| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48566281A= | CA1363080171 | COL7A1 | c.8393T= (p.Met2798=) n.5032T= c.8420T= (p.Met2807=) c.8360T= (p.Met2787=) n.8456T= c.8333T= (p.Met2778=) n.8429T= | |
| 3 | g.48566281A>C | CA352636227 | COL7A1 | c.8393T>G (p.Met2798Arg) n.5032T>G c.8420T>G (p.Met2807Arg) c.8360T>G (p.Met2787Arg) n.8456T>G c.8333T>G (p.Met2778Arg) n.8429T>G | |
| 3 | g.48566281A>G | CA352636230 | COL7A1 | c.8393T>C (p.Met2798Thr) n.5032T>C c.8420T>C (p.Met2807Thr) c.8360T>C (p.Met2787Thr) n.8456T>C c.8333T>C (p.Met2778Thr) n.8429T>C | gnomAD v4 |
| 3 | g.48566281A>T | CA257933 | COL7A1 | c.8393T>A (p.Met2798Lys) n.5032T>A c.8420T>A (p.Met2807Lys) c.8360T>A (p.Met2787Lys) n.8456T>A c.8333T>A (p.Met2778Lys) n.8429T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48566282T>A | CA352636237 | COL7A1 | c.8392A>T (p.Met2798Leu) n.5031A>T c.8419A>T (p.Met2807Leu) c.8359A>T (p.Met2787Leu) n.8455A>T c.8332A>T (p.Met2778Leu) n.8428A>T | |
| 3 | g.48566282T>C | CA352636241 | COL7A1 | c.8392A>G (p.Met2798Val) n.5031A>G c.8419A>G (p.Met2807Val) c.8359A>G (p.Met2787Val) n.8455A>G c.8332A>G (p.Met2778Val) n.8428A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.48566282T>G | CA352636245 | COL7A1 | c.8392A>C (p.Met2798Leu) n.5031A>C c.8419A>C (p.Met2807Leu) c.8359A>C (p.Met2787Leu) n.8455A>C c.8332A>C (p.Met2778Leu) n.8428A>C | |
| 3 | g.48566282T= | CA1363080173 | COL7A1 | c.8392A= (p.Met2798=) n.5031A= c.8419A= (p.Met2807=) c.8359A= (p.Met2787=) n.8455A= c.8332A= (p.Met2778=) n.8428A= | |
| 3 | g.48566283C>A | CA352636249 | COL7A1 | c.8391G>T (p.Glu2797Asp) n.5030G>T c.8418G>T (p.Glu2806Asp) c.8358G>T (p.Glu2786Asp) n.8454G>T c.8331G>T (p.Glu2777Asp) n.8427G>T | gnomAD v4 |
| 3 | g.48566283C>G | CA352636252 | COL7A1 | c.8391G>C (p.Glu2797Asp) n.5030G>C c.8418G>C (p.Glu2806Asp) c.8358G>C (p.Glu2786Asp) n.8454G>C c.8331G>C (p.Glu2777Asp) n.8427G>C | gnomAD v4 |
| 3 | g.48566283C>T | CA433532324 | COL7A1 | c.8391G>A (p.Glu2797=) n.5030G>A c.8418G>A (p.Glu2806=) c.8358G>A (p.Glu2786=) n.8454G>A c.8331G>A (p.Glu2777=) n.8427G>A | |
| 3 | g.48566284T>A | CA352636260 | COL7A1 | c.8390A>T (p.Glu2797Val) n.5029A>T c.8417A>T (p.Glu2806Val) c.8357A>T (p.Glu2786Val) n.8453A>T c.8330A>T (p.Glu2777Val) n.8426A>T | gnomAD v4 |
| 3 | g.48566284T>C | CA352636273 | COL7A1 | c.8390A>G (p.Glu2797Gly) n.5029A>G c.8417A>G (p.Glu2806Gly) c.8357A>G (p.Glu2786Gly) n.8453A>G c.8330A>G (p.Glu2777Gly) n.8426A>G | |
| 3 | g.48566284T>G | CA352636277 | COL7A1 | c.8390A>C (p.Glu2797Ala) n.5029A>C c.8417A>C (p.Glu2806Ala) c.8357A>C (p.Glu2786Ala) n.8453A>C c.8330A>C (p.Glu2777Ala) n.8426A>C | |
| 3 | g.48566285C>A | CA352636284 | COL7A1 | c.8389G>T (p.Glu2797Ter) n.5028G>T c.8416G>T (p.Glu2806Ter) c.8356G>T (p.Glu2786Ter) n.8452G>T c.8329G>T (p.Glu2777Ter) n.8425G>T | gnomAD v4 |
| 3 | g.48566285C>G | CA352636287 | COL7A1 | c.8389G>C (p.Glu2797Gln) n.5028G>C c.8416G>C (p.Glu2806Gln) c.8356G>C (p.Glu2786Gln) n.8452G>C c.8329G>C (p.Glu2777Gln) n.8425G>C | |
| 3 | g.48566285C>T | CA352636292 | COL7A1 | c.8389G>A (p.Glu2797Lys) n.5028G>A c.8416G>A (p.Glu2806Lys) c.8356G>A (p.Glu2786Lys) n.8452G>A c.8329G>A (p.Glu2777Lys) n.8425G>A | |
| 3 | g.48566286T>A | CA352636298 | COL7A1 | c.8388A>T (p.Gln2796His) n.5027A>T c.8415A>T (p.Gln2805His) c.8355A>T (p.Gln2785His) n.8451A>T c.8328A>T (p.Gln2776His) n.8424A>T | |
| 3 | g.48566286T>C | CA433532329 | COL7A1 | c.8388A>G (p.Gln2796=) n.5027A>G c.8415A>G (p.Gln2805=) c.8355A>G (p.Gln2785=) n.8451A>G c.8328A>G (p.Gln2776=) n.8424A>G | |
| 3 | g.48566286T>G | CA352636301 | COL7A1 | c.8388A>C (p.Gln2796His) n.5027A>C c.8415A>C (p.Gln2805His) c.8355A>C (p.Gln2785His) n.8451A>C c.8328A>C (p.Gln2776His) n.8424A>C | |
| 3 | g.48566287T>A | CA352636306 | COL7A1 | c.8387A>T (p.Gln2796Leu) n.5026A>T c.8414A>T (p.Gln2805Leu) c.8354A>T (p.Gln2785Leu) n.8450A>T c.8327A>T (p.Gln2776Leu) n.8423A>T | |
| 3 | g.48566287T>C | CA352636309 | COL7A1 | c.8387A>G (p.Gln2796Arg) n.5026A>G c.8414A>G (p.Gln2805Arg) c.8354A>G (p.Gln2785Arg) n.8450A>G c.8327A>G (p.Gln2776Arg) n.8423A>G | |
| 3 | g.48566287T>G | CA352636313 | COL7A1 | c.8387A>C (p.Gln2796Pro) n.5026A>C c.8414A>C (p.Gln2805Pro) c.8354A>C (p.Gln2785Pro) n.8450A>C c.8327A>C (p.Gln2776Pro) n.8423A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48566287T= | CA1363080175 | COL7A1 | c.8387A= (p.Gln2796=) n.5026A= c.8414A= (p.Gln2805=) c.8354A= (p.Gln2785=) n.8450A= c.8327A= (p.Gln2776=) n.8423A= | |
| 3 | g.48566288G>A | CA352636333 | COL7A1 | c.8386C>T (p.Gln2796Ter) n.5025C>T c.8413C>T (p.Gln2805Ter) c.8353C>T (p.Gln2785Ter) n.8449C>T c.8326C>T (p.Gln2776Ter) n.8422C>T | gnomAD v4 |
| 3 | g.48566288G>C | CA352636331 | COL7A1 | c.8386C>G (p.Gln2796Glu) n.5025C>G c.8413C>G (p.Gln2805Glu) c.8353C>G (p.Gln2785Glu) n.8449C>G c.8326C>G (p.Gln2776Glu) n.8422C>G | |
| 3 | g.48566288G>T | CA352636320 | COL7A1 | c.8386C>A (p.Gln2796Lys) n.5025C>A c.8413C>A (p.Gln2805Lys) c.8353C>A (p.Gln2785Lys) n.8449C>A c.8326C>A (p.Gln2776Lys) n.8422C>A | |
| 3 | g.48566289G>A | CA2378040 | COL7A1 | c.8385C>T (p.Arg2795=) n.5024C>T c.8412C>T (p.Arg2804=) c.8352C>T (p.Arg2784=) n.8448C>T c.8325C>T (p.Arg2775=) n.8421C>T | dbSNP ExAC gnomAD v4 |
| 3 | g.48566289G>C | CA433532338 | COL7A1 | c.8385C>G (p.Arg2795=) n.5024C>G c.8412C>G (p.Arg2804=) c.8352C>G (p.Arg2784=) n.8448C>G c.8325C>G (p.Arg2775=) n.8421C>G | |
| 3 | g.48566289G= | CA1363080179 | COL7A1 | c.8385C= (p.Arg2795=) n.5024C= c.8412C= (p.Arg2804=) c.8352C= (p.Arg2784=) n.8448C= c.8325C= (p.Arg2775=) n.8421C= | |
| 3 | g.48566289G>T | CA433532339 | COL7A1 | c.8385C>A (p.Arg2795=) n.5024C>A c.8412C>A (p.Arg2804=) c.8352C>A (p.Arg2784=) n.8448C>A c.8325C>A (p.Arg2775=) n.8421C>A | gnomAD v4 |
| 3 | g.48566290C>A | CA352636350 | COL7A1 | c.8384G>T (p.Arg2795Leu) n.5023G>T c.8411G>T (p.Arg2804Leu) c.8351G>T (p.Arg2784Leu) n.8447G>T c.8324G>T (p.Arg2775Leu) n.8420G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48566290C= | CA1363080183 | COL7A1 | c.8384G= (p.Arg2795=) n.5023G= c.8411G= (p.Arg2804=) c.8351G= (p.Arg2784=) n.8447G= c.8324G= (p.Arg2775=) n.8420G= | |
| 3 | g.48566290C>G | CA352636352 | COL7A1 | c.8384G>C (p.Arg2795Pro) n.5023G>C c.8411G>C (p.Arg2804Pro) c.8351G>C (p.Arg2784Pro) n.8447G>C c.8324G>C (p.Arg2775Pro) n.8420G>C | gnomAD v4 |
| 3 | g.48566290C>T | CA2378041 | COL7A1 | c.8384G>A (p.Arg2795His) n.5023G>A c.8411G>A (p.Arg2804His) c.8351G>A (p.Arg2784His) n.8447G>A c.8324G>A (p.Arg2775His) n.8420G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48566291G>A | CA2378042 | COL7A1 | c.8383C>T (p.Arg2795Cys) n.5022C>T c.8410C>T (p.Arg2804Cys) c.8350C>T (p.Arg2784Cys) n.8446C>T c.8323C>T (p.Arg2775Cys) n.8419C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.48566291G>C | CA352636365 | COL7A1 | c.8383C>G (p.Arg2795Gly) n.5022C>G c.8410C>G (p.Arg2804Gly) c.8350C>G (p.Arg2784Gly) n.8446C>G c.8323C>G (p.Arg2775Gly) n.8419C>G | |
| 3 | g.48566291G= | CA1363080186 | COL7A1 | c.8383C= (p.Arg2795=) n.5022C= c.8410C= (p.Arg2804=) c.8350C= (p.Arg2784=) n.8446C= c.8323C= (p.Arg2775=) n.8419C= | |
| 3 | g.48566291G>T | CA352636369 | COL7A1 | c.8383C>A (p.Arg2795Ser) n.5022C>A c.8410C>A (p.Arg2804Ser) c.8350C>A (p.Arg2784Ser) n.8446C>A c.8323C>A (p.Arg2775Ser) n.8419C>A | gnomAD v4 |
| 3 | g.48566292C>A | CA433532342 | COL7A1 | c.8382G>T (p.Val2794=) n.5021G>T c.8409G>T (p.Val2803=) c.8349G>T (p.Val2783=) n.8445G>T c.8322G>T (p.Val2774=) n.8418G>T | gnomAD v4 |
| 3 | g.48566292C= | CA1363080188 | COL7A1 | c.8382G= (p.Val2794=) n.5021G= c.8409G= (p.Val2803=) c.8349G= (p.Val2783=) n.8445G= c.8322G= (p.Val2774=) n.8418G= | |
| 3 | g.48566292C>G | CA433532343 | COL7A1 | c.8382G>C (p.Val2794=) n.5021G>C c.8409G>C (p.Val2803=) c.8349G>C (p.Val2783=) n.8445G>C c.8322G>C (p.Val2774=) n.8418G>C | |
| 3 | g.48566292C>T | CA433532345 | COL7A1 | c.8382G>A (p.Val2794=) n.5021G>A c.8409G>A (p.Val2803=) c.8349G>A (p.Val2783=) n.8445G>A c.8322G>A (p.Val2774=) n.8418G>A | dbSNP gnomAD v2 |
| 3 | g.48566293A>C | CA352636372 | COL7A1 | c.8381T>G (p.Val2794Gly) n.5020T>G c.8408T>G (p.Val2803Gly) c.8348T>G (p.Val2783Gly) n.8444T>G c.8321T>G (p.Val2774Gly) n.8417T>G | |
| 3 | g.48566293A>G | CA352636374 | COL7A1 | c.8381T>C (p.Val2794Ala) n.5020T>C c.8408T>C (p.Val2803Ala) c.8348T>C (p.Val2783Ala) n.8444T>C c.8321T>C (p.Val2774Ala) n.8417T>C | |
| 3 | g.48566293A>T | CA352636379 | COL7A1 | c.8381T>A (p.Val2794Glu) n.5020T>A c.8408T>A (p.Val2803Glu) c.8348T>A (p.Val2783Glu) n.8444T>A c.8321T>A (p.Val2774Glu) n.8417T>A | |
| 3 | g.48566294C>A | CA352636384 | COL7A1 | c.8380G>T (p.Val2794Leu) n.5019G>T c.8407G>T (p.Val2803Leu) c.8347G>T (p.Val2783Leu) n.8443G>T c.8320G>T (p.Val2774Leu) n.8416G>T | gnomAD v4 |
| 3 | g.48566294C= | CA1363080191 | COL7A1 | c.8380G= (p.Val2794=) n.5019G= c.8407G= (p.Val2803=) c.8347G= (p.Val2783=) n.8443G= c.8320G= (p.Val2774=) n.8416G= | |
| 3 | g.48566294C>G | CA352636388 | COL7A1 | c.8380G>C (p.Val2794Leu) n.5019G>C c.8407G>C (p.Val2803Leu) c.8347G>C (p.Val2783Leu) n.8443G>C c.8320G>C (p.Val2774Leu) n.8416G>C | |
| 3 | g.48566294C>T | CA352636395 | COL7A1 | c.8380G>A (p.Val2794Met) n.5019G>A c.8407G>A (p.Val2803Met) c.8347G>A (p.Val2783Met) n.8443G>A c.8320G>A (p.Val2774Met) n.8416G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |