Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.115418260T>CCA2688317733TRPS1c.2823+70A>G (n.2823+70A>G)
c.2784+70A>G (n.2784+70A>G)
c.157+70A>G
c.2046+70A>G (n.2046+70A>G)
c.2796+70A>G (n.2796+70A>G)
c.2802+70A>G (n.2802+70A>G)
 gnomAD v4
8g.115418261delCA2688317732TRPS1c.2823+70del (n.2823+70del)
c.2784+70del (n.2784+70del)
c.157+70del
c.2046+70del (n.2046+70del)
c.2796+70del (n.2796+70del)
c.2802+70del (n.2802+70del)
 gnomAD v4
8g.115418262A=CA1812857303TRPS1c.2823+68T= (n.2823+68T=)
c.2784+68T= (n.2784+68T=)
c.157+68T=
c.2046+68T= (n.2046+68T=)
c.2796+68T= (n.2796+68T=)
c.2802+68T= (n.2802+68T=)
8g.115418262A>GCA184471277TRPS1c.2823+68T>C (n.2823+68T>C)
c.2784+68T>C (n.2784+68T>C)
c.157+68T>C
c.2046+68T>C (n.2046+68T>C)
c.2796+68T>C (n.2796+68T>C)
c.2802+68T>C (n.2802+68T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115418263T>CCA184471279TRPS1c.2823+67A>G (n.2823+67A>G)
c.2784+67A>G (n.2784+67A>G)
c.157+67A>G
c.2046+67A>G (n.2046+67A>G)
c.2796+67A>G (n.2796+67A>G)
c.2802+67A>G (n.2802+67A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.115418263T=CA1812857305TRPS1c.2823+67A= (n.2823+67A=)
c.2784+67A= (n.2784+67A=)
c.157+67A=
c.2046+67A= (n.2046+67A=)
c.2796+67A= (n.2796+67A=)
c.2802+67A= (n.2802+67A=)
8g.115418264C>GCA2688317734TRPS1c.2823+66G>C (n.2823+66G>C)
c.2784+66G>C (n.2784+66G>C)
c.157+66G>C
c.2046+66G>C (n.2046+66G>C)
c.2796+66G>C (n.2796+66G>C)
c.2802+66G>C (n.2802+66G>C)
 gnomAD v4
8g.115418264C>TCA2688317735TRPS1c.2823+66G>A (n.2823+66G>A)
c.2784+66G>A (n.2784+66G>A)
c.157+66G>A
c.2046+66G>A (n.2046+66G>A)
c.2796+66G>A (n.2796+66G>A)
c.2802+66G>A (n.2802+66G>A)
 gnomAD v4
8g.115418267A>GCA2579233404TRPS1c.2823+63T>C (n.2823+63T>C)
c.2784+63T>C (n.2784+63T>C)
c.157+63T>C
c.2046+63T>C (n.2046+63T>C)
c.2796+63T>C (n.2796+63T>C)
c.2802+63T>C (n.2802+63T>C)
 gnomAD v4
8g.115418269C>TCA2838278068TRPS1c.2823+61G>A (n.2823+61G>A)
c.2784+61G>A (n.2784+61G>A)
c.157+61G>A
c.2046+61G>A (n.2046+61G>A)
c.2796+61G>A (n.2796+61G>A)
c.2802+61G>A (n.2802+61G>A)
8g.115418270A>GCA2688317736TRPS1c.2823+60T>C (n.2823+60T>C)
c.2784+60T>C (n.2784+60T>C)
c.157+60T>C
c.2046+60T>C (n.2046+60T>C)
c.2796+60T>C (n.2796+60T>C)
c.2802+60T>C (n.2802+60T>C)
 gnomAD v4
8g.115418271C=CA1812857306TRPS1c.2823+59G= (n.2823+59G=)
c.2784+59G= (n.2784+59G=)
c.157+59G=
c.2046+59G= (n.2046+59G=)
c.2796+59G= (n.2796+59G=)
c.2802+59G= (n.2802+59G=)
8g.115418271C>TCA1812857308TRPS1c.2823+59G>A (n.2823+59G>A)
c.2784+59G>A (n.2784+59G>A)
c.157+59G>A
c.2046+59G>A (n.2046+59G>A)
c.2796+59G>A (n.2796+59G>A)
c.2802+59G>A (n.2802+59G>A)
 dbSNP gnomAD v4
8g.115418272A>GCA2688317737TRPS1c.2823+58T>C (n.2823+58T>C)
c.2784+58T>C (n.2784+58T>C)
c.157+58T>C
c.2046+58T>C (n.2046+58T>C)
c.2796+58T>C (n.2796+58T>C)
c.2802+58T>C (n.2802+58T>C)
 gnomAD v4
8g.115418273G>TCA2579233405TRPS1c.2823+57C>A (n.2823+57C>A)
c.2784+57C>A (n.2784+57C>A)
c.157+57C>A
c.2046+57C>A (n.2046+57C>A)
c.2796+57C>A (n.2796+57C>A)
c.2802+57C>A (n.2802+57C>A)
 gnomAD v4
8g.115418275C>ACA184471282TRPS1c.2823+55G>T (n.2823+55G>T)
c.2784+55G>T (n.2784+55G>T)
c.157+55G>T
c.2046+55G>T (n.2046+55G>T)
c.2796+55G>T (n.2796+55G>T)
c.2802+55G>T (n.2802+55G>T)
 dbSNP gnomAD v4
8g.115418275C=CA1812857310TRPS1c.2823+55G= (n.2823+55G=)
c.2784+55G= (n.2784+55G=)
c.157+55G=
c.2046+55G= (n.2046+55G=)
c.2796+55G= (n.2796+55G=)
c.2802+55G= (n.2802+55G=)
8g.115418275C>GCA2579233406TRPS1c.2823+55G>C (n.2823+55G>C)
c.2784+55G>C (n.2784+55G>C)
c.157+55G>C
c.2046+55G>C (n.2046+55G>C)
c.2796+55G>C (n.2796+55G>C)
c.2802+55G>C (n.2802+55G>C)
 gnomAD v4
8g.115418276C>ACA2688317738TRPS1c.2823+54G>T (n.2823+54G>T)
c.2784+54G>T (n.2784+54G>T)
c.157+54G>T
c.2046+54G>T (n.2046+54G>T)
c.2796+54G>T (n.2796+54G>T)
c.2802+54G>T (n.2802+54G>T)
 gnomAD v4
8g.115418279G>ACA2688317739TRPS1c.2823+51C>T (n.2823+51C>T)
c.2784+51C>T (n.2784+51C>T)
c.157+51C>T
c.2046+51C>T (n.2046+51C>T)
c.2796+51C>T (n.2796+51C>T)
c.2802+51C>T (n.2802+51C>T)
 dbSNP gnomAD v4
8g.115418280C=CA1812857312TRPS1c.2823+50G= (n.2823+50G=)
c.2784+50G= (n.2784+50G=)
c.157+50G=
c.2046+50G= (n.2046+50G=)
c.2796+50G= (n.2796+50G=)
c.2802+50G= (n.2802+50G=)
8g.115418280C>TCA4851565TRPS1c.2823+50G>A (n.2823+50G>A)
c.2784+50G>A (n.2784+50G>A)
c.157+50G>A
c.2046+50G>A (n.2046+50G>A)
c.2796+50G>A (n.2796+50G>A)
c.2802+50G>A (n.2802+50G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115418281_115418286delCA2579233407TRPS1c.2823+45_2823+50del (n.2823+45_2823+50del)
c.2784+45_2784+50del (n.2784+45_2784+50del)
c.157+45_157+50del
c.2046+45_2046+50del (n.2046+45_2046+50del)
c.2796+45_2796+50del (n.2796+45_2796+50del)
c.2802+45_2802+50del (n.2802+45_2802+50del)
8g.115418282A>CCA2579233408TRPS1c.2823+48T>G (n.2823+48T>G)
c.2784+48T>G (n.2784+48T>G)
c.157+48T>G
c.2046+48T>G (n.2046+48T>G)
c.2796+48T>G (n.2796+48T>G)
c.2802+48T>G (n.2802+48T>G)
 gnomAD v4
8g.115418283A=CA1812857314TRPS1c.2823+47T= (n.2823+47T=)
c.2784+47T= (n.2784+47T=)
c.157+47T=
c.2046+47T= (n.2046+47T=)
c.2796+47T= (n.2796+47T=)
c.2802+47T= (n.2802+47T=)
8g.115418283A>GCA584658948TRPS1c.2823+47T>C (n.2823+47T>C)
c.2784+47T>C (n.2784+47T>C)
c.157+47T>C
c.2046+47T>C (n.2046+47T>C)
c.2796+47T>C (n.2796+47T>C)
c.2802+47T>C (n.2802+47T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.115418286C>ACA184471293TRPS1c.2823+44G>T (n.2823+44G>T)
c.2784+44G>T (n.2784+44G>T)
c.157+44G>T
c.2046+44G>T (n.2046+44G>T)
c.2796+44G>T (n.2796+44G>T)
c.2802+44G>T (n.2802+44G>T)
 dbSNP gnomAD v4
8g.115418286C=CA1812857316TRPS1c.2823+44G= (n.2823+44G=)
c.2784+44G= (n.2784+44G=)
c.157+44G=
c.2046+44G= (n.2046+44G=)
c.2796+44G= (n.2796+44G=)
c.2802+44G= (n.2802+44G=)
8g.115418286C>TCA4851566TRPS1c.2823+44G>A (n.2823+44G>A)
c.2784+44G>A (n.2784+44G>A)
c.157+44G>A
c.2046+44G>A (n.2046+44G>A)
c.2796+44G>A (n.2796+44G>A)
c.2802+44G>A (n.2802+44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115418287T>ACA2688317740TRPS1c.2823+43A>T (n.2823+43A>T)
c.2784+43A>T (n.2784+43A>T)
c.157+43A>T
c.2046+43A>T (n.2046+43A>T)
c.2796+43A>T (n.2796+43A>T)
c.2802+43A>T (n.2802+43A>T)
 gnomAD v4
8g.115418287T>CCA2688317741TRPS1c.2823+43A>G (n.2823+43A>G)
c.2784+43A>G (n.2784+43A>G)
c.157+43A>G
c.2046+43A>G (n.2046+43A>G)
c.2796+43A>G (n.2796+43A>G)
c.2802+43A>G (n.2802+43A>G)
 gnomAD v4
8g.115418288G>ACA2688317742TRPS1c.2823+42C>T (n.2823+42C>T)
c.2784+42C>T (n.2784+42C>T)
c.157+42C>T
c.2046+42C>T (n.2046+42C>T)
c.2796+42C>T (n.2796+42C>T)
c.2802+42C>T (n.2802+42C>T)
 gnomAD v4
8g.115418289C>ACA584658955TRPS1c.2823+41G>T (n.2823+41G>T)
c.2784+41G>T (n.2784+41G>T)
c.157+41G>T
c.2046+41G>T (n.2046+41G>T)
c.2796+41G>T (n.2796+41G>T)
c.2802+41G>T (n.2802+41G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.115418289C=CA1812857320TRPS1c.2823+41G= (n.2823+41G=)
c.2784+41G= (n.2784+41G=)
c.157+41G=
c.2046+41G= (n.2046+41G=)
c.2796+41G= (n.2796+41G=)
c.2802+41G= (n.2802+41G=)
8g.115418289C>TCA2688317743TRPS1c.2823+41G>A (n.2823+41G>A)
c.2784+41G>A (n.2784+41G>A)
c.157+41G>A
c.2046+41G>A (n.2046+41G>A)
c.2796+41G>A (n.2796+41G>A)
c.2802+41G>A (n.2802+41G>A)
 gnomAD v4
8g.115418290T>CCA584658958TRPS1c.2823+40A>G (n.2823+40A>G)
c.2784+40A>G (n.2784+40A>G)
c.157+40A>G
c.2046+40A>G (n.2046+40A>G)
c.2796+40A>G (n.2796+40A>G)
c.2802+40A>G (n.2802+40A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.115418290T=CA1812857322TRPS1c.2823+40A= (n.2823+40A=)
c.2784+40A= (n.2784+40A=)
c.157+40A=
c.2046+40A= (n.2046+40A=)
c.2796+40A= (n.2796+40A=)
c.2802+40A= (n.2802+40A=)
8g.115418291T>CCA2688317744TRPS1c.2823+39A>G (n.2823+39A>G)
c.2784+39A>G (n.2784+39A>G)
c.157+39A>G
c.2046+39A>G (n.2046+39A>G)
c.2796+39A>G (n.2796+39A>G)
c.2802+39A>G (n.2802+39A>G)
 gnomAD v4
8g.115418293_115418294delinsATCA1812857323TRPS1c.2823+36_2823+37delinsAT (n.2823+36_2823+37delinsAT)
c.2784+36_2784+37delinsAT (n.2784+36_2784+37delinsAT)
c.157+36_157+37delinsAT
c.2046+36_2046+37delinsAT (n.2046+36_2046+37delinsAT)
c.2796+36_2796+37delinsAT (n.2796+36_2796+37delinsAT)
c.2802+36_2802+37delinsAT (n.2802+36_2802+37delinsAT)
8g.115418294delCA4851567TRPS1c.2823+36del (n.2823+36del)
c.2784+36del (n.2784+36del)
c.157+36del
c.2046+36del (n.2046+36del)
c.2796+36del (n.2796+36del)
c.2802+36del (n.2802+36del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418295A>TCA2688317745TRPS1c.2823+35T>A (n.2823+35T>A)
c.2784+35T>A (n.2784+35T>A)
c.157+35T>A
c.2046+35T>A (n.2046+35T>A)
c.2796+35T>A (n.2796+35T>A)
c.2802+35T>A (n.2802+35T>A)
 gnomAD v4
8g.115418297delCA372064157TRPS1c.2823+35del (n.2823+35del)
c.2784+35del (n.2784+35del)
c.157+35del
c.2046+35del (n.2046+35del)
c.2796+35del (n.2796+35del)
c.2802+35del (n.2802+35del)
8g.115418297A=CA1812857325TRPS1c.2823+33T= (n.2823+33T=)
c.2784+33T= (n.2784+33T=)
c.157+33T=
c.2046+33T= (n.2046+33T=)
c.2796+33T= (n.2796+33T=)
c.2802+33T= (n.2802+33T=)
8g.115418297A>CCA2688317746TRPS1c.2823+33T>G (n.2823+33T>G)
c.2784+33T>G (n.2784+33T>G)
c.157+33T>G
c.2046+33T>G (n.2046+33T>G)
c.2796+33T>G (n.2796+33T>G)
c.2802+33T>G (n.2802+33T>G)
 gnomAD v4
8g.115418297A>GCA4851569TRPS1c.2823+33T>C (n.2823+33T>C)
c.2784+33T>C (n.2784+33T>C)
c.157+33T>C
c.2046+33T>C (n.2046+33T>C)
c.2796+33T>C (n.2796+33T>C)
c.2802+33T>C (n.2802+33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418297A>TCA4851568TRPS1c.2823+33T>A (n.2823+33T>A)
c.2784+33T>A (n.2784+33T>A)
c.157+33T>A
c.2046+33T>A (n.2046+33T>A)
c.2796+33T>A (n.2796+33T>A)
c.2802+33T>A (n.2802+33T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418299C=CA1812857327TRPS1c.2823+31G= (n.2823+31G=)
c.2784+31G= (n.2784+31G=)
c.157+31G=
c.2046+31G= (n.2046+31G=)
c.2796+31G= (n.2796+31G=)
c.2802+31G= (n.2802+31G=)
8g.115418299C>TCA846017078TRPS1c.2823+31G>A (n.2823+31G>A)
c.2784+31G>A (n.2784+31G>A)
c.157+31G>A
c.2046+31G>A (n.2046+31G>A)
c.2796+31G>A (n.2796+31G>A)
c.2802+31G>A (n.2802+31G>A)
 dbSNP gnomAD v4
8g.115418301T>CCA2781846678TRPS1c.2823+29A>G (n.2823+29A>G)
c.2784+29A>G (n.2784+29A>G)
c.157+29A>G
c.2046+29A>G (n.2046+29A>G)
c.2796+29A>G (n.2796+29A>G)
c.2802+29A>G (n.2802+29A>G)
8g.115418303T>CCA184471303TRPS1c.2823+27A>G (n.2823+27A>G)
c.2784+27A>G (n.2784+27A>G)
c.157+27A>G
c.2046+27A>G (n.2046+27A>G)
c.2796+27A>G (n.2796+27A>G)
c.2802+27A>G (n.2802+27A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.115418303T=CA1812857330TRPS1c.2823+27A= (n.2823+27A=)
c.2784+27A= (n.2784+27A=)
c.157+27A=
c.2046+27A= (n.2046+27A=)
c.2796+27A= (n.2796+27A=)
c.2802+27A= (n.2802+27A=)
8g.115418304C>ACA4851570TRPS1c.2823+26G>T (n.2823+26G>T)
c.2784+26G>T (n.2784+26G>T)
c.157+26G>T
c.2046+26G>T (n.2046+26G>T)
c.2796+26G>T (n.2796+26G>T)
c.2802+26G>T (n.2802+26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418304C=CA1812857333TRPS1c.2823+26G= (n.2823+26G=)
c.2784+26G= (n.2784+26G=)
c.157+26G=
c.2046+26G= (n.2046+26G=)
c.2796+26G= (n.2796+26G=)
c.2802+26G= (n.2802+26G=)
8g.115418304C>GCA2688317747TRPS1c.2823+26G>C (n.2823+26G>C)
c.2784+26G>C (n.2784+26G>C)
c.157+26G>C
c.2046+26G>C (n.2046+26G>C)
c.2796+26G>C (n.2796+26G>C)
c.2802+26G>C (n.2802+26G>C)
 gnomAD v4
8g.115418304C>TCA2688317748TRPS1c.2823+26G>A (n.2823+26G>A)
c.2784+26G>A (n.2784+26G>A)
c.157+26G>A
c.2046+26G>A (n.2046+26G>A)
c.2796+26G>A (n.2796+26G>A)
c.2802+26G>A (n.2802+26G>A)
 gnomAD v4
8g.115418305C=CA1812857335TRPS1c.2823+25G= (n.2823+25G=)
c.2784+25G= (n.2784+25G=)
c.157+25G=
c.2046+25G= (n.2046+25G=)
c.2796+25G= (n.2796+25G=)
c.2802+25G= (n.2802+25G=)
8g.115418305C>GCA584658969TRPS1c.2823+25G>C (n.2823+25G>C)
c.2784+25G>C (n.2784+25G>C)
c.157+25G>C
c.2046+25G>C (n.2046+25G>C)
c.2796+25G>C (n.2796+25G>C)
c.2802+25G>C (n.2802+25G>C)
 dbSNP gnomAD v2 gnomAD v4
8g.115418307G>CCA2688317749TRPS1c.2823+23C>G (n.2823+23C>G)
c.2784+23C>G (n.2784+23C>G)
c.157+23C>G
c.2046+23C>G (n.2046+23C>G)
c.2796+23C>G (n.2796+23C>G)
c.2802+23C>G (n.2802+23C>G)
 gnomAD v4
8g.115418308A>GCA2688317750TRPS1c.2823+22T>C (n.2823+22T>C)
c.2784+22T>C (n.2784+22T>C)
c.157+22T>C
c.2046+22T>C (n.2046+22T>C)
c.2796+22T>C (n.2796+22T>C)
c.2802+22T>C (n.2802+22T>C)
 gnomAD v4
8g.115418309A=CA1812857337TRPS1c.2823+21T= (n.2823+21T=)
c.2784+21T= (n.2784+21T=)
c.157+21T=
c.2046+21T= (n.2046+21T=)
c.2796+21T= (n.2796+21T=)
c.2802+21T= (n.2802+21T=)
8g.115418309A>TCA4851571TRPS1c.2823+21T>A (n.2823+21T>A)
c.2784+21T>A (n.2784+21T>A)
c.157+21T>A
c.2046+21T>A (n.2046+21T>A)
c.2796+21T>A (n.2796+21T>A)
c.2802+21T>A (n.2802+21T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418311delCA2573142809TRPS1c.2823+19del (n.2823+19del)
c.2784+19del (n.2784+19del)
c.157+19del
c.2046+19del (n.2046+19del)
c.2796+19del (n.2796+19del)
c.2802+19del (n.2802+19del)
 ClinVar dbSNP
8g.115418311G>CCA2579233409TRPS1c.2823+19C>G (n.2823+19C>G)
c.2784+19C>G (n.2784+19C>G)
c.157+19C>G
c.2046+19C>G (n.2046+19C>G)
c.2796+19C>G (n.2796+19C>G)
c.2802+19C>G (n.2802+19C>G)
8g.115418313G>ACA2688317751TRPS1c.2823+17C>T (n.2823+17C>T)
c.2784+17C>T (n.2784+17C>T)
c.157+17C>T
c.2046+17C>T (n.2046+17C>T)
c.2796+17C>T (n.2796+17C>T)
c.2802+17C>T (n.2802+17C>T)
 dbSNP gnomAD v4
8g.115418313G>CCA1812857340TRPS1c.2823+17C>G (n.2823+17C>G)
c.2784+17C>G (n.2784+17C>G)
c.157+17C>G
c.2046+17C>G (n.2046+17C>G)
c.2796+17C>G (n.2796+17C>G)
c.2802+17C>G (n.2802+17C>G)
 dbSNP gnomAD v4
8g.115418313G=CA1812857338TRPS1c.2823+17C= (n.2823+17C=)
c.2784+17C= (n.2784+17C=)
c.157+17C=
c.2046+17C= (n.2046+17C=)
c.2796+17C= (n.2796+17C=)
c.2802+17C= (n.2802+17C=)
8g.115418315G>ACA4851573TRPS1c.2823+15C>T (n.2823+15C>T)
c.2784+15C>T (n.2784+15C>T)
c.157+15C>T
c.2046+15C>T (n.2046+15C>T)
c.2796+15C>T (n.2796+15C>T)
c.2802+15C>T (n.2802+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.115418315G>CCA1812857347TRPS1c.2823+15C>G (n.2823+15C>G)
c.2784+15C>G (n.2784+15C>G)
c.157+15C>G
c.2046+15C>G (n.2046+15C>G)
c.2796+15C>G (n.2796+15C>G)
c.2802+15C>G (n.2802+15C>G)
 dbSNP
8g.115418315G=CA1812857345TRPS1c.2823+15C= (n.2823+15C=)
c.2784+15C= (n.2784+15C=)
c.157+15C=
c.2046+15C= (n.2046+15C=)
c.2796+15C= (n.2796+15C=)
c.2802+15C= (n.2802+15C=)
8g.115418315G>TCA4851572TRPS1c.2823+15C>A (n.2823+15C>A)
c.2784+15C>A (n.2784+15C>A)
c.157+15C>A
c.2046+15C>A (n.2046+15C>A)
c.2796+15C>A (n.2796+15C>A)
c.2802+15C>A (n.2802+15C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.115418316G>ACA2688317752TRPS1c.2823+14C>T (n.2823+14C>T)
c.2784+14C>T (n.2784+14C>T)
c.157+14C>T
c.2046+14C>T (n.2046+14C>T)
c.2796+14C>T (n.2796+14C>T)
c.2802+14C>T (n.2802+14C>T)
 gnomAD v4
8g.115418316G>TCA2579233410TRPS1c.2823+14C>A (n.2823+14C>A)
c.2784+14C>A (n.2784+14C>A)
c.157+14C>A
c.2046+14C>A (n.2046+14C>A)
c.2796+14C>A (n.2796+14C>A)
c.2802+14C>A (n.2802+14C>A)
8g.115418317A>GCA2688317754TRPS1c.2823+13T>C (n.2823+13T>C)
c.2784+13T>C (n.2784+13T>C)
c.157+13T>C
c.2046+13T>C (n.2046+13T>C)
c.2796+13T>C (n.2796+13T>C)
c.2802+13T>C (n.2802+13T>C)
 gnomAD v4
8g.115418317A>TCA2688317753TRPS1c.2823+13T>A (n.2823+13T>A)
c.2784+13T>A (n.2784+13T>A)
c.157+13T>A
c.2046+13T>A (n.2046+13T>A)
c.2796+13T>A (n.2796+13T>A)
c.2802+13T>A (n.2802+13T>A)
 gnomAD v4
8g.115418319_115418321delCA2688317755TRPS1c.2823+11_2823+13del (n.2823+11_2823+13del)
c.2784+11_2784+13del (n.2784+11_2784+13del)
c.157+11_157+13del
c.2046+11_2046+13del (n.2046+11_2046+13del)
c.2796+11_2796+13del (n.2796+11_2796+13del)
c.2802+11_2802+13del (n.2802+11_2802+13del)
 gnomAD v4
8g.115418319_115418320delCA2688317756TRPS1c.2823+11_2823+12del (n.2823+11_2823+12del)
c.2784+11_2784+12del (n.2784+11_2784+12del)
c.157+11_157+12del
c.2046+11_2046+12del (n.2046+11_2046+12del)
c.2796+11_2796+12del (n.2796+11_2796+12del)
c.2802+11_2802+12del (n.2802+11_2802+12del)
 gnomAD v4
8g.115418323T>CCA584658984TRPS1c.2823+7A>G (n.2823+7A>G)
c.2784+7A>G (n.2784+7A>G)
c.157+7A>G
c.2046+7A>G (n.2046+7A>G)
c.2796+7A>G (n.2796+7A>G)
c.2802+7A>G (n.2802+7A>G)
 dbSNP gnomAD v2
8g.115418323T>GCA2688317757TRPS1c.2823+7A>C (n.2823+7A>C)
c.2784+7A>C (n.2784+7A>C)
c.157+7A>C
c.2046+7A>C (n.2046+7A>C)
c.2796+7A>C (n.2796+7A>C)
c.2802+7A>C (n.2802+7A>C)
 gnomAD v4
8g.115418323T=CA1812857351TRPS1c.2823+7A= (n.2823+7A=)
c.2784+7A= (n.2784+7A=)
c.157+7A=
c.2046+7A= (n.2046+7A=)
c.2796+7A= (n.2796+7A=)
c.2802+7A= (n.2802+7A=)
8g.115418325C=CA1812857352TRPS1c.2823+5G= (n.2823+5G=)
c.2784+5G= (n.2784+5G=)
c.157+5G=
c.2046+5G= (n.2046+5G=)
c.2796+5G= (n.2796+5G=)
c.2802+5G= (n.2802+5G=)
8g.115418325C>TCA1812857353TRPS1c.2823+5G>A (n.2823+5G>A)
c.2784+5G>A (n.2784+5G>A)
c.157+5G>A
c.2046+5G>A (n.2046+5G>A)
c.2796+5G>A (n.2796+5G>A)
c.2802+5G>A (n.2802+5G>A)
 dbSNP gnomAD v4
8g.115418326T>GCA584658986TRPS1c.2823+4A>C (n.2823+4A>C)
c.2784+4A>C (n.2784+4A>C)
c.157+4A>C
c.2046+4A>C (n.2046+4A>C)
c.2796+4A>C (n.2796+4A>C)
c.2802+4A>C (n.2802+4A>C)
 dbSNP gnomAD v2 gnomAD v4
8g.115418326T=CA1812857354TRPS1c.2823+4A= (n.2823+4A=)
c.2784+4A= (n.2784+4A=)
c.157+4A=
c.2046+4A= (n.2046+4A=)
c.2796+4A= (n.2796+4A=)
c.2802+4A= (n.2802+4A=)
8g.115418327T>CCA584658988TRPS1c.2823+3A>G (n.2823+3A>G)
c.2784+3A>G (n.2784+3A>G)
c.157+3A>G
c.2046+3A>G (n.2046+3A>G)
c.2796+3A>G (n.2796+3A>G)
c.2802+3A>G (n.2802+3A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.115418327T=CA1812857356TRPS1c.2823+3A= (n.2823+3A=)
c.2784+3A= (n.2784+3A=)
c.157+3A=
c.2046+3A= (n.2046+3A=)
c.2796+3A= (n.2796+3A=)
c.2802+3A= (n.2802+3A=)
8g.115418328A>CCA372064158TRPS1c.2823+2T>G (n.2823+2T>G)
c.2784+2T>G (n.2784+2T>G)
c.157+2T>G
c.2046+2T>G (n.2046+2T>G)
c.2796+2T>G (n.2796+2T>G)
c.2802+2T>G (n.2802+2T>G)
8g.115418328A>GCA372064160TRPS1c.2823+2T>C (n.2823+2T>C)
c.2784+2T>C (n.2784+2T>C)
c.157+2T>C
c.2046+2T>C (n.2046+2T>C)
c.2796+2T>C (n.2796+2T>C)
c.2802+2T>C (n.2802+2T>C)
8g.115418328A>TCA372064159TRPS1c.2823+2T>A (n.2823+2T>A)
c.2784+2T>A (n.2784+2T>A)
c.157+2T>A
c.2046+2T>A (n.2046+2T>A)
c.2796+2T>A (n.2796+2T>A)
c.2802+2T>A (n.2802+2T>A)
8g.115418329C>ACA372064161TRPS1c.2823+1G>T (n.2823+1G>T)
c.2784+1G>T (n.2784+1G>T)
c.157+1G>T
c.2046+1G>T (n.2046+1G>T)
c.2796+1G>T (n.2796+1G>T)
c.2802+1G>T (n.2802+1G>T)
 ClinVar dbSNP
8g.115418329C=CA1812857362TRPS1c.2823+1G= (n.2823+1G=)
c.2784+1G= (n.2784+1G=)
c.157+1G=
c.2046+1G= (n.2046+1G=)
c.2796+1G= (n.2796+1G=)
c.2802+1G= (n.2802+1G=)
8g.115418329C>GCA372064163TRPS1c.2823+1G>C (n.2823+1G>C)
c.2784+1G>C (n.2784+1G>C)
c.157+1G>C
c.2046+1G>C (n.2046+1G>C)
c.2796+1G>C (n.2796+1G>C)
c.2802+1G>C (n.2802+1G>C)
8g.115418329C>TCA372064162TRPS1c.2823+1G>A (n.2823+1G>A)
c.2784+1G>A (n.2784+1G>A)
c.157+1G>A
c.2046+1G>A (n.2046+1G>A)
c.2796+1G>A (n.2796+1G>A)
c.2802+1G>A (n.2802+1G>A)
 COSMIC
8g.115418330C>ACA462631391TRPS1c.2823G>T (p.Ser941=)
c.2784G>T (p.Ser928=)
c.157G>T
c.2046G>T (p.Ser682=)
c.2796G>T (p.Ser932=)
c.2802G>T (p.Ser934=)
 dbSNP gnomAD v4
8g.115418330C=CA1812857368TRPS1c.2823G= (p.Ser941=)
c.2784G= (p.Ser928=)
c.157G=
c.2046G= (p.Ser682=)
c.2796G= (p.Ser932=)
c.2802G= (p.Ser934=)
8g.115418330C>GCA462631392TRPS1c.2823G>C (p.Ser941=)
c.2784G>C (p.Ser928=)
c.157G>C
c.2046G>C (p.Ser682=)
c.2796G>C (p.Ser932=)
c.2802G>C (p.Ser934=)
8g.115418330C>TCA4851574TRPS1c.2823G>A (p.Ser941=)
c.2784G>A (p.Ser928=)
c.157G>A
c.2046G>A (p.Ser682=)
c.2796G>A (p.Ser932=)
c.2802G>A (p.Ser934=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418331G>ACA4851575TRPS1c.2822C>T (p.Ser941Leu)
c.2783C>T (p.Ser928Leu)
c.156C>T
c.2045C>T (p.Ser682Leu)
c.2795C>T (p.Ser932Leu)
c.2801C>T (p.Ser934Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418331G>CCA372064164TRPS1c.2822C>G (p.Ser941Trp)
c.2783C>G (p.Ser928Trp)
c.156C>G
c.2045C>G (p.Ser682Trp)
c.2795C>G (p.Ser932Trp)
c.2801C>G (p.Ser934Trp)
8g.115418331G=CA1812857378TRPS1c.2822C= (p.Ser941=)
c.2783C= (p.Ser928=)
c.156C=
c.2045C= (p.Ser682=)
c.2795C= (p.Ser932=)
c.2801C= (p.Ser934=)
8g.115418331G>TCA10603082TRPS1c.2822C>A (p.Ser941Ter)
c.2783C>A (p.Ser928Ter)
c.156C>A
c.2045C>A (p.Ser682Ter)
c.2795C>A (p.Ser932Ter)
c.2801C>A (p.Ser934Ter)
 ClinVar dbSNP
8g.115418333_115418336delCA2837995167TRPS1c.2819_2822del (p.His940ArgfsTer6)
c.2780_2783del (p.His927ArgfsTer6)
c.153_156del
c.2042_2045del (p.His681ArgfsTer6)
c.2792_2795del (p.His931ArgfsTer6)
c.2798_2801del (p.His933ArgfsTer6)
8g.115418332A>CCA372064165TRPS1c.2821T>G (p.Ser941Ala)
c.2782T>G (p.Ser928Ala)
c.155T>G
c.2044T>G (p.Ser682Ala)
c.2794T>G (p.Ser932Ala)
c.2800T>G (p.Ser934Ala)
8g.115418332A>GCA372064166TRPS1c.2821T>C (p.Ser941Pro)
c.2782T>C (p.Ser928Pro)
c.155T>C
c.2044T>C (p.Ser682Pro)
c.2794T>C (p.Ser932Pro)
c.2800T>C (p.Ser934Pro)
8g.115418332A>TCA372064167TRPS1c.2821T>A (p.Ser941Thr)
c.2782T>A (p.Ser928Thr)
c.155T>A
c.2044T>A (p.Ser682Thr)
c.2794T>A (p.Ser932Thr)
c.2800T>A (p.Ser934Thr)
 COSMIC COSMIC
8g.115418333G>ACA184471325TRPS1c.2820C>T (p.His940=)
c.2781C>T (p.His927=)
c.154C>T
c.2043C>T (p.His681=)
c.2793C>T (p.His931=)
c.2799C>T (p.His933=)
 dbSNP gnomAD v4
8g.115418333G>CCA372064168TRPS1c.2820C>G (p.His940Gln)
c.2781C>G (p.His927Gln)
c.154C>G
c.2043C>G (p.His681Gln)
c.2793C>G (p.His931Gln)
c.2799C>G (p.His933Gln)
8g.115418333G=CA1812857382TRPS1c.2820C= (p.His940=)
c.2781C= (p.His927=)
c.154C=
c.2043C= (p.His681=)
c.2793C= (p.His931=)
c.2799C= (p.His933=)
8g.115418333G>TCA372064169TRPS1c.2820C>A (p.His940Gln)
c.2781C>A (p.His927Gln)
c.154C>A
c.2043C>A (p.His681Gln)
c.2793C>A (p.His931Gln)
c.2799C>A (p.His933Gln)
8g.115418334T>ACA372064172TRPS1c.2819A>T (p.His940Leu)
c.2780A>T (p.His927Leu)
c.153A>T
c.2042A>T (p.His681Leu)
c.2792A>T (p.His931Leu)
c.2798A>T (p.His933Leu)
8g.115418334T>CCA372064171TRPS1c.2819A>G (p.His940Arg)
c.2780A>G (p.His927Arg)
c.153A>G
c.2042A>G (p.His681Arg)
c.2792A>G (p.His931Arg)
c.2798A>G (p.His933Arg)
8g.115418334T>GCA372064170TRPS1c.2819A>C (p.His940Pro)
c.2780A>C (p.His927Pro)
c.153A>C
c.2042A>C (p.His681Pro)
c.2792A>C (p.His931Pro)
c.2798A>C (p.His933Pro)
8g.115418335G>ACA372064173TRPS1c.2818C>T (p.His940Tyr)
c.2779C>T (p.His927Tyr)
c.152C>T
c.2041C>T (p.His681Tyr)
c.2791C>T (p.His931Tyr)
c.2797C>T (p.His933Tyr)
8g.115418335G>CCA372064174TRPS1c.2818C>G (p.His940Asp)
c.2779C>G (p.His927Asp)
c.152C>G
c.2041C>G (p.His681Asp)
c.2791C>G (p.His931Asp)
c.2797C>G (p.His933Asp)
8g.115418335G>TCA372064175TRPS1c.2818C>A (p.His940Asn)
c.2779C>A (p.His927Asn)
c.152C>A
c.2041C>A (p.His681Asn)
c.2791C>A (p.His931Asn)
c.2797C>A (p.His933Asn)
8g.115418336A>CCA462631393TRPS1c.2817T>G (p.Leu939=)
c.2778T>G (p.Leu926=)
c.151T>G
c.2040T>G (p.Leu680=)
c.2790T>G (p.Leu930=)
c.2796T>G (p.Leu932=)
8g.115418336A>GCA462631394TRPS1c.2817T>C (p.Leu939=)
c.2778T>C (p.Leu926=)
c.151T>C
c.2040T>C (p.Leu680=)
c.2790T>C (p.Leu930=)
c.2796T>C (p.Leu932=)
 COSMIC COSMIC
8g.115418336A>TCA462631395TRPS1c.2817T>A (p.Leu939=)
c.2778T>A (p.Leu926=)
c.151T>A
c.2040T>A (p.Leu680=)
c.2790T>A (p.Leu930=)
c.2796T>A (p.Leu932=)
8g.115418337A>CCA372064176TRPS1c.2816T>G (p.Leu939Arg)
c.2777T>G (p.Leu926Arg)
c.150T>G
c.2039T>G (p.Leu680Arg)
c.2789T>G (p.Leu930Arg)
c.2795T>G (p.Leu932Arg)
8g.115418337A>GCA372064177TRPS1c.2816T>C (p.Leu939Pro)
c.2777T>C (p.Leu926Pro)
c.150T>C
c.2039T>C (p.Leu680Pro)
c.2789T>C (p.Leu930Pro)
c.2795T>C (p.Leu932Pro)
8g.115418337A>TCA372064178TRPS1c.2816T>A (p.Leu939His)
c.2777T>A (p.Leu926His)
c.150T>A
c.2039T>A (p.Leu680His)
c.2789T>A (p.Leu930His)
c.2795T>A (p.Leu932His)
8g.115418338G>ACA372064179TRPS1c.2815C>T (p.Leu939Phe)
c.2776C>T (p.Leu926Phe)
c.149C>T
c.2038C>T (p.Leu680Phe)
c.2788C>T (p.Leu930Phe)
c.2794C>T (p.Leu932Phe)
8g.115418338G>CCA372064180TRPS1c.2815C>G (p.Leu939Val)
c.2776C>G (p.Leu926Val)
c.149C>G
c.2038C>G (p.Leu680Val)
c.2788C>G (p.Leu930Val)
c.2794C>G (p.Leu932Val)
8g.115418338G>TCA372064181TRPS1c.2815C>A (p.Leu939Ile)
c.2776C>A (p.Leu926Ile)
c.149C>A
c.2038C>A (p.Leu680Ile)
c.2788C>A (p.Leu930Ile)
c.2794C>A (p.Leu932Ile)
8g.115418339C>ACA372064182TRPS1c.2814G>T (p.Lys938Asn)
c.2775G>T (p.Lys925Asn)
c.148G>T
c.2037G>T (p.Lys679Asn)
c.2787G>T (p.Lys929Asn)
c.2793G>T (p.Lys931Asn)
8g.115418339C>GCA372064183TRPS1c.2814G>C (p.Lys938Asn)
c.2775G>C (p.Lys925Asn)
c.148G>C
c.2037G>C (p.Lys679Asn)
c.2787G>C (p.Lys929Asn)
c.2793G>C (p.Lys931Asn)
8g.115418339C>TCA462631396TRPS1c.2814G>A (p.Lys938=)
c.2775G>A (p.Lys925=)
c.148G>A
c.2037G>A (p.Lys679=)
c.2787G>A (p.Lys929=)
c.2793G>A (p.Lys931=)
8g.115418340T>ACA372064185TRPS1c.2813A>T (p.Lys938Met)
c.2774A>T (p.Lys925Met)
c.147A>T
c.2036A>T (p.Lys679Met)
c.2786A>T (p.Lys929Met)
c.2792A>T (p.Lys931Met)
8g.115418340T>CCA372064186TRPS1c.2813A>G (p.Lys938Arg)
c.2774A>G (p.Lys925Arg)
c.147A>G
c.2036A>G (p.Lys679Arg)
c.2786A>G (p.Lys929Arg)
c.2792A>G (p.Lys931Arg)
8g.115418340T>GCA372064184TRPS1c.2813A>C (p.Lys938Thr)
c.2774A>C (p.Lys925Thr)
c.147A>C
c.2036A>C (p.Lys679Thr)
c.2786A>C (p.Lys929Thr)
c.2792A>C (p.Lys931Thr)
8g.115418341T>ACA372064187TRPS1c.2812A>T (p.Lys938Ter)
c.2773A>T (p.Lys925Ter)
c.146A>T
c.2035A>T (p.Lys679Ter)
c.2785A>T (p.Lys929Ter)
c.2791A>T (p.Lys931Ter)
8g.115418341T>CCA372064188TRPS1c.2812A>G (p.Lys938Glu)
c.2773A>G (p.Lys925Glu)
c.146A>G
c.2035A>G (p.Lys679Glu)
c.2785A>G (p.Lys929Glu)
c.2791A>G (p.Lys931Glu)
8g.115418341T>GCA372064189TRPS1c.2812A>C (p.Lys938Gln)
c.2773A>C (p.Lys925Gln)
c.146A>C
c.2035A>C (p.Lys679Gln)
c.2785A>C (p.Lys929Gln)
c.2791A>C (p.Lys931Gln)
8g.115418342C>ACA372064190TRPS1c.2811G>T (p.Gln937His)
c.2772G>T (p.Gln924His)
c.145G>T
c.2034G>T (p.Gln678His)
c.2784G>T (p.Gln928His)
c.2790G>T (p.Gln930His)
8g.115418342C>GCA372064191TRPS1c.2811G>C (p.Gln937His)
c.2772G>C (p.Gln924His)
c.145G>C
c.2034G>C (p.Gln678His)
c.2784G>C (p.Gln928His)
c.2790G>C (p.Gln930His)
8g.115418342C>TCA462631397TRPS1c.2811G>A (p.Gln937=)
c.2772G>A (p.Gln924=)
c.145G>A
c.2034G>A (p.Gln678=)
c.2784G>A (p.Gln928=)
c.2790G>A (p.Gln930=)
8g.115418343T>ACA372064194TRPS1c.2810A>T (p.Gln937Leu)
c.2771A>T (p.Gln924Leu)
c.144A>T
c.2033A>T (p.Gln678Leu)
c.2783A>T (p.Gln928Leu)
c.2789A>T (p.Gln930Leu)
8g.115418343T>CCA372064192TRPS1c.2810A>G (p.Gln937Arg)
c.2771A>G (p.Gln924Arg)
c.144A>G
c.2033A>G (p.Gln678Arg)
c.2783A>G (p.Gln928Arg)
c.2789A>G (p.Gln930Arg)
 COSMIC COSMIC
8g.115418343T>GCA372064193TRPS1c.2810A>C (p.Gln937Pro)
c.2771A>C (p.Gln924Pro)
c.144A>C
c.2033A>C (p.Gln678Pro)
c.2783A>C (p.Gln928Pro)
c.2789A>C (p.Gln930Pro)
8g.115418344G>ACA372064195TRPS1c.2809C>T (p.Gln937Ter)
c.2770C>T (p.Gln924Ter)
c.143C>T
c.2032C>T (p.Gln678Ter)
c.2782C>T (p.Gln928Ter)
c.2788C>T (p.Gln930Ter)
8g.115418344G>CCA372064196TRPS1c.2809C>G (p.Gln937Glu)
c.2770C>G (p.Gln924Glu)
c.143C>G
c.2032C>G (p.Gln678Glu)
c.2782C>G (p.Gln928Glu)
c.2788C>G (p.Gln930Glu)
8g.115418344G>TCA372064197TRPS1c.2809C>A (p.Gln937Lys)
c.2770C>A (p.Gln924Lys)
c.143C>A
c.2032C>A (p.Gln678Lys)
c.2782C>A (p.Gln928Lys)
c.2788C>A (p.Gln930Lys)
8g.115418345G>ACA462631398TRPS1c.2808C>T (p.Tyr936=)
c.2769C>T (p.Tyr923=)
c.142C>T
c.2031C>T (p.Tyr677=)
c.2781C>T (p.Tyr927=)
c.2787C>T (p.Tyr929=)
 dbSNP gnomAD v2 gnomAD v4
8g.115418345G>CCA372064198TRPS1c.2808C>G (p.Tyr936Ter)
c.2769C>G (p.Tyr923Ter)
c.142C>G
c.2031C>G (p.Tyr677Ter)
c.2781C>G (p.Tyr927Ter)
c.2787C>G (p.Tyr929Ter)
 ClinVar
8g.115418345G=CA1812857384TRPS1c.2808C= (p.Tyr936=)
c.2769C= (p.Tyr923=)
c.142C=
c.2031C= (p.Tyr677=)
c.2781C= (p.Tyr927=)
c.2787C= (p.Tyr929=)
8g.115418345G>TCA372064199TRPS1c.2808C>A (p.Tyr936Ter)
c.2769C>A (p.Tyr923Ter)
c.142C>A
c.2031C>A (p.Tyr677Ter)
c.2781C>A (p.Tyr927Ter)
c.2787C>A (p.Tyr929Ter)
8g.115418346T>ACA372064200TRPS1c.2807A>T (p.Tyr936Phe)
c.2768A>T (p.Tyr923Phe)
c.141A>T
c.2030A>T (p.Tyr677Phe)
c.2780A>T (p.Tyr927Phe)
c.2786A>T (p.Tyr929Phe)
8g.115418346T>CCA372064202TRPS1c.2807A>G (p.Tyr936Cys)
c.2768A>G (p.Tyr923Cys)
c.141A>G
c.2030A>G (p.Tyr677Cys)
c.2780A>G (p.Tyr927Cys)
c.2786A>G (p.Tyr929Cys)
8g.115418346T>GCA372064201TRPS1c.2807A>C (p.Tyr936Ser)
c.2768A>C (p.Tyr923Ser)
c.141A>C
c.2030A>C (p.Tyr677Ser)
c.2780A>C (p.Tyr927Ser)
c.2786A>C (p.Tyr929Ser)
8g.115418347A>CCA372064203TRPS1c.2806T>G (p.Tyr936Asp)
c.2767T>G (p.Tyr923Asp)
c.140T>G
c.2029T>G (p.Tyr677Asp)
c.2779T>G (p.Tyr927Asp)
c.2785T>G (p.Tyr929Asp)
8g.115418347A>GCA372064204TRPS1c.2806T>C (p.Tyr936His)
c.2767T>C (p.Tyr923His)
c.140T>C
c.2029T>C (p.Tyr677His)
c.2779T>C (p.Tyr927His)
c.2785T>C (p.Tyr929His)
8g.115418347A>TCA372064205TRPS1c.2806T>A (p.Tyr936Asn)
c.2767T>A (p.Tyr923Asn)
c.140T>A
c.2029T>A (p.Tyr677Asn)
c.2779T>A (p.Tyr927Asn)
c.2785T>A (p.Tyr929Asn)
8g.115418348G>ACA462631399TRPS1c.2805C>T (p.Leu935=)
c.2766C>T (p.Leu922=)
c.139C>T
c.2028C>T (p.Leu676=)
c.2778C>T (p.Leu926=)
c.2784C>T (p.Leu928=)
8g.115418348G>CCA462631400TRPS1c.2805C>G (p.Leu935=)
c.2766C>G (p.Leu922=)
c.139C>G
c.2028C>G (p.Leu676=)
c.2778C>G (p.Leu926=)
c.2784C>G (p.Leu928=)
 dbSNP gnomAD v4
8g.115418348G>TCA462631401TRPS1c.2805C>A (p.Leu935=)
c.2766C>A (p.Leu922=)
c.139C>A
c.2028C>A (p.Leu676=)
c.2778C>A (p.Leu926=)
c.2784C>A (p.Leu928=)
8g.115418349A>CCA372064206TRPS1c.2804T>G (p.Leu935Arg)
c.2765T>G (p.Leu922Arg)
c.138T>G
c.2027T>G (p.Leu676Arg)
c.2777T>G (p.Leu926Arg)
c.2783T>G (p.Leu928Arg)
8g.115418349A>GCA372064207TRPS1c.2804T>C (p.Leu935Pro)
c.2765T>C (p.Leu922Pro)
c.138T>C
c.2027T>C (p.Leu676Pro)
c.2777T>C (p.Leu926Pro)
c.2783T>C (p.Leu928Pro)
8g.115418349A>TCA372064208TRPS1c.2804T>A (p.Leu935His)
c.2765T>A (p.Leu922His)
c.138T>A
c.2027T>A (p.Leu676His)
c.2777T>A (p.Leu926His)
c.2783T>A (p.Leu928His)
 COSMIC COSMIC
8g.115418350G>ACA372064209TRPS1c.2803C>T (p.Leu935Phe)
c.2764C>T (p.Leu922Phe)
c.137C>T
c.2026C>T (p.Leu676Phe)
c.2776C>T (p.Leu926Phe)
c.2782C>T (p.Leu928Phe)
 ClinVar dbSNP
8g.115418350G>CCA372064210TRPS1c.2803C>G (p.Leu935Val)
c.2764C>G (p.Leu922Val)
c.137C>G
c.2026C>G (p.Leu676Val)
c.2776C>G (p.Leu926Val)
c.2782C>G (p.Leu928Val)
8g.115418350G=CA1812857388TRPS1c.2803C= (p.Leu935=)
c.2764C= (p.Leu922=)
c.137C=
c.2026C= (p.Leu676=)
c.2776C= (p.Leu926=)
c.2782C= (p.Leu928=)
8g.115418350G>TCA372064211TRPS1c.2803C>A (p.Leu935Ile)
c.2764C>A (p.Leu922Ile)
c.137C>A
c.2026C>A (p.Leu676Ile)
c.2776C>A (p.Leu926Ile)
c.2782C>A (p.Leu928Ile)
8g.115418351G>ACA462631402TRPS1c.2802C>T (p.Gly934=)
c.2763C>T (p.Gly921=)
c.136C>T
c.2025C>T (p.Gly675=)
c.2775C>T (p.Gly925=)
c.2781C>T (p.Gly927=)
8g.115418351G>CCA462631403TRPS1c.2802C>G (p.Gly934=)
c.2763C>G (p.Gly921=)
c.136C>G
c.2025C>G (p.Gly675=)
c.2775C>G (p.Gly925=)
c.2781C>G (p.Gly927=)
8g.115418351G>TCA462631404TRPS1c.2802C>A (p.Gly934=)
c.2763C>A (p.Gly921=)
c.136C>A
c.2025C>A (p.Gly675=)
c.2775C>A (p.Gly925=)
c.2781C>A (p.Gly927=)
8g.115418352C>ACA372064212TRPS1c.2801G>T (p.Gly934Val)
c.2762G>T (p.Gly921Val)
c.135G>T
c.2024G>T (p.Gly675Val)
c.2774G>T (p.Gly925Val)
c.2780G>T (p.Gly927Val)
 ClinVar dbSNP
8g.115418352C=CA1812857395TRPS1c.2801G= (p.Gly934=)
c.2762G= (p.Gly921=)
c.135G=
c.2024G= (p.Gly675=)
c.2774G= (p.Gly925=)
c.2780G= (p.Gly927=)
8g.115418352C>GCA372064213TRPS1c.2801G>C (p.Gly934Ala)
c.2762G>C (p.Gly921Ala)
c.135G>C
c.2024G>C (p.Gly675Ala)
c.2774G>C (p.Gly925Ala)
c.2780G>C (p.Gly927Ala)
8g.115418352C>TCA372064214TRPS1c.2801G>A (p.Gly934Asp)
c.2762G>A (p.Gly921Asp)
c.135G>A
c.2024G>A (p.Gly675Asp)
c.2774G>A (p.Gly925Asp)
c.2780G>A (p.Gly927Asp)
8g.115418353C>ACA372064216TRPS1c.2800G>T (p.Gly934Cys)
c.2761G>T (p.Gly921Cys)
c.134G>T
c.2023G>T (p.Gly675Cys)
c.2773G>T (p.Gly925Cys)
c.2779G>T (p.Gly927Cys)
8g.115418353C>GCA372064217TRPS1c.2800G>C (p.Gly934Arg)
c.2761G>C (p.Gly921Arg)
c.134G>C
c.2023G>C (p.Gly675Arg)
c.2773G>C (p.Gly925Arg)
c.2779G>C (p.Gly927Arg)
8g.115418353C>TCA372064215TRPS1c.2800G>A (p.Gly934Ser)
c.2761G>A (p.Gly921Ser)
c.134G>A
c.2023G>A (p.Gly675Ser)
c.2773G>A (p.Gly925Ser)
c.2779G>A (p.Gly927Ser)
8g.115418354A>CCA372064219TRPS1c.2799T>G (p.Cys933Trp)
c.2760T>G (p.Cys920Trp)
c.133T>G
c.2022T>G (p.Cys674Trp)
c.2772T>G (p.Cys924Trp)
c.2778T>G (p.Cys926Trp)
8g.115418354A>GCA462631405TRPS1c.2799T>C (p.Cys933=)
c.2760T>C (p.Cys920=)
c.133T>C
c.2022T>C (p.Cys674=)
c.2772T>C (p.Cys924=)
c.2778T>C (p.Cys926=)
8g.115418354A>TCA372064218TRPS1c.2799T>A (p.Cys933Ter)
c.2760T>A (p.Cys920Ter)
c.133T>A
c.2022T>A (p.Cys674Ter)
c.2772T>A (p.Cys924Ter)
c.2778T>A (p.Cys926Ter)
8g.115418355C>ACA372064220TRPS1c.2798G>T (p.Cys933Phe)
c.2759G>T (p.Cys920Phe)
c.132G>T
c.2021G>T (p.Cys674Phe)
c.2771G>T (p.Cys924Phe)
c.2777G>T (p.Cys926Phe)
8g.115418355C=CA1812857400TRPS1c.2798G= (p.Cys933=)
c.2759G= (p.Cys920=)
c.132G=
c.2021G= (p.Cys674=)
c.2771G= (p.Cys924=)
c.2777G= (p.Cys926=)
8g.115418355C>GCA372064221TRPS1c.2798G>C (p.Cys933Ser)
c.2759G>C (p.Cys920Ser)
c.132G>C
c.2021G>C (p.Cys674Ser)
c.2771G>C (p.Cys924Ser)
c.2777G>C (p.Cys926Ser)
8g.115418355C>TCA372064222TRPS1c.2798G>A (p.Cys933Tyr)
c.2759G>A (p.Cys920Tyr)
c.132G>A
c.2021G>A (p.Cys674Tyr)
c.2771G>A (p.Cys924Tyr)
c.2777G>A (p.Cys926Tyr)
 ClinVar dbSNP
8g.115418356A>CCA372064223TRPS1c.2797T>G (p.Cys933Gly)
c.2758T>G (p.Cys920Gly)
c.131T>G
c.2020T>G (p.Cys674Gly)
c.2770T>G (p.Cys924Gly)
c.2776T>G (p.Cys926Gly)
8g.115418356A>GCA372064224TRPS1c.2797T>C (p.Cys933Arg)
c.2758T>C (p.Cys920Arg)
c.131T>C
c.2020T>C (p.Cys674Arg)
c.2770T>C (p.Cys924Arg)
c.2776T>C (p.Cys926Arg)
 ClinVar dbSNP
8g.115418356A>TCA372064225TRPS1c.2797T>A (p.Cys933Ser)
c.2758T>A (p.Cys920Ser)
c.131T>A
c.2020T>A (p.Cys674Ser)
c.2770T>A (p.Cys924Ser)
c.2776T>A (p.Cys926Ser)
8g.115418357C>ACA462631406TRPS1c.2796G>T (p.Ala932=)
c.2757G>T (p.Ala919=)
c.130G>T
c.2019G>T (p.Ala673=)
c.2769G>T (p.Ala923=)
c.2775G>T (p.Ala925=)
8g.115418357C=CA1812857409TRPS1c.2796G= (p.Ala932=)
c.2757G= (p.Ala919=)
c.130G=
c.2019G= (p.Ala673=)
c.2769G= (p.Ala923=)
c.2775G= (p.Ala925=)
8g.115418357C>GCA462631407TRPS1c.2796G>C (p.Ala932=)
c.2757G>C (p.Ala919=)
c.130G>C
c.2019G>C (p.Ala673=)
c.2769G>C (p.Ala923=)
c.2775G>C (p.Ala925=)
8g.115418357C>TCA4851576TRPS1c.2796G>A (p.Ala932=)
c.2757G>A (p.Ala919=)
c.130G>A
c.2019G>A (p.Ala673=)
c.2769G>A (p.Ala923=)
c.2775G>A (p.Ala925=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418358G>ACA117616TRPS1c.2795C>T (p.Ala932Val)
c.2756C>T (p.Ala919Val)
c.129C>T
c.2018C>T (p.Ala673Val)
c.2768C>T (p.Ala923Val)
c.2774C>T (p.Ala925Val)
 ClinVar dbSNP COSMIC COSMIC
8g.115418358G>CCA372064226TRPS1c.2795C>G (p.Ala932Gly)
c.2756C>G (p.Ala919Gly)
c.129C>G
c.2018C>G (p.Ala673Gly)
c.2768C>G (p.Ala923Gly)
c.2774C>G (p.Ala925Gly)
8g.115418358G=CA1812857414TRPS1c.2795C= (p.Ala932=)
c.2756C= (p.Ala919=)
c.129C=
c.2018C= (p.Ala673=)
c.2768C= (p.Ala923=)
c.2774C= (p.Ala925=)
8g.115418358G>TCA372064227TRPS1c.2795C>A (p.Ala932Glu)
c.2756C>A (p.Ala919Glu)
c.129C>A
c.2018C>A (p.Ala673Glu)
c.2768C>A (p.Ala923Glu)
c.2774C>A (p.Ala925Glu)
8g.115418359C>ACA372064228TRPS1c.2794G>T (p.Ala932Ser)
c.2755G>T (p.Ala919Ser)
c.128G>T
c.2017G>T (p.Ala673Ser)
c.2767G>T (p.Ala923Ser)
c.2773G>T (p.Ala925Ser)
8g.115418359C=CA1812857417TRPS1c.2794G= (p.Ala932=)
c.2755G= (p.Ala919=)
c.128G=
c.2017G= (p.Ala673=)
c.2767G= (p.Ala923=)
c.2773G= (p.Ala925=)
8g.115418359C>GCA372064229TRPS1c.2794G>C (p.Ala932Pro)
c.2755G>C (p.Ala919Pro)
c.128G>C
c.2017G>C (p.Ala673Pro)
c.2767G>C (p.Ala923Pro)
c.2773G>C (p.Ala925Pro)
8g.115418359C>TCA16043431TRPS1c.2794G>A (p.Ala932Thr)
c.2755G>A (p.Ala919Thr)
c.128G>A
c.2017G>A (p.Ala673Thr)
c.2767G>A (p.Ala923Thr)
c.2773G>A (p.Ala925Thr)
 ClinVar dbSNP

Number of alleles fetched