339+34G>C)
c.4261+34G>C (n.4261+34G>C)
c.4237+34G>C (n.4237+34G>C)
 dbSNP gnomAD v2 gnomAD v4
14g.74503435C>TCA2625668726LTBP2c.4720+34G>A (n.4720+34G>A)
c.4588+34G>A (n.4588+34G>A)
c.4339+34G>A (n.4339+34G>A)
c.4261+34G>A (n.4261+34G>A)
c.4237+34G>A (n.4237+34G>A)
 gnomAD v4
14g.74503436T>GCA2625668727LTBP2c.4720+33A>C (n.4720+33A>C)
c.4588+33A>C (n.4588+33A>C)
c.4339+33A>C (n.4339+33A>C)
c.4261+33A>C (n.4261+33A>C)
c.4237+33A>C (n.4237+33A>C)
 gnomAD v4
14g.74503437_74503440delinsTCTCCA2147075349LTBP2c.4720+29_4720+32delinsGAGA (n.4720+29_4720+32delinsGAGA)
c.4588+29_4588+32delinsGAGA (n.4588+29_4588+32delinsGAGA)
c.4339+29_4339+32delinsGAGA (n.4339+29_4339+32delinsGAGA)
c.4261+29_4261+32delinsGAGA (n.4261+29_4261+32delinsGAGA)
c.4237+29_4237+32delinsGAGA (n.4237+29_4237+32delinsGAGA)
14g.74503438C>ACA2575576898LTBP2c.4720+31G>T (n.4720+31G>T)
c.4588+31G>T (n.4588+31G>T)
c.4339+31G>T (n.4339+31G>T)
c.4261+31G>T (n.4261+31G>T)
c.4237+31G>T (n.4237+31G>T)
 gnomAD v4
14g.74503438C>TCA2575576899LTBP2c.4720+31G>A (n.4720+31G>A)
c.4588+31G>A (n.4588+31G>A)
c.4339+31G>A (n.4339+31G>A)
c.4261+31G>A (n.4261+31G>A)
c.4237+31G>A (n.4237+31G>A)
 gnomAD v4
14g.74503440_74503442delCA7268663LTBP2c.4720+29_4720+31del (n.4720+29_4720+31del)
c.4588+29_4588+31del (n.4588+29_4588+31del)
c.4339+29_4339+31del (n.4339+29_4339+31del)
c.4261+29_4261+31del (n.4261+29_4261+31del)
c.4237+29_4237+31del (n.4237+29_4237+31del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503440C=CA2147075351LTBP2c.4720+29G= (n.4720+29G=)
c.4588+29G= (n.4588+29G=)
c.4339+29G= (n.4339+29G=)
c.4261+29G= (n.4261+29G=)
c.4237+29G= (n.4237+29G=)
14g.74503440C>GCA615193028LTBP2c.4720+29G>C (n.4720+29G>C)
c.4588+29G>C (n.4588+29G>C)
c.4339+29G>C (n.4339+29G>C)
c.4261+29G>C (n.4261+29G>C)
c.4237+29G>C (n.4237+29G>C)
 dbSNP gnomAD v2 gnomAD v4
14g.74503440C>TCA7268664LTBP2c.4720+29G>A (n.4720+29G>A)
c.4588+29G>A (n.4588+29G>A)
c.4339+29G>A (n.4339+29G>A)
c.4261+29G>A (n.4261+29G>A)
c.4237+29G>A (n.4237+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503441C>ACA2625668728LTBP2c.4720+28G>T (n.4720+28G>T)
c.4588+28G>T (n.4588+28G>T)
c.4339+28G>T (n.4339+28G>T)
c.4261+28G>T (n.4261+28G>T)
c.4237+28G>T (n.4237+28G>T)
 gnomAD v4
14g.74503442T>CCA2520269937LTBP2c.4720+27A>G (n.4720+27A>G)
c.4588+27A>G (n.4588+27A>G)
c.4339+27A>G (n.4339+27A>G)
c.4261+27A>G (n.4261+27A>G)
c.4237+27A>G (n.4237+27A>G)
14g.74503443G>ACA2575576900LTBP2c.4720+26C>T (n.4720+26C>T)
c.4588+26C>T (n.4588+26C>T)
c.4339+26C>T (n.4339+26C>T)
c.4261+26C>T (n.4261+26C>T)
c.4237+26C>T (n.4237+26C>T)
 gnomAD v4
14g.74503443G>CCA7268665LTBP2c.4720+26C>G (n.4720+26C>G)
c.4588+26C>G (n.4588+26C>G)
c.4339+26C>G (n.4339+26C>G)
c.4261+26C>G (n.4261+26C>G)
c.4237+26C>G (n.4237+26C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503443G=CA2147075353LTBP2c.4720+26C= (n.4720+26C=)
c.4588+26C= (n.4588+26C=)
c.4339+26C= (n.4339+26C=)
c.4261+26C= (n.4261+26C=)
c.4237+26C= (n.4237+26C=)
14g.74503443G>TCA2625668729LTBP2c.4720+26C>A (n.4720+26C>A)
c.4588+26C>A (n.4588+26C>A)
c.4339+26C>A (n.4339+26C>A)
c.4261+26C>A (n.4261+26C>A)
c.4237+26C>A (n.4237+26C>A)
 gnomAD v4
14g.74503444C=CA2147075355LTBP2c.4720+25G= (n.4720+25G=)
c.4588+25G= (n.4588+25G=)
c.4339+25G= (n.4339+25G=)
c.4261+25G= (n.4261+25G=)
c.4237+25G= (n.4237+25G=)
14g.74503444C>GCA2625668730LTBP2c.4720+25G>C (n.4720+25G>C)
c.4588+25G>C (n.4588+25G>C)
c.4339+25G>C (n.4339+25G>C)
c.4261+25G>C (n.4261+25G>C)
c.4237+25G>C (n.4237+25G>C)
 gnomAD v4
14g.74503444C>TCA2147075356LTBP2c.4720+25G>A (n.4720+25G>A)
c.4588+25G>A (n.4588+25G>A)
c.4339+25G>A (n.4339+25G>A)
c.4261+25G>A (n.4261+25G>A)
c.4237+25G>A (n.4237+25G>A)
 dbSNP gnomAD v4
14g.74503445T>CCA964723970LTBP2c.4720+24A>G (n.4720+24A>G)
c.4588+24A>G (n.4588+24A>G)
c.4339+24A>G (n.4339+24A>G)
c.4261+24A>G (n.4261+24A>G)
c.4237+24A>G (n.4237+24A>G)
 dbSNP gnomAD v3 gnomAD v4
14g.74503445T=CA2147075358LTBP2c.4720+24A= (n.4720+24A=)
c.4588+24A= (n.4588+24A=)
c.4339+24A= (n.4339+24A=)
c.4261+24A= (n.4261+24A=)
c.4237+24A= (n.4237+24A=)
14g.74503445_74503446delinsTCCA2147075357LTBP2c.4720+23_4720+24delinsGA (n.4720+23_4720+24delinsGA)
c.4588+23_4588+24delinsGA (n.4588+23_4588+24delinsGA)
c.4339+23_4339+24delinsGA (n.4339+23_4339+24delinsGA)
c.4261+23_4261+24delinsGA (n.4261+23_4261+24delinsGA)
c.4237+23_4237+24delinsGA (n.4237+23_4237+24delinsGA)
14g.74503446C>ACA708515342LTBP2c.4720+23G>T (n.4720+23G>T)
c.4588+23G>T (n.4588+23G>T)
c.4339+23G>T (n.4339+23G>T)
c.4261+23G>T (n.4261+23G>T)
c.4237+23G>T (n.4237+23G>T)
 dbSNP
14g.74503446C=CA2147075360LTBP2c.4720+23G= (n.4720+23G=)
c.4588+23G= (n.4588+23G=)
c.4339+23G= (n.4339+23G=)
c.4261+23G= (n.4261+23G=)
c.4237+23G= (n.4237+23G=)
14g.74503446C>GCA2625668734LTBP2c.4720+23G>C (n.4720+23G>C)
c.4588+23G>C (n.4588+23G>C)
c.4339+23G>C (n.4339+23G>C)
c.4261+23G>C (n.4261+23G>C)
c.4237+23G>C (n.4237+23G>C)
 gnomAD v4
14g.74503446C>TCA263579008LTBP2c.4720+23G>A (n.4720+23G>A)
c.4588+23G>A (n.4588+23G>A)
c.4339+23G>A (n.4339+23G>A)
c.4261+23G>A (n.4261+23G>A)
c.4237+23G>A (n.4237+23G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.74503450delCA7268666LTBP2c.4720+23del (n.4720+23del)
c.4588+23del (n.4588+23del)
c.4339+23del (n.4339+23del)
c.4261+23del (n.4261+23del)
c.4237+23del (n.4237+23del)
 dbSNP ExAC gnomAD v4
14g.74503448C=CA2147075361LTBP2c.4720+21G= (n.4720+21G=)
c.4588+21G= (n.4588+21G=)
c.4339+21G= (n.4339+21G=)
c.4261+21G= (n.4261+21G=)
c.4237+21G= (n.4237+21G=)
14g.74503448C>TCA708515345LTBP2c.4720+21G>A (n.4720+21G>A)
c.4588+21G>A (n.4588+21G>A)
c.4339+21G>A (n.4339+21G>A)
c.4261+21G>A (n.4261+21G>A)
c.4237+21G>A (n.4237+21G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.74503449C>ACA2625668736LTBP2c.4720+20G>T (n.4720+20G>T)
c.4588+20G>T (n.4588+20G>T)
c.4339+20G>T (n.4339+20G>T)
c.4261+20G>T (n.4261+20G>T)
c.4237+20G>T (n.4237+20G>T)
 gnomAD v4
14g.74503449C>TCA2575576901LTBP2c.4720+20G>A (n.4720+20G>A)
c.4588+20G>A (n.4588+20G>A)
c.4339+20G>A (n.4339+20G>A)
c.4261+20G>A (n.4261+20G>A)
c.4237+20G>A (n.4237+20G>A)
 gnomAD v4
14g.74503450C=CA2147075363LTBP2c.4720+19G= (n.4720+19G=)
c.4588+19G= (n.4588+19G=)
c.4339+19G= (n.4339+19G=)
c.4261+19G= (n.4261+19G=)
c.4237+19G= (n.4237+19G=)
14g.74503450C>GCA2147075364LTBP2c.4720+19G>C (n.4720+19G>C)
c.4588+19G>C (n.4588+19G>C)
c.4339+19G>C (n.4339+19G>C)
c.4261+19G>C (n.4261+19G>C)
c.4237+19G>C (n.4237+19G>C)
 dbSNP gnomAD v4
14g.74503452C=CA2147075366LTBP2c.4720+17G= (n.4720+17G=)
c.4588+17G= (n.4588+17G=)
c.4339+17G= (n.4339+17G=)
c.4261+17G= (n.4261+17G=)
c.4237+17G= (n.4237+17G=)
14g.74503452C>TCA7268667LTBP2c.4720+17G>A (n.4720+17G>A)
c.4588+17G>A (n.4588+17G>A)
c.4339+17G>A (n.4339+17G>A)
c.4261+17G>A (n.4261+17G>A)
c.4237+17G>A (n.4237+17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14g.74503453_74503454delCA2802156396LTBP2c.4720+16_4720+17del (n.4720+16_4720+17del)
c.4588+16_4588+17del (n.4588+16_4588+17del)
c.4339+16_4339+17del (n.4339+16_4339+17del)
c.4261+16_4261+17del (n.4261+16_4261+17del)
c.4237+16_4237+17del (n.4237+16_4237+17del)
14g.74503453G>ACA7268668LTBP2c.4720+16C>T (n.4720+16C>T)
c.4588+16C>T (n.4588+16C>T)
c.4339+16C>T (n.4339+16C>T)
c.4261+16C>T (n.4261+16C>T)
c.4237+16C>T (n.4237+16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503453G=CA2147075367LTBP2c.4720+16C= (n.4720+16C=)
c.4588+16C= (n.4588+16C=)
c.4339+16C= (n.4339+16C=)
c.4261+16C= (n.4261+16C=)
c.4237+16C= (n.4237+16C=)
14g.74503453G>TCA655625836LTBP2c.4720+16C>A (n.4720+16C>A)
c.4588+16C>A (n.4588+16C>A)
c.4339+16C>A (n.4339+16C>A)
c.4261+16C>A (n.4261+16C>A)
c.4237+16C>A (n.4237+16C>A)
 gnomAD v4 COSMIC
14g.74503454C>ACA2625668737LTBP2c.4720+15G>T (n.4720+15G>T)
c.4588+15G>T (n.4588+15G>T)
c.4339+15G>T (n.4339+15G>T)
c.4261+15G>T (n.4261+15G>T)
c.4237+15G>T (n.4237+15G>T)
 gnomAD v4
14g.74503454C=CA2147075369LTBP2c.4720+15G= (n.4720+15G=)
c.4588+15G= (n.4588+15G=)
c.4339+15G= (n.4339+15G=)
c.4261+15G= (n.4261+15G=)
c.4237+15G= (n.4237+15G=)
14g.74503454C>TCA7268669LTBP2c.4720+15G>A (n.4720+15G>A)
c.4588+15G>A (n.4588+15G>A)
c.4339+15G>A (n.4339+15G>A)
c.4261+15G>A (n.4261+15G>A)
c.4237+15G>A (n.4237+15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503455T>ACA2802156397LTBP2c.4720+14A>T (n.4720+14A>T)
c.4588+14A>T (n.4588+14A>T)
c.4339+14A>T (n.4339+14A>T)
c.4261+14A>T (n.4261+14A>T)
c.4237+14A>T (n.4237+14A>T)
14g.74503455T>CCA7268670LTBP2c.4720+14A>G (n.4720+14A>G)
c.4588+14A>G (n.4588+14A>G)
c.4339+14A>G (n.4339+14A>G)
c.4261+14A>G (n.4261+14A>G)
c.4237+14A>G (n.4237+14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503455T=CA2147075370LTBP2c.4720+14A= (n.4720+14A=)
c.4588+14A= (n.4588+14A=)
c.4339+14A= (n.4339+14A=)
c.4261+14A= (n.4261+14A=)
c.4237+14A= (n.4237+14A=)
14g.74503457A>GCA2625668738LTBP2c.4720+12T>C (n.4720+12T>C)
c.4588+12T>C (n.4588+12T>C)
c.4339+12T>C (n.4339+12T>C)
c.4261+12T>C (n.4261+12T>C)
c.4237+12T>C (n.4237+12T>C)
 gnomAD v4
14g.74503460C=CA2147075372LTBP2c.4720+9G= (n.4720+9G=)
c.4588+9G= (n.4588+9G=)
c.4339+9G= (n.4339+9G=)
c.4261+9G= (n.4261+9G=)
c.4237+9G= (n.4237+9G=)
14g.74503460C>TCA7268671LTBP2c.4720+9G>A (n.4720+9G>A)
c.4588+9G>A (n.4588+9G>A)
c.4339+9G>A (n.4339+9G>A)
c.4261+9G>A (n.4261+9G>A)
c.4237+9G>A (n.4237+9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503462C=CA2147075374LTBP2c.4720+7G= (n.4720+7G=)
c.4588+7G= (n.4588+7G=)
c.4339+7G= (n.4339+7G=)
c.4261+7G= (n.4261+7G=)
c.4237+7G= (n.4237+7G=)
14g.74503462C>TCA286514LTBP2c.4720+7G>A (n.4720+7G>A)
c.4588+7G>A (n.4588+7G>A)
c.4339+7G>A (n.4339+7G>A)
c.4261+7G>A (n.4261+7G>A)
c.4237+7G>A (n.4237+7G>A)
 ClinVar dbSNP gnomAD v4
14g.74503463A>CCA2625668739LTBP2c.4720+6T>G (n.4720+6T>G)
c.4588+6T>G (n.4588+6T>G)
c.4339+6T>G (n.4339+6T>G)
c.4261+6T>G (n.4261+6T>G)
c.4237+6T>G (n.4237+6T>G)
 gnomAD v4
14g.74503465T>CCA263579023LTBP2c.4720+4A>G (n.4720+4A>G)
c.4588+4A>G (n.4588+4A>G)
c.4339+4A>G (n.4339+4A>G)
c.4261+4A>G (n.4261+4A>G)
c.4237+4A>G (n.4237+4A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.74503465T=CA2147075376LTBP2c.4720+4A= (n.4720+4A=)
c.4588+4A= (n.4588+4A=)
c.4339+4A= (n.4339+4A=)
c.4261+4A= (n.4261+4A=)
c.4237+4A= (n.4237+4A=)
14g.74503466C>ACA2625668740LTBP2c.4720+3G>T (n.4720+3G>T)
c.4588+3G>T (n.4588+3G>T)
c.4339+3G>T (n.4339+3G>T)
c.4261+3G>T (n.4261+3G>T)
c.4237+3G>T (n.4237+3G>T)
 gnomAD v4
14g.74503466C>TCA2575576902LTBP2c.4720+3G>A (n.4720+3G>A)
c.4588+3G>A (n.4588+3G>A)
c.4339+3G>A (n.4339+3G>A)
c.4261+3G>A (n.4261+3G>A)
c.4237+3G>A (n.4237+3G>A)
14g.74503467A>CCA390384956LTBP2c.4720+2T>G (n.4720+2T>G)
c.4588+2T>G (n.4588+2T>G)
c.4339+2T>G (n.4339+2T>G)
c.4261+2T>G (n.4261+2T>G)
c.4237+2T>G (n.4237+2T>G)
14g.74503467A>GCA390384957LTBP2c.4720+2T>C (n.4720+2T>C)
c.4588+2T>C (n.4588+2T>C)
c.4339+2T>C (n.4339+2T>C)
c.4261+2T>C (n.4261+2T>C)
c.4237+2T>C (n.4237+2T>C)
14g.74503467A>TCA390384958LTBP2c.4720+2T>A (n.4720+2T>A)
c.4588+2T>A (n.4588+2T>A)
c.4339+2T>A (n.4339+2T>A)
c.4261+2T>A (n.4261+2T>A)
c.4237+2T>A (n.4237+2T>A)
14g.74503468C>ACA390384959LTBP2c.4720+1G>T (n.4720+1G>T)
c.4588+1G>T (n.4588+1G>T)
c.4339+1G>T (n.4339+1G>T)
c.4261+1G>T (n.4261+1G>T)
c.4237+1G>T (n.4237+1G>T)
14g.74503468C>GCA390384960LTBP2c.4720+1G>C (n.4720+1G>C)
c.4588+1G>C (n.4588+1G>C)
c.4339+1G>C (n.4339+1G>C)
c.4261+1G>C (n.4261+1G>C)
c.4237+1G>C (n.4237+1G>C)
14g.74503468C>TCA390384961LTBP2c.4720+1G>A (n.4720+1G>A)
c.4588+1G>A (n.4588+1G>A)
c.4339+1G>A (n.4339+1G>A)
c.4261+1G>A (n.4261+1G>A)
c.4237+1G>A (n.4237+1G>A)
14g.74503469C>ACA390384962LTBP2c.4720G>T (p.Glu1574Ter)
c.4588G>T (p.Glu1530Ter)
c.4339G>T (p.Glu1447Ter)
c.4261G>T (p.Glu1421Ter)
c.4237G>T (p.Glu1413Ter)
14g.74503469C=CA2147075378LTBP2c.4720G= (p.Glu1574=)
c.4588G= (p.Glu1530=)
c.4339G= (p.Glu1447=)
c.4261G= (p.Glu1421=)
c.4237G= (p.Glu1413=)
14g.74503469C>GCA7268672LTBP2c.4720G>C (p.Glu1574Gln)
c.4588G>C (p.Glu1530Gln)
c.4339G>C (p.Glu1447Gln)
c.4261G>C (p.Glu1421Gln)
c.4237G>C (p.Glu1413Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503469C>TCA390384963LTBP2c.4720G>A (p.Glu1574Lys)
c.4588G>A (p.Glu1530Lys)
c.4339G>A (p.Glu1447Lys)
c.4261G>A (p.Glu1421Lys)
c.4237G>A (p.Glu1413Lys)
 gnomAD v4
14g.74503470C>ACA487267177LTBP2c.4719G>T (p.Thr1573=)
c.4587G>T (p.Thr1529=)
c.4338G>T (p.Thr1446=)
c.4260G>T (p.Thr1420=)
c.4236G>T (p.Thr1412=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74503470C=CA2147075379LTBP2c.4719G= (p.Thr1573=)
c.4587G= (p.Thr1529=)
c.4338G= (p.Thr1446=)
c.4260G= (p.Thr1420=)
c.4236G= (p.Thr1412=)
14g.74503470C>GCA487267179LTBP2c.4719G>C (p.Thr1573=)
c.4587G>C (p.Thr1529=)
c.4338G>C (p.Thr1446=)
c.4260G>C (p.Thr1420=)
c.4236G>C (p.Thr1412=)
14g.74503470C>TCA7268673LTBP2c.4719G>A (p.Thr1573=)
c.4587G>A (p.Thr1529=)
c.4338G>A (p.Thr1446=)
c.4260G>A (p.Thr1420=)
c.4236G>A (p.Thr1412=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503471G>ACA263579032LTBP2c.4718C>T (p.Thr1573Met)
c.4586C>T (p.Thr1529Met)
c.4337C>T (p.Thr1446Met)
c.4259C>T (p.Thr1420Met)
c.4235C>T (p.Thr1412Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503471G>CCA390384964LTBP2c.4718C>G (p.Thr1573Arg)
c.4586C>G (p.Thr1529Arg)
c.4337C>G (p.Thr1446Arg)
c.4259C>G (p.Thr1420Arg)
c.4235C>G (p.Thr1412Arg)
14g.74503471G=CA2147075380LTBP2c.4718C= (p.Thr1573=)
c.4586C= (p.Thr1529=)
c.4337C= (p.Thr1446=)
c.4259C= (p.Thr1420=)
c.4235C= (p.Thr1412=)
14g.74503471G>TCA390384965LTBP2c.4718C>A (p.Thr1573Lys)
c.4586C>A (p.Thr1529Lys)
c.4337C>A (p.Thr1446Lys)
c.4259C>A (p.Thr1420Lys)
c.4235C>A (p.Thr1412Lys)
 gnomAD v4
14g.74503472T>ACA390384966LTBP2c.4717A>T (p.Thr1573Ser)
c.4585A>T (p.Thr1529Ser)
c.4336A>T (p.Thr1446Ser)
c.4258A>T (p.Thr1420Ser)
c.4234A>T (p.Thr1412Ser)
 dbSNP
14g.74503472T>CCA390384967LTBP2c.4717A>G (p.Thr1573Ala)
c.4585A>G (p.Thr1529Ala)
c.4336A>G (p.Thr1446Ala)
c.4258A>G (p.Thr1420Ala)
c.4234A>G (p.Thr1412Ala)
 gnomAD v4
14g.74503472T>GCA390384968LTBP2c.4717A>C (p.Thr1573Pro)
c.4585A>C (p.Thr1529Pro)
c.4336A>C (p.Thr1446Pro)
c.4258A>C (p.Thr1420Pro)
c.4234A>C (p.Thr1412Pro)
14g.74503472T=CA2147075382LTBP2c.4717A= (p.Thr1573=)
c.4585A= (p.Thr1529=)
c.4336A= (p.Thr1446=)
c.4258A= (p.Thr1420=)
c.4234A= (p.Thr1412=)
14g.74503473G>ACA487267184LTBP2c.4716C>T (p.Ser1572=)
c.4584C>T (p.Ser1528=)
c.4335C>T (p.Ser1445=)
c.4257C>T (p.Ser1419=)
c.4233C>T (p.Ser1411=)
 dbSNP gnomAD v2
14g.74503473G>CCA390384969LTBP2c.4716C>G (p.Ser1572Arg)
c.4584C>G (p.Ser1528Arg)
c.4335C>G (p.Ser1445Arg)
c.4257C>G (p.Ser1419Arg)
c.4233C>G (p.Ser1411Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.74503473G=CA2147075384LTBP2c.4716C= (p.Ser1572=)
c.4584C= (p.Ser1528=)
c.4335C= (p.Ser1445=)
c.4257C= (p.Ser1419=)
c.4233C= (p.Ser1411=)
14g.74503473G>TCA390384970LTBP2c.4716C>A (p.Ser1572Arg)
c.4584C>A (p.Ser1528Arg)
c.4335C>A (p.Ser1445Arg)
c.4257C>A (p.Ser1419Arg)
c.4233C>A (p.Ser1411Arg)
14g.74503474C>ACA390384971LTBP2c.4715G>T (p.Ser1572Ile)
c.4583G>T (p.Ser1528Ile)
c.4334G>T (p.Ser1445Ile)
c.4256G>T (p.Ser1419Ile)
c.4232G>T (p.Ser1411Ile)
14g.74503474C>GCA390384972LTBP2c.4715G>C (p.Ser1572Thr)
c.4583G>C (p.Ser1528Thr)
c.4334G>C (p.Ser1445Thr)
c.4256G>C (p.Ser1419Thr)
c.4232G>C (p.Ser1411Thr)
14g.74503474C>TCA390384973LTBP2c.4715G>A (p.Ser1572Asn)
c.4583G>A (p.Ser1528Asn)
c.4334G>A (p.Ser1445Asn)
c.4256G>A (p.Ser1419Asn)
c.4232G>A (p.Ser1411Asn)
 gnomAD v4
14g.74503475T>ACA390384974LTBP2c.4714A>T (p.Ser1572Cys)
c.4582A>T (p.Ser1528Cys)
c.4333A>T (p.Ser1445Cys)
c.4255A>T (p.Ser1419Cys)
c.4231A>T (p.Ser1411Cys)
14g.74503475T>CCA390384975LTBP2c.4714A>G (p.Ser1572Gly)
c.4582A>G (p.Ser1528Gly)
c.4333A>G (p.Ser1445Gly)
c.4255A>G (p.Ser1419Gly)
c.4231A>G (p.Ser1411Gly)
 dbSNP gnomAD v3 gnomAD v4
14g.74503475T>GCA390384976LTBP2c.4714A>C (p.Ser1572Arg)
c.4582A>C (p.Ser1528Arg)
c.4333A>C (p.Ser1445Arg)
c.4255A>C (p.Ser1419Arg)
c.4231A>C (p.Ser1411Arg)
 gnomAD v4
14g.74503476G>ACA487267187LTBP2c.4713C>T (p.Ser1571=)
c.4581C>T (p.Ser1527=)
c.4332C>T (p.Ser1444=)
c.4254C>T (p.Ser1418=)
c.4230C>T (p.Ser1410=)
 dbSNP gnomAD v3 gnomAD v4
14g.74503476G>CCA390384977LTBP2c.4713C>G (p.Ser1571Arg)
c.4581C>G (p.Ser1527Arg)
c.4332C>G (p.Ser1444Arg)
c.4254C>G (p.Ser1418Arg)
c.4230C>G (p.Ser1410Arg)
14g.74503476G=CA2147075386LTBP2c.4713C= (p.Ser1571=)
c.4581C= (p.Ser1527=)
c.4332C= (p.Ser1444=)
c.4254C= (p.Ser1418=)
c.4230C= (p.Ser1410=)
14g.74503476G>TCA390384978LTBP2c.4713C>A (p.Ser1571Arg)
c.4581C>A (p.Ser1527Arg)
c.4332C>A (p.Ser1444Arg)
c.4254C>A (p.Ser1418Arg)
c.4230C>A (p.Ser1410Arg)
14g.74503477C>ACA390384981LTBP2c.4712G>T (p.Ser1571Ile)
c.4580G>T (p.Ser1527Ile)
c.4331G>T (p.Ser1444Ile)
c.4253G>T (p.Ser1418Ile)
c.4229G>T (p.Ser1410Ile)
14g.74503477C=CA2147075388LTBP2c.4712G= (p.Ser1571=)
c.4580G= (p.Ser1527=)
c.4331G= (p.Ser1444=)
c.4253G= (p.Ser1418=)
c.4229G= (p.Ser1410=)
14g.74503477C>GCA390384980LTBP2c.4712G>C (p.Ser1571Thr)
c.4580G>C (p.Ser1527Thr)
c.4331G>C (p.Ser1444Thr)
c.4253G>C (p.Ser1418Thr)
c.4229G>C (p.Ser1410Thr)
14g.74503477C>TCA390384979LTBP2c.4712G>A (p.Ser1571Asn)
c.4580G>A (p.Ser1527Asn)
c.4331G>A (p.Ser1444Asn)
c.4253G>A (p.Ser1418Asn)
c.4229G>A (p.Ser1410Asn)
 dbSNP gnomAD v2
14g.74503478T>ACA390384982LTBP2c.4711A>T (p.Ser1571Cys)
c.4579A>T (p.Ser1527Cys)
c.4330A>T (p.Ser1444Cys)
c.4252A>T (p.Ser1418Cys)
c.4228A>T (p.Ser1410Cys)
14g.74503478T>CCA390384983LTBP2c.4711A>G (p.Ser1571Gly)
c.4579A>G (p.Ser1527Gly)
c.4330A>G (p.Ser1444Gly)
c.4252A>G (p.Ser1418Gly)
c.4228A>G (p.Ser1410Gly)
14g.74503478T>GCA390384984LTBP2c.4711A>C (p.Ser1571Arg)
c.4579A>C (p.Ser1527Arg)
c.4330A>C (p.Ser1444Arg)
c.4252A>C (p.Ser1418Arg)
c.4228A>C (p.Ser1410Arg)
14g.74503479G>ACA487267191LTBP2c.4710C>T (p.Thr1570=)
c.4578C>T (p.Thr1526=)
c.4329C>T (p.Thr1443=)
c.4251C>T (p.Thr1417=)
c.4227C>T (p.Thr1409=)
14g.74503479G>CCA487267192LTBP2c.4710C>G (p.Thr1570=)
c.4578C>G (p.Thr1526=)
c.4329C>G (p.Thr1443=)
c.4251C>G (p.Thr1417=)
c.4227C>G (p.Thr1409=)
 gnomAD v4
14g.74503479G>TCA487267193LTBP2c.4710C>A (p.Thr1570=)
c.4578C>A (p.Thr1526=)
c.4329C>A (p.Thr1443=)
c.4251C>A (p.Thr1417=)
c.4227C>A (p.Thr1409=)
14g.74503480delCA2575576903LTBP2c.4710del (p.Ser1571AlafsTer?)
c.4578del (p.Ser1527AlafsTer?)
c.4329del (p.Ser1444AlafsTer?)
c.4251del (p.Ser1418AlafsTer?)
c.4227del (p.Ser1410AlafsTer?)
14g.74503480G>ACA390384985LTBP2c.4709C>T (p.Thr1570Ile)
c.4577C>T (p.Thr1526Ile)
c.4328C>T (p.Thr1443Ile)
c.4250C>T (p.Thr1417Ile)
c.4226C>T (p.Thr1409Ile)
 dbSNP gnomAD v2 gnomAD v4
14g.74503480G>CCA390384986LTBP2c.4709C>G (p.Thr1570Ser)
c.4577C>G (p.Thr1526Ser)
c.4328C>G (p.Thr1443Ser)
c.4250C>G (p.Thr1417Ser)
c.4226C>G (p.Thr1409Ser)
14g.74503480G=CA2147075390LTBP2c.4709C= (p.Thr1570=)
c.4577C= (p.Thr1526=)
c.4328C= (p.Thr1443=)
c.4250C= (p.Thr1417=)
c.4226C= (p.Thr1409=)
14g.74503480G>TCA390384987LTBP2c.4709C>A (p.Thr1570Asn)
c.4577C>A (p.Thr1526Asn)
c.4328C>A (p.Thr1443Asn)
c.4250C>A (p.Thr1417Asn)
c.4226C>A (p.Thr1409Asn)
14g.74503481T>ACA390384988LTBP2c.4708A>T (p.Thr1570Ser)
c.4576A>T (p.Thr1526Ser)
c.4327A>T (p.Thr1443Ser)
c.4249A>T (p.Thr1417Ser)
c.4225A>T (p.Thr1409Ser)
14g.74503481T>CCA390384989LTBP2c.4708A>G (p.Thr1570Ala)
c.4576A>G (p.Thr1526Ala)
c.4327A>G (p.Thr1443Ala)
c.4249A>G (p.Thr1417Ala)
c.4225A>G (p.Thr1409Ala)
14g.74503481T>GCA390384990LTBP2c.4708A>C (p.Thr1570Pro)
c.4576A>C (p.Thr1526Pro)
c.4327A>C (p.Thr1443Pro)
c.4249A>C (p.Thr1417Pro)
c.4225A>C (p.Thr1409Pro)
14g.74503482G>ACA487267194LTBP2c.4707C>T (p.Ser1569=)
c.4575C>T (p.Ser1525=)
c.4326C>T (p.Ser1442=)
c.4248C>T (p.Ser1416=)
c.4224C>T (p.Ser1408=)
14g.74503482G>CCA390384991LTBP2c.4707C>G (p.Ser1569Arg)
c.4575C>G (p.Ser1525Arg)
c.4326C>G (p.Ser1442Arg)
c.4248C>G (p.Ser1416Arg)
c.4224C>G (p.Ser1408Arg)
14g.74503482G>TCA390384992LTBP2c.4707C>A (p.Ser1569Arg)
c.4575C>A (p.Ser1525Arg)
c.4326C>A (p.Ser1442Arg)
c.4248C>A (p.Ser1416Arg)
c.4224C>A (p.Ser1408Arg)
14g.74503483C>ACA390384993LTBP2c.4706G>T (p.Ser1569Ile)
c.4574G>T (p.Ser1525Ile)
c.4325G>T (p.Ser1442Ile)
c.4247G>T (p.Ser1416Ile)
c.4223G>T (p.Ser1408Ile)
14g.74503483C=CA2147075391LTBP2c.4706G= (p.Ser1569=)
c.4574G= (p.Ser1525=)
c.4325G= (p.Ser1442=)
c.4247G= (p.Ser1416=)
c.4223G= (p.Ser1408=)
14g.74503483C>GCA390384994LTBP2c.4706G>C (p.Ser1569Thr)
c.4574G>C (p.Ser1525Thr)
c.4325G>C (p.Ser1442Thr)
c.4247G>C (p.Ser1416Thr)
c.4223G>C (p.Ser1408Thr)
14g.74503483C>TCA7268674LTBP2c.4706G>A (p.Ser1569Asn)
c.4574G>A (p.Ser1525Asn)
c.4325G>A (p.Ser1442Asn)
c.4247G>A (p.Ser1416Asn)
c.4223G>A (p.Ser1408Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503484T>ACA390384997LTBP2c.4705A>T (p.Ser1569Cys)
c.4573A>T (p.Ser1525Cys)
c.4324A>T (p.Ser1442Cys)
c.4246A>T (p.Ser1416Cys)
c.4222A>T (p.Ser1408Cys)
14g.74503484T>CCA390384996LTBP2c.4705A>G (p.Ser1569Gly)
c.4573A>G (p.Ser1525Gly)
c.4324A>G (p.Ser1442Gly)
c.4246A>G (p.Ser1416Gly)
c.4222A>G (p.Ser1408Gly)
 gnomAD v4
14g.74503484T>GCA390384995LTBP2c.4705A>C (p.Ser1569Arg)
c.4573A>C (p.Ser1525Arg)
c.4324A>C (p.Ser1442Arg)
c.4246A>C (p.Ser1416Arg)
c.4222A>C (p.Ser1408Arg)
14g.74503485G>ACA487267198LTBP2c.4704C>T (p.Asn1568=)
c.4572C>T (p.Asn1524=)
c.4323C>T (p.Asn1441=)
c.4245C>T (p.Asn1415=)
c.4221C>T (p.Asn1407=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74503485G>CCA390384998LTBP2c.4704C>G (p.Asn1568Lys)
c.4572C>G (p.Asn1524Lys)
c.4323C>G (p.Asn1441Lys)
c.4245C>G (p.Asn1415Lys)
c.4221C>G (p.Asn1407Lys)
14g.74503485G=CA2147075393LTBP2c.4704C= (p.Asn1568=)
c.4572C= (p.Asn1524=)
c.4323C= (p.Asn1441=)
c.4245C= (p.Asn1415=)
c.4221C= (p.Asn1407=)
14g.74503485G>TCA390384999LTBP2c.4704C>A (p.Asn1568Lys)
c.4572C>A (p.Asn1524Lys)
c.4323C>A (p.Asn1441Lys)
c.4245C>A (p.Asn1415Lys)
c.4221C>A (p.Asn1407Lys)
14g.74503486T>ACA390385000LTBP2c.4703A>T (p.Asn1568Ile)
c.4571A>T (p.Asn1524Ile)
c.4322A>T (p.Asn1441Ile)
c.4244A>T (p.Asn1415Ile)
c.4220A>T (p.Asn1407Ile)
14g.74503486T>CCA390385001LTBP2c.4703A>G (p.Asn1568Ser)
c.4571A>G (p.Asn1524Ser)
c.4322A>G (p.Asn1441Ser)
c.4244A>G (p.Asn1415Ser)
c.4220A>G (p.Asn1407Ser)
14g.74503486T>GCA390385002LTBP2c.4703A>C (p.Asn1568Thr)
c.4571A>C (p.Asn1524Thr)
c.4322A>C (p.Asn1441Thr)
c.4244A>C (p.Asn1415Thr)
c.4220A>C (p.Asn1407Thr)
14g.74503487T>ACA390385005LTBP2c.4702A>T (p.Asn1568Tyr)
c.4570A>T (p.Asn1524Tyr)
c.4321A>T (p.Asn1441Tyr)
c.4243A>T (p.Asn1415Tyr)
c.4219A>T (p.Asn1407Tyr)
14g.74503487T>CCA390385004LTBP2c.4702A>G (p.Asn1568Asp)
c.4570A>G (p.Asn1524Asp)
c.4321A>G (p.Asn1441Asp)
c.4243A>G (p.Asn1415Asp)
c.4219A>G (p.Asn1407Asp)
 gnomAD v4
14g.74503487T>GCA390385003LTBP2c.4702A>C (p.Asn1568His)
c.4570A>C (p.Asn1524His)
c.4321A>C (p.Asn1441His)
c.4243A>C (p.Asn1415His)
c.4219A>C (p.Asn1407His)
14g.74503488C>ACA390385006LTBP2c.4701G>T (p.Met1567Ile)
c.4569G>T (p.Met1523Ile)
c.4320G>T (p.Met1440Ile)
c.4242G>T (p.Met1414Ile)
c.4218G>T (p.Met1406Ile)
14g.74503488C=CA2147075395LTBP2c.4701G= (p.Met1567=)
c.4569G= (p.Met1523=)
c.4320G= (p.Met1440=)
c.4242G= (p.Met1414=)
c.4218G= (p.Met1406=)
14g.74503488C>GCA390385007LTBP2c.4701G>C (p.Met1567Ile)
c.4569G>C (p.Met1523Ile)
c.4320G>C (p.Met1440Ile)
c.4242G>C (p.Met1414Ile)
c.4218G>C (p.Met1406Ile)
14g.74503488C>TCA390385008LTBP2c.4701G>A (p.Met1567Ile)
c.4569G>A (p.Met1523Ile)
c.4320G>A (p.Met1440Ile)
c.4242G>A (p.Met1414Ile)
c.4218G>A (p.Met1406Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503489A=CA2147075397LTBP2c.4700T= (p.Met1567=)
c.4568T= (p.Met1523=)
c.4319T= (p.Met1440=)
c.4241T= (p.Met1414=)
c.4217T= (p.Met1406=)
14g.74503489A>CCA390385009LTBP2c.4700T>G (p.Met1567Arg)
c.4568T>G (p.Met1523Arg)
c.4319T>G (p.Met1440Arg)
c.4241T>G (p.Met1414Arg)
c.4217T>G (p.Met1406Arg)
14g.74503489A>GCA390385010LTBP2c.4700T>C (p.Met1567Thr)
c.4568T>C (p.Met1523Thr)
c.4319T>C (p.Met1440Thr)
c.4241T>C (p.Met1414Thr)
c.4217T>C (p.Met1406Thr)
14g.74503489A>TCA390385011LTBP2c.4700T>A (p.Met1567Lys)
c.4568T>A (p.Met1523Lys)
c.4319T>A (p.Met1440Lys)
c.4241T>A (p.Met1414Lys)
c.4217T>A (p.Met1406Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.74503490T>ACA390385012LTBP2c.4699A>T (p.Met1567Leu)
c.4567A>T (p.Met1523Leu)
c.4318A>T (p.Met1440Leu)
c.4240A>T (p.Met1414Leu)
c.4216A>T (p.Met1406Leu)
14g.74503490T>CCA156258LTBP2c.4699A>G (p.Met1567Val)
c.4567A>G (p.Met1523Val)
c.4318A>G (p.Met1440Val)
c.4240A>G (p.Met1414Val)
c.4216A>G (p.Met1406Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503490T>GCA390385013LTBP2c.4699A>C (p.Met1567Leu)
c.4567A>C (p.Met1523Leu)
c.4318A>C (p.Met1440Leu)
c.4240A>C (p.Met1414Leu)
c.4216A>C (p.Met1406Leu)
14g.74503490T=CA2147075401LTBP2c.4699A= (p.Met1567=)
c.4567A= (p.Met1523=)
c.4318A= (p.Met1440=)
c.4240A= (p.Met1414=)
c.4216A= (p.Met1406=)
14g.74503491G>ACA487267206LTBP2c.4698C>T (p.Cys1566=)
c.4566C>T (p.Cys1522=)
c.4317C>T (p.Cys1439=)
c.4239C>T (p.Cys1413=)
c.4215C>T (p.Cys1405=)
 gnomAD v4
14g.74503491G>CCA390385014LTBP2c.4698C>G (p.Cys1566Trp)
c.4566C>G (p.Cys1522Trp)
c.4317C>G (p.Cys1439Trp)
c.4239C>G (p.Cys1413Trp)
c.4215C>G (p.Cys1405Trp)
14g.74503491G>TCA390385015LTBP2c.4698C>A (p.Cys1566Ter)
c.4566C>A (p.Cys1522Ter)
c.4317C>A (p.Cys1439Ter)
c.4239C>A (p.Cys1413Ter)
c.4215C>A (p.Cys1405Ter)
14g.74503492C>ACA390385016LTBP2c.4697G>T (p.Cys1566Phe)
c.4565G>T (p.Cys1522Phe)
c.4316G>T (p.Cys1439Phe)
c.4238G>T (p.Cys1413Phe)
c.4214G>T (p.Cys1405Phe)
14g.74503492C>GCA390385017LTBP2c.4697G>C (p.Cys1566Ser)
c.4565G>C (p.Cys1522Ser)
c.4316G>C (p.Cys1439Ser)
c.4238G>C (p.Cys1413Ser)
c.4214G>C (p.Cys1405Ser)
14g.74503492C>TCA390385018LTBP2c.4697G>A (p.Cys1566Tyr)
c.4565G>A (p.Cys1522Tyr)
c.4316G>A (p.Cys1439Tyr)
c.4238G>A (p.Cys1413Tyr)
c.4214G>A (p.Cys1405Tyr)
14g.74503493A=CA2147075403LTBP2c.4696T= (p.Cys1566=)
c.4564T= (p.Cys1522=)
c.4315T= (p.Cys1439=)
c.4237T= (p.Cys1413=)
c.4213T= (p.Cys1405=)
14g.74503493A>CCA390385019LTBP2c.4696T>G (p.Cys1566Gly)
c.4564T>G (p.Cys1522Gly)
c.4315T>G (p.Cys1439Gly)
c.4237T>G (p.Cys1413Gly)
c.4213T>G (p.Cys1405Gly)
14g.74503493A>GCA390385020LTBP2c.4696T>C (p.Cys1566Arg)
c.4564T>C (p.Cys1522Arg)
c.4315T>C (p.Cys1439Arg)
c.4237T>C (p.Cys1413Arg)
c.4213T>C (p.Cys1405Arg)
 gnomAD v4
14g.74503493A>TCA390385021LTBP2c.4696T>A (p.Cys1566Ser)
c.4564T>A (p.Cys1522Ser)
c.4315T>A (p.Cys1439Ser)
c.4237T>A (p.Cys1413Ser)
c.4213T>A (p.Cys1405Ser)
 dbSNP
14g.74503494G>ACA487267209LTBP2c.4695C>T (p.Arg1565=)
c.4563C>T (p.Arg1521=)
c.4314C>T (p.Arg1438=)
c.4236C>T (p.Arg1412=)
c.4212C>T (p.Arg1404=)
14g.74503494G>CCA487267210LTBP2c.4695C>G (p.Arg1565=)
c.4563C>G (p.Arg1521=)
c.4314C>G (p.Arg1438=)
c.4236C>G (p.Arg1412=)
c.4212C>G (p.Arg1404=)
14g.74503494G>TCA487267211LTBP2c.4695C>A (p.Arg1565=)
c.4563C>A (p.Arg1521=)
c.4314C>A (p.Arg1438=)
c.4236C>A (p.Arg1412=)
c.4212C>A (p.Arg1404=)
14g.74503495C>ACA390385022LTBP2c.4694G>T (p.Arg1565Leu)
c.4562G>T (p.Arg1521Leu)
c.4313G>T (p.Arg1438Leu)
c.4235G>T (p.Arg1412Leu)
c.4211G>T (p.Arg1404Leu)
 gnomAD v4
14g.74503495C=CA2147075405LTBP2c.4694G= (p.Arg1565=)
c.4562G= (p.Arg1521=)
c.4313G= (p.Arg1438=)
c.4235G= (p.Arg1412=)
c.4211G= (p.Arg1404=)
14g.74503495C>GCA390385023LTBP2c.4694G>C (p.Arg1565Pro)
c.4562G>C (p.Arg1521Pro)
c.4313G>C (p.Arg1438Pro)
c.4235G>C (p.Arg1412Pro)
c.4211G>C (p.Arg1404Pro)
 gnomAD v4
14g.74503495C>TCA7268675LTBP2c.4694G>A (p.Arg1565His)
c.4562G>A (p.Arg1521His)
c.4313G>A (p.Arg1438His)
c.4235G>A (p.Arg1412His)
c.4211G>A (p.Arg1404His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503496G>ACA7268676LTBP2c.4693C>T (p.Arg1565Cys)
c.4561C>T (p.Arg1521Cys)
c.4312C>T (p.Arg1438Cys)
c.4234C>T (p.Arg1412Cys)
c.4210C>T (p.Arg1404Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.74503496G>CCA390385025LTBP2c.4693C>G (p.Arg1565Gly)
c.4561C>G (p.Arg1521Gly)
c.4312C>G (p.Arg1438Gly)
c.4234C>G (p.Arg1412Gly)
c.4210C>G (p.Arg1404Gly)
14g.74503496G=CA2147075407LTBP2c.4693C= (p.Arg1565=)
c.4561C= (p.Arg1521=)
c.4312C= (p.Arg1438=)
c.4234C= (p.Arg1412=)
c.4210C= (p.Arg1404=)
14g.74503496G>TCA390385024LTBP2c.4693C>A (p.Arg1565Ser)
c.4561C>A (p.Arg1521Ser)
c.4312C>A (p.Arg1438Ser)
c.4234C>A (p.Arg1412Ser)
c.4210C>A (p.Arg1404Ser)
 gnomAD v4
14g.74503497C>ACA390385026LTBP2c.4692G>T (p.Gln1564His)
c.4560G>T (p.Gln1520His)
c.4311G>T (p.Gln1437His)
c.4233G>T (p.Gln1411His)
c.4209G>T (p.Gln1403His)
14g.74503497C=CA2147075409LTBP2c.4692G= (p.Gln1564=)
c.4560G= (p.Gln1520=)
c.4311G= (p.Gln1437=)
c.4233G= (p.Gln1411=)
c.4209G= (p.Gln1403=)
14g.74503497C>GCA390385027LTBP2c.4692G>C (p.Gln1564His)
c.4560G>C (p.Gln1520His)
c.4311G>C (p.Gln1437His)
c.4233G>C (p.Gln1411His)
c.4209G>C (p.Gln1403His)
14g.74503497C>TCA263579074LTBP2c.4692G>A (p.Gln1564=)
c.4560G>A (p.Gln1520=)
c.4311G>A (p.Gln1437=)
c.4233G>A (p.Gln1411=)
c.4209G>A (p.Gln1403=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503498T>ACA390385028LTBP2c.4691A>T (p.Gln1564Leu)
c.4559A>T (p.Gln1520Leu)
c.4310A>T (p.Gln1437Leu)
c.4232A>T (p.Gln1411Leu)
c.4208A>T (p.Gln1403Leu)
14g.74503498T>CCA390385029LTBP2c.4691A>G (p.Gln1564Arg)
c.4559A>G (p.Gln1520Arg)
c.4310A>G (p.Gln1437Arg)
c.4232A>G (p.Gln1411Arg)
c.4208A>G (p.Gln1403Arg)
 gnomAD v4
14g.74503498T>GCA390385030LTBP2c.4691A>C (p.Gln1564Pro)
c.4559A>C (p.Gln1520Pro)
c.4310A>C (p.Gln1437Pro)
c.4232A>C (p.Gln1411Pro)
c.4208A>C (p.Gln1403Pro)
 dbSNP
14g.74503498T=CA2147075411LTBP2c.4691A= (p.Gln1564=)
c.4559A= (p.Gln1520=)
c.4310A= (p.Gln1437=)
c.4232A= (p.Gln1411=)
c.4208A= (p.Gln1403=)
14g.74503499G>ACA390385031LTBP2c.4690C>T (p.Gln1564Ter)
c.4558C>T (p.Gln1520Ter)
c.4309C>T (p.Gln1437Ter)
c.4231C>T (p.Gln1411Ter)
c.4207C>T (p.Gln1403Ter)
 dbSNP gnomAD v2
14g.74503499G>CCA263579085LTBP2c.4690C>G (p.Gln1564Glu)
c.4558C>G (p.Gln1520Glu)
c.4309C>G (p.Gln1437Glu)
c.4231C>G (p.Gln1411Glu)
c.4207C>G (p.Gln1403Glu)
 dbSNP
14g.74503499G=CA2147075413LTBP2c.4690C= (p.Gln1564=)
c.4558C= (p.Gln1520=)
c.4309C= (p.Gln1437=)
c.4231C= (p.Gln1411=)
c.4207C= (p.Gln1403=)
14g.74503499G>TCA7268677LTBP2c.4690C>A (p.Gln1564Lys)
c.4558C>A (p.Gln1520Lys)
c.4309C>A (p.Gln1437Lys)
c.4231C>A (p.Gln1411Lys)
c.4207C>A (p.Gln1403Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503500C>ACA390385032LTBP2c.4689G>T (p.Gln1563His)
c.4557G>T (p.Gln1519His)
c.4308G>T (p.Gln1436His)
c.4230G>T (p.Gln1410His)
c.4206G>T (p.Gln1402His)
14g.74503500C>GCA390385033LTBP2c.4689G>C (p.Gln1563His)
c.4557G>C (p.Gln1519His)
c.4308G>C (p.Gln1436His)
c.4230G>C (p.Gln1410His)
c.4206G>C (p.Gln1402His)
14g.74503500C>TCA487267219LTBP2c.4689G>A (p.Gln1563=)
c.4557G>A (p.Gln1519=)
c.4308G>A (p.Gln1436=)
c.4230G>A (p.Gln1410=)
c.4206G>A (p.Gln1402=)
14g.74503501T>ACA390385034LTBP2c.4688A>T (p.Gln1563Leu)
c.4556A>T (p.Gln1519Leu)
c.4307A>T (p.Gln1436Leu)
c.4229A>T (p.Gln1410Leu)
c.4205A>T (p.Gln1402Leu)
14g.74503501T>CCA390385035LTBP2c.4688A>G (p.Gln1563Arg)
c.4556A>G (p.Gln1519Arg)
c.4307A>G (p.Gln1436Arg)
c.4229A>G (p.Gln1410Arg)
c.4205A>G (p.Gln1402Arg)
14g.74503501T>GCA390385036LTBP2c.4688A>C (p.Gln1563Pro)
c.4556A>C (p.Gln1519Pro)
c.4307A>C (p.Gln1436Pro)
c.4229A>C (p.Gln1410Pro)
c.4205A>C (p.Gln1402Pro)
14g.74503502G>ACA390385039LTBP2c.4687C>T (p.Gln1563Ter)
c.4555C>T (p.Gln1519Ter)
c.4306C>T (p.Gln1436Ter)
c.4228C>T (p.Gln1410Ter)
c.4204C>T (p.Gln1402Ter)
14g.74503502G>CCA390385037LTBP2c.4687C>G (p.Gln1563Glu)
c.4555C>G (p.Gln1519Glu)
c.4306C>G (p.Gln1436Glu)
c.4228C>G (p.Gln1410Glu)
c.4204C>G (p.Gln1402Glu)
14g.74503502G>TCA390385038LTBP2c.4687C>A (p.Gln1563Lys)
c.4555C>A (p.Gln1519Lys)
c.4306C>A (p.Gln1436Lys)
c.4228C>A (p.Gln1410Lys)
c.4204C>A (p.Gln1402Lys)
 gnomAD v4

Number of alleles fetched