Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209617354G>A | CA2650320242 | LAMB3 | c.3228+56C>T (n.3228+56C>T) c.435+56C>T (n.435+56C>T) c.3036+56C>T (n.3036+56C>T) | gnomAD v4 |
1 | g.209617354G>T | CA2650320243 | LAMB3 | c.3228+56C>A (n.3228+56C>A) c.435+56C>A (n.435+56C>A) c.3036+56C>A (n.3036+56C>A) | gnomAD v4 |
1 | g.209617355C>G | CA2650320244 | LAMB3 | c.3228+55G>C (n.3228+55G>C) c.435+55G>C (n.435+55G>C) c.3036+55G>C (n.3036+55G>C) | gnomAD v4 |
1 | g.209617356T>C | CA2650320245 | LAMB3 | c.3228+54A>G (n.3228+54A>G) c.435+54A>G (n.435+54A>G) c.3036+54A>G (n.3036+54A>G) | gnomAD v4 |
1 | g.209617357C>A | CA2650320246 | LAMB3 | c.3228+53G>T (n.3228+53G>T) c.435+53G>T (n.435+53G>T) c.3036+53G>T (n.3036+53G>T) | gnomAD v4 |
1 | g.209617357C>T | CA2573997534 | LAMB3 | c.3228+53G>A (n.3228+53G>A) c.435+53G>A (n.435+53G>A) c.3036+53G>A (n.3036+53G>A) | |
1 | g.209617358A>G | CA2573997557 | LAMB3 | c.3228+52T>C (n.3228+52T>C) c.435+52T>C (n.435+52T>C) c.3036+52T>C (n.3036+52T>C) | gnomAD v4 |
1 | g.209617358A>T | CA2697960653 | LAMB3 | c.3228+52T>A (n.3228+52T>A) c.435+52T>A (n.435+52T>A) c.3036+52T>A (n.3036+52T>A) | dbSNP |
1 | g.209617359G>A | CA1374926 | LAMB3 | c.3228+51C>T (n.3228+51C>T) c.435+51C>T (n.435+51C>T) c.3036+51C>T (n.3036+51C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617359G= | CA1148025727 | LAMB3 | c.3228+51C= (n.3228+51C=) c.435+51C= (n.435+51C=) c.3036+51C= (n.3036+51C=) | |
1 | g.209617359G>T | CA2838455929 | LAMB3 | c.3228+51C>A (n.3228+51C>A) c.435+51C>A (n.435+51C>A) c.3036+51C>A (n.3036+51C>A) | |
1 | g.209617360G>C | CA2573997590 | LAMB3 | c.3228+50C>G (n.3228+50C>G) c.435+50C>G (n.435+50C>G) c.3036+50C>G (n.3036+50C>G) | |
1 | g.209617360G>T | CA2573997576 | LAMB3 | c.3228+50C>A (n.3228+50C>A) c.435+50C>A (n.435+50C>A) c.3036+50C>A (n.3036+50C>A) | gnomAD v4 |
1 | g.209617361A= | CA1148874248 | LAMB3 | c.3228+49T= (n.3228+49T=) c.435+49T= (n.435+49T=) c.3036+49T= (n.3036+49T=) | |
1 | g.209617361A>G | CA1374927 | LAMB3 | c.3228+49T>C (n.3228+49T>C) c.435+49T>C (n.435+49T>C) c.3036+49T>C (n.3036+49T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617362C>A | CA1374930 | LAMB3 | c.3228+48G>T (n.3228+48G>T) c.435+48G>T (n.435+48G>T) c.3036+48G>T (n.3036+48G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617362C= | CA1140610904 | LAMB3 | c.3228+48G= (n.3228+48G=) c.435+48G= (n.435+48G=) c.3036+48G= (n.3036+48G=) | |
1 | g.209617362C>G | CA1374928 | LAMB3 | c.3228+48G>C (n.3228+48G>C) c.435+48G>C (n.435+48G>C) c.3036+48G>C (n.3036+48G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617362C>T | CA1374929 | LAMB3 | c.3228+48G>A (n.3228+48G>A) c.435+48G>A (n.435+48G>A) c.3036+48G>A (n.3036+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617366dup | CA2832538353 | LAMB3 | c.3228+48dup (n.3228+48dup) c.435+48dup (n.435+48dup) c.3036+48dup (n.3036+48dup) | |
1 | g.209617366del | CA2573997595 | LAMB3 | c.3228+48del (n.3228+48del) c.435+48del (n.435+48del) c.3036+48del (n.3036+48del) | |
1 | g.209617363C>T | CA2839804487 | LAMB3 | c.3228+47G>A (n.3228+47G>A) c.435+47G>A (n.435+47G>A) c.3036+47G>A (n.3036+47G>A) | |
1 | g.209617364C>A | CA2840215349 | LAMB3 | c.3228+46G>T (n.3228+46G>T) c.435+46G>T (n.435+46G>T) c.3036+46G>T (n.3036+46G>T) | |
1 | g.209617364C= | CA2484295824 | LAMB3 | c.3228+46G= (n.3228+46G=) c.435+46G= (n.435+46G=) c.3036+46G= (n.3036+46G=) | |
1 | g.209617364C>G | CA528652447 | LAMB3 | c.3228+46G>C (n.3228+46G>C) c.435+46G>C (n.435+46G>C) c.3036+46G>C (n.3036+46G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617365C>A | CA2839804488 | LAMB3 | c.3228+45G>T (n.3228+45G>T) c.435+45G>T (n.435+45G>T) c.3036+45G>T (n.3036+45G>T) | |
1 | g.209617365C= | CA2484295825 | LAMB3 | c.3228+45G= (n.3228+45G=) c.435+45G= (n.435+45G=) c.3036+45G= (n.3036+45G=) | |
1 | g.209617365C>T | CA528652448 | LAMB3 | c.3228+45G>A (n.3228+45G>A) c.435+45G>A (n.435+45G>A) c.3036+45G>A (n.3036+45G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617366C>A | CA1374931 | LAMB3 | c.3228+44G>T (n.3228+44G>T) c.435+44G>T (n.435+44G>T) c.3036+44G>T (n.3036+44G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617366C= | CA1146940684 | LAMB3 | c.3228+44G= (n.3228+44G=) c.435+44G= (n.435+44G=) c.3036+44G= (n.3036+44G=) | |
1 | g.209617366C>T | CA2838455936 | LAMB3 | c.3228+44G>A (n.3228+44G>A) c.435+44G>A (n.435+44G>A) c.3036+44G>A (n.3036+44G>A) | |
1 | g.209617367T>A | CA2573997600 | LAMB3 | c.3228+43A>T (n.3228+43A>T) c.435+43A>T (n.435+43A>T) c.3036+43A>T (n.3036+43A>T) | |
1 | g.209617367T>C | CA2650320247 | LAMB3 | c.3228+43A>G (n.3228+43A>G) c.435+43A>G (n.435+43A>G) c.3036+43A>G (n.3036+43A>G) | gnomAD v4 |
1 | g.209617368C>A | CA2840215350 | LAMB3 | c.3228+42G>T (n.3228+42G>T) c.435+42G>T (n.435+42G>T) c.3036+42G>T (n.3036+42G>T) | |
1 | g.209617368C= | CA2484295826 | LAMB3 | c.3228+42G= (n.3228+42G=) c.435+42G= (n.435+42G=) c.3036+42G= (n.3036+42G=) | |
1 | g.209617368C>T | CA1374932 | LAMB3 | c.3228+42G>A (n.3228+42G>A) c.435+42G>A (n.435+42G>A) c.3036+42G>A (n.3036+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617369A= | CA1148299202 | LAMB3 | c.3228+41T= (n.3228+41T=) c.435+41T= (n.435+41T=) c.3036+41T= (n.3036+41T=) | |
1 | g.209617369A>C | CA2484295827 | LAMB3 | c.3228+41T>G (n.3228+41T>G) c.435+41T>G (n.435+41T>G) c.3036+41T>G (n.3036+41T>G) | dbSNP |
1 | g.209617369A>T | CA1374933 | LAMB3 | c.3228+41T>A (n.3228+41T>A) c.435+41T>A (n.435+41T>A) c.3036+41T>A (n.3036+41T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617370C>T | CA2573997653 | LAMB3 | c.3228+40G>A (n.3228+40G>A) c.435+40G>A (n.435+40G>A) c.3036+40G>A (n.3036+40G>A) | gnomAD v4 |
1 | g.209617372G>T | CA2573997656 | LAMB3 | c.3228+38C>A (n.3228+38C>A) c.435+38C>A (n.435+38C>A) c.3036+38C>A (n.3036+38C>A) | gnomAD v4 |
1 | g.209617373G>A | CA36749444 | LAMB3 | c.3228+37C>T (n.3228+37C>T) c.435+37C>T (n.435+37C>T) c.3036+37C>T (n.3036+37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617373G= | CA1143517320 | LAMB3 | c.3228+37C= (n.3228+37C=) c.435+37C= (n.435+37C=) c.3036+37C= (n.3036+37C=) | |
1 | g.209617373G>T | CA2650320248 | LAMB3 | c.3228+37C>A (n.3228+37C>A) c.435+37C>A (n.435+37C>A) c.3036+37C>A (n.3036+37C>A) | gnomAD v4 |
1 | g.209617374C>A | CA2650320249 | LAMB3 | c.3228+36G>T (n.3228+36G>T) c.435+36G>T (n.435+36G>T) c.3036+36G>T (n.3036+36G>T) | gnomAD v4 |
1 | g.209617374C= | CA2484295828 | LAMB3 | c.3228+36G= (n.3228+36G=) c.435+36G= (n.435+36G=) c.3036+36G= (n.3036+36G=) | |
1 | g.209617374C>T | CA1374934 | LAMB3 | c.3228+36G>A (n.3228+36G>A) c.435+36G>A (n.435+36G>A) c.3036+36G>A (n.3036+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617375C>A | CA2650320250 | LAMB3 | c.3228+35G>T (n.3228+35G>T) c.435+35G>T (n.435+35G>T) c.3036+35G>T (n.3036+35G>T) | gnomAD v4 |
1 | g.209617375C= | CA1143852462 | LAMB3 | c.3228+35G= (n.3228+35G=) c.435+35G= (n.435+35G=) c.3036+35G= (n.3036+35G=) | |
1 | g.209617375C>T | CA1374935 | LAMB3 | c.3228+35G>A (n.3228+35G>A) c.435+35G>A (n.435+35G>A) c.3036+35G>A (n.3036+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617376G>A | CA1374936 | LAMB3 | c.3228+34C>T (n.3228+34C>T) c.435+34C>T (n.435+34C>T) c.3036+34C>T (n.3036+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617376G>C | CA2650320251 | LAMB3 | c.3228+34C>G (n.3228+34C>G) c.435+34C>G (n.435+34C>G) c.3036+34C>G (n.3036+34C>G) | gnomAD v4 |
1 | g.209617376G= | CA1143603609 | LAMB3 | c.3228+34C= (n.3228+34C=) c.435+34C= (n.435+34C=) c.3036+34C= (n.3036+34C=) | |
1 | g.209617376G>T | CA730845788 | LAMB3 | c.3228+34C>A (n.3228+34C>A) c.435+34C>A (n.435+34C>A) c.3036+34C>A (n.3036+34C>A) | dbSNP gnomAD v4 |
1 | g.209617379C= | CA2484295829 | LAMB3 | c.3228+31G= (n.3228+31G=) c.435+31G= (n.435+31G=) c.3036+31G= (n.3036+31G=) | |
1 | g.209617379C>G | CA2840215351 | LAMB3 | c.3228+31G>C (n.3228+31G>C) c.435+31G>C (n.435+31G>C) c.3036+31G>C (n.3036+31G>C) | |
1 | g.209617379C>T | CA1374937 | LAMB3 | c.3228+31G>A (n.3228+31G>A) c.435+31G>A (n.435+31G>A) c.3036+31G>A (n.3036+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617380A= | CA2484295830 | LAMB3 | c.3228+30T= (n.3228+30T=) c.435+30T= (n.435+30T=) c.3036+30T= (n.3036+30T=) | |
1 | g.209617380A>G | CA1374938 | LAMB3 | c.3228+30T>C (n.3228+30T>C) c.435+30T>C (n.435+30T>C) c.3036+30T>C (n.3036+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617381T>A | CA528652449 | LAMB3 | c.3228+29A>T (n.3228+29A>T) c.435+29A>T (n.435+29A>T) c.3036+29A>T (n.3036+29A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617381T= | CA2484295831 | LAMB3 | c.3228+29A= (n.3228+29A=) c.435+29A= (n.435+29A=) c.3036+29A= (n.3036+29A=) | |
1 | g.209617382C= | CA1143814973 | LAMB3 | c.3228+28G= (n.3228+28G=) c.435+28G= (n.435+28G=) c.3036+28G= (n.3036+28G=) | |
1 | g.209617382C>T | CA36749449 | LAMB3 | c.3228+28G>A (n.3228+28G>A) c.435+28G>A (n.435+28G>A) c.3036+28G>A (n.3036+28G>A) | dbSNP gnomAD v4 |
1 | g.209617383A>G | CA2650320252 | LAMB3 | c.3228+27T>C (n.3228+27T>C) c.435+27T>C (n.435+27T>C) c.3036+27T>C (n.3036+27T>C) | gnomAD v4 |
1 | g.209617384T>A | CA2650320253 | LAMB3 | c.3228+26A>T (n.3228+26A>T) c.435+26A>T (n.435+26A>T) c.3036+26A>T (n.3036+26A>T) | gnomAD v4 |
1 | g.209617384T>C | CA1374939 | LAMB3 | c.3228+26A>G (n.3228+26A>G) c.435+26A>G (n.435+26A>G) c.3036+26A>G (n.3036+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617384T= | CA1143868487 | LAMB3 | c.3228+26A= (n.3228+26A=) c.435+26A= (n.435+26A=) c.3036+26A= (n.3036+26A=) | |
1 | g.209617385T>A | CA2650320255 | LAMB3 | c.3228+25A>T (n.3228+25A>T) c.435+25A>T (n.435+25A>T) c.3036+25A>T (n.3036+25A>T) | gnomAD v4 |
1 | g.209617385T>C | CA2573655846 | LAMB3 | c.3228+25A>G (n.3228+25A>G) c.435+25A>G (n.435+25A>G) c.3036+25A>G (n.3036+25A>G) | |
1 | g.209617385T>G | CA2650320254 | LAMB3 | c.3228+25A>C (n.3228+25A>C) c.435+25A>C (n.435+25A>C) c.3036+25A>C (n.3036+25A>C) | gnomAD v4 |
1 | g.209617386G>A | CA2650320256 | LAMB3 | c.3228+24C>T (n.3228+24C>T) c.435+24C>T (n.435+24C>T) c.3036+24C>T (n.3036+24C>T) | gnomAD v4 |
1 | g.209617386G>C | CA730845796 | LAMB3 | c.3228+24C>G (n.3228+24C>G) c.435+24C>G (n.435+24C>G) c.3036+24C>G (n.3036+24C>G) | dbSNP gnomAD v4 |
1 | g.209617386G= | CA2484295832 | LAMB3 | c.3228+24C= (n.3228+24C=) c.435+24C= (n.435+24C=) c.3036+24C= (n.3036+24C=) | |
1 | g.209617387A= | CA2484295833 | LAMB3 | c.3228+23T= (n.3228+23T=) c.435+23T= (n.435+23T=) c.3036+23T= (n.3036+23T=) | |
1 | g.209617387A>G | CA730845798 | LAMB3 | c.3228+23T>C (n.3228+23T>C) c.435+23T>C (n.435+23T>C) c.3036+23T>C (n.3036+23T>C) | dbSNP gnomAD v4 |
1 | g.209617389C>A | CA2840215352 | LAMB3 | c.3228+21G>T (n.3228+21G>T) c.435+21G>T (n.435+21G>T) c.3036+21G>T (n.3036+21G>T) | |
1 | g.209617389C>G | CA2650320257 | LAMB3 | c.3228+21G>C (n.3228+21G>C) c.435+21G>C (n.435+21G>C) c.3036+21G>C (n.3036+21G>C) | dbSNP gnomAD v4 |
1 | g.209617391A= | CA2484295834 | LAMB3 | c.3228+19T= (n.3228+19T=) c.435+19T= (n.435+19T=) c.3036+19T= (n.3036+19T=) | |
1 | g.209617391A>C | CA730845802 | LAMB3 | c.3228+19T>G (n.3228+19T>G) c.435+19T>G (n.435+19T>G) c.3036+19T>G (n.3036+19T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617392del | CA2573997699 | LAMB3 | c.3228+19del (n.3228+19del) c.435+19del (n.435+19del) c.3036+19del (n.3036+19del) | |
1 | g.209617392A= | CA2484295835 | LAMB3 | c.3228+18T= (n.3228+18T=) c.435+18T= (n.435+18T=) c.3036+18T= (n.3036+18T=) | |
1 | g.209617392A>G | CA528652450 | LAMB3 | c.3228+18T>C (n.3228+18T>C) c.435+18T>C (n.435+18T>C) c.3036+18T>C (n.3036+18T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617393C>A | CA2697554862 | LAMB3 | c.3228+17G>T (n.3228+17G>T) c.435+17G>T (n.435+17G>T) c.3036+17G>T (n.3036+17G>T) | ClinVar |
1 | g.209617393C>T | CA2840215353 | LAMB3 | c.3228+17G>A (n.3228+17G>A) c.435+17G>A (n.435+17G>A) c.3036+17G>A (n.3036+17G>A) | |
1 | g.209617395C>T | CA2650320258 | LAMB3 | c.3228+15G>A (n.3228+15G>A) c.435+15G>A (n.435+15G>A) c.3036+15G>A (n.3036+15G>A) | gnomAD v4 |
1 | g.209617396dup | CA2840215354 | LAMB3 | c.3228+15dup (n.3228+15dup) c.435+15dup (n.435+15dup) c.3036+15dup (n.3036+15dup) | |
1 | g.209617396C>A | CA528652451 | LAMB3 | c.3228+14G>T (n.3228+14G>T) c.435+14G>T (n.435+14G>T) c.3036+14G>T (n.3036+14G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617396C= | CA2484295836 | LAMB3 | c.3228+14G= (n.3228+14G=) c.435+14G= (n.435+14G=) c.3036+14G= (n.3036+14G=) | |
1 | g.209617396C>T | CA1374940 | LAMB3 | c.3228+14G>A (n.3228+14G>A) c.435+14G>A (n.435+14G>A) c.3036+14G>A (n.3036+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617397G>A | CA1374941 | LAMB3 | c.3228+13C>T (n.3228+13C>T) c.435+13C>T (n.435+13C>T) c.3036+13C>T (n.3036+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617397G= | CA1143977973 | LAMB3 | c.3228+13C= (n.3228+13C=) c.435+13C= (n.435+13C=) c.3036+13C= (n.3036+13C=) | |
1 | g.209617399C= | CA2484295837 | LAMB3 | c.3228+11G= (n.3228+11G=) c.435+11G= (n.435+11G=) c.3036+11G= (n.3036+11G=) | |
1 | g.209617399C>T | CA528652452 | LAMB3 | c.3228+11G>A (n.3228+11G>A) c.435+11G>A (n.435+11G>A) c.3036+11G>A (n.3036+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617400T>C | CA730845824 | LAMB3 | c.3228+10A>G (n.3228+10A>G) c.435+10A>G (n.435+10A>G) c.3036+10A>G (n.3036+10A>G) | dbSNP |
1 | g.209617400T>G | CA1374942 | LAMB3 | c.3228+10A>C (n.3228+10A>C) c.435+10A>C (n.435+10A>C) c.3036+10A>C (n.3036+10A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617400T= | CA2484295838 | LAMB3 | c.3228+10A= (n.3228+10A=) c.435+10A= (n.435+10A=) c.3036+10A= (n.3036+10A=) | |
1 | g.209617402C= | CA2484295839 | LAMB3 | c.3228+8G= (n.3228+8G=) c.435+8G= (n.435+8G=) c.3036+8G= (n.3036+8G=) | |
1 | g.209617402C>T | CA1374943 | LAMB3 | c.3228+8G>A (n.3228+8G>A) c.435+8G>A (n.435+8G>A) c.3036+8G>A (n.3036+8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617403T>C | CA1374944 | LAMB3 | c.3228+7A>G (n.3228+7A>G) c.435+7A>G (n.435+7A>G) c.3036+7A>G (n.3036+7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617403T= | CA2484295840 | LAMB3 | c.3228+7A= (n.3228+7A=) c.435+7A= (n.435+7A=) c.3036+7A= (n.3036+7A=) | |
1 | g.209617405T>C | CA1374945 | LAMB3 | c.3228+5A>G (n.3228+5A>G) c.435+5A>G (n.435+5A>G) c.3036+5A>G (n.3036+5A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617405T= | CA2484295841 | LAMB3 | c.3228+5A= (n.3228+5A=) c.435+5A= (n.435+5A=) c.3036+5A= (n.3036+5A=) | |
1 | g.209617408A= | CA2484295842 | LAMB3 | c.3228+2T= (n.3228+2T=) c.435+2T= (n.435+2T=) c.3036+2T= (n.3036+2T=) | |
1 | g.209617408A>C | CA344583465 | LAMB3 | c.3228+2T>G (n.3228+2T>G) c.435+2T>G (n.435+2T>G) c.3036+2T>G (n.3036+2T>G) | dbSNP |
1 | g.209617408A>G | CA344583468 | LAMB3 | c.3228+2T>C (n.3228+2T>C) c.435+2T>C (n.435+2T>C) c.3036+2T>C (n.3036+2T>C) | |
1 | g.209617408A>T | CA344583469 | LAMB3 | c.3228+2T>A (n.3228+2T>A) c.435+2T>A (n.435+2T>A) c.3036+2T>A (n.3036+2T>A) | ClinVar dbSNP gnomAD v4 |
1 | g.209617409C>A | CA344583472 | LAMB3 | c.3228+1G>T (n.3228+1G>T) c.435+1G>T (n.435+1G>T) c.3036+1G>T (n.3036+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617409C= | CA2484295843 | LAMB3 | c.3228+1G= (n.3228+1G=) c.435+1G= (n.435+1G=) c.3036+1G= (n.3036+1G=) | |
1 | g.209617409C>G | CA344583475 | LAMB3 | c.3228+1G>C (n.3228+1G>C) c.435+1G>C (n.435+1G>C) c.3036+1G>C (n.3036+1G>C) | |
1 | g.209617409C>T | CA1374946 | LAMB3 | c.3228+1G>A (n.3228+1G>A) c.435+1G>A (n.435+1G>A) c.3036+1G>A (n.3036+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617410C>A | CA344583481 | LAMB3 | c.3228G>T (p.Glu1076Asp) c.435G>T (p.Glu145Asp) c.3036G>T (p.Glu1012Asp) | |
1 | g.209617410C= | CA2484295844 | LAMB3 | c.3228G= (p.Glu1076=) c.435G= (p.Glu145=) c.3036G= (p.Glu1012=) | |
1 | g.209617410C>G | CA344583501 | LAMB3 | c.3228G>C (p.Glu1076Asp) c.435G>C (p.Glu145Asp) c.3036G>C (p.Glu1012Asp) | dbSNP |
1 | g.209617410C>T | CA423029305 | LAMB3 | c.3228G>A (p.Glu1076=) c.435G>A (p.Glu145=) c.3036G>A (p.Glu1012=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617411T>A | CA344583503 | LAMB3 | c.3227A>T (p.Glu1076Val) c.434A>T (p.Glu145Val) c.3035A>T (p.Glu1012Val) | |
1 | g.209617411T>C | CA344583507 | LAMB3 | c.3227A>G (p.Glu1076Gly) c.434A>G (p.Glu145Gly) c.3035A>G (p.Glu1012Gly) | |
1 | g.209617411T>G | CA344583505 | LAMB3 | c.3227A>C (p.Glu1076Ala) c.434A>C (p.Glu145Ala) c.3035A>C (p.Glu1012Ala) | dbSNP |
1 | g.209617411T= | CA2484295845 | LAMB3 | c.3227A= (p.Glu1076=) c.434A= (p.Glu145=) c.3035A= (p.Glu1012=) | |
1 | g.209617411dup | CA2840215355 | LAMB3 | c.3227dup (p.Phe1078IlefsTer2) c.434dup (p.Phe147IlefsTer2) c.3035dup (p.Phe1014IlefsTer2) | |
1 | g.209617412C>A | CA344583512 | LAMB3 | c.3226G>T (p.Glu1076Ter) c.433G>T (p.Glu145Ter) c.3034G>T (p.Glu1012Ter) | ClinVar |
1 | g.209617412C>G | CA344583517 | LAMB3 | c.3226G>C (p.Glu1076Gln) c.433G>C (p.Glu145Gln) c.3034G>C (p.Glu1012Gln) | |
1 | g.209617412C>T | CA344583513 | LAMB3 | c.3226G>A (p.Glu1076Lys) c.433G>A (p.Glu145Lys) c.3034G>A (p.Glu1012Lys) | |
1 | g.209617413T>A | CA344583520 | LAMB3 | c.3225A>T (p.Gln1075His) c.432A>T (p.Gln144His) c.3033A>T (p.Gln1011His) | |
1 | g.209617413T>C | CA423029313 | LAMB3 | c.3225A>G (p.Gln1075=) c.432A>G (p.Gln144=) c.3033A>G (p.Gln1011=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617413T>G | CA344583523 | LAMB3 | c.3225A>C (p.Gln1075His) c.432A>C (p.Gln144His) c.3033A>C (p.Gln1011His) | |
1 | g.209617413T= | CA2484295846 | LAMB3 | c.3225A= (p.Gln1075=) c.432A= (p.Gln144=) c.3033A= (p.Gln1011=) | |
1 | g.209617414T>A | CA344583527 | LAMB3 | c.3224A>T (p.Gln1075Leu) c.431A>T (p.Gln144Leu) c.3032A>T (p.Gln1011Leu) | |
1 | g.209617414T>C | CA344583532 | LAMB3 | c.3224A>G (p.Gln1075Arg) c.431A>G (p.Gln144Arg) c.3032A>G (p.Gln1011Arg) | |
1 | g.209617414T>G | CA344583534 | LAMB3 | c.3224A>C (p.Gln1075Pro) c.431A>C (p.Gln144Pro) c.3032A>C (p.Gln1011Pro) | |
1 | g.209617414_209617415del | CA2838849880 | LAMB3 | c.3223_3224del (p.Gln1075ArgfsTer4) c.430_431del (p.Gln144ArgfsTer4) c.3031_3032del (p.Gln1011ArgfsTer4) | |
1 | g.209617415G>A | CA344583539 | LAMB3 | c.3223C>T (p.Gln1075Ter) c.430C>T (p.Gln144Ter) c.3031C>T (p.Gln1011Ter) | |
1 | g.209617415G>C | CA344583542 | LAMB3 | c.3223C>G (p.Gln1075Glu) c.430C>G (p.Gln144Glu) c.3031C>G (p.Gln1011Glu) | gnomAD v4 |
1 | g.209617415G= | CA2484295847 | LAMB3 | c.3223C= (p.Gln1075=) c.430C= (p.Gln144=) c.3031C= (p.Gln1011=) | |
1 | g.209617415G>T | CA344583544 | LAMB3 | c.3223C>A (p.Gln1075Lys) c.430C>A (p.Gln144Lys) c.3031C>A (p.Gln1011Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617417del | CA2697960851 | LAMB3 | c.3223del (p.Gln1075LysfsTer7) c.430del (p.Gln144LysfsTer7) c.3031del (p.Gln1011LysfsTer7) | dbSNP |
1 | g.209617416G>A | CA423029318 | LAMB3 | c.3222C>T (p.Ala1074=) c.429C>T (p.Ala143=) c.3030C>T (p.Ala1010=) | |
1 | g.209617416G>C | CA423029323 | LAMB3 | c.3222C>G (p.Ala1074=) c.429C>G (p.Ala143=) c.3030C>G (p.Ala1010=) | |
1 | g.209617416G>T | CA423029321 | LAMB3 | c.3222C>A (p.Ala1074=) c.429C>A (p.Ala143=) c.3030C>A (p.Ala1010=) | |
1 | g.209617417G>A | CA344583545 | LAMB3 | c.3221C>T (p.Ala1074Val) c.428C>T (p.Ala143Val) c.3029C>T (p.Ala1010Val) | |
1 | g.209617417G>C | CA344583546 | LAMB3 | c.3221C>G (p.Ala1074Gly) c.428C>G (p.Ala143Gly) c.3029C>G (p.Ala1010Gly) | |
1 | g.209617417G>T | CA344583548 | LAMB3 | c.3221C>A (p.Ala1074Asp) c.428C>A (p.Ala143Asp) c.3029C>A (p.Ala1010Asp) | |
1 | g.209617418C>A | CA1374947 | LAMB3 | c.3220G>T (p.Ala1074Ser) c.427G>T (p.Ala143Ser) c.3028G>T (p.Ala1010Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617418C= | CA2484295848 | LAMB3 | c.3220G= (p.Ala1074=) c.427G= (p.Ala143=) c.3028G= (p.Ala1010=) | |
1 | g.209617418C>G | CA344583556 | LAMB3 | c.3220G>C (p.Ala1074Pro) c.427G>C (p.Ala143Pro) c.3028G>C (p.Ala1010Pro) | |
1 | g.209617418C>T | CA344583559 | LAMB3 | c.3220G>A (p.Ala1074Thr) c.427G>A (p.Ala143Thr) c.3028G>A (p.Ala1010Thr) | |
1 | g.209617419A>C | CA344583564 | LAMB3 | c.3219T>G (p.Ser1073Arg) c.426T>G (p.Ser142Arg) c.3027T>G (p.Ser1009Arg) | |
1 | g.209617419A>G | CA423029329 | LAMB3 | c.3219T>C (p.Ser1073=) c.426T>C (p.Ser142=) c.3027T>C (p.Ser1009=) | |
1 | g.209617419A>T | CA344583566 | LAMB3 | c.3219T>A (p.Ser1073Arg) c.426T>A (p.Ser142Arg) c.3027T>A (p.Ser1009Arg) | |
1 | g.209617420C>A | CA344583569 | LAMB3 | c.3218G>T (p.Ser1073Ile) c.425G>T (p.Ser142Ile) c.3026G>T (p.Ser1009Ile) | |
1 | g.209617420C= | CA2484295849 | LAMB3 | c.3218G= (p.Ser1073=) c.425G= (p.Ser142=) c.3026G= (p.Ser1009=) | |
1 | g.209617420C>G | CA344583571 | LAMB3 | c.3218G>C (p.Ser1073Thr) c.425G>C (p.Ser142Thr) c.3026G>C (p.Ser1009Thr) | |
1 | g.209617420C>T | CA1374948 | LAMB3 | c.3218G>A (p.Ser1073Asn) c.425G>A (p.Ser142Asn) c.3026G>A (p.Ser1009Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617421T>A | CA344583577 | LAMB3 | c.3217A>T (p.Ser1073Cys) c.424A>T (p.Ser142Cys) c.3025A>T (p.Ser1009Cys) | |
1 | g.209617421T>C | CA344583578 | LAMB3 | c.3217A>G (p.Ser1073Gly) c.424A>G (p.Ser142Gly) c.3025A>G (p.Ser1009Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617421T>G | CA344583582 | LAMB3 | c.3217A>C (p.Ser1073Arg) c.424A>C (p.Ser142Arg) c.3025A>C (p.Ser1009Arg) | |
1 | g.209617421T= | CA2484295850 | LAMB3 | c.3217A= (p.Ser1073=) c.424A= (p.Ser142=) c.3025A= (p.Ser1009=) | |
1 | g.209617422C>A | CA344583586 | LAMB3 | c.3216G>T (p.Leu1072Phe) c.423G>T (p.Leu141Phe) c.3024G>T (p.Leu1008Phe) | |
1 | g.209617422C>G | CA344583589 | LAMB3 | c.3216G>C (p.Leu1072Phe) c.423G>C (p.Leu141Phe) c.3024G>C (p.Leu1008Phe) | |
1 | g.209617422C>T | CA423029334 | LAMB3 | c.3216G>A (p.Leu1072=) c.423G>A (p.Leu141=) c.3024G>A (p.Leu1008=) | gnomAD v4 |
1 | g.209617423A= | CA2484295851 | LAMB3 | c.3215T= (p.Leu1072=) c.422T= (p.Leu141=) c.3023T= (p.Leu1008=) | |
1 | g.209617423A>C | CA344583593 | LAMB3 | c.3215T>G (p.Leu1072Trp) c.422T>G (p.Leu141Trp) c.3023T>G (p.Leu1008Trp) | |
1 | g.209617423A>G | CA344583596 | LAMB3 | c.3215T>C (p.Leu1072Ser) c.422T>C (p.Leu141Ser) c.3023T>C (p.Leu1008Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617423A>T | CA344583601 | LAMB3 | c.3215T>A (p.Leu1072Ter) c.422T>A (p.Leu141Ter) c.3023T>A (p.Leu1008Ter) | |
1 | g.209617424A= | CA2484295852 | LAMB3 | c.3214T= (p.Leu1072=) c.421T= (p.Leu141=) c.3022T= (p.Leu1008=) | |
1 | g.209617424A>C | CA344583608 | LAMB3 | c.3214T>G (p.Leu1072Val) c.421T>G (p.Leu141Val) c.3022T>G (p.Leu1008Val) | |
1 | g.209617424A>G | CA423029339 | LAMB3 | c.3214T>C (p.Leu1072=) c.421T>C (p.Leu141=) c.3022T>C (p.Leu1008=) | gnomAD v2 gnomAD v4 |
1 | g.209617424A>T | CA344583605 | LAMB3 | c.3214T>A (p.Leu1072Met) c.421T>A (p.Leu141Met) c.3022T>A (p.Leu1008Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617424_209617428delinsATGCC | CA2484295853 | LAMB3 | c.3210_3214delinsGGCAT (p.Gln1070=) c.417_421delinsGGCAT (p.Gln139=) c.3018_3022delinsGGCAT (p.Gln1006=) | |
1 | g.209617425T>A | CA423029341 | LAMB3 | c.3213A>T (p.Ala1071=) c.420A>T (p.Ala140=) c.3021A>T (p.Ala1007=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617425T>C | CA423029343 | LAMB3 | c.3213A>G (p.Ala1071=) c.420A>G (p.Ala140=) c.3021A>G (p.Ala1007=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617425T>G | CA423029344 | LAMB3 | c.3213A>C (p.Ala1071=) c.420A>C (p.Ala140=) c.3021A>C (p.Ala1007=) | gnomAD v4 |
1 | g.209617425T= | CA2484295854 | LAMB3 | c.3213A= (p.Ala1071=) c.420A= (p.Ala140=) c.3021A= (p.Ala1007=) | |
1 | g.209617428_209617431del | CA529000141 | LAMB3 | c.3210_3213del (p.Gln1070HisfsTer2) c.417_420del (p.Gln139HisfsTer2) c.3018_3021del (p.Gln1006HisfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617426G>A | CA344583613 | LAMB3 | c.3212C>T (p.Ala1071Val) c.419C>T (p.Ala140Val) c.3020C>T (p.Ala1007Val) | gnomAD v4 |
1 | g.209617426G>C | CA344583617 | LAMB3 | c.3212C>G (p.Ala1071Gly) c.419C>G (p.Ala140Gly) c.3020C>G (p.Ala1007Gly) | |
1 | g.209617426G= | CA2484295855 | LAMB3 | c.3212C= (p.Ala1071=) c.419C= (p.Ala140=) c.3020C= (p.Ala1007=) | |
1 | g.209617426G>T | CA1374949 | LAMB3 | c.3212C>A (p.Ala1071Glu) c.419C>A (p.Ala140Glu) c.3020C>A (p.Ala1007Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617427C>A | CA344583619 | LAMB3 | c.3211G>T (p.Ala1071Ser) c.418G>T (p.Ala140Ser) c.3019G>T (p.Ala1007Ser) | |
1 | g.209617427C= | CA1148301184 | LAMB3 | c.3211G= (p.Ala1071=) c.418G= (p.Ala140=) c.3019G= (p.Ala1007=) | |
1 | g.209617427C>G | CA1374950 | LAMB3 | c.3211G>C (p.Ala1071Pro) c.418G>C (p.Ala140Pro) c.3019G>C (p.Ala1007Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617427C>T | CA10608965 | LAMB3 | c.3211G>A (p.Ala1071Thr) c.418G>A (p.Ala140Thr) c.3019G>A (p.Ala1007Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.209617428C>A | CA344583621 | LAMB3 | c.3210G>T (p.Gln1070His) c.417G>T (p.Gln139His) c.3018G>T (p.Gln1006His) | |
1 | g.209617428C= | CA2484295856 | LAMB3 | c.3210G= (p.Gln1070=) c.417G= (p.Gln139=) c.3018G= (p.Gln1006=) | |
1 | g.209617428C>G | CA344583624 | LAMB3 | c.3210G>C (p.Gln1070His) c.417G>C (p.Gln139His) c.3018G>C (p.Gln1006His) | |
1 | g.209617428C>T | CA423029352 | LAMB3 | c.3210G>A (p.Gln1070=) c.417G>A (p.Gln139=) c.3018G>A (p.Gln1006=) | dbSNP |
1 | g.209617429T>A | CA344583627 | LAMB3 | c.3209A>T (p.Gln1070Leu) c.416A>T (p.Gln139Leu) c.3017A>T (p.Gln1006Leu) | |
1 | g.209617429T>C | CA344583629 | LAMB3 | c.3209A>G (p.Gln1070Arg) c.416A>G (p.Gln139Arg) c.3017A>G (p.Gln1006Arg) | |
1 | g.209617429T>G | CA344583630 | LAMB3 | c.3209A>C (p.Gln1070Pro) c.416A>C (p.Gln139Pro) c.3017A>C (p.Gln1006Pro) | |
1 | g.209617430G>A | CA344583631 | LAMB3 | c.3208C>T (p.Gln1070Ter) c.415C>T (p.Gln139Ter) c.3016C>T (p.Gln1006Ter) | |
1 | g.209617430G>C | CA344583633 | LAMB3 | c.3208C>G (p.Gln1070Glu) c.415C>G (p.Gln139Glu) c.3016C>G (p.Gln1006Glu) | |
1 | g.209617430G>T | CA344583635 | LAMB3 | c.3208C>A (p.Gln1070Lys) c.415C>A (p.Gln139Lys) c.3016C>A (p.Gln1006Lys) | |
1 | g.209617431C>A | CA1374951 | LAMB3 | c.3207G>T (p.Glu1069Asp) c.414G>T (p.Glu138Asp) c.3015G>T (p.Glu1005Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617431C= | CA2484295857 | LAMB3 | c.3207G= (p.Glu1069=) c.414G= (p.Glu138=) c.3015G= (p.Glu1005=) | |
1 | g.209617431C>G | CA344583638 | LAMB3 | c.3207G>C (p.Glu1069Asp) c.414G>C (p.Glu138Asp) c.3015G>C (p.Glu1005Asp) | |
1 | g.209617431C>T | CA423029360 | LAMB3 | c.3207G>A (p.Glu1069=) c.414G>A (p.Glu138=) c.3015G>A (p.Glu1005=) | gnomAD v4 |
1 | g.209617432T>A | CA344583642 | LAMB3 | c.3206A>T (p.Glu1069Val) c.413A>T (p.Glu138Val) c.3014A>T (p.Glu1005Val) | |
1 | g.209617432T>C | CA344583645 | LAMB3 | c.3206A>G (p.Glu1069Gly) c.413A>G (p.Glu138Gly) c.3014A>G (p.Glu1005Gly) | gnomAD v4 |
1 | g.209617432T>G | CA344583647 | LAMB3 | c.3206A>C (p.Glu1069Ala) c.413A>C (p.Glu138Ala) c.3014A>C (p.Glu1005Ala) | |
1 | g.209617433C>A | CA344583649 | LAMB3 | c.3205G>T (p.Glu1069Ter) c.412G>T (p.Glu138Ter) c.3013G>T (p.Glu1005Ter) | |
1 | g.209617433C= | CA2484295858 | LAMB3 | c.3205G= (p.Glu1069=) c.412G= (p.Glu138=) c.3013G= (p.Glu1005=) | |
1 | g.209617433C>G | CA1374953 | LAMB3 | c.3205G>C (p.Glu1069Gln) c.412G>C (p.Glu138Gln) c.3013G>C (p.Glu1005Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617433C>T | CA1374952 | LAMB3 | c.3205G>A (p.Glu1069Lys) c.412G>A (p.Glu138Lys) c.3013G>A (p.Glu1005Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617434G>A | CA1374954 | LAMB3 | c.3204C>T (p.Ser1068=) c.411C>T (p.Ser137=) c.3012C>T (p.Ser1004=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617434G>C | CA1374955 | LAMB3 | c.3204C>G (p.Ser1068Arg) c.411C>G (p.Ser137Arg) c.3012C>G (p.Ser1004Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617434G= | CA2484295859 | LAMB3 | c.3204C= (p.Ser1068=) c.411C= (p.Ser137=) c.3012C= (p.Ser1004=) | |
1 | g.209617434G>T | CA344583664 | LAMB3 | c.3204C>A (p.Ser1068Arg) c.411C>A (p.Ser137Arg) c.3012C>A (p.Ser1004Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617435C>A | CA344583669 | LAMB3 | c.3203G>T (p.Ser1068Ile) c.410G>T (p.Ser137Ile) c.3011G>T (p.Ser1004Ile) | |
1 | g.209617435C>G | CA344583671 | LAMB3 | c.3203G>C (p.Ser1068Thr) c.410G>C (p.Ser137Thr) c.3011G>C (p.Ser1004Thr) | |
1 | g.209617435C>T | CA344583679 | LAMB3 | c.3203G>A (p.Ser1068Asn) c.410G>A (p.Ser137Asn) c.3011G>A (p.Ser1004Asn) | |
1 | g.209617436T>A | CA344583687 | LAMB3 | c.3202A>T (p.Ser1068Cys) c.409A>T (p.Ser137Cys) c.3010A>T (p.Ser1004Cys) | |
1 | g.209617436T>C | CA344583690 | LAMB3 | c.3202A>G (p.Ser1068Gly) c.409A>G (p.Ser137Gly) c.3010A>G (p.Ser1004Gly) | |
1 | g.209617436T>G | CA344583684 | LAMB3 | c.3202A>C (p.Ser1068Arg) c.409A>C (p.Ser137Arg) c.3010A>C (p.Ser1004Arg) | |
1 | g.209617437G>A | CA423029371 | LAMB3 | c.3201C>T (p.Ala1067=) c.408C>T (p.Ala136=) c.3009C>T (p.Ala1003=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617437G>C | CA423029373 | LAMB3 | c.3201C>G (p.Ala1067=) c.408C>G (p.Ala136=) c.3009C>G (p.Ala1003=) | |
1 | g.209617437G>T | CA423029372 | LAMB3 | c.3201C>A (p.Ala1067=) c.408C>A (p.Ala136=) c.3009C>A (p.Ala1003=) | |
1 | g.209617438G>A | CA344583693 | LAMB3 | c.3200C>T (p.Ala1067Val) c.407C>T (p.Ala136Val) c.3008C>T (p.Ala1003Val) | |
1 | g.209617438G>C | CA344583695 | LAMB3 | c.3200C>G (p.Ala1067Gly) c.407C>G (p.Ala136Gly) c.3008C>G (p.Ala1003Gly) | |
1 | g.209617438G>T | CA344583704 | LAMB3 | c.3200C>A (p.Ala1067Asp) c.407C>A (p.Ala136Asp) c.3008C>A (p.Ala1003Asp) | gnomAD v4 |
1 | g.209617439C>A | CA344583707 | LAMB3 | c.3199G>T (p.Ala1067Ser) c.406G>T (p.Ala136Ser) c.3007G>T (p.Ala1003Ser) | |
1 | g.209617439C>G | CA344583716 | LAMB3 | c.3199G>C (p.Ala1067Pro) c.406G>C (p.Ala136Pro) c.3007G>C (p.Ala1003Pro) | |
1 | g.209617439C>T | CA344583719 | LAMB3 | c.3199G>A (p.Ala1067Thr) c.406G>A (p.Ala136Thr) c.3007G>A (p.Ala1003Thr) | |
1 | g.209617440A= | CA2484295860 | LAMB3 | c.3198T= (p.Gly1066=) c.405T= (p.Gly135=) c.3006T= (p.Gly1002=) | |
1 | g.209617440A>C | CA423029377 | LAMB3 | c.3198T>G (p.Gly1066=) c.405T>G (p.Gly135=) c.3006T>G (p.Gly1002=) | dbSNP |
1 | g.209617440A>G | CA423029378 | LAMB3 | c.3198T>C (p.Gly1066=) c.405T>C (p.Gly135=) c.3006T>C (p.Gly1002=) | gnomAD v4 |
1 | g.209617440A>T | CA423029379 | LAMB3 | c.3198T>A (p.Gly1066=) c.405T>A (p.Gly135=) c.3006T>A (p.Gly1002=) | |
1 | g.209617441C>A | CA344583732 | LAMB3 | c.3197G>T (p.Gly1066Val) c.404G>T (p.Gly135Val) c.3005G>T (p.Gly1002Val) | gnomAD v4 |
1 | g.209617441C= | CA2484295861 | LAMB3 | c.3197G= (p.Gly1066=) c.404G= (p.Gly135=) c.3005G= (p.Gly1002=) | |
1 | g.209617441C>G | CA344583723 | LAMB3 | c.3197G>C (p.Gly1066Ala) c.404G>C (p.Gly135Ala) c.3005G>C (p.Gly1002Ala) | gnomAD v4 |
1 | g.209617441C>T | CA344583726 | LAMB3 | c.3197G>A (p.Gly1066Asp) c.404G>A (p.Gly135Asp) c.3005G>A (p.Gly1002Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617442C>A | CA344583735 | LAMB3 | c.3196G>T (p.Gly1066Cys) c.403G>T (p.Gly135Cys) c.3004G>T (p.Gly1002Cys) | |
1 | g.209617442C>G | CA344583737 | LAMB3 | c.3196G>C (p.Gly1066Arg) c.403G>C (p.Gly135Arg) c.3004G>C (p.Gly1002Arg) | |
1 | g.209617442C>T | CA344583739 | LAMB3 | c.3196G>A (p.Gly1066Ser) c.403G>A (p.Gly135Ser) c.3004G>A (p.Gly1002Ser) | |
1 | g.209617443T>A | CA344583743 | LAMB3 | c.3195A>T (p.Glu1065Asp) c.402A>T (p.Glu134Asp) c.3003A>T (p.Glu1001Asp) | |
1 | g.209617443T>C | CA423029387 | LAMB3 | c.3195A>G (p.Glu1065=) c.402A>G (p.Glu134=) c.3003A>G (p.Glu1001=) | |
1 | g.209617443T>G | CA344583751 | LAMB3 | c.3195A>C (p.Glu1065Asp) c.402A>C (p.Glu134Asp) c.3003A>C (p.Glu1001Asp) | |
1 | g.209617444T>A | CA344583761 | LAMB3 | c.3194A>T (p.Glu1065Val) c.401A>T (p.Glu134Val) c.3002A>T (p.Glu1001Val) | |
1 | g.209617444T>C | CA344583755 | LAMB3 | c.3194A>G (p.Glu1065Gly) c.401A>G (p.Glu134Gly) c.3002A>G (p.Glu1001Gly) | gnomAD v4 |
1 | g.209617444T>G | CA344583758 | LAMB3 | c.3194A>C (p.Glu1065Ala) c.401A>C (p.Glu134Ala) c.3002A>C (p.Glu1001Ala) | |
1 | g.209617445C>A | CA344583764 | LAMB3 | c.3193G>T (p.Glu1065Ter) c.400G>T (p.Glu134Ter) c.3001G>T (p.Glu1001Ter) | gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617445C= | CA2484295862 | LAMB3 | c.3193G= (p.Glu1065=) c.400G= (p.Glu134=) c.3001G= (p.Glu1001=) | |
1 | g.209617445C>G | CA344583767 | LAMB3 | c.3193G>C (p.Glu1065Gln) c.400G>C (p.Glu134Gln) c.3001G>C (p.Glu1001Gln) | |
1 | g.209617445C>T | CA1374956 | LAMB3 | c.3193G>A (p.Glu1065Lys) c.400G>A (p.Glu134Lys) c.3001G>A (p.Glu1001Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617446C>A | CA423029392 | LAMB3 | c.3192G>T (p.Ala1064=) c.399G>T (p.Ala133=) c.3000G>T (p.Ala1000=) | |
1 | g.209617446C= | CA1141454234 | LAMB3 | c.3192G= (p.Ala1064=) c.399G= (p.Ala133=) c.3000G= (p.Ala1000=) | |
1 | g.209617446C>G | CA423029393 | LAMB3 | c.3192G>C (p.Ala1064=) c.399G>C (p.Ala133=) c.3000G>C (p.Ala1000=) | |
1 | g.209617446C>T | CA1374957 | LAMB3 | c.3192G>A (p.Ala1064=) c.399G>A (p.Ala133=) c.3000G>A (p.Ala1000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617447G>A | CA1374958 | LAMB3 | c.3191C>T (p.Ala1064Val) c.398C>T (p.Ala133Val) c.2999C>T (p.Ala1000Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617447G>C | CA344583782 | LAMB3 | c.3191C>G (p.Ala1064Gly) c.398C>G (p.Ala133Gly) c.2999C>G (p.Ala1000Gly) | |
1 | g.209617447G= | CA1143575845 | LAMB3 | c.3191C= (p.Ala1064=) c.398C= (p.Ala133=) c.2999C= (p.Ala1000=) | |
1 | g.209617447G>T | CA344583787 | LAMB3 | c.3191C>A (p.Ala1064Glu) c.398C>A (p.Ala133Glu) c.2999C>A (p.Ala1000Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617447_209617448delinsTA | CA2586967983 | LAMB3 | c.3190_3191delinsTA (p.Ala1064Ter) c.397_398delinsTA (p.Ala133Ter) c.2998_2999delinsTA (p.Ala1000Ter) | ClinVar |
1 | g.209617448C>A | CA344583788 | LAMB3 | c.3190G>T (p.Ala1064Ser) c.397G>T (p.Ala133Ser) c.2998G>T (p.Ala1000Ser) | gnomAD v4 |
1 | g.209617448C>G | CA344583789 | LAMB3 | c.3190G>C (p.Ala1064Pro) c.397G>C (p.Ala133Pro) c.2998G>C (p.Ala1000Pro) | |
1 | g.209617448C>T | CA344583790 | LAMB3 | c.3190G>A (p.Ala1064Thr) c.397G>A (p.Ala133Thr) c.2998G>A (p.Ala1000Thr) | |
1 | g.209617449A>C | CA423029396 | LAMB3 | c.3189T>G (p.Leu1063=) c.396T>G (p.Leu132=) c.2997T>G (p.Leu999=) | |
1 | g.209617449A>G | CA423029398 | LAMB3 | c.3189T>C (p.Leu1063=) c.396T>C (p.Leu132=) c.2997T>C (p.Leu999=) | ClinVar dbSNP |
1 | g.209617449A>T | CA423029399 | LAMB3 | c.3189T>A (p.Leu1063=) c.396T>A (p.Leu132=) c.2997T>A (p.Leu999=) | |
1 | g.209617450A>C | CA344583793 | LAMB3 | c.3188T>G (p.Leu1063Arg) c.395T>G (p.Leu132Arg) c.2996T>G (p.Leu999Arg) | |
1 | g.209617450A>G | CA344583795 | LAMB3 | c.3188T>C (p.Leu1063Pro) c.395T>C (p.Leu132Pro) c.2996T>C (p.Leu999Pro) | |
1 | g.209617450A>T | CA344583796 | LAMB3 | c.3188T>A (p.Leu1063His) c.395T>A (p.Leu132His) c.2996T>A (p.Leu999His) | |
1 | g.209617451G>A | CA344583804 | LAMB3 | c.3187C>T (p.Leu1063Phe) c.394C>T (p.Leu132Phe) c.2995C>T (p.Leu999Phe) | dbSNP gnomAD v2 |
1 | g.209617451G>C | CA344583813 | LAMB3 | c.3187C>G (p.Leu1063Val) c.394C>G (p.Leu132Val) c.2995C>G (p.Leu999Val) | |
1 | g.209617451G= | CA2484295863 | LAMB3 | c.3187C= (p.Leu1063=) c.394C= (p.Leu132=) c.2995C= (p.Leu999=) | |
1 | g.209617451G>T | CA344583811 | LAMB3 | c.3187C>A (p.Leu1063Ile) c.394C>A (p.Leu132Ile) c.2995C>A (p.Leu999Ile) | |
1 | g.209617452C>A | CA344583816 | LAMB3 | c.3186G>T (p.Gln1062His) c.393G>T (p.Gln131His) c.2994G>T (p.Gln998His) | |
1 | g.209617452C>G | CA344583819 | LAMB3 | c.3186G>C (p.Gln1062His) c.393G>C (p.Gln131His) c.2994G>C (p.Gln998His) | |
1 | g.209617452C>T | CA423029404 | LAMB3 | c.3186G>A (p.Gln1062=) c.393G>A (p.Gln131=) c.2994G>A (p.Gln998=) | |
1 | g.209617453T>A | CA344583823 | LAMB3 | c.3185A>T (p.Gln1062Leu) c.392A>T (p.Gln131Leu) c.2993A>T (p.Gln998Leu) | |
1 | g.209617453T>C | CA344583828 | LAMB3 | c.3185A>G (p.Gln1062Arg) c.392A>G (p.Gln131Arg) c.2993A>G (p.Gln998Arg) | |
1 | g.209617453T>G | CA344583829 | LAMB3 | c.3185A>C (p.Gln1062Pro) c.392A>C (p.Gln131Pro) c.2993A>C (p.Gln998Pro) | gnomAD v4 |
1 | g.209617454G>A | CA344583831 | LAMB3 | c.3184C>T (p.Gln1062Ter) c.391C>T (p.Gln131Ter) c.2992C>T (p.Gln998Ter) | |
1 | g.209617454G>C | CA344583832 | LAMB3 | c.3184C>G (p.Gln1062Glu) c.391C>G (p.Gln131Glu) c.2992C>G (p.Gln998Glu) | gnomAD v4 |
1 | g.209617454G= | CA2484295864 | LAMB3 | c.3184C= (p.Gln1062=) c.391C= (p.Gln131=) c.2992C= (p.Gln998=) | |
1 | g.209617454G>T | CA344583834 | LAMB3 | c.3184C>A (p.Gln1062Lys) c.391C>A (p.Gln131Lys) c.2992C>A (p.Gln998Lys) | dbSNP gnomAD v2 |